17-26823478-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823478
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823478
    reference: chr 17
allele count: 1
allele frequency: 8.356732183446986e-6
allele num: 119664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1352T>C
  hgvsp: ENSP00000441935.1:p.Ile451Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1741T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1514T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1628T>C
  hgvsp: ENSP00000392411.3:p.Ile543Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1268T>C
  hgvsp: ENSP00000440802.1:p.Ile423Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40351A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1481T>C
  hgvsp: ENSP00000316202.5:p.Ile494Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1576T>C
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile543Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

17-26823497-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823497
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823497
    reference: chr 17
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1760C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1287C>T
  hgvsp: ENST00000537681.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1371C>T
  hgvsp: ENST00000545060.1:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40370G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1533C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1595C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1647C>T
  hgvsp: ENST00000444914.3:c.1647C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1500C>T
  hgvsp: ENST00000314669.5:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25145
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr549Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-26823498-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823498
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823498
    reference: chr 17
allele count: 53
allele frequency: 4.388943175607413e-4
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1596G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1372G>A
  hgvsp: ENSP00000441935.1:p.Val458Ile
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40371C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1288G>A
  hgvsp: ENSP00000440802.1:p.Val430Ile
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1648G>A
  hgvsp: ENSP00000392411.3:p.Val550Ile
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1534G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1501G>A
  hgvsp: ENSP00000316202.5:p.Val501Ile
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1761G>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val550Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-26823499-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823499
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823499
    reference: chr 17
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1597T>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1502T>A
  hgvsp: ENSP00000316202.5:p.Val501Asp
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1373T>A
  hgvsp: ENSP00000441935.1:p.Val458Asp
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1535T>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1289T>A
  hgvsp: ENSP00000440802.1:p.Val430Asp
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1649T>A
  hgvsp: ENSP00000392411.3:p.Val550Asp
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1762T>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40372A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val550Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

17-26823504-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823504
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823504
    reference: chr 17
allele count: 2
allele frequency: 1.654013463669594e-5
allele num: 120918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40377G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1294C>G
  hgvsp: ENSP00000440802.1:p.Leu432Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1540C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1654C>G
  hgvsp: ENSP00000392411.3:p.Leu552Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1602C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1507C>G
  hgvsp: ENSP00000316202.5:p.Leu503Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1378C>G
  hgvsp: ENSP00000441935.1:p.Leu460Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1767C>G
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu552Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

17-26823507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823507
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823507
    reference: chr 17
allele count: 2
allele frequency: 1.652755970580944e-5
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1657C>T
  hgvsp: ENSP00000392411.3:p.Pro553Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1543C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40380G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1381C>T
  hgvsp: ENSP00000441935.1:p.Pro461Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1510C>T
  hgvsp: ENSP00000316202.5:p.Pro504Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1297C>T
  hgvsp: ENSP00000440802.1:p.Pro433Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1770C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1605C>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro553Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

17-26823508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823508
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823508
    reference: chr 17
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1511C>T
  hgvsp: ENSP00000316202.5:p.Pro504Leu
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1658C>T
  hgvsp: ENSP00000392411.3:p.Pro553Leu
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1298C>T
  hgvsp: ENSP00000440802.1:p.Pro433Leu
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40381G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1544C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1382C>T
  hgvsp: ENSP00000441935.1:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1771C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1606C>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro553Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-26823509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823509
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823509
    reference: chr 17
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1607C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1659C>T
  hgvsp: ENST00000444914.3:c.1659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1772C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40382G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1299C>T
  hgvsp: ENST00000537681.1:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1383C>T
  hgvsp: ENST00000545060.1:c.1383C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1512C>T
  hgvsp: ENST00000314669.5:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1545C>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4563
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro553Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

17-26823513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823513
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823513
    reference: chr 17
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40386T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1776A>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1303A>G
  hgvsp: ENSP00000440802.1:p.Thr435Ala
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1516A>G
  hgvsp: ENSP00000316202.5:p.Thr506Ala
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1663A>G
  hgvsp: ENSP00000392411.3:p.Thr555Ala
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1387A>G
  hgvsp: ENSP00000441935.1:p.Thr463Ala
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1611A>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1549A>G
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr555Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

17-26823528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823528
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823528
    reference: chr 17
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40401G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1626C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1678C>T
  hgvsp: ENST00000444914.3:c.1678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1531C>T
  hgvsp: ENST00000314669.5:c.1531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1791C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1402C>T
  hgvsp: ENST00000545060.1:c.1402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1564C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1318C>T
  hgvsp: ENST00000537681.1:c.1318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu560Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/17-26823533-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823533
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823533
    reference: chr 17
allele count: 4
allele frequency: 3.30114714863415e-5
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1536C>A
  hgvsp: ENST00000314669.5:c.1536C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1569C>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1631C>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1683C>A
  hgvsp: ENST00000444914.3:c.1683C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1323C>A
  hgvsp: ENST00000537681.1:c.1323C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1407C>A
  hgvsp: ENST00000545060.1:c.1407C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40406G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1796C>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25118
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala561Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

17-26823543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823543
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823543
    reference: chr 17
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1579C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1806C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1417C>T
  hgvsp: ENSP00000441935.1:p.Pro473Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1693C>T
  hgvsp: ENSP00000392411.3:p.Pro565Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40416G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1546C>T
  hgvsp: ENSP00000316202.5:p.Pro516Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1641C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1333C>T
  hgvsp: ENSP00000440802.1:p.Pro445Ser
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12210
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro565Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-26823550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823550
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823550
    reference: chr 17
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1340C>T
  hgvsp: ENSP00000440802.1:p.Ala447Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40423G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1700C>T
  hgvsp: ENSP00000392411.3:p.Ala567Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1586C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1648C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1424C>T
  hgvsp: ENSP00000441935.1:p.Ala475Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1813C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1553C>T
  hgvsp: ENSP00000316202.5:p.Ala518Val
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala567Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-26823557-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823557
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823557
    reference: chr 17
allele count: 54
allele frequency: 4.456622210484616e-4
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1593G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1431G>A
  hgvsp: ENST00000545060.1:c.1431G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1655G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1560G>A
  hgvsp: ENST00000314669.5:c.1560G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1820G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1707G>A
  hgvsp: ENST00000444914.3:c.1707G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1347G>A
  hgvsp: ENST00000537681.1:c.1347G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40430C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro569Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

17-26823557-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823557
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823557
    reference: chr 17
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1593G>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1655G>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1347G>T
  hgvsp: ENST00000537681.1:c.1347G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1820G>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1431G>T
  hgvsp: ENST00000545060.1:c.1431G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40430C>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1707G>T
  hgvsp: ENST00000444914.3:c.1707G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1560G>T
  hgvsp: ENST00000314669.5:c.1560G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro569Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-26823562-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823562
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823562
    reference: chr 17
allele count: 2
allele frequency: 1.650900566258894e-5
allele num: 121146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1436A>G
  hgvsp: ENSP00000441935.1:p.Asn479Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1712A>G
  hgvsp: ENSP00000392411.3:p.Asn571Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1660A>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1825A>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1598A>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40435T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1565A>G
  hgvsp: ENSP00000316202.5:p.Asn522Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1352A>G
  hgvsp: ENSP00000440802.1:p.Asn451Ser
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn571Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-26823564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823564
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823564
    reference: chr 17
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1567G>A
  hgvsp: ENSP00000316202.5:p.Ala523Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1714G>A
  hgvsp: ENSP00000392411.3:p.Ala572Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1438G>A
  hgvsp: ENSP00000441935.1:p.Ala480Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1662G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1827G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1600G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1354G>A
  hgvsp: ENSP00000440802.1:p.Ala452Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40437C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25088
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala572Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-26823569-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823569
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823569
    reference: chr 17
allele count: 3
allele frequency: 2.477536997885835e-5
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1832C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40442G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1667C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1443C>T
  hgvsp: ENST00000545060.1:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1572C>T
  hgvsp: ENST00000314669.5:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1359C>T
  hgvsp: ENST00000537681.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1605C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1719C>T
  hgvsp: ENST00000444914.3:c.1719C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile573Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-26823570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823570
    reference: chr 17
allele count: 2
allele frequency: 1.65188231990353e-5
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1573G>A
  hgvsp: ENSP00000316202.5:p.Val525Ile
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1444G>A
  hgvsp: ENSP00000441935.1:p.Val482Ile
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1360G>A
  hgvsp: ENSP00000440802.1:p.Val454Ile
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1668G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1606G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1833G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1720G>A
  hgvsp: ENSP00000392411.3:p.Val574Ile
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40443C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val574Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

17-26823572-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823572
    reference: chr 17
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1835C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1446C>G
  hgvsp: ENST00000545060.1:c.1446C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1362C>G
  hgvsp: ENST00000537681.1:c.1362C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1608C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1722C>G
  hgvsp: ENST00000444914.3:c.1722C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1575C>G
  hgvsp: ENST00000314669.5:c.1575C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1670C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40445G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val574Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-26823581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823581
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823581
    reference: chr 17
allele count: 5
allele frequency: 4.139415514529349e-5
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1371C>T
  hgvsp: ENST00000537681.1:c.1371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1679C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1731C>T
  hgvsp: ENST00000444914.3:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1617C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1844C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1584C>T
  hgvsp: ENST00000314669.5:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1455C>T
  hgvsp: ENST00000545060.1:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40454G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25082
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe577Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

17-26823582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823582
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823582
    reference: chr 17
allele count: 6
allele frequency: 4.968944099378882e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1618G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1732G>A
  hgvsp: ENSP00000392411.3:p.Gly578Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1845G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1680G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1456G>A
  hgvsp: ENSP00000441935.1:p.Gly486Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1585G>A
  hgvsp: ENSP00000316202.5:p.Gly529Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1372G>A
  hgvsp: ENSP00000440802.1:p.Gly458Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40455C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25078
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly578Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/17-26823586-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823586
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823585
    reference: chr 17
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1462delC
  hgvsp: ENSP00000441935.1:p.Leu488SerfsTer19
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1738delC
  hgvsp: ENSP00000392411.3:p.Leu580SerfsTer19
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1686delC
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1591delC
  hgvsp: ENSP00000316202.5:p.Leu531SerfsTer19
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1851delC
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1378delC
  hgvsp: ENSP00000440802.1:p.Leu460SerfsTer19
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1624delC
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40460delG
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25076
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu580SerfsTer19
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: AC
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-26823588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823588
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823588
    reference: chr 17
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1378C>T
  hgvsp: ENSP00000440802.1:p.Leu460Phe
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1462C>T
  hgvsp: ENSP00000441935.1:p.Leu488Phe
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1738C>T
  hgvsp: ENSP00000392411.3:p.Leu580Phe
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1624C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40461G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1686C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1591C>T
  hgvsp: ENSP00000316202.5:p.Leu531Phe
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1851C>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu580Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

17-26823590-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823590
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823590
    reference: chr 17
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1626C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1593C>G
  hgvsp: ENST00000314669.5:c.1593C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1688C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1740C>G
  hgvsp: ENST00000444914.3:c.1740C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1853C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1380C>G
  hgvsp: ENST00000537681.1:c.1380C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1464C>G
  hgvsp: ENST00000545060.1:c.1464C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40463G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu580Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-26823596-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823596
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823596
    reference: chr 17
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40469C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1386G>T
  hgvsp: ENST00000537681.1:c.1386G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1746G>T
  hgvsp: ENST00000444914.3:c.1746G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1859G>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1470G>T
  hgvsp: ENST00000545060.1:c.1470G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1694G>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1632G>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1599G>T
  hgvsp: ENST00000314669.5:c.1599G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9287
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val582Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

17-26823602-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823602
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823602
    reference: chr 17
allele count: 1
allele frequency: 8.367500627562547e-6
allele num: 119510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1476T>C
  hgvsp: ENST00000545060.1:c.1476T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1865T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1605T>C
  hgvsp: ENST00000314669.5:c.1605T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1638T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1752T>C
  hgvsp: ENST00000444914.3:c.1752T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1392T>C
  hgvsp: ENST00000537681.1:c.1392T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1700T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40475A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp584Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

17-26823613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823613
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823613
    reference: chr 17
allele count: 1
allele frequency: 8.412976174451474e-6
allele num: 118864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1703+8G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1479+8G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1608+8G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1755+8G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1395+8G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1868+8G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40486C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1641+8G>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1755+8G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-26823613-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823613
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823613
    reference: chr 17
allele count: 4
allele frequency: 3.365190469780589e-5
allele num: 118864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1395+8G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1479+8G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40486C>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1755+8G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1868+8G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1703+8G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1608+8G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1641+8G>C
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1755+8G>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-26823614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823614
    reference: chr 17
allele count: 2
allele frequency: 1.684891577227005e-5
allele num: 118702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1703+9C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1608+9C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1479+9C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40487G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1395+9C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1868+9C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1641+9C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1755+9C>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25068
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-26823616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823616
    reference: chr 17
allele count: 2
allele frequency: 1.685828922080987e-5
allele num: 118636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1641+11G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1608+11G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1479+11G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1868+11G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1755+11G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1703+11G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1395+11G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40489C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-26823629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823629
    reference: chr 17
allele count: 1
allele frequency: 8.476012883539584e-6
allele num: 117980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1479+24G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1868+24G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1608+24G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1395+24G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40502C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1641+24G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1703+24G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1755+24G>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-26823630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823630
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823630
    reference: chr 17
allele count: 1
allele frequency: 8.501377223110144e-6
allele num: 117628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1641+25C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1868+25C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1703+25C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40503G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1395+25C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1608+25C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1479+25C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1755+25C>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-26823633-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823634
    reference: chr 17
allele count: 1
allele frequency: 8.503545978673106e-6
allele num: 117598
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1868+29dupA
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1755+29dupA
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1608+29dupA
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1395+29dupA
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1641+29dupA
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40507dupT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1479+29dupA
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1703+29dupA
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

17-26823633-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823633
    reference: chr 17
allele count: 1
allele frequency: 8.503545978673106e-6
allele num: 117598
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1608+28C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1395+28C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1703+28C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1868+28C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1755+28C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1641+28C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1479+28C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40506G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24934
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-26823646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26823646
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26823646
    reference: chr 17
allele count: 2
allele frequency: 1.718154015325934e-5
allele num: 116404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1479+41T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1703+41T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1608+41T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40519A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1395+41T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1641+41T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1868+41T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1755+41T>C
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-26824071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824071
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824071
    reference: chr 17
allele count: 33
allele frequency: 2.851858893478749e-4
allele num: 115714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1396-46G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1642-46G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1609-46G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1756-46G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1869-46G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1480-46G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40944C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1704-46G>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8392
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-26824076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824076
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824076
    reference: chr 17
allele count: 3
allele frequency: 2.586206896551724e-5
allele num: 116000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1704-41G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1480-41G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40949C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1642-41G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1756-41G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1609-41G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1869-41G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1396-41G>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-26824081-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824081
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824081
    reference: chr 17
allele count: 3
allele frequency: 2.579890612638024e-5
allele num: 116284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1704-36G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1869-36G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1642-36G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1480-36G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1756-36G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40954C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1609-36G>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1396-36G>C
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-26824083-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824083
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824083
    reference: chr 17
allele count: 1
allele frequency: 8.607777988190129e-6
allele num: 116174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1869-34C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1609-34C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1642-34C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1396-34C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1704-34C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1480-34C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40956G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1756-34C>G
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-26824090-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824090
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824090
    reference: chr 17
allele count: 1
allele frequency: 8.562376915831835e-6
allele num: 116790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1869-27T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1704-27T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40963A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1756-27T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1396-27T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1642-27T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1480-27T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1609-27T>C
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

17-26824100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824100
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824100
    reference: chr 17
allele count: 1
allele frequency: 8.496176720475786e-6
allele num: 117700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40973C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1869-17G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1642-17G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1609-17G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1756-17G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1704-17G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1396-17G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1480-17G>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

17-26824101-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824101
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824101
    reference: chr 17
allele count: 3
allele frequency: 2.5470785009594e-5
allele num: 117782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1704-16A>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1756-16A>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1869-16A>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40974T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1396-16A>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1642-16A>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1480-16A>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1609-16A>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

17-26824106-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824106
    reference: chr 17
allele count: 1
allele frequency: 8.451942256330504e-6
allele num: 118316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1869-11C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1609-11C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1480-11C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1396-11C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40979G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1756-11C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1642-11C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1704-11C>G
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-26824117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824117
    reference: chr 17
allele count: 1
allele frequency: 8.35421888053467e-6
allele num: 119700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1704G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1609G>A
  hgvsp: ENSP00000316202.5:p.Ala537Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1869G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1480G>A
  hgvsp: ENSP00000441935.1:p.Ala494Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40990C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1642G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1396G>A
  hgvsp: ENSP00000440802.1:p.Ala466Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1756G>A
  hgvsp: ENSP00000392411.3:p.Ala586Thr
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala586Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-26824120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824120
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824120
    reference: chr 17
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1872C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1707C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1399C>T
  hgvsp: ENSP00000440802.1:p.Arg467Trp
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1612C>T
  hgvsp: ENSP00000316202.5:p.Arg538Trp
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40993G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1645C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1759C>T
  hgvsp: ENSP00000392411.3:p.Arg587Trp
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1483C>T
  hgvsp: ENSP00000441935.1:p.Arg495Trp
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg587Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

17-26824121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824121
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824121
    reference: chr 17
allele count: 7
allele frequency: 5.818109280715461e-5
allele num: 120314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40994C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1646G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1400G>A
  hgvsp: ENSP00000440802.1:p.Arg467Gln
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1760G>A
  hgvsp: ENSP00000392411.3:p.Arg587Gln
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1484G>A
  hgvsp: ENSP00000441935.1:p.Arg495Gln
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1613G>A
  hgvsp: ENSP00000316202.5:p.Arg538Gln
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1873G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1708G>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg587Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-26824124-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824124
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824124
    reference: chr 17
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1876C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1649C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1616C>G
  hgvsp: ENSP00000316202.5:p.Ala539Gly
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1487C>G
  hgvsp: ENSP00000441935.1:p.Ala496Gly
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1711C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40997G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1763C>G
  hgvsp: ENSP00000392411.3:p.Ala588Gly
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1403C>G
  hgvsp: ENSP00000440802.1:p.Ala468Gly
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala588Gly
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-26824126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824126
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824126
    reference: chr 17
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-40999C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1713G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1618G>A
  hgvsp: ENSP00000316202.5:p.Gly540Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1651G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1878G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1405G>A
  hgvsp: ENSP00000440802.1:p.Gly469Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1489G>A
  hgvsp: ENSP00000441935.1:p.Gly497Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1765G>A
  hgvsp: ENSP00000392411.3:p.Gly589Arg
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly589Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

17-26824128-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824128
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824129
    reference: chr 17
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1717dupT
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1409dupT
  hgvsp: ENSP00000440802.1:p.Leu471ProfsTer71
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1769dupT
  hgvsp: ENSP00000392411.3:p.Leu591ProfsTer71
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1882dupT
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1622dupT
  hgvsp: ENSP00000316202.5:p.Leu542ProfsTer71
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41002dupA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1493dupT
  hgvsp: ENSP00000441935.1:p.Leu499ProfsTer71
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1655dupT
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29656
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9703
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu591ProfsTer71
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-26824131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824131
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824131
    reference: chr 17
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1883C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1494C>T
  hgvsp: ENST00000545060.1:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1410C>T
  hgvsp: ENST00000537681.1:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1770C>T
  hgvsp: ENST00000444914.3:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1623C>T
  hgvsp: ENST00000314669.5:c.1623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41004G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1656C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1718C>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe590Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-26824145-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824145
    reference: chr 17
allele count: 2
allele frequency: 1.649593375233005e-5
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1897T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1784T>C
  hgvsp: ENSP00000392411.3:p.Ile595Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41018A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1637T>C
  hgvsp: ENSP00000316202.5:p.Ile546Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1424T>C
  hgvsp: ENSP00000440802.1:p.Ile475Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1508T>C
  hgvsp: ENSP00000441935.1:p.Ile503Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1670T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1732T>C
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29686
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile595Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

17-26824156-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824156
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824156
    reference: chr 17
allele count: 49025
allele frequency: 4.042298812664908e-1
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1908A>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1648A>G
  hgvsp: ENSP00000316202.5:p.Ile550Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1681A>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1743A>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1435A>G
  hgvsp: ENSP00000440802.1:p.Ile479Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41029T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1519A>G
  hgvsp: ENSP00000441935.1:p.Ile507Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1795A>G
  hgvsp: ENSP00000392411.3:p.Ile599Val
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 3.75e1
  variant carriers: 475
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 3.25e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 29921
  bin: 9.75e1
  variant carriers: 29819
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 576
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 5.75e1
  variant carriers: 632
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.25e1
  variant carriers: 765
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 8.75e1
  variant carriers: 876
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 5.25e1
  variant carriers: 622
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 4.75e1
  variant carriers: 627
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 9.25e1
  variant carriers: 1032
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.75e1
  variant carriers: 694
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 6.25e1
  variant carriers: 565
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.75e1
  variant carriers: 550
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 4.25e1
  variant carriers: 576
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 2.75e1
  variant carriers: 245
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5565
  bin: 6.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 5
hgvs: p.Ile599Val
num of homozygotes: 10437
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-26824157-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824157
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1744T>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1436T>G
  hgvsp: ENSP00000440802.1:p.Ile479Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1909T>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1649T>G
  hgvsp: ENSP00000316202.5:p.Ile550Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1796T>G
  hgvsp: ENSP00000392411.3:p.Ile599Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1520T>G
  hgvsp: ENSP00000441935.1:p.Ile507Ser
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1682T>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41030A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile599Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-26824161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824161
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824161
    reference: chr 17
allele count: 34
allele frequency: 2.801859115931041e-4
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1524C>T
  hgvsp: ENST00000545060.1:c.1524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1748C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1800C>T
  hgvsp: ENST00000444914.3:c.1800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1686C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1440C>T
  hgvsp: ENST00000537681.1:c.1440C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1653C>T
  hgvsp: ENST00000314669.5:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1913C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41034G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile600Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-26824162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824162
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824162
    reference: chr 17
allele count: 5
allele frequency: 4.120245236996506e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1687G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1801G>A
  hgvsp: ENSP00000392411.3:p.Ala601Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1525G>A
  hgvsp: ENSP00000441935.1:p.Ala509Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1441G>A
  hgvsp: ENSP00000440802.1:p.Ala481Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1654G>A
  hgvsp: ENSP00000316202.5:p.Ala552Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1749G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41035C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1914G>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala601Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-26824165-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824165
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824165
    reference: chr 17
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1690C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1804C>G
  hgvsp: ENSP00000392411.3:p.Leu602Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1657C>G
  hgvsp: ENSP00000316202.5:p.Leu553Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1752C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1444C>G
  hgvsp: ENSP00000440802.1:p.Leu482Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1917C>G
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1528C>G
  hgvsp: ENSP00000441935.1:p.Leu510Val
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41038G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu602Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-26824170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824170
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824170
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1662C>T
  hgvsp: ENST00000314669.5:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41043G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1922C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1533C>T
  hgvsp: ENST00000545060.1:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1809C>T
  hgvsp: ENST00000444914.3:c.1809C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1695C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1449C>T
  hgvsp: ENST00000537681.1:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1757C>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24395
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala603Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-26824176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824176
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824176
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1928C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1701C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41049G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1815C>T
  hgvsp: ENST00000444914.3:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1539C>T
  hgvsp: ENST00000545060.1:c.1539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1763C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1455C>T
  hgvsp: ENST00000537681.1:c.1455C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1668C>T
  hgvsp: ENST00000314669.5:c.1668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn605Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

17-26824180-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824180
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41053A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1767T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1672T>C
  hgvsp: ENSP00000316202.5:p.Trp558Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1819T>C
  hgvsp: ENSP00000392411.3:p.Trp607Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1543T>C
  hgvsp: ENSP00000441935.1:p.Trp515Arg
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1705T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1932T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1459T>C
  hgvsp: ENSP00000440802.1:p.Trp487Arg
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp607Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-26824185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824185
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824185
    reference: chr 17
allele count: 76
allele frequency: 6.262875978574372e-4
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1464C>T
  hgvsp: ENST00000537681.1:c.1464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1937C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1824C>T
  hgvsp: ENST00000444914.3:c.1824C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1710C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1548C>T
  hgvsp: ENST00000545060.1:c.1548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41058G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1677C>T
  hgvsp: ENST00000314669.5:c.1677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1772C>T
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly608Gly
num of homozygotes: 2
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-26824188-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824188
    reference: chr 17
allele count: 39
allele frequency: 3.214003164556962e-4
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1680C>A
  hgvsp: ENST00000314669.5:c.1680C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1940C>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1467C>A
  hgvsp: ENST00000537681.1:c.1467C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41061G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1775C>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1551C>A
  hgvsp: ENST00000545060.1:c.1551C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1713C>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1827C>A
  hgvsp: ENST00000444914.3:c.1827C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile609Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

17-26824188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824188
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1551C>T
  hgvsp: ENST00000545060.1:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1940C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1680C>T
  hgvsp: ENST00000314669.5:c.1680C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1775C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1713C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41061G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1827C>T
  hgvsp: ENST00000444914.3:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1467C>T
  hgvsp: ENST00000537681.1:c.1467C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile609Ile
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/17-26824190-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824190
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824190
    reference: chr 17
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1682C>A
  hgvsp: ENSP00000316202.5:p.Pro561His
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1469C>A
  hgvsp: ENSP00000440802.1:p.Pro490His
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1829C>A
  hgvsp: ENSP00000392411.3:p.Pro610His
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1942C>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1715C>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1777C>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1553C>A
  hgvsp: ENSP00000441935.1:p.Pro518His
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41063G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro610His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-26824206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824206
    reference: chr 17
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1845C>T
  hgvsp: ENST00000444914.3:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1958C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1569C>T
  hgvsp: ENST00000545060.1:c.1569C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1485C>T
  hgvsp: ENST00000537681.1:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41079G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1731C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1793C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1698C>T
  hgvsp: ENST00000314669.5:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His615His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-26824215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824215
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824215
    reference: chr 17
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1494C>T
  hgvsp: ENST00000537681.1:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1740C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41088G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1802C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1707C>T
  hgvsp: ENST00000314669.5:c.1707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1578C>T
  hgvsp: ENST00000545060.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1967C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1854C>T
  hgvsp: ENST00000444914.3:c.1854C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro618Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

17-26824216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824216
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1495T>C
  hgvsp: ENSP00000440802.1:p.Ser499Pro
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1708T>C
  hgvsp: ENSP00000316202.5:p.Ser570Pro
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1968T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1855T>C
  hgvsp: ENSP00000392411.3:p.Ser619Pro
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1579T>C
  hgvsp: ENSP00000441935.1:p.Ser527Pro
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1741T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1803T>C
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41089A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser619Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-26824217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824217
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824217
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1856C>T
  hgvsp: ENSP00000392411.3:p.Ser619Phe
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1742C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41090G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1496C>T
  hgvsp: ENSP00000440802.1:p.Ser499Phe
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1580C>T
  hgvsp: ENSP00000441935.1:p.Ser527Phe
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1969C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1804C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1709C>T
  hgvsp: ENSP00000316202.5:p.Ser570Phe
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser619Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

17-26824222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824222
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824222
    reference: chr 17
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1501G>A
  hgvsp: ENSP00000440802.1:p.Ala501Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1714G>A
  hgvsp: ENSP00000316202.5:p.Ala572Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41095C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1861G>A
  hgvsp: ENSP00000392411.3:p.Ala621Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1974G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1585G>A
  hgvsp: ENSP00000441935.1:p.Ala529Thr
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1809G>A
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1747G>A
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala621Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

17-26824225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824225
    reference: chr 17
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1504C>T
  hgvsp: ENSP00000440802.1:p.Gln502Ter
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1977C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1717C>T
  hgvsp: ENSP00000316202.5:p.Gln573Ter
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1588C>T
  hgvsp: ENSP00000441935.1:p.Gln530Ter
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41098G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1750C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1812C>T
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1864C>T
  hgvsp: ENSP00000392411.3:p.Gln622Ter
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24328
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln622Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-26824232-ACAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26824232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26824229
    reference: chr 17
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463421
  ensembl transcript: ENST00000579281
  gene symbol: SLC13A2
  hgvsc: ENST00000579281.1:c.*1761_*1763delCAC
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258472
  ensembl protein: ENSP00000436369
  ensembl transcript: ENST00000481916
  gene symbol: RP11-192H23.4
  hgvsc: ENST00000481916.2:c.*1196-41108_*1196-41106delGTG
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000440802
  ensembl transcript: ENST00000537681
  gene symbol: SLC13A2
  hgvsc: ENST00000537681.1:c.1515_1517delCAC
  hgvsp: ENSP00000440802.1:p.Thr506del
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000316202
  ensembl transcript: ENST00000314669
  gene symbol: SLC13A2
  hgvsc: ENST00000314669.5:c.1728_1730delCAC
  hgvsp: ENSP00000316202.5:p.Thr577del
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000464074
  ensembl transcript: ENST00000459818
  gene symbol: SLC13A2
  hgvsc: ENST00000459818.2:c.*1823_*1825delCAC
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000392411
  ensembl transcript: ENST00000444914
  gene symbol: SLC13A2
  hgvsc: ENST00000444914.3:c.1875_1877delCAC
  hgvsp: ENSP00000392411.3:p.Thr626del
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000441935
  ensembl transcript: ENST00000545060
  gene symbol: SLC13A2
  hgvsc: ENST00000545060.1:c.1599_1601delCAC
  hgvsp: ENSP00000441935.1:p.Thr534del
  variant of: http://identifiers.org/hgnc/10917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000007216
  ensembl protein: ENSP00000463457
  ensembl transcript: ENST00000577903
  gene symbol: SLC13A2
  hgvsc: ENST00000577903.1:c.*1988_*1990delCAC
  variant of: http://identifiers.org/hgnc/10917
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr626del
num of homozygotes: 0
reference allele: ACAC

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4824
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4552
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

DP
type: SiteQuality
SIO_000300: 2.522314e6

FS
type: SiteQuality
SIO_000300: 1.146e1

VQSLOD
type: SiteQuality
SIO_000300: -1.264e0

QD
type: SiteQuality
SIO_000300: 1.432e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2420
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4907
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11575
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4440
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 2.539172e6

QD
type: SiteQuality
SIO_000300: 1.307e1

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

FS
type: SiteQuality
SIO_000300: 3.321e0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

GenotypeQuality
all individuals: 4909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 11699
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25150
bin: 9.75e1
variant carriers: 53

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 51
allele frequency: 4.902903287829264e-3
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

DP
type: SiteQuality
SIO_000300: 2.541775e6

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 25124
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4917
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4564
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16100
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.063e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 1.274e0

DP
type: SiteQuality
SIO_000300: 2.535546e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.668e0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4440
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2548
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25122
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4235
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.235941169200346e-4
allele num: 16182
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.621e0

QD
type: SiteQuality
SIO_000300: 9.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 1.0048e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 2.537387e6

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12056
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4565
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25121
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4238
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 8.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.230920728705071e-4
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.251e1

FS
type: SiteQuality
SIO_000300: 1.881e0

DP
type: SiteQuality
SIO_000300: 2.538631e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.232e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25119
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4237
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4564
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12088
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

QD
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MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.861e0

DP
type: SiteQuality
SIO_000300: 2.538709e6

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

GenotypeQuality
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bin: 5.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.3572e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
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SIO_000300: -3.472e0

VQSLOD
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SIO_000300: -1.813e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

DP
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SIO_000300: 2.538872e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
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SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 2.539614e6

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

BaseQRankSum
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SIO_000300: 4.01e0

InbreedingCoeff
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QD
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ClippingRankSum
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SIO_000300: -1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -2.884e-1

GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.907e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.477e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.953e0

FS
type: SiteQuality
SIO_000300: 4.257e0

QD
type: SiteQuality
SIO_000300: 1.37e1

ReadPosRankSum
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SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 2.540607e6

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 5.434e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.955e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 2.540621e6

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

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: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

African
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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
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.831e1

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 2.31107002542177e-4
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 (Finnish)
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allele count: 0
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allele num: 6612
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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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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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 1.040137053352912e-3
allele num: 16344
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European (Non-Finnish)
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allele count: 34
allele frequency: 5.100051000510005e-4
allele num: 66666
num of homozygotes: 0

African
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Other
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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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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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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Latino
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num of homozygotes: 0

European (Finnish)
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African
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allele num: 10406
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Other
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

Other
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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: 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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 1.355e1

FS
type: SiteQuality
SIO_000300: 5.824e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.536768e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

FS
type: SiteQuality
SIO_000300: 1.586e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -3.5e-1

VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.954e0

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.28e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 3
allele frequency: 1.840039254170756e-4
allele num: 16304
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
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

FS
type: SiteQuality
SIO_000300: 6.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 2.535973e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.07e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

FS
type: SiteQuality
SIO_000300: 2.911e0

QD
type: SiteQuality
SIO_000300: 1.298e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 2.535654e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.78e0

QD
type: SiteQuality
SIO_000300: 1.596e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.177e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

FS
type: SiteQuality
SIO_000300: 6.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.534812e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.507211538461539e-5
allele num: 66560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-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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bin: 8.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 6
allele frequency: 6.934812760055479e-4
allele num: 8652
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16064
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
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FS
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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66514
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African
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South Asian
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MQRankSum
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ClippingRankSum
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DP
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FS
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QD
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

Latino
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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Other
type: Population
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allele frequency: 0.0e0
allele num: 894
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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QD
type: SiteQuality
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.521958e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
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SIO_000300: 4.4e-2

VQSLOD
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FS
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SIO_000300: 9.272e0

MQRankSum
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SIO_000300: 5.77e-1

BaseQRankSum
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SIO_000300: -1.715e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.232e1

ReadPosRankSum
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SIO_000300: 2.98e0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66322
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African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.475e0

MQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

QD
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: 4.19e-1

VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.510628e6

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 890
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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ClippingRankSum
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DP
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SIO_000300: 2.502879e6

QD
type: SiteQuality
SIO_000300: 1.576e1

FS
type: SiteQuality
SIO_000300: 8.568e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.534e-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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bin: 8.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14700
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513225591671206e-5
allele num: 66084
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
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.484721e6

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.692e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.052902366684826e-5
allele num: 66084
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10376
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

DP
type: SiteQuality
SIO_000300: 2.484721e6

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
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allele frequency: 2.311604253351826e-4
allele num: 8652
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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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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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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MQRankSum
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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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Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.028284174186906e-5
allele num: 66044
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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Latino
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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FS
type: SiteQuality
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QD
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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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Latino
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num of homozygotes: 0

East Asian
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South Asian
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European (Non-Finnish)
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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FS
type: SiteQuality
SIO_000300: 3.723e0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.597e1

DP
type: SiteQuality
SIO_000300: 2.457309e6

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.383e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.294e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 2856
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24934
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13812
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

FS
type: SiteQuality
SIO_000300: 3.349e0

DP
type: SiteQuality
SIO_000300: 2.456157e6

MQ
type: SiteQuality
SIO_000300: 6.023e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.65e1

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7670
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520172691617768e-5
allele num: 65782
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13812
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.65e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.85e-1

FS
type: SiteQuality
SIO_000300: 3.349e0

DP
type: SiteQuality
SIO_000300: 2.456157e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65510
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12968
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.71e-1

DP
type: SiteQuality
SIO_000300: 2.433398e6

QD
type: SiteQuality
SIO_000300: 1.212e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.082e0

GenotypeQuality
all individuals: 1928
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29464
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 5445
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

East Asian
type: Population
allele count: 24
allele frequency: 2.783576896311761e-3
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.126137164211107e-5
allele num: 65294
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.992334717342702e-4
allele num: 12524
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.682e0

QD
type: SiteQuality
SIO_000300: 1.11e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

FS
type: SiteQuality
SIO_000300: 2.094e0

DP
type: SiteQuality
SIO_000300: 2.369619e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

GenotypeQuality
all individuals: 711
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 29519
bin: 9.75e1
variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65382
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.359974826935179e-4
allele num: 12712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 2.376462e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -6.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.025e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 170
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variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 8.75e1
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: 12892
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.903600464576074e-4
allele num: 10332
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: 0
allele frequency: 0.0e0
allele num: 65446
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

FS
type: SiteQuality
SIO_000300: 2.941e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 2.382729e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.081e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12808
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528584530724549e-5
allele num: 65420
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

FS
type: SiteQuality
SIO_000300: 2.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

DP
type: SiteQuality
SIO_000300: 2.385539e6

QD
type: SiteQuality
SIO_000300: 1.506e1

GenotypeQuality
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bin: 7.5e0
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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variant carriers: 0

GenotypeQuality
all individuals: 139
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GenotypeQuality
all individuals: 2269
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.562008469449486e-5
allele num: 13224
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65582
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.394412e6

QD
type: SiteQuality
SIO_000300: 1.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.868e-1

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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GenotypeQuality
all individuals: 2354
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GenotypeQuality
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GenotypeQuality
all individuals: 46
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 29595
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variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13866
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.904e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 2.40792e6

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.371e0

QD
type: SiteQuality
SIO_000300: 1.137e1

GenotypeQuality
all individuals: 262
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3641
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519295047098146e-5
allele num: 65820
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.732501732501733e-4
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.658e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

DP
type: SiteQuality
SIO_000300: 2.409411e6

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3696
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variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
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: 14294
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.389e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 2.417038e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

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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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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 4131
bin: 6.75e1
variant carriers: 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: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.529972574115189e-5
allele num: 15314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.007e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 2.435369e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.223e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.501e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
all individuals: 3792
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.402048655569782e-5
allele num: 15620
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: 11568
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.055e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

FS
type: SiteQuality
SIO_000300: 4.477e0

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 2.442657e6

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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GenotypeQuality
all individuals: 3725
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GenotypeQuality
all individuals: 560
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.903553299492386e-4
allele num: 15760
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010959894014212e-5
allele num: 66424
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.056e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 1.261e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 2.44575e6

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeQuality
all individuals: 2402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 2506
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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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.2625250501002e-5
allele num: 15968
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

FS
type: SiteQuality
SIO_000300: 4.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.921e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.203e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 2.449392e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 88
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.453e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.238e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.008e0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.722e1

DP
type: SiteQuality
SIO_000300: 2.451699e6

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3852
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

FS
type: SiteQuality
SIO_000300: 1.723e0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 6.003e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.453202e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.803e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 9756
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GenotypeQuality
all individuals: 3857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29657
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.903e0

FS
type: SiteQuality
SIO_000300: 5.803e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 2.455148e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.554e1

FS
type: SiteQuality
SIO_000300: 2.769e0

DP
type: SiteQuality
SIO_000300: 2.461074e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 9

GenotypeQuality
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bin: 3.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 25

GenotypeQuality
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bin: 2.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 5.25e1
variant carriers: 9

GenotypeQuality
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bin: 9.25e1
variant carriers: 46

GenotypeQuality
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bin: 8.25e1
variant carriers: 43

GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 46306
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variant carriers: 38383

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 3

South Asian
type: Population
allele count: 7282
allele frequency: 4.414938765611738e-1
allele num: 16494
num of homozygotes: 1638

European (Non-Finnish)
type: Population
allele count: 23391
allele frequency: 3.507422402159244e-1
allele num: 66690
num of homozygotes: 4182

Other
type: Population
allele count: 350
allele frequency: 3.863134657836644e-1
allele num: 906
num of homozygotes: 68

East Asian
type: Population
allele count: 3136
allele frequency: 3.641430562006502e-1
allele num: 8612
num of homozygotes: 580

Latino
type: Population
allele count: 6197
allele frequency: 5.357019363762102e-1
allele num: 11568
num of homozygotes: 1639

European (Finnish)
type: Population
allele count: 2399
allele frequency: 3.631547078413563e-1
allele num: 6606
num of homozygotes: 425

African
type: Population
allele count: 6270
allele frequency: 6.026528258362168e-1
allele num: 10404
num of homozygotes: 1905

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 5.865681e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.43e-2

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

QD
type: SiteQuality
SIO_000300: 1.993e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 13569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3769
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.61893e6

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

FS
type: SiteQuality
SIO_000300: 5.184e0

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

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

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

GenotypeQuality
all individuals: 3846
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GenotypeQuality
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variant carriers: 34

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

GenotypeQuality
all individuals: 2631
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variant carriers: 0

GenotypeQuality
all individuals: 13593
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

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

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

African
type: Population
allele count: 26
allele frequency: 2.500480861704174e-3
allele num: 10398
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497616263380409e-5
allele num: 66702
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.03e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

DP
type: SiteQuality
SIO_000300: 2.619145e6

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 1.878e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 1.589e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

GenotypeQuality
all individuals: 13616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 24402
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5925
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4110
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variant carriers: 0

GenotypeQuality
all individuals: 3769
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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: 3
allele frequency: 4.497751124437781e-5
allele num: 66700
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.965e0

QD
type: SiteQuality
SIO_000300: 1.631e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.616424e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 24
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GenotypeQuality
all individuals: 24398
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 1.0447e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.616065e6

VQSLOD
type: SiteQuality
SIO_000300: -1.964e0

QD
type: SiteQuality
SIO_000300: 1.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4099
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

DP
type: SiteQuality
SIO_000300: 2.615805e6

FS
type: SiteQuality
SIO_000300: 5.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.135e0

DP
type: SiteQuality
SIO_000300: 2.615586e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.285e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.383e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.615922e6

VQSLOD
type: SiteQuality
SIO_000300: 4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
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SIO_000300: -1.192e0

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

FS
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.094e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 74

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

East Asian
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allele count: 76
allele frequency: 8.786127167630059e-3
allele num: 8650
num of homozygotes: 2

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 2.623089e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.573e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 1.08e1

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

African
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allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 34
allele frequency: 5.096992774263184e-4
allele num: 66706
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.882e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.166e1

DP
type: SiteQuality
SIO_000300: 2.614977e6

FS
type: SiteQuality
SIO_000300: 2.604e0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

European (Finnish)
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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: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 2.604e0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 7.96e0

FS
type: SiteQuality
SIO_000300: 1.0793e1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.609938e6

GenotypeQuality
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bin: 6.75e1
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: 6.25e1
variant carriers: 0

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.985e1

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

South Asian
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allele frequency: 0.0e0
allele num: 16508
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

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

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

African
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allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

South Asian
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East Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
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
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num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 1.122e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.322e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.508e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.60921e6

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 2615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3772
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13706
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24328
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 2.608924e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

FS
type: SiteQuality
SIO_000300: 1.085e0

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

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

GenotypeQuality
all individuals: 13704
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3773
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.299e0

QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

DP
type: SiteQuality
SIO_000300: 2.608552e6