19-10738545-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738545
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738545
    reference: chr 19
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.87-51G>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.161-51G>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-389-51G>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1568G>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.161-51G>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1568G>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.155-51G>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1568G>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.161-51G>C
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12047
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-10738546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738546
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738546
    reference: chr 19
allele count: 166
allele frequency: 1.371787455582183e-3
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.155-50G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.161-50G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.161-50G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.161-50G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1569G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.87-50G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-389-50G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1569G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1569G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18911
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 12097
  bin: 9.75e1
  variant carriers: 166
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-10738576-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738576
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738576
    reference: chr 19
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-389-20A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.161-20A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.161-20A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1599A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.87-20A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.155-20A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.161-20A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1599A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1599A>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

19-10738578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738578
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738578
    reference: chr 19
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.161-18C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1601C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.161-18C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1601C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.87-18C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-389-18C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.161-18C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1601C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.155-18C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

19-10738581-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738581
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738581
    reference: chr 19
allele count: 2
allele frequency: 1.655519502019734e-5
allele num: 120808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1604T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.87-15T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-389-15T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.161-15T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1604T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1604T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.155-15T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.161-15T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.161-15T>C
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10404
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-10738596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738596
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738596
    reference: chr 19
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.87C>G
  hgvsp: ENSP00000466612.1:p.Ser29Arg
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.155C>G
  hgvsp: ENSP00000385135.3:p.Ala52Gly
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1619C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.161C>G
  hgvsp: ENSP00000468070.1:p.Ala54Gly
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.161C>G
  hgvsp: ENSP00000466664.1:p.Ala54Gly
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.161C>G
  hgvsp: ENSP00000336888.4:p.Ala54Gly
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-389C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1619C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1619C>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala54Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-10738606-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738606
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738606
    reference: chr 19
allele count: 2
allele frequency: 1.654916757687088e-5
allele num: 120852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.97T>C
  hgvsp: ENSP00000466612.1:p.Trp33Arg
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1629T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.165T>C
  hgvsp: ENST00000407327.4:c.165T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.171T>C
  hgvsp: ENST00000335757.5:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1629T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1629T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-379T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.171T>C
  hgvsp: ENST00000586078.1:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.171T>C
  hgvsp: ENST00000588409.1:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp33Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-10738609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738609
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738609
    reference: chr 19
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.174A>G
  hgvsp: ENST00000335757.5:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.100A>G
  hgvsp: ENSP00000466612.1:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.174A>G
  hgvsp: ENST00000588409.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.174A>G
  hgvsp: ENST00000586078.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1632A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1632A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-376A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.168A>G
  hgvsp: ENST00000407327.4:c.168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1632A>G
  variant of: http://identifiers.org/hgnc/17292
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg34Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum

19-10738613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738613
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738613
    reference: chr 19
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1636C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1636C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-372C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.178C>T
  hgvsp: ENSP00000336888.4:p.Pro60Ser
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.178C>T
  hgvsp: ENSP00000466664.1:p.Pro60Ser
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1636C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.178C>T
  hgvsp: ENSP00000468070.1:p.Pro60Ser
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.104C>T
  hgvsp: ENSP00000466612.1:p.Pro35Leu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.172C>T
  hgvsp: ENSP00000385135.3:p.Pro58Ser
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro60Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-10738616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738616
    reference: chr 19
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1639C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.107C>T
  hgvsp: ENSP00000466612.1:p.Ser36Leu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.181C>T
  hgvsp: ENSP00000468070.1:p.Arg61Ter
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.181C>T
  hgvsp: ENSP00000466664.1:p.Arg61Ter
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-369C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1639C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.181C>T
  hgvsp: ENSP00000336888.4:p.Arg61Ter
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1639C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.175C>T
  hgvsp: ENSP00000385135.3:p.Arg59Ter
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg61Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-10738617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738617
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738617
    reference: chr 19
allele count: 2
allele frequency: 1.655793621882969e-5
allele num: 120788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.182G>A
  hgvsp: ENSP00000466664.1:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.108G>A
  hgvsp: ENST00000592293.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.176G>A
  hgvsp: ENSP00000385135.3:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1640G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.182G>A
  hgvsp: ENSP00000468070.1:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1640G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.182G>A
  hgvsp: ENSP00000336888.4:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1640G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-368G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg61Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

19-10738624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738624
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738624
    reference: chr 19
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.189G>A
  hgvsp: ENST00000588409.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.115G>A
  hgvsp: ENSP00000466612.1:p.Asp39Asn
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.189G>A
  hgvsp: ENST00000335757.5:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1647G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.189G>A
  hgvsp: ENST00000586078.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.183G>A
  hgvsp: ENST00000407327.4:c.183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-361G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1647G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1647G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11537
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp39Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-10738625-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738625
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738625
    reference: chr 19
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.116A>T
  hgvsp: ENSP00000466612.1:p.Asp39Val
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1648A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.190A>T
  hgvsp: ENSP00000466664.1:p.Ile64Phe
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-360A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1648A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1648A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.190A>T
  hgvsp: ENSP00000336888.4:p.Ile64Phe
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.184A>T
  hgvsp: ENSP00000385135.3:p.Ile62Phe
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.190A>T
  hgvsp: ENSP00000468070.1:p.Ile64Phe
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile64Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-10738626-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738626
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738626
    reference: chr 19
allele count: 3
allele frequency: 2.482128673550437e-5
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.185T>C
  hgvsp: ENSP00000385135.3:p.Ile62Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.191T>C
  hgvsp: ENSP00000468070.1:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1649T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.191T>C
  hgvsp: ENSP00000336888.4:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1649T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-359T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.117T>C
  hgvsp: ENST00000592293.1:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.191T>C
  hgvsp: ENSP00000466664.1:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1649T>C
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10715
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile64Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-10738633-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738633
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738633
    reference: chr 19
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.198C>G
  hgvsp: ENST00000588409.1:c.198C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1656C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.192C>G
  hgvsp: ENST00000407327.4:c.192C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.198C>G
  hgvsp: ENST00000586078.1:c.198C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.198C>G
  hgvsp: ENST00000335757.5:c.198C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1656C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-352C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.124C>G
  hgvsp: ENSP00000466612.1:p.His42Asp
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1656C>G
  variant of: http://identifiers.org/hgnc/17292
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His42Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

19-10738639-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738639
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738639
    reference: chr 19
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1662C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1662C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*1C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.204C>G
  hgvsp: ENSP00000466664.1:p.Asp68Glu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-346C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.198C>G
  hgvsp: ENSP00000385135.3:p.Asp66Glu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.204C>G
  hgvsp: ENSP00000468070.1:p.Asp68Glu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1662C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.204C>G
  hgvsp: ENSP00000336888.4:p.Asp68Glu
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp68Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-10738639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738639
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738639
    reference: chr 19
allele count: 95598
allele frequency: 7.93225908163096e-1
allele num: 120518
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.204C>T
  hgvsp: ENST00000335757.5:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1662C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-346C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.204C>T
  hgvsp: ENST00000586078.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1662C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.204C>T
  hgvsp: ENST00000588409.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.198C>T
  hgvsp: ENST00000407327.4:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1662C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.25e1
  variant carriers: 603
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 1498
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.25e1
  variant carriers: 882
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 8.75e1
  variant carriers: 641
genotype depth: GenotypeDepth
  all individuals: 6938
  bin: 2.25e1
  variant carriers: 6284
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.75e1
  variant carriers: 862
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 1079
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 1.75e1
  variant carriers: 3035
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.25e1
  variant carriers: 8542
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 2.75e1
  variant carriers: 8649
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 5.25e1
  variant carriers: 2760
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 5.75e1
  variant carriers: 1908
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 9.75e1
  variant carriers: 2560
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 4.25e1
  variant carriers: 5452
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.75e1
  variant carriers: 3855
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 6.75e1
  variant carriers: 1247
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.25e1
  variant carriers: 812
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 3.75e1
  variant carriers: 7143
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 2386
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.25e1
  variant carriers: 409
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 5.75e1
  variant carriers: 812
hgvs: p.Asp68Asp
num of homozygotes: 38029
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

19-10738643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738643
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738643
    reference: chr 19
allele count: 16
allele frequency: 1.389998957500782e-4
allele num: 115108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-342C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.208C>T
  hgvsp: ENSP00000336888.4:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.208C>T
  hgvsp: ENSP00000466664.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.208C>T
  hgvsp: ENSP00000468070.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1666C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1666C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.202C>T
  hgvsp: ENSP00000385135.3:p.Arg68Trp
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1666C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25741
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15053
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg70Trp
num of homozygotes: 1
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-10738644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738644
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738644
    reference: chr 19
allele count: 2
allele frequency: 1.74188716054974e-5
allele num: 114818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.209G>A
  hgvsp: ENSP00000466664.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1667G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-341G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1667G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.209G>A
  hgvsp: ENSP00000336888.4:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.209G>A
  hgvsp: ENSP00000468070.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.203G>A
  hgvsp: ENSP00000385135.3:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1667G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg70Gln
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

19-10738649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738649
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738649
    reference: chr 19
allele count: 3
allele frequency: 2.645829291094139e-5
allele num: 113386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1672G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.214G>A
  hgvsp: ENSP00000336888.4:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.214G>A
  hgvsp: ENSP00000468070.1:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1672G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-336G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.208G>A
  hgvsp: ENSP00000385135.3:p.Glu70Lys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.214G>A
  hgvsp: ENSP00000466664.1:p.Glu72Lys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1672G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14710
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu72Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

19-10738657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738657
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738657
    reference: chr 19
allele count: 2
allele frequency: 1.800147612104192e-5
allele num: 111102
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.222C>T
  hgvsp: ENST00000335757.5:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1680C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.216C>T
  hgvsp: ENST00000407327.4:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.222C>T
  hgvsp: ENST00000586078.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1680C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.222C>T
  hgvsp: ENST00000588409.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1680C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-328C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22693
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Cys74Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

19-10738658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738658
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738658
    reference: chr 19
allele count: 1
allele frequency: 9.085292728131701e-6
allele num: 110068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1681G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1681G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.223G>A
  hgvsp: ENSP00000336888.4:p.Gly75Arg
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.217G>A
  hgvsp: ENSP00000385135.3:p.Gly73Arg
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.223G>A
  hgvsp: ENSP00000466664.1:p.Gly75Arg
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*20G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1681G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-327G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.223G>A
  hgvsp: ENSP00000468070.1:p.Gly75Arg
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13511
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly75Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

19-10738678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738678
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738678
    reference: chr 19
allele count: 4
allele frequency: 3.870043924998549e-5
allele num: 103358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1701C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-307C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.243C>T
  hgvsp: ENST00000335757.5:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1701C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.243C>T
  hgvsp: ENST00000588409.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.237C>T
  hgvsp: ENST00000407327.4:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1701C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.243C>T
  hgvsp: ENST00000586078.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
hgvs: c.243C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

19-10738679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738679
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738679
    reference: chr 19
allele count: 1
allele frequency: 9.761811792268646e-6
allele num: 102440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.244G>A
  hgvsp: ENSP00000468070.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.238G>A
  hgvsp: ENSP00000385135.3:p.Glu80Lys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.244G>A
  hgvsp: ENSP00000466664.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.244G>A
  hgvsp: ENSP00000336888.4:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1702G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1702G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-306G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1702G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23544
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu82Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-10738684-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738684
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738684
    reference: chr 19
allele count: 1
allele frequency: 9.957184108334163e-6
allele num: 100430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+4A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1707A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+4A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1707A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+4A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+4A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+4A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1707A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+4A>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
hgvs: c.245+4A>T
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-10738687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738687
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738687
    reference: chr 19
allele count: 1
allele frequency: 1.016756141207093e-5
allele num: 98352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+7T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+7T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1710T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+7T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+7T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1710T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+7T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+7T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1710T>C
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
hgvs: c.245+7T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

19-10738688-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738688
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738688
    reference: chr 19
allele count: 2
allele frequency: 2.065688907250568e-5
allele num: 96820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1711G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1711G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+8G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1711G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+8G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+8G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+8G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+8G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+8G>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 3.75e1
  variant carriers: 0
hgvs: c.245+8G>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

19-10738693-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738693
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738693
    reference: chr 19
allele count: 1
allele frequency: 1.055899309441852e-5
allele num: 94706
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+13C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+13C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+13C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1716C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+13C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1716C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1716C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+13C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+13C>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-10738697-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738697
    reference: chr 19
allele count: 2
allele frequency: 2.177795200139379e-5
allele num: 91836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+17C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1720C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+17C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+17C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+17C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+17C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1720C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+17C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1720C>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23120
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

19-10738697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738697
    reference: chr 19
allele count: 2
allele frequency: 2.177795200139379e-5
allele num: 91836
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1720C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1720C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1720C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+17C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

19-10738698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738698
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738698
    reference: chr 19
allele count: 2
allele frequency: 2.22662599363185e-5
allele num: 89822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1721G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1721G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1721G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13147
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-10738704-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738704
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738704
    reference: chr 19
allele count: 4
allele frequency: 4.60161516692359e-5
allele num: 86926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+24G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1727G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+24G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+24G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+24G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1727G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+24G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+24G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1727G>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24167
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-10738706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738706
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738706
    reference: chr 19
allele count: 3
allele frequency: 3.4898329533293e-5
allele num: 85964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+26G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1729G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+26G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1729G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+26G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+26G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1729G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+26G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+26G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24076
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

19-10738707-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738707
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738707
    reference: chr 19
allele count: 1
allele frequency: 1.173268256054064e-5
allele num: 85232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+27G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+27G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+27G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1730G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+27G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+27G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1730G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+27G>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1730G>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

19-10738726-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738726
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738726
    reference: chr 19
allele count: 1
allele frequency: 1.475230873631723e-5
allele num: 67786
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+46A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1749A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+46A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+46A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+46A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+46A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1749A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+46A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1749A>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18459
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21144
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5611
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

19-10738732-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10738732
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10738732
    reference: chr 19
allele count: 1
allele frequency: 1.55860349127182e-5
allele num: 64160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+52T>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.80+1755T>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.86+1755T>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.245+52T>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-305+52T>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*42+52T>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.245+52T>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.154+1755T>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.239+52T>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18120
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9732
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6336
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-10741691-A-AAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741691
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741693
    reference: chr 19
allele count: 6
allele frequency: 4.981981832372918e-5
allele num: 120434
alternate allele: AAC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3012_245+3013insCA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-304-41_-304-40insCA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.87-41_87-40insCA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.81-41_81-40insCA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*43-41_*43-40insCA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.240-41_240-40insCA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.155-41_155-40insCA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.246-41_246-40insCA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.246-41_246-40insCA
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35599
  bin: 9.75e1
  variant carriers: 6
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: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-10741691-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741691
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741692
    reference: chr 19
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: AG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.246-42_246-41insG
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.240-42_240-41insG
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3011_245+3012insG
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-304-42_-304-41insG
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*43-42_*43-41insG
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.87-42_87-41insG
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.246-42_246-41insG
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.81-42_81-41insG
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.155-42_155-41insG
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

19-10741692-A-AAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741692
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741695
    reference: chr 19
allele count: 12
allele frequency: 9.962970957939657e-5
allele num: 120446
alternate allele: AAAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.81-39_81-38insTAA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3014_245+3015insTAA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-304-39_-304-38insTAA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.246-39_246-38insTAA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.87-39_87-38insTAA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.240-39_240-38insTAA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*43-39_*43-38insTAA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.155-39_155-38insTAA
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.246-39_246-38insTAA
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35602
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-10741695-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741695
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741696
    reference: chr 19
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.87-38_87-37insT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3015_245+3016insT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.155-38_155-37insT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.81-38_81-37insT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*43-38_*43-37insT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.240-38_240-37insT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.246-38_246-37insT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-304-38_-304-37insT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.246-38_246-37insT
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

19-10741696-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741696
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741695
    reference: chr 19
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.155-36delT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.240-36delT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.246-36delT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-304-36delT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3017delT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*43-36delT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.246-36delT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.81-36delT
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.87-36delT
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35607
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: AT
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-10741697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741697
    reference: chr 19
allele count: 1
allele frequency: 8.629616845012081e-6
allele num: 115880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.155-36T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.81-36T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.87-36T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.246-36T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.246-36T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*43-36T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-304-36T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.240-36T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3017T>C
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-10741725-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741725
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741725
    reference: chr 19
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3045A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.155-8A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.240-8A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.246-8A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.246-8A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-304-8A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.87-8A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*43-8A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.81-8A>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: c.246-8A>G
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

19-10741735-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741735
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741735
    reference: chr 19
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.248A>T
  hgvsp: ENSP00000336888.4:p.Asn83Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-302A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.242A>T
  hgvsp: ENSP00000385135.3:p.Asn81Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.89A>T
  hgvsp: ENSP00000467552.1:p.Asn30Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3055A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.157A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.248A>T
  hgvsp: ENSP00000466664.1:p.Asn83Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*45A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.83A>T
  hgvsp: ENSP00000468691.1:p.Asn28Ile
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn83Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

19-10741744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741744
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741744
    reference: chr 19
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.98A>G
  hgvsp: ENSP00000467552.1:p.Tyr33Cys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.92A>G
  hgvsp: ENSP00000468691.1:p.Tyr31Cys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.257A>G
  hgvsp: ENSP00000336888.4:p.Tyr86Cys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.257A>G
  hgvsp: ENSP00000466664.1:p.Tyr86Cys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3064A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.166A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.251A>G
  hgvsp: ENSP00000385135.3:p.Tyr84Cys
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*54A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-293A>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr86Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/19-10741768-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741768
    reference: chr 19
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.116A>C
  hgvsp: ENSP00000468691.1:p.Lys39Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.122A>C
  hgvsp: ENSP00000467552.1:p.Lys41Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*78A>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.281A>C
  hgvsp: ENSP00000466664.1:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3088A>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.281A>C
  hgvsp: ENSP00000336888.4:p.Lys94Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.275A>C
  hgvsp: ENSP00000385135.3:p.Lys92Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-269A>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.190A>C
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys94Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-10741773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741773
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741773
    reference: chr 19
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-264G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.127G>A
  hgvsp: ENSP00000467552.1:p.Ala43Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.195G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.280G>A
  hgvsp: ENSP00000385135.3:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.286G>A
  hgvsp: ENSP00000466664.1:p.Ala96Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.286G>A
  hgvsp: ENSP00000336888.4:p.Ala96Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.121G>A
  hgvsp: ENSP00000468691.1:p.Ala41Thr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3093G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*83G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala96Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

19-10741778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741778
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741778
    reference: chr 19
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.291C>T
  hgvsp: ENST00000586078.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.132C>T
  hgvsp: ENST00000588688.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.200C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.126C>T
  hgvsp: ENST00000590382.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*88C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.285C>T
  hgvsp: ENST00000407327.4:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.291C>T
  hgvsp: ENST00000335757.5:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3098C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-259C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser97Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

19-10741779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741779
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741779
    reference: chr 19
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-258C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.292C>T
  hgvsp: ENSP00000466664.1:p.Pro98Ser
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.201C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.127C>T
  hgvsp: ENSP00000468691.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.292C>T
  hgvsp: ENSP00000336888.4:p.Pro98Ser
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.286C>T
  hgvsp: ENSP00000385135.3:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*89C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.133C>T
  hgvsp: ENSP00000467552.1:p.Pro45Ser
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3099C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro98Ser
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: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-10741785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741785
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741785
    reference: chr 19
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.133G>A
  hgvsp: ENSP00000468691.1:p.Val45Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*95G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.298G>A
  hgvsp: ENSP00000336888.4:p.Val100Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.298G>A
  hgvsp: ENSP00000466664.1:p.Val100Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.292G>A
  hgvsp: ENSP00000385135.3:p.Val98Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.207G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.139G>A
  hgvsp: ENSP00000467552.1:p.Val47Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-252G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3105G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val100Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

19-10741796-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741796
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741796
    reference: chr 19
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.309A>T
  hgvsp: ENSP00000466664.1:p.Glu103Asp
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.150A>T
  hgvsp: ENSP00000467552.1:p.Glu50Asp
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*106A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.303A>T
  hgvsp: ENSP00000385135.3:p.Glu101Asp
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.218A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-241A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3116A>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.309A>T
  hgvsp: ENSP00000336888.4:p.Glu103Asp
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.144A>T
  hgvsp: ENSP00000468691.1:p.Glu48Asp
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu103Asp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-10741804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741804
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741804
    reference: chr 19
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.152G>A
  hgvsp: ENSP00000468691.1:p.Cys51Tyr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.158G>A
  hgvsp: ENSP00000467552.1:p.Cys53Tyr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*114G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.226G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.317G>A
  hgvsp: ENSP00000336888.4:p.Cys106Tyr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.317G>A
  hgvsp: ENSP00000466664.1:p.Cys106Tyr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.311G>A
  hgvsp: ENSP00000385135.3:p.Cys104Tyr
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3124G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-233G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys106Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-10741810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741810
    reference: chr 19
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.323C>T
  hgvsp: ENSP00000466664.1:p.Thr108Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.323C>T
  hgvsp: ENSP00000336888.4:p.Thr108Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-227C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.158C>T
  hgvsp: ENSP00000468691.1:p.Thr53Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3130C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.164C>T
  hgvsp: ENSP00000467552.1:p.Thr55Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.317C>T
  hgvsp: ENSP00000385135.3:p.Thr106Ile
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.232C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr108Ile
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

19-10741813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741813
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741813
    reference: chr 19
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.326C>T
  hgvsp: ENSP00000336888.4:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.167C>T
  hgvsp: ENSP00000467552.1:p.Pro56Leu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.161C>T
  hgvsp: ENSP00000468691.1:p.Pro54Leu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.235C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-224C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.326C>T
  hgvsp: ENSP00000466664.1:p.Pro109Leu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.320C>T
  hgvsp: ENSP00000385135.3:p.Pro107Leu
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*123C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3133C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro109Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

19-10741823-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741823
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741823
    reference: chr 19
allele count: 4
allele frequency: 3.296902560044838e-5
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+6C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+6C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+6C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+6C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+6C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+6C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+6C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+6C>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3143C>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: c.330+6C>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-10741828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741828
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741828
    reference: chr 19
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+11C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3148C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+11C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+11C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+11C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+11C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+11C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+11C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+11C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-10741830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741830
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741830
    reference: chr 19
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+13C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+13C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+13C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+13C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+13C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3150C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+13C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+13C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+13C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/19-10741834-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741834
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741834
    reference: chr 19
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+17C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+17C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+17C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+17C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+17C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+17C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+17C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+17C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3154C>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-10741834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741834
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741834
    reference: chr 19
allele count: 19
allele frequency: 1.567062006169276e-4
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3154C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+17C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+17C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-10741835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741835
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741835
    reference: chr 19
allele count: 8
allele frequency: 6.599462143835277e-5
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3155G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+18G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+18G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

19-10741841-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741841
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741841
    reference: chr 19
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+24T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+24T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+24T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3161T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+24T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+24T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+24T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+24T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+24T>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36274
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-10741853-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741853
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741853
    reference: chr 19
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+36C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+36C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+36C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+36C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+36C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+36C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+36C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3173C>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+36C>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-10741854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741854
    reference: chr 19
allele count: 264
allele frequency: 2.178433508268145e-3
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+37C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+37C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+37C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+37C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+37C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+37C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+37C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+37C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3174C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 7.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 8.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 9.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 3
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-10741855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741855
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741855
    reference: chr 19
allele count: 12
allele frequency: 9.90703895117481e-5
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+38G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3175G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+38G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+38G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+38G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+38G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+38G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+38G>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+38G>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

19-10741857-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741857
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741857
    reference: chr 19
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+40T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+40T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+40T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+40T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+40T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+40T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+40T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+40T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3177T>C
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5828
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-10741863-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741863
    reference: chr 19
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+46T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+46T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+46T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3183T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+46T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+46T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+46T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+46T>A
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+46T>A
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

19-10741869-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741869
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741869
    reference: chr 19
allele count: 12
allele frequency: 9.900009900009901e-5
allele num: 121212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*127+52T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.330+52T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-220+52T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.171+52T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.165+52T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.239+52T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.324+52T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3189T>C
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.330+52T>C
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4511
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-10741900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741900
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741900
    reference: chr 19
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.325-51C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*128-51C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.331-51C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3220C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.166-51C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.331-51C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.172-51C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-219-51C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.240-51C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26858
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

19-10741906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741906
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741906
    reference: chr 19
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.325-45C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*128-45C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.166-45C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.240-45C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-219-45C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.331-45C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3226C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.172-45C>T
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.331-45C>T
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26858
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-10741907-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 10741907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 10741907
    reference: chr 19
allele count: 96341
allele frequency: 7.938055139001038e-1
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466612
  ensembl transcript: ENST00000592293
  gene symbol: SLC44A2
  hgvsc: ENST00000592293.1:c.*128-44A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000465547
  ensembl transcript: ENST00000590857
  gene symbol: SLC44A2
  hgvsc: ENST00000590857.1:c.-219-44A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000467552
  ensembl transcript: ENST00000588688
  gene symbol: SLC44A2
  hgvsc: ENST00000588688.1:c.172-44A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468070
  ensembl transcript: ENST00000588409
  gene symbol: SLC44A2
  hgvsc: ENST00000588409.1:c.245+3227A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl transcript: ENST00000588465
  gene symbol: SLC44A2
  hgvsc: ENST00000588465.1:n.240-44A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000468691
  ensembl transcript: ENST00000590382
  gene symbol: SLC44A2
  hgvsc: ENST00000590382.1:c.166-44A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000385135
  ensembl transcript: ENST00000407327
  gene symbol: SLC44A2
  hgvsc: ENST00000407327.4:c.325-44A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000466664
  ensembl transcript: ENST00000586078
  gene symbol: SLC44A2
  hgvsc: ENST00000586078.1:c.331-44A>G
  variant of: http://identifiers.org/hgnc/17292
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129353
  ensembl protein: ENSP00000336888
  ensembl transcript: ENST00000335757
  gene symbol: SLC44A2
  hgvsc: ENST00000335757.5:c.331-44A>G
  variant of: http://identifiers.org/hgnc/17292
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 1314
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 5.75e1
  variant carriers: 1130
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 2031
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 4.25e1
  variant carriers: 1394
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 7.75e1
  variant carriers: 2534
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.25e1
  variant carriers: 523
genotype depth: GenotypeDepth
  all individuals: 31616
  bin: 9.75e1
  variant carriers: 31573
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 4.75e1
  variant carriers: 1184
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 6.25e1
  variant carriers: 1243
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 9.25e1
  variant carriers: 3467
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 8.25e1
  variant carriers: 2888
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.75e1
  variant carriers: 925
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 8.75e1
  variant carriers: 3374
num of homozygotes: 38400
reference allele: A

GenotypeQuality
all individuals: 657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4705
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 8.916e0

VQSLOD
type: SiteQuality
SIO_000300: -2.048e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

DP
type: SiteQuality
SIO_000300: 2.151005e6

GenotypeQuality
all individuals: 662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4091
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.428953121204761e-4
allele num: 16468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.060606060606061e-4
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 152
allele frequency: 2.285370620959254e-3
allele num: 66510
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.610057421263268e-4
allele num: 11494
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.389e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 1.42e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 2.149467e6

GenotypeQuality
all individuals: 963
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11935
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
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: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.241e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.008e1

DP
type: SiteQuality
SIO_000300: 2.099525e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.071e0

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11936
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1078
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4292
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
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: 16458
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.068000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

DP
type: SiteQuality
SIO_000300: 2.099718e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.709e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 871
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11939
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1051
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19152
bin: 6.25e1
variant carriers: 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: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
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: 2
allele frequency: 3.011685339115769e-5
allele num: 66408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.098475e6

FS
type: SiteQuality
SIO_000300: 6.813e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.174e1

GenotypeQuality
all individuals: 539
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4372
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3422
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1883
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7479
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 11474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 1.463e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 4.041e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.095468e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 19616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3774
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11973
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 673
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011231894968231e-5
allele num: 66418
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: 6578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.093544e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.2105e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: -5.296e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

GenotypeQuality
all individuals: 962
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 860
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
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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: 6580
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: 11484
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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QD
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DP
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQRankSum
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SIO_000300: -1.46e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

FS
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

Other
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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: 6576
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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MQ
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BaseQRankSum
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FS
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SIO_000300: 4.193e0

ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
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South Asian
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allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

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

InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66384
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
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: 2
allele frequency: 1.93012931866435e-4
allele num: 10362
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
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SIO_000300: 2.9e-2

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

FS
type: SiteQuality
SIO_000300: 4.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.035e0

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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num of homozygotes: 0

African
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allele num: 10364
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East Asian
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South Asian
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MQRankSum
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QD
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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allele num: 66402
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Other
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African
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.079766536964981e-5
allele num: 16448
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: 66224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
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: 11472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

DP
type: SiteQuality
SIO_000300: 2.528536e6

FS
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.023e0

QD
type: SiteQuality
SIO_000300: 2.421e1

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 72

GenotypeQuality
all individuals: 199
bin: 2.25e1
variant carriers: 117

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 61

GenotypeQuality
all individuals: 2306
bin: 9.25e1
variant carriers: 2279

GenotypeQuality
all individuals: 1260
bin: 7.25e1
variant carriers: 1165

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 276

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 45

GenotypeQuality
all individuals: 40322
bin: 9.75e1
variant carriers: 40232

GenotypeQuality
all individuals: 1170
bin: 5.25e1
variant carriers: 1141

GenotypeQuality
all individuals: 851
bin: 4.75e1
variant carriers: 822

GenotypeQuality
all individuals: 173
bin: 2.75e1
variant carriers: 156

GenotypeQuality
all individuals: 450
bin: 3.75e1
variant carriers: 440

GenotypeQuality
all individuals: 2350
bin: 6.75e1
variant carriers: 2041

GenotypeQuality
all individuals: 1315
bin: 8.75e1
variant carriers: 1297

GenotypeQuality
all individuals: 2451
bin: 7.75e1
variant carriers: 2361

GenotypeQuality
all individuals: 3552
bin: 6.25e1
variant carriers: 1727

European (Finnish)
type: Population
allele count: 5395
allele frequency: 8.231614281354898e-1
allele num: 6554
num of homozygotes: 2214

Latino
type: Population
allele count: 10127
allele frequency: 8.827580195258019e-1
allele num: 11472
num of homozygotes: 4476

African
type: Population
allele count: 8657
allele frequency: 8.365867800541167e-1
allele num: 10348
num of homozygotes: 3631

Other
type: Population
allele count: 701
allele frequency: 7.737306843267108e-1
allele num: 906
num of homozygotes: 270

East Asian
type: Population
allele count: 5888
allele frequency: 6.873686668223208e-1
allele num: 8566
num of homozygotes: 2011

South Asian
type: Population
allele count: 12549
allele frequency: 7.629499027237354e-1
allele num: 16448
num of homozygotes: 4801

European (Non-Finnish)
type: Population
allele count: 52281
allele frequency: 7.894569944431022e-1
allele num: 66224
num of homozygotes: 20626

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

QD
type: SiteQuality
SIO_000300: 2.421e1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.023e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

DP
type: SiteQuality
SIO_000300: 2.528536e6

GenotypeQuality
all individuals: 5797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.519050318030103e-4
allele num: 63516
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

DP
type: SiteQuality
SIO_000300: 1.539071e6

FS
type: SiteQuality
SIO_000300: 1.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.126e1

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7089
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 36930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5998
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 748
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 337
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variant carriers: 0

GenotypeQuality
all individuals: 358
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variant carriers: 0

GenotypeQuality
all individuals: 325
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variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579030475288173e-5
allele num: 63330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.316e0

FS
type: SiteQuality
SIO_000300: 4.518e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.534182e6

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.604e1

GenotypeQuality
all individuals: 1557
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35097
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 1
allele frequency: 1.036269430051813e-4
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.195602850477743e-5
allele num: 62586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

DP
type: SiteQuality
SIO_000300: 1.49773e6

FS
type: SiteQuality
SIO_000300: 1.138e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.864e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 771
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
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variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 1461
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variant carriers: 1

GenotypeQuality
all individuals: 1221
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variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 280
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GenotypeQuality
all individuals: 836
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variant carriers: 0

GenotypeQuality
all individuals: 301
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GenotypeQuality
all individuals: 1253
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GenotypeQuality
all individuals: 6340
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variant carriers: 0

GenotypeQuality
all individuals: 1428
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variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15380
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.111486486486487e-4
allele num: 9472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61460
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 1.453416e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.971e0

QD
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
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variant carriers: 0

GenotypeQuality
all individuals: 5895
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variant carriers: 0

GenotypeQuality
all individuals: 1441
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variant carriers: 0

GenotypeQuality
all individuals: 826
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variant carriers: 0

GenotypeQuality
all individuals: 117
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GenotypeQuality
all individuals: 10940
bin: 2.25e1
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GenotypeQuality
all individuals: 1326
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GenotypeQuality
all individuals: 1184
bin: 5.75e1
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GenotypeQuality
all individuals: 650
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GenotypeQuality
all individuals: 1458
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.6411737674785e-5
allele num: 60932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.818e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 4.2e0

DP
type: SiteQuality
SIO_000300: 1.426577e6

VQSLOD
type: SiteQuality
SIO_000300: -2.008e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 9.289999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
all individuals: 18461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
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variant carriers: 0

GenotypeQuality
all individuals: 2247
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GenotypeQuality
all individuals: 373
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GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 490
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GenotypeQuality
all individuals: 304
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GenotypeQuality
all individuals: 4678
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GenotypeQuality
all individuals: 486
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 25094
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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: 461
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variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.223932576443547e-5
allele num: 57428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.814774430966335e-5
allele num: 14674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9026
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.251e1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.271644e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.28e-1

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2424
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 940
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variant carriers: 0

GenotypeQuality
all individuals: 266
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variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 7.5e0
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GenotypeQuality
all individuals: 531
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GenotypeQuality
all individuals: 951
bin: 7.25e1
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GenotypeQuality
all individuals: 2681
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 19389
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GenotypeQuality
all individuals: 247
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GenotypeQuality
all individuals: 763
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GenotypeQuality
all individuals: 1430
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GenotypeQuality
all individuals: 234
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GenotypeQuality
all individuals: 1051
bin: 3.75e1
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GenotypeQuality
all individuals: 4510
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.146788990825688e-4
allele num: 8720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7322
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14600
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56918
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

VQSLOD
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ClippingRankSum
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SIO_000300: 5.38e-1

MQRankSum
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SIO_000300: -5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.422e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

FS
type: SiteQuality
SIO_000300: 5.483e0

QD
type: SiteQuality
SIO_000300: 1.027e1

DP
type: SiteQuality
SIO_000300: 1.251016e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14418
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.792371666188701e-5
allele num: 55792
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 4.389e0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.198331e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.125e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.831904447863999e-5
allele num: 54588
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7014
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.226e1

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

DP
type: SiteQuality
SIO_000300: 1.139429e6

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.721345638582912e-5
allele num: 53744
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14108
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.237e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

DP
type: SiteQuality
SIO_000300: 1.103006e6

InbreedingCoeff
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SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6674
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.184940364994971e-5
allele num: 13918
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.054649e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

FS
type: SiteQuality
SIO_000300: 8.006e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

QD
type: SiteQuality
SIO_000300: 1.147e1

MQRankSum
type: SiteQuality
SIO_000300: -1.228e0

VQSLOD
type: SiteQuality
SIO_000300: -3.731e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.106554830692762e-4
allele num: 6438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51082
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
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51082
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
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South Asian
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allele count: 1
allele frequency: 7.331378299120235e-5
allele num: 13640
num of homozygotes: 0

Latino
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allele frequency: 1.331203407880724e-4
allele num: 7512
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.002081082162725e-5
allele num: 49974
num of homozygotes: 0

East Asian
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Latino
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South Asian
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Other
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European (Finnish)
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DP
type: SiteQuality
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FS
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VQSLOD
type: SiteQuality
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6864
num of homozygotes: 0

East Asian
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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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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.261731658955717e-5
allele num: 48416
num of homozygotes: 0

Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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QD
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ReadPosRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

FS
type: SiteQuality
SIO_000300: 1.115e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.087e0

DP
type: SiteQuality
SIO_000300: 9.26784e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 6.269068416433318e-5
allele num: 47854
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4312
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

DP
type: SiteQuality
SIO_000300: 9.16807e5

MQ
type: SiteQuality
SIO_000300: 5.878e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.924e1

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.360174102285093e-4
allele num: 7352
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47438
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 9.09261e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

FS
type: SiteQuality
SIO_000300: 3.209e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

QD
type: SiteQuality
SIO_000300: 1.527e1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.652379184128163e-5
allele num: 37702
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6050
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11720
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3280
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.042e0

BaseQRankSum
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SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 8.02071e5

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.808042232955184e-5
allele num: 35612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 7.98908e5

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.337e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.96217219772569e-4
allele num: 8618
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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QD
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DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele num: 906
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 frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
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allele frequency: 1.16144018583043e-4
allele num: 8610
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African
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South Asian
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allele frequency: 5.571375510709422e-4
allele num: 16154
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ReadPosRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.718e1

QD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

Other
type: Population
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allele num: 906
num of homozygotes: 0

South Asian
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allele frequency: 6.192717364379489e-5
allele num: 16148
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African
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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: 6608
num of homozygotes: 0

Latino
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 1.504800312998465e-5
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Other
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FS
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VQSLOD
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QD
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Latino
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East Asian
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Other
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QD
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FS
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele num: 66662
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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Other
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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QD
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VQSLOD
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MQ
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DP
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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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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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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VQSLOD
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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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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East Asian
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Latino
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allele frequency: 0.0e0
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African
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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Other
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European (Finnish)
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BaseQRankSum
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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East Asian
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Latino
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European (Finnish)
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QD
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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allele num: 66718
num of homozygotes: 0

Latino
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South Asian
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66714
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 3.644637e6

FS
type: SiteQuality
SIO_000300: 8.763999999999999e0

QD
type: SiteQuality
SIO_000300: 1.379e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.324e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2750
bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
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: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: -6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.35e-2

MQ
type: SiteQuality
SIO_000300: 5.814e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 3.643914e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499775011249437e-5
allele num: 66670
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.183137525915688e-4
allele num: 11576
num of homozygotes: 0

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

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: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.480453050785532e-4
allele num: 16422
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

FS
type: SiteQuality
SIO_000300: 1.83e0

VQSLOD
type: SiteQuality
SIO_000300: -6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.814e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.35e-2

DP
type: SiteQuality
SIO_000300: 3.643914e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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: 8652
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

African
type: Population
allele count: 6
allele frequency: 5.76923076923077e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218472036066772e-4
allele num: 16414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.381e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.817e1

DP
type: SiteQuality
SIO_000300: 3.643833e6

FS
type: SiteQuality
SIO_000300: 3.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
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: 11574
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.062e0

QD
type: SiteQuality
SIO_000300: 1.692e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.073e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

VQSLOD
type: SiteQuality
SIO_000300: -1.983e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.109e0

DP
type: SiteQuality
SIO_000300: 3.643038e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 1.5964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.747e1

QD
type: SiteQuality
SIO_000300: 1.064e1

VQSLOD
type: SiteQuality
SIO_000300: -2.641e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.906e0

DP
type: SiteQuality
SIO_000300: 3.640623e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 261

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 100
allele frequency: 1.500510173458976e-3
allele num: 66644
num of homozygotes: 1

Other
type: Population
allele count: 6
allele frequency: 6.63716814159292e-3
allele num: 904
num of homozygotes: 1

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: 157
allele frequency: 2.373752645902631e-2
allele num: 6614
num of homozygotes: 1

South Asian
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allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.872e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 3.642995e6

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 12
allele frequency: 7.330482590103849e-4
allele num: 16370
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 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: 66626
num of homozygotes: 0

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

African
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.308e1

DP
type: SiteQuality
SIO_000300: 3.642898e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
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: 5.81e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.4e-3

VQSLOD
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FS
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ClippingRankSum
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SIO_000300: -2.197e0

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3627
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.97e-1

FS
type: SiteQuality
SIO_000300: 6.865e0

VQSLOD
type: SiteQuality
SIO_000300: -8.595e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 3.644067e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.76e-1

GenotypeQuality
all individuals: 3604
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36411
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 5452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
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: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

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

African
type: Population
allele count: 12
allele frequency: 1.153180857197771e-3
allele num: 10406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 3.646205e6

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

QD
type: SiteQuality
SIO_000300: 1.433e1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 908
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 53795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
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: 906
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: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.57e1

VQSLOD
type: SiteQuality
SIO_000300: -3.22e-2

FS
type: SiteQuality
SIO_000300: 5.568e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 5.454612e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.707e0

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

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53800
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.987e0

DP
type: SiteQuality
SIO_000300: 5.455874e6

QD
type: SiteQuality
SIO_000300: 1.547e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0