17-19463494-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463494
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463494
    reference: chr 17
allele count: 1
allele frequency: 1.058133875097877e-5
allele num: 94506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.922-7A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.365-7A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.337-7A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*89-7A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.243A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.853-7A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.922-7A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.187-7A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.660T>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.922-7A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4119A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10504A>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29176
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.922-7A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-19463498-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463498
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463498
    reference: chr 17
allele count: 2
allele frequency: 2.013044528544971e-5
allele num: 99352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10508T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.187-3T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.922-3T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.656A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4123T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.247T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.365-3T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.853-3T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.337-3T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*89-3T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.922-3T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.922-3T>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.922-3T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-19463500-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463500
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463500
    reference: chr 17
allele count: 1
allele frequency: 9.867771857114663e-6
allele num: 101340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.337-1G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.922-1G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.654C>A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.922-1G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4125G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*89-1G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.853-1G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.922-1G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.187-1G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.365-1G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.249G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10510G>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33292
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.922-1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

17-19463501-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463501
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463501
    reference: chr 17
allele count: 1
allele frequency: 9.740512740590664e-6
allele num: 102664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.250G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.922G>T
  hgvsp: ENSP00000270570.4:p.Val308Phe
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*89G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4126G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.853G>T
  hgvsp: ENSP00000407155.2:p.Val285Phe
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.653C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.922G>T
  hgvsp: ENSP00000378951.1:p.Val308Phe
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.922G>T
  hgvsp: ENSP00000415586.1:p.Val308Phe
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.337G>T
  hgvsp: ENSP00000462630.1:p.Val113Phe
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.187G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10511G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.365G>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34038
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val308Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

17-19463506-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463506
    reference: chr 17
allele count: 1
allele frequency: 9.245049276112642e-6
allele num: 108166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.858T>C
  hgvsp: ENST00000436810.2:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.342T>C
  hgvsp: ENST00000571335.1:c.342T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.648A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*94T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.927T>C
  hgvsp: ENST00000395585.1:c.927T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4131T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.927T>C
  hgvsp: ENST00000270570.4:c.927T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.927T>C
  hgvsp: ENST00000457293.1:c.927T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.370T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.192T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10516T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.255T>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro309Pro
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-19463509-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463509
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463509
    reference: chr 17
allele count: 1
allele frequency: 9.049446173894157e-6
allele num: 110504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.195A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.645T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.258A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.930A>C
  hgvsp: ENST00000457293.1:c.930A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*97A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.930A>C
  hgvsp: ENST00000395585.1:c.930A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.373A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.345A>C
  hgvsp: ENST00000571335.1:c.345A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10519A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.930A>C
  hgvsp: ENST00000270570.4:c.930A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.861A>C
  hgvsp: ENST00000436810.2:c.861A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4134A>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37671
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala310Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-19463515-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463515
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463515
    reference: chr 17
allele count: 1
allele frequency: 8.816787162757892e-6
allele num: 113420
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.379C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.936C>G
  hgvsp: ENSP00000415586.1:p.Phe312Leu
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.936C>G
  hgvsp: ENSP00000270570.4:p.Phe312Leu
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.201C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.936C>G
  hgvsp: ENSP00000378951.1:p.Phe312Leu
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*103C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.639G>C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.264C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.351C>G
  hgvsp: ENSP00000462630.1:p.Phe117Leu
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4140C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10525C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.867C>G
  hgvsp: ENSP00000407155.2:p.Phe289Leu
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe312Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-19463517-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463517
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463517
    reference: chr 17
allele count: 4
allele frequency: 3.505389536412234e-5
allele num: 114110
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.637C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4142G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*105G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.353G>T
  hgvsp: ENSP00000462630.1:p.Ser118Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.203G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.938G>T
  hgvsp: ENSP00000270570.4:p.Ser313Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.266G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.938G>T
  hgvsp: ENSP00000415586.1:p.Ser313Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.938G>T
  hgvsp: ENSP00000378951.1:p.Ser313Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.869G>T
  hgvsp: ENSP00000407155.2:p.Ser290Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.381G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10527G>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser313Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-19463524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463524
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463524
    reference: chr 17
allele count: 1
allele frequency: 8.657708823936834e-6
allele num: 115504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*112T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.876T>C
  hgvsp: ENST00000436810.2:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.630A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.945T>C
  hgvsp: ENST00000270570.4:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.945T>C
  hgvsp: ENST00000395585.1:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.388T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.945T>C
  hgvsp: ENST00000457293.1:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10534T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4149T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.210T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.273T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.360T>C
  hgvsp: ENST00000571335.1:c.360T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala315Ala
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: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

17-19463524-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463524
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463524
    reference: chr 17
allele count: 2
allele frequency: 1.731541764787367e-5
allele num: 115504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.945T>G
  hgvsp: ENST00000457293.1:c.945T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.210T>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4149T>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.360T>G
  hgvsp: ENST00000571335.1:c.360T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10534T>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.876T>G
  hgvsp: ENST00000436810.2:c.876T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.945T>G
  hgvsp: ENST00000395585.1:c.945T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.945T>G
  hgvsp: ENST00000270570.4:c.945T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.630A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.273T>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*112T>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.388T>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala315Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-19463525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463525
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463525
    reference: chr 17
allele count: 3
allele frequency: 2.593405833434188e-5
allele num: 115678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.361G>A
  hgvsp: ENSP00000462630.1:p.Ala121Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.629C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4150G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.946G>A
  hgvsp: ENSP00000378951.1:p.Ala316Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*113G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.877G>A
  hgvsp: ENSP00000407155.2:p.Ala293Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.389G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.274G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.946G>A
  hgvsp: ENSP00000270570.4:p.Ala316Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.211G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10535G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.946G>A
  hgvsp: ENSP00000415586.1:p.Ala316Thr
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala316Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-19463534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463534
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463534
    reference: chr 17
allele count: 1
allele frequency: 8.553002959339024e-6
allele num: 116918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.620G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10544C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.955C>T
  hgvsp: ENSP00000415586.1:p.Arg319Trp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*122C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.955C>T
  hgvsp: ENSP00000270570.4:p.Arg319Trp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.370C>T
  hgvsp: ENSP00000462630.1:p.Arg124Trp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.955C>T
  hgvsp: ENSP00000378951.1:p.Arg319Trp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.283C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.886C>T
  hgvsp: ENSP00000407155.2:p.Arg296Trp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.398C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.220C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4159C>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9443
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg319Trp
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-19463535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463535
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463535
    reference: chr 17
allele count: 9
allele frequency: 7.686263792573361e-5
allele num: 117092
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.619C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.956G>A
  hgvsp: ENSP00000378951.1:p.Arg319Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.399G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.887G>A
  hgvsp: ENSP00000407155.2:p.Arg296Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.956G>A
  hgvsp: ENSP00000415586.1:p.Arg319Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.371G>A
  hgvsp: ENSP00000462630.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4160G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.956G>A
  hgvsp: ENSP00000270570.4:p.Arg319Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.284G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.221G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*123G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10545G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg319Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-19463535-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463535
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463535
    reference: chr 17
allele count: 1
allele frequency: 8.540293102859289e-6
allele num: 117092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.956G>C
  hgvsp: ENSP00000378951.1:p.Arg319Pro
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.371G>C
  hgvsp: ENSP00000462630.1:p.Arg124Pro
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.399G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.956G>C
  hgvsp: ENSP00000415586.1:p.Arg319Pro
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*123G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.619C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.284G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.956G>C
  hgvsp: ENSP00000270570.4:p.Arg319Pro
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.887G>C
  hgvsp: ENSP00000407155.2:p.Arg296Pro
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.221G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10545G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4160G>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg319Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-19463543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463543
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463543
    reference: chr 17
allele count: 1
allele frequency: 8.478887569950822e-6
allele num: 117940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.229A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.964A>G
  hgvsp: ENSP00000415586.1:p.Asn322Asp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.964A>G
  hgvsp: ENSP00000378951.1:p.Asn322Asp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*131A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.895A>G
  hgvsp: ENSP00000407155.2:p.Asn299Asp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.407A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.611T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.964A>G
  hgvsp: ENSP00000270570.4:p.Asn322Asp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.379A>G
  hgvsp: ENSP00000462630.1:p.Asn127Asp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.292A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4168A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10553A>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn322Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-19463545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463545
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463545
    reference: chr 17
allele count: 2
allele frequency: 1.69548999660902e-5
allele num: 117960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.231C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*133C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4170C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.966C>T
  hgvsp: ENST00000395585.1:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.897C>T
  hgvsp: ENST00000436810.2:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.966C>T
  hgvsp: ENST00000457293.1:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.609G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.381C>T
  hgvsp: ENST00000571335.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10555C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.294C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.966C>T
  hgvsp: ENST00000270570.4:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.409C>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38682
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn322Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-19463546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463546
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463546
    reference: chr 17
allele count: 1
allele frequency: 8.468547813420954e-6
allele num: 118084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*134G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.382G>A
  hgvsp: ENSP00000462630.1:p.Ala128Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.295G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4171G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10556G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.967G>A
  hgvsp: ENSP00000415586.1:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.967G>A
  hgvsp: ENSP00000378951.1:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.898G>A
  hgvsp: ENSP00000407155.2:p.Ala300Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.232G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.608C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.967G>A
  hgvsp: ENSP00000270570.4:p.Ala323Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.410G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala323Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-19463546-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463546
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463546
    reference: chr 17
allele count: 1
allele frequency: 8.468547813420954e-6
allele num: 118084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*134G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.967G>T
  hgvsp: ENSP00000415586.1:p.Ala323Ser
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.232G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.967G>T
  hgvsp: ENSP00000270570.4:p.Ala323Ser
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.608C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10556G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.967G>T
  hgvsp: ENSP00000378951.1:p.Ala323Ser
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.382G>T
  hgvsp: ENSP00000462630.1:p.Ala128Ser
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.410G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4171G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.295G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.898G>T
  hgvsp: ENSP00000407155.2:p.Ala300Ser
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala323Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

17-19463549-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463549
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463549
    reference: chr 17
allele count: 1
allele frequency: 8.45594452900389e-6
allele num: 118260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.970C>G
  hgvsp: ENSP00000270570.4:p.Leu324Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.413C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4174C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10559C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.901C>G
  hgvsp: ENSP00000407155.2:p.Leu301Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.298C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.970C>G
  hgvsp: ENSP00000415586.1:p.Leu324Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.970C>G
  hgvsp: ENSP00000378951.1:p.Leu324Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*137C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.385C>G
  hgvsp: ENSP00000462630.1:p.Leu129Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.605G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.235C>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu324Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/17-19463562-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463562
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463562
    reference: chr 17
allele count: 1
allele frequency: 8.419634587858886e-6
allele num: 118770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.983A>C
  hgvsp: ENSP00000378951.1:p.Asp328Ala
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.248A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.983A>C
  hgvsp: ENSP00000415586.1:p.Asp328Ala
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.311A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.398A>C
  hgvsp: ENSP00000462630.1:p.Asp133Ala
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.983A>C
  hgvsp: ENSP00000270570.4:p.Asp328Ala
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.914A>C
  hgvsp: ENSP00000407155.2:p.Asp305Ala
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*150A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.592T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4187A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10572A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.426A>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp328Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-19463564-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463564
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463564
    reference: chr 17
allele count: 2
allele frequency: 1.682935038707506e-5
allele num: 118840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.985A>G
  hgvsp: ENSP00000378951.1:p.Met329Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.590T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.400A>G
  hgvsp: ENSP00000462630.1:p.Met134Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.313A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.916A>G
  hgvsp: ENSP00000407155.2:p.Met306Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.985A>G
  hgvsp: ENSP00000415586.1:p.Met329Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10574A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000440435
  ensembl transcript: ENST00000542886
  gene symbol: SLC47A1
  hgvsc: ENST00000542886.1:c.*152A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4189A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.250A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.985A>G
  hgvsp: ENSP00000270570.4:p.Met329Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.428A>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met329Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-19463568-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463568
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463568
    reference: chr 17
allele count: 4
allele frequency: 3.36479415871734e-5
allele num: 118878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.404A>T
  hgvsp: ENSP00000462630.1:p.Glu135Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.989A>T
  hgvsp: ENSP00000270570.4:p.Glu330Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.432A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.989A>T
  hgvsp: ENSP00000415586.1:p.Glu330Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4193A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.254A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.920A>T
  hgvsp: ENSP00000407155.2:p.Glu307Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.989A>T
  hgvsp: ENSP00000378951.1:p.Glu330Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.586T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.317A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10578A>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu330Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-19463569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463569
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463569
    reference: chr 17
allele count: 1
allele frequency: 8.412409987213136e-6
allele num: 118872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.255G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.433G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.921G>A
  hgvsp: ENST00000436810.2:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.318G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.405G>A
  hgvsp: ENST00000571335.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.990G>A
  hgvsp: ENST00000395585.1:c.990G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.990G>A
  hgvsp: ENST00000457293.1:c.990G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.990G>A
  hgvsp: ENST00000270570.4:c.990G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.585C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4194G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10579G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu330Glu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

17-19463570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463570
    reference: chr 17
allele count: 1
allele frequency: 8.412409987213136e-6
allele num: 118872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4195C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.584G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.319C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.991C>T
  hgvsp: ENSP00000378951.1:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.256C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.991C>T
  hgvsp: ENSP00000270570.4:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.406C>T
  hgvsp: ENSP00000462630.1:p.Gln136Ter
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.434C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.922C>T
  hgvsp: ENSP00000407155.2:p.Gln308Ter
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.991C>T
  hgvsp: ENSP00000415586.1:p.Gln331Ter
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10580C>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln331Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

17-19463574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463574
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463574
    reference: chr 17
allele count: 1
allele frequency: 8.40745909771149e-6
allele num: 118942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.323C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4199C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10584C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.926C>T
  hgvsp: ENSP00000407155.2:p.Ala309Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.995C>T
  hgvsp: ENSP00000415586.1:p.Ala332Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.995C>T
  hgvsp: ENSP00000378951.1:p.Ala332Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.260C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.438C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.410C>T
  hgvsp: ENSP00000462630.1:p.Ala137Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.995C>T
  hgvsp: ENSP00000270570.4:p.Ala332Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.580G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36947
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala332Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

17-19463575-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463575
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463575
    reference: chr 17
allele count: 2
allele frequency: 1.681293923803759e-5
allele num: 118956
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.996A>G
  hgvsp: ENST00000270570.4:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.996A>G
  hgvsp: ENST00000395585.1:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.927A>G
  hgvsp: ENST00000436810.2:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10585A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.261A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.411A>G
  hgvsp: ENST00000571335.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.439A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.996A>G
  hgvsp: ENST00000457293.1:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.324A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4200A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.579T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala332Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-19463576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463576
    reference: chr 17
allele count: 19
allele frequency: 1.597282937655525e-4
allele num: 118952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.262C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.412C>T
  hgvsp: ENSP00000462630.1:p.Arg138Trp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.928C>T
  hgvsp: ENSP00000407155.2:p.Arg310Trp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4201C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10586C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.997C>T
  hgvsp: ENSP00000378951.1:p.Arg333Trp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.325C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.440C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.578G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.997C>T
  hgvsp: ENSP00000270570.4:p.Arg333Trp
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.997C>T
  hgvsp: ENSP00000415586.1:p.Arg333Trp
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36807
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg333Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-19463576-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463576
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463575
    reference: chr 17
allele count: 1
allele frequency: 8.406752303450132e-6
allele num: 118952
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.999delG
  hgvsp: ENSP00000270570.4:p.Lys334SerfsTer8
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.327delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.999delG
  hgvsp: ENSP00000415586.1:p.Lys334SerfsTer8
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.577delC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.414delG
  hgvsp: ENSP00000462630.1:p.Lys139SerfsTer8
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.999delG
  hgvsp: ENSP00000378951.1:p.Lys334SerfsTer8
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.442delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.264delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.930delG
  hgvsp: ENSP00000407155.2:p.Lys311SerfsTer8
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10588delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4203delG
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys334SerfsTer8
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: CG
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-19463577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463577
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463577
    reference: chr 17
allele count: 2
allele frequency: 1.681293923803759e-5
allele num: 118956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10587G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.998G>A
  hgvsp: ENSP00000270570.4:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.413G>A
  hgvsp: ENSP00000462630.1:p.Arg138Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.998G>A
  hgvsp: ENSP00000415586.1:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.998G>A
  hgvsp: ENSP00000378951.1:p.Arg333Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.929G>A
  hgvsp: ENSP00000407155.2:p.Arg310Gln
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.441G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.577C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.263G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4202G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.326G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg333Gln
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-19463578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463578
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463578
    reference: chr 17
allele count: 13
allele frequency: 1.092528783931423e-4
allele num: 118990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.930G>A
  hgvsp: ENST00000436810.2:c.930G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.999G>A
  hgvsp: ENST00000457293.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.264G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.999G>A
  hgvsp: ENST00000395585.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.442G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10588G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.414G>A
  hgvsp: ENST00000571335.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.576C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.999G>A
  hgvsp: ENST00000270570.4:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4203G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.327G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Arg333Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

17-19463590-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463590
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463590
    reference: chr 17
allele count: 16
allele frequency: 1.344944689149659e-4
allele num: 118964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1011C>T
  hgvsp: ENST00000457293.1:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.426C>T
  hgvsp: ENST00000571335.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10600C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.942C>T
  hgvsp: ENST00000436810.2:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.454C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.564G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1011C>T
  hgvsp: ENST00000395585.1:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.339C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.276C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4215C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1011C>T
  hgvsp: ENST00000270570.4:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10817
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35535
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr337Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-19463591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463591
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463591
    reference: chr 17
allele count: 707
allele frequency: 5.940178121324147e-3
allele num: 119020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.563C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.340G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.455G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.943G>A
  hgvsp: ENSP00000407155.2:p.Val315Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.427G>A
  hgvsp: ENSP00000462630.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.277G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1012G>A
  hgvsp: ENSP00000378951.1:p.Val338Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1012G>A
  hgvsp: ENSP00000415586.1:p.Val338Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1012G>A
  hgvsp: ENSP00000270570.4:p.Val338Ile
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10601G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4216G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10823
  bin: 2.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 9.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 35230
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
hgvs: p.Val338Ile
num of homozygotes: 23
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-19463600-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463600
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463600
    reference: chr 17
allele count: 1
allele frequency: 8.404067568703253e-6
allele num: 118990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1021C>A
  hgvsp: ENSP00000415586.1:p.Leu341Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.464C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.554G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.952C>A
  hgvsp: ENSP00000407155.2:p.Leu318Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.436C>A
  hgvsp: ENSP00000462630.1:p.Leu146Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1021C>A
  hgvsp: ENSP00000378951.1:p.Leu341Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.349C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10610C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4225C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.286C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1021C>A
  hgvsp: ENSP00000270570.4:p.Leu341Met
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu341Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-19463604-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463604
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463604
    reference: chr 17
allele count: 1
allele frequency: 8.403785064793184e-6
allele num: 118994
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1025T>C
  hgvsp: ENSP00000270570.4:p.Ile342Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.353T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1025T>C
  hgvsp: ENSP00000415586.1:p.Ile342Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10614T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.550A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.440T>C
  hgvsp: ENSP00000462630.1:p.Ile147Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4229T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.468T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.956T>C
  hgvsp: ENSP00000407155.2:p.Ile319Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1025T>C
  hgvsp: ENSP00000378951.1:p.Ile342Thr
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.290T>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile342Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

17-19463614-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463612
    reference: chr 17
allele count: 2
allele frequency: 1.681604923739217e-5
allele num: 118934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+8_473+9delGA
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+8_295+9delGA
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+8_445+9delGA
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+8_1030+9delGA
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4242_1068+4243delGA
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10627_498+10628delGA
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+8_1030+9delGA
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.538_539delTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+8_358+9delGA
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+8_1030+9delGA
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+8_961+9delGA
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1030+8_1030+9delGA
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: TGA
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

17-19463618-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463618
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463618
    reference: chr 17
allele count: 2
allele frequency: 1.682623546633912e-5
allele num: 118862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+9A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.536T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+9A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+9A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+9A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10628A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4243A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+9A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+9A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+9A>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+9A>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-19463622-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463623
    reference: chr 17
allele count: 1
allele frequency: 8.415666604951778e-6
allele num: 118826
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+16dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10635dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+16dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4250dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+16dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+16dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+16dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+16dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+16dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+16dupT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.531dupA
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11772
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/17-19463626-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463626
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463626
    reference: chr 17
allele count: 1
allele frequency: 8.418358756776778e-6
allele num: 118788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+17A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+17A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.528T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+17A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+17A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+17A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10636A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4251A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+17A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+17A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+17A>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

17-19463626-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463626
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463626
    reference: chr 17
allele count: 52
allele frequency: 4.377546553523925e-4
allele num: 118788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+17A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4251A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+17A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+17A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+17A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.528T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10636A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+17A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+17A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+17A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+17A>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31548
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6288
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

17-19463629-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463629
    reference: chr 17
allele count: 1
allele frequency: 8.420910805712745e-6
allele num: 118752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+20C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+20C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+20C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+20C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4254C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+20C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.525G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+20C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+20C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+20C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10639C>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-19463629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463629
    reference: chr 17
allele count: 6
allele frequency: 5.052546483427647e-5
allele num: 118752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+20C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+20C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+20C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+20C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+20C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+20C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4254C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10639C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.525G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+20C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+20C>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31385
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6410
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

17-19463630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463630
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463630
    reference: chr 17
allele count: 1
allele frequency: 8.421478137842754e-6
allele num: 118744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+21G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+21G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+21G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+21G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10640G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4255G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+21G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+21G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.524C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+21G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+21G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

17-19463639-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463639
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463639
    reference: chr 17
allele count: 1
allele frequency: 8.407317729351627e-6
allele num: 118944
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.515C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+30G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+30G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+30G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4264G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10649G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+30G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+30G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+30G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+30G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+30G>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-19463643-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463643
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463643
    reference: chr 17
allele count: 93
allele frequency: 7.813550208361339e-4
allele num: 119024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+34C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+34C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+34C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+34C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10653C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+34C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.511G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+34C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4268C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+34C>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+34C>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31296
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 2
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-19463645-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463645
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 119106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+36G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+36G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+36G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.509C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+36G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+36G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10655G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+36G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+36G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4270G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+36G>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-19463651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463651
    reference: chr 17
allele count: 1
allele frequency: 8.386588168201411e-6
allele num: 119238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+42G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4276G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+42G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.503C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+42G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+42G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+42G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+42G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+42G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+42G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10661G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

17-19463659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463659
    reference: chr 17
allele count: 1
allele frequency: 8.369741709770836e-6
allele num: 119478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.961+50A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.358+50A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1030+50A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.495T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10669A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1030+50A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.295+50A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.445+50A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4284A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.473+50A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1030+50A>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-19463681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463681
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463681
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-50G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-50G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-50G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10691G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-50G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.473C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-50G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-50G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-50G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4306G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-50G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-19463682-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463682
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463681
    reference: chr 17
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-47delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-47delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-47delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-47delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-47delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4309delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.471delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-47delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-47delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10694delG
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-47delG
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9533
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: TG
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

17-19463685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463685
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463685
    reference: chr 17
allele count: 3460
allele frequency: 2.852384956554715e-2
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-46A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-46A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-46A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-46A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-46A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10695A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-46A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.469T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-46A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-46A>G
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4310A>G
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.75e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 5.75e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 2.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 4.25e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 5.25e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 9.75e1
  variant carriers: 539
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 4.75e1
  variant carriers: 322
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 6.25e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 6.75e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 211
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS

17-19463685-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463685
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463682
    reference: chr 17
allele count: 3
allele frequency: 2.473166147301776e-5
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-41_446-39delCTT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-41_359-39delCTT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-41_1031-39delCTT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10700_498+10702delCTT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-41_474-39delCTT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4315_1068+4317delCTT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-41_296-39delCTT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-41_962-39delCTT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.466_468delAGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-41_1031-39delCTT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-41_1031-39delCTT
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: ATCT
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-19463685-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463685
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463685
    reference: chr 17
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4310A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-46A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10695A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.469T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-46A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-46A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-46A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-46A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-46A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-46A>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-46A>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-19463687-C-CCACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463687
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463691
    reference: chr 17
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: CCACT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10697_498+10698insCACT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-44_446-43insCACT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-44_1031-43insCACT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-44_296-43insCACT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-44_1031-43insCACT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4312_1068+4313insCACT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-44_1031-43insCACT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.466_467insAGTG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-44_359-43insCACT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-44_962-43insCACT
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-44_474-43insCACT
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-19463691-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463691
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463691
    reference: chr 17
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10701T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-40T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-40T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4316T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-40T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.463A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-40T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-40T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-40T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-40T>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-40T>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

17-19463693-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463693
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463693
    reference: chr 17
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-38G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-38G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-38G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-38G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10703G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4318G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-38G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-38G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-38G>C
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.461C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-38G>C
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-19463704-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463704
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463704
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-27T>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-27T>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-27T>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-27T>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-27T>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-27T>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4329T>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.450A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-27T>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-27T>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10714T>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/17-19463715-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463715
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463715
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4340C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-16C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-16C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.439G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10725C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-16C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-16C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-16C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-16C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-16C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-16C>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

17-19463716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463716
    reference: chr 17
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.438G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-15C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-15C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-15C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-15C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10726C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4341C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-15C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-15C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-15C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-15C>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-19463717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463717
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463717
    reference: chr 17
allele count: 15
allele frequency: 1.235564488229189e-4
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-14G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-14G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-14G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-14G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4342G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.437C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-14G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-14G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-14G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-14G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10727G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-19463724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463724
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463724
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1031-7C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.446-7C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10734C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.359-7C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.296-7C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.474-7C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4349C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1031-7C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.962-7C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.430G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1031-7C>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1031-7C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

17-19463740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463740
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463740
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10750C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.483C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4365C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1040C>T
  hgvsp: ENSP00000378951.1:p.Ala347Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1040C>T
  hgvsp: ENSP00000415586.1:p.Ala347Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1040C>T
  hgvsp: ENSP00000270570.4:p.Ala347Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.305C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.368C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.971C>T
  hgvsp: ENSP00000407155.2:p.Ala324Val
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.414G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.455C>T
  hgvsp: ENSP00000462630.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala347Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-19463747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463747
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463747
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.462C>T
  hgvsp: ENST00000571335.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.978C>T
  hgvsp: ENST00000436810.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1047C>T
  hgvsp: ENST00000395585.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10757C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4372C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.407G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.312C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.375C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1047C>T
  hgvsp: ENST00000270570.4:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.490C>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1047C>T
  hgvsp: ENST00000457293.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala349Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-19463760-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463760
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463760
    reference: chr 17
allele count: 13
allele frequency: 1.07073435904194e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.503C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.325C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1060C>A
  hgvsp: ENSP00000270570.4:p.Leu354Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.991C>A
  hgvsp: ENSP00000407155.2:p.Leu331Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1060C>A
  hgvsp: ENSP00000415586.1:p.Leu354Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.394G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.388C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1060C>A
  hgvsp: ENSP00000378951.1:p.Leu354Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10770C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4385C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.475C>A
  hgvsp: ENSP00000462630.1:p.Leu159Met
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Leu354Met
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-19463762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463762
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463762
    reference: chr 17
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1062G>A
  hgvsp: ENST00000457293.1:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.477G>A
  hgvsp: ENST00000571335.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.993G>A
  hgvsp: ENST00000436810.2:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1062G>A
  hgvsp: ENST00000395585.1:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.327G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1062G>A
  hgvsp: ENST00000270570.4:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.392C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.505G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4387G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.390G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10772G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu354Leu
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

17-19463767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463767
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463767
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1067G>A
  hgvsp: ENSP00000415586.1:p.Ser356Asn
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.482G>A
  hgvsp: ENSP00000462630.1:p.Ser161Asn
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4392G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.998G>A
  hgvsp: ENSP00000407155.2:p.Ser333Asn
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.332G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.510G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1067G>A
  hgvsp: ENSP00000270570.4:p.Ser356Asn
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.387C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.395G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10777G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1067G>A
  hgvsp: ENSP00000378951.1:p.Ser356Asn
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser356Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-19463778-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463778
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.343C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1078C>A
  hgvsp: ENSP00000270570.4:p.His360Asn
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.493C>A
  hgvsp: ENSP00000462630.1:p.His165Asn
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1078C>A
  hgvsp: ENSP00000415586.1:p.His360Asn
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.376G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.521C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10788C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1078C>A
  hgvsp: ENSP00000378951.1:p.His360Asn
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4403C>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.1009C>A
  hgvsp: ENSP00000407155.2:p.His337Asn
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.406C>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His360Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-19463781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463781
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463781
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.524G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4406G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1081G>A
  hgvsp: ENSP00000378951.1:p.Val361Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.1012G>A
  hgvsp: ENSP00000407155.2:p.Val338Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.373C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.409G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.496G>A
  hgvsp: ENSP00000462630.1:p.Val166Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1081G>A
  hgvsp: ENSP00000270570.4:p.Val361Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1081G>A
  hgvsp: ENSP00000415586.1:p.Val361Met
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10791G>A
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.346G>A
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val361Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-19463786-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19463786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19463786
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000462630
  ensembl transcript: ENST00000571335
  gene symbol: SLC47A1
  hgvsc: ENST00000571335.1:c.501G>T
  hgvsp: ENST00000571335.1:c.501G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000262769
  ensembl transcript: ENST00000574267
  gene symbol: RP11-1113L8.1
  hgvsc: ENST00000574267.1:n.368C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000573009
  gene symbol: SLC47A1
  hgvsc: ENST00000573009.1:n.414G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000460164
  ensembl transcript: ENST00000575023
  gene symbol: SLC47A1
  hgvsc: ENST00000575023.1:c.498+10796G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000407155
  ensembl transcript: ENST00000436810
  gene symbol: SLC47A1
  hgvsc: ENST00000436810.2:c.1017G>T
  hgvsp: ENST00000436810.2:c.1017G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000270570
  ensembl transcript: ENST00000270570
  gene symbol: SLC47A1
  hgvsc: ENST00000270570.4:c.1086G>T
  hgvsp: ENST00000270570.4:c.1086G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000378951
  ensembl transcript: ENST00000395585
  gene symbol: SLC47A1
  hgvsc: ENST00000395585.1:c.1086G>T
  hgvsp: ENST00000395585.1:c.1086G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142494
  ensembl protein: ENSP00000415586
  ensembl transcript: ENST00000457293
  gene symbol: SLC47A1
  hgvsc: ENST00000457293.1:c.1086G>T
  hgvsp: ENST00000457293.1:c.1086G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000495425
  gene symbol: SLC47A1
  hgvsc: ENST00000495425.2:n.529G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000497548
  gene symbol: SLC47A1
  hgvsc: ENST00000497548.1:n.1068+4411G>T
  variant of: http://identifiers.org/hgnc/25588
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142494
  ensembl transcript: ENST00000575377
  gene symbol: SLC47A1
  hgvsc: ENST00000575377.1:n.351G>T
  variant of: http://identifiers.org/hgnc/25588
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly362Gly
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 307
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12928
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4664
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1832
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54334
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.567889620570712e-4
allele num: 6378
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.605e0

VQSLOD
type: SiteQuality
SIO_000300: -2.969e0

DP
type: SiteQuality
SIO_000300: 1.364158e6

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 3.24e1

GenotypeDepth
all individuals: 420
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10895
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4677
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4026
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.527650473571647e-4
allele num: 13092
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: -9.500999999999999e-1

FS
type: SiteQuality
SIO_000300: 9.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.164e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.412523e6

GenotypeDepth
all individuals: 354
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9913
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57484
num of homozygotes: 0

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

Other
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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: 5242
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.083423618634886e-4
allele num: 9230
num of homozygotes: 0

QD
type: SiteQuality
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DP
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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SIO_000300: 1.01e0

ClippingRankSum
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SIO_000300: 1.29e0

MQRankSum
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SIO_000300: 8.24e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.076194575979337e-4
allele num: 9292
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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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

FS
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -2.1e-3

ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9594
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.648858989579211e-5
allele num: 60648
num of homozygotes: 0

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

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

DP
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SIO_000300: 1.503562e6

ClippingRankSum
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FS
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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SIO_000300: 1.67e-1

ReadPosRankSum
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SIO_000300: -1.27e-1

GenotypeDepth
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14432
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61720
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -3.72e-1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele num: 63130
num of homozygotes: 0

Other
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num of homozygotes: 0

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

Latino
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allele count: 0
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DP
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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South Asian
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.304573968414085e-5
allele num: 63446
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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: 64064
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Other
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African
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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QD
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Latino
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East Asian
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Other
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MQRankSum
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Non-Finnish)
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Other
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African
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Latino
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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Other
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East Asian
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Latino
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South Asian
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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QD
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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MQ
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DP
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MQRankSum
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QD
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InbreedingCoeff
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FS
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65226
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.369426751592356e-5
allele num: 15700
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

Other
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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: 8546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

DP
type: SiteQuality
SIO_000300: 1.61232e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.122e0

VQSLOD
type: SiteQuality
SIO_000300: -3.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 461
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533130960046607e-5
allele num: 65226
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.61232e6

MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 4.122e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
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SIO_000300: 1.88e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15730
num of homozygotes: 0

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

Other
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

Latino
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allele count: 1
allele frequency: 8.874689385871494e-5
allele num: 11268
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65308
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.181e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
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SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.444e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.614449e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5813
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65508
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.620795e6

QD
type: SiteQuality
SIO_000300: 1.505e1

FS
type: SiteQuality
SIO_000300: 7.994e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.547e0

GenotypeDepth
all individuals: 250
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4783
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variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.957330201605011e-4
allele num: 10218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65528
num of homozygotes: 0

South Asian
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allele count: 0
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East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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DP
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SIO_000300: 1.62104e6

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

BaseQRankSum
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SIO_000300: -7.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65536
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.815232722143864e-5
allele num: 11344
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.934272300469484e-4
allele num: 10224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.235e1

FS
type: SiteQuality
SIO_000300: 8.090999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65528
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Latino
type: Population
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Other
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.234e0

DP
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 454
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65524
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African
type: Population
allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15910
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

QD
type: SiteQuality
SIO_000300: 1.289e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 1.619983e6

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

FS
type: SiteQuality
SIO_000300: 8.972e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.336e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65542
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.277463904582549e-5
allele num: 15930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.331e1

MQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

FS
type: SiteQuality
SIO_000300: 1.719e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.618353e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.195e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

GenotypeQuality
all individuals: 536
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 5793
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051106025934401e-5
allele num: 65550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

QD
type: SiteQuality
SIO_000300: 1.261e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

FS
type: SiteQuality
SIO_000300: 4.493e0

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.618539e6

GenotypeQuality
all individuals: 4806
bin: 9.75e1
variant carriers: 19

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 470
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.067919692439129e-4
allele num: 65548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.703599153140438e-4
allele num: 11336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.273525721455458e-5
allele num: 15940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.618614e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 2.465e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

GenotypeQuality
all individuals: 626
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 330
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GenotypeQuality
all individuals: 4806
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525599560627327e-5
allele num: 65548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.465e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

DP
type: SiteQuality
SIO_000300: 1.618614e6

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1791
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.272738677706687e-5
allele num: 15942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525692664469669e-5
allele num: 65544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 5.388e0

VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.024e1

MQ
type: SiteQuality
SIO_000300: 5.79e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.821453775582216e-5
allele num: 11336
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.677698807308666e-4
allele num: 65566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

DP
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.778e0

VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 475
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.582531390340024e-5
allele num: 65466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.516565562295847e-3
allele num: 8572
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: -6.2e-2

FS
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MQ
type: SiteQuality
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VQSLOD
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SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 675

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.247038284075321e-4
allele num: 16038
num of homozygotes: 0

African
type: Population
allele count: 664
allele frequency: 6.467952464445743e-2
allele num: 10266
num of homozygotes: 23

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.680004887286945e-4
allele num: 65476
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.468265162200282e-3
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.43e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 5.21e-1

DP
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SIO_000300: 1.640929e6

MQRankSum
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SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.488e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.222775357809582e-5
allele num: 16070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

DP
type: SiteQuality
SIO_000300: 1.631871e6

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.275e0

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 907
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527697149317119e-5
allele num: 65458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.628e1

VQSLOD
type: SiteQuality
SIO_000300: -2.487e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

DP
type: SiteQuality
SIO_000300: 1.62807e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.101e0

MQRankSum
type: SiteQuality
SIO_000300: -1.931e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

GenotypeQuality
all individuals: 1186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.057823441274501e-5
allele num: 65406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.628502e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.044e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.711e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

QD
type: SiteQuality
SIO_000300: 1.553e1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2342
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1366
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1408
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1409
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5997
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.235483073881888e-4
allele num: 16188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.193e1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.630444e6

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

FS
type: SiteQuality
SIO_000300: 6.937e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.46e-1

DP
type: SiteQuality
SIO_000300: 1.636955e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.07e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
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SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 2.267e1

GenotypeQuality
all individuals: 1362
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1366
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variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65300
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.101e0

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

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

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: 51

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.828483920367535e-4
allele num: 65300
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.544163063619518e-4
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.233045622688039e-3
allele num: 16220
num of homozygotes: 1

Latino
type: Population
allele count: 5
allele frequency: 4.421648390519986e-4
allele num: 11308
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.640489e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 1.101e0

QD
type: SiteQuality
SIO_000300: 1.553e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

GenotypeQuality
all individuals: 191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.854258898530193e-5
allele num: 11294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65260
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

DP
type: SiteQuality
SIO_000300: 1.646744e6

QD
type: SiteQuality
SIO_000300: 1.5e1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 2.423e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 9.75e1
variant carriers: 6

South Asian
type: Population
allele count: 3
allele frequency: 1.847290640394089e-4
allele num: 16240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
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: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532332209623046e-5
allele num: 65260
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.770851779706039e-4
allele num: 11294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.5e1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 2.423e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

DP
type: SiteQuality
SIO_000300: 1.646744e6

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1069
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.156119182467373e-5
allele num: 16244
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65272
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 8.59e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 1.648784e6

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1048
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 7.75e1
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GenotypeQuality
all individuals: 1657
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530502923260583e-5
allele num: 65338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.662729e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.462e0

FS
type: SiteQuality
SIO_000300: 2.4039e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.508e1

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.489e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.007e0

GenotypeQuality
all individuals: 32772
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 90

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 340
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variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

South Asian
type: Population
allele count: 93
allele frequency: 5.690857912128259e-3
allele num: 16342
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

QD
type: SiteQuality
SIO_000300: 1.51e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 1.796e0

DP
type: SiteQuality
SIO_000300: 1.671945e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65420
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.418e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
SIO_000300: 6.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1406
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526624328285296e-5
allele num: 65504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 1.255e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.685336e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33778
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GenotypeQuality
all individuals: 301
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65626
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.03e0

MQRankSum
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SIO_000300: -1.497e0

ReadPosRankSum
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SIO_000300: 2.07e0

FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.79e-1

DP
type: SiteQuality
SIO_000300: 1.700791e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

DP
type: SiteQuality
SIO_000300: 3.022284e6

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 6610
num of homozygotes: 0

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: 66696
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.721e0

DP
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SIO_000300: 3.022364e6

QD
type: SiteQuality
SIO_000300: 4.95e0

ClippingRankSum
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SIO_000300: 5.49e-1

BaseQRankSum
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SIO_000300: 9.15e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 6.478e0

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 1954
allele frequency: 1.880292532717475e-1
allele num: 10392
num of homozygotes: 167

South Asian
type: Population
allele count: 1202
allele frequency: 7.279554263565892e-2
allele num: 16512
num of homozygotes: 40

Other
type: Population
allele count: 13
allele frequency: 1.434878587196468e-2
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 86
allele frequency: 1.289509986205242e-3
allele num: 66692
num of homozygotes: 0

Latino
type: Population
allele count: 205
allele frequency: 1.771211335752549e-2
allele num: 11574
num of homozygotes: 4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.093e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

QD
type: SiteQuality
SIO_000300: 1.633e1

DP
type: SiteQuality
SIO_000300: 3.031768e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

DP
type: SiteQuality
SIO_000300: 3.031768e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.093e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.633e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.665e1

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

Latino
type: Population
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allele frequency: 0.0e0
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African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499160470136723e-5
allele num: 66704
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European (Finnish)
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East Asian
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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Other
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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QD
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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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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 (Non-Finnish)
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allele num: 66726
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66736
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East Asian
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South Asian
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Other
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African
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European (Finnish)
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MQRankSum
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SIO_000300: 6.3e-2

InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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allele num: 6614
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African
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Other
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East Asian
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European (Non-Finnish)
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allele count: 12
allele frequency: 1.798183834327329e-4
allele num: 66734
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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Other
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Latino
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European (Non-Finnish)
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African
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ClippingRankSum
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MQRankSum
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FS
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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African
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Latino
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Other
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European (Finnish)
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ClippingRankSum
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FS
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.017e0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.332e0

GenotypeQuality
all individuals: 4501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2464
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GenotypeQuality
all individuals: 4151
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798022175606832e-4
allele num: 66740
num of homozygotes: 0

Other
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allele count: 1
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.589e0

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 2.957342e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

GenotypeQuality
all individuals: 0
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 2300
bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

South Asian
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allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 1

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

DP
type: SiteQuality
SIO_000300: 2.956376e6

QD
type: SiteQuality
SIO_000300: 1.829e1

FS
type: SiteQuality
SIO_000300: 3.413e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.852e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.023e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.247e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2466
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
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allele num: 66740
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.526e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.956387e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.956292e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 6.13e0

QD
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SIO_000300: 8.44e0

VQSLOD
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SIO_000300: -1.011e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.306e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

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