17-80193852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193852
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193852
    reference: chr 17
allele count: 9
allele frequency: 1.383423512051156e-4
allele num: 65056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.40-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.46-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.83-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.53-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-33C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-26-7C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-26-7C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-80193861-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193861
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193861
    reference: chr 17
allele count: 1
allele frequency: 1.415548383443746e-5
allele num: 70644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.42G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.85G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.48G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.55G>C
  variant of: http://identifiers.org/hgnc/10924
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-24G>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

17-80193865-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193865
    reference: chr 17
allele count: 3
allele frequency: 4.081743720917576e-5
allele num: 73498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.89C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.59C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.52C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-20C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.46C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-80193866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193866
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193866
    reference: chr 17
allele count: 1
allele frequency: 1.314682372738746e-5
allele num: 76064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.90G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.53G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.60G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.47G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-80193867-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193866
    reference: chr 17
allele count: 1
allele frequency: 1.288859101922978e-5
allele num: 77588
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.93delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.56delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.63delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-16delA
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.50delA
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: GA
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-80193873-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193873
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193872
    reference: chr 17
allele count: 1
allele frequency: 1.17857816330379e-5
allele num: 84848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-9delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.70delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.63delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.100delC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.57delC
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: AC
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum

17-80193874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193874
    reference: chr 17
allele count: 3
allele frequency: 3.501645773513551e-5
allele num: 85674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.68C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.55C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.61C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.98C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/17-80193875-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193875
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193875
    reference: chr 17
allele count: 1
allele frequency: 1.149901108504669e-5
allele num: 86964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.62C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.99C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.69C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.56C>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-10C>A
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

17-80193875-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193875
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193875
    reference: chr 17
allele count: 1
allele frequency: 1.149901108504669e-5
allele num: 86964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.69C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.99C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.62C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.56C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-10C>G
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-80193882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193882
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193882
    reference: chr 17
allele count: 1374
allele frequency: 1.456743002544529e-2
allele num: 94320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.76G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.69G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.106G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.63G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 7.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 2.75e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 3.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 1.75e1
  variant carriers: 162
genotype quality: GenotypeQuality
num of homozygotes: 92
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

17-80193886-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193886
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193886
    reference: chr 17
allele count: 1
allele frequency: 1.007394273970947e-5
allele num: 99266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.2T>C
  hgvsp: ENSP00000463912.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.2T>C
  hgvsp: ENSP00000463508.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.73T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.2T>C
  hgvsp: ENSP00000464625.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.2T>C
  hgvsp: ENSP00000376150.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.2T>C
  hgvsp: ENSP00000464381.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.2T>C
  hgvsp: ENSP00000462405.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.2T>C
  hgvsp: ENSP00000462854.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.2T>C
  hgvsp: ENSP00000464112.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.2T>C
  hgvsp: ENSP00000464326.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.2T>C
  hgvsp: ENSP00000463978.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.2T>C
  hgvsp: ENSP00000463063.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.67T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.2T>C
  hgvsp: ENSP00000463880.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.80T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.2T>C
  hgvsp: ENSP00000376152.1:p.Met1?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.110T>C
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-80193896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193896
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193896
    reference: chr 17
allele count: 4
allele frequency: 3.769815090569808e-5
allele num: 106106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.12C>T
  hgvsp: ENST00000578522.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.12C>T
  hgvsp: ENST00000580189.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.12C>T
  hgvsp: ENST00000392341.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.120C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.12C>T
  hgvsp: ENST00000584689.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.83C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.12C>T
  hgvsp: ENST00000577650.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.12C>T
  hgvsp: ENST00000392339.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.12C>T
  hgvsp: ENST00000580098.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.12C>T
  hgvsp: ENST00000582743.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.12C>T
  hgvsp: ENST00000582946.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.12C>T
  hgvsp: ENST00000578684.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.12C>T
  hgvsp: ENST00000583237.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.90C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.12C>T
  hgvsp: ENST00000582715.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.12C>T
  hgvsp: ENST00000581287.1:c.12C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.77C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala4Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-80193897-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193897
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193897
    reference: chr 17
allele count: 3
allele frequency: 2.789089083505327e-5
allele num: 107562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.121G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.91G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.13G>A
  hgvsp: ENSP00000464326.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.13G>A
  hgvsp: ENSP00000462405.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.13G>A
  hgvsp: ENSP00000376152.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.13G>A
  hgvsp: ENSP00000376150.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.13G>A
  hgvsp: ENSP00000464112.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.78G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.13G>A
  hgvsp: ENSP00000464625.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.13G>A
  hgvsp: ENSP00000463912.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.13G>A
  hgvsp: ENSP00000463978.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.13G>A
  hgvsp: ENSP00000463508.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.13G>A
  hgvsp: ENSP00000464381.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.13G>A
  hgvsp: ENSP00000463063.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.84G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.13G>A
  hgvsp: ENSP00000463880.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.13G>A
  hgvsp: ENSP00000462854.1:p.Val5Met
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val5Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

17-80193904-A-ACGAGGGCCCCACAGGCGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193904
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193922
    reference: chr 17
allele count: 1
allele frequency: 9.044535291776708e-6
allele num: 110564
alternate allele: ACGAGGGCCCCACAGGCGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsp: ENSP00000376150.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsp: ENSP00000376152.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsp: ENSP00000464381.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsp: ENSP00000464326.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsp: ENSP00000463978.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsp: ENSP00000463912.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsp: ENSP00000462405.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsp: ENSP00000462854.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsp: ENSP00000463508.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsp: ENSP00000464112.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsp: ENSP00000463880.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsp: ENSP00000463063.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsp: ENSP00000464625.1:p.Glu8_Val13dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 38080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu8_Val13dup
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-80193905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193905
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193905
    reference: chr 17
allele count: 4
allele frequency: 3.605487552054227e-5
allele num: 110942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.21C>T
  hgvsp: ENST00000578522.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.21C>T
  hgvsp: ENST00000577650.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.21C>T
  hgvsp: ENST00000582743.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.21C>T
  hgvsp: ENST00000581287.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.21C>T
  hgvsp: ENST00000580098.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.21C>T
  hgvsp: ENST00000580189.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.21C>T
  hgvsp: ENST00000392339.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.21C>T
  hgvsp: ENST00000583237.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.21C>T
  hgvsp: ENST00000392341.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.21C>T
  hgvsp: ENST00000582946.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.21C>T
  hgvsp: ENST00000584689.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.99C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.86C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.92C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.129C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.21C>T
  hgvsp: ENST00000582715.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.21C>T
  hgvsp: ENST00000578684.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp7Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-80193912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193912
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193912
    reference: chr 17
allele count: 1
allele frequency: 8.814921899791968e-6
allele num: 113444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.28C>T
  hgvsp: ENSP00000462854.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.28C>T
  hgvsp: ENSP00000464326.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.136C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.28C>T
  hgvsp: ENSP00000376150.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.106C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.28C>T
  hgvsp: ENSP00000463880.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.28C>T
  hgvsp: ENSP00000463912.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.28C>T
  hgvsp: ENSP00000464381.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.28C>T
  hgvsp: ENSP00000464112.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.93C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.28C>T
  hgvsp: ENSP00000464625.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.28C>T
  hgvsp: ENSP00000462405.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.28C>T
  hgvsp: ENSP00000463508.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.28C>T
  hgvsp: ENSP00000463063.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.28C>T
  hgvsp: ENSP00000463978.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.99C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.28C>T
  hgvsp: ENSP00000376152.1:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro10Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-80193913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193913
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193913
    reference: chr 17
allele count: 5
allele frequency: 4.399162399479139e-5
allele num: 113658
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.29C>T
  hgvsp: ENSP00000463978.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.29C>T
  hgvsp: ENSP00000463880.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.29C>T
  hgvsp: ENSP00000462854.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.107C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.29C>T
  hgvsp: ENSP00000463912.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.29C>T
  hgvsp: ENSP00000464625.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.137C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.29C>T
  hgvsp: ENSP00000464326.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.100C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.29C>T
  hgvsp: ENSP00000462405.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.29C>T
  hgvsp: ENSP00000464112.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.94C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.29C>T
  hgvsp: ENSP00000376150.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.29C>T
  hgvsp: ENSP00000463508.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.29C>T
  hgvsp: ENSP00000464381.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.29C>T
  hgvsp: ENSP00000376152.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.29C>T
  hgvsp: ENSP00000463063.1:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro10Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-80193920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193920
    reference: chr 17
allele count: 12
allele frequency: 1.043206120142571e-4
allele num: 115030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.36C>T
  hgvsp: ENST00000582946.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.36C>T
  hgvsp: ENST00000578684.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.101C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.36C>T
  hgvsp: ENST00000580189.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.36C>T
  hgvsp: ENST00000581287.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.36C>T
  hgvsp: ENST00000577650.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.36C>T
  hgvsp: ENST00000582715.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.36C>T
  hgvsp: ENST00000392341.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.36C>T
  hgvsp: ENST00000584689.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.36C>T
  hgvsp: ENST00000578522.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.36C>T
  hgvsp: ENST00000582743.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.36C>T
  hgvsp: ENST00000580098.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.36C>T
  hgvsp: ENST00000392339.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.114C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.107C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.36C>T
  hgvsp: ENST00000583237.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.144C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly12Gly
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-80193920-CGTCAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193920
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193914
    reference: chr 17
allele count: 1
allele frequency: 8.693384334521429e-6
allele num: 115030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.38_43delTCAAGG
  hgvsp: ENSP00000464112.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.38_42+1delTCAAGG
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.38_43delTCAAGG
  hgvsp: ENSP00000463880.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.38_43delTCAAGG
  hgvsp: ENSP00000463912.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.38_43delTCAAGG
  hgvsp: ENSP00000376152.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.38_43delTCAAGG
  hgvsp: ENSP00000464326.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.38_43delTCAAGG
  hgvsp: ENSP00000462405.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.38_43delTCAAGG
  hgvsp: ENSP00000463508.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.103_108delTCAAGG
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.38_43delTCAAGG
  hgvsp: ENSP00000464625.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.109_114delTCAAGG
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.38_43delTCAAGG
  hgvsp: ENSP00000376150.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.38_43delTCAAGG
  hgvsp: ENSP00000464381.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.38_43delTCAAGG
  hgvsp: ENSP00000463978.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.146_151delTCAAGG
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.116_121delTCAAGG
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.38_43delTCAAGG
  hgvsp: ENSP00000462854.1:p.Val13_Lys14del
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val13_Lys14del
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: CGTCAAG
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

17-80193921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193921
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193921
    reference: chr 17
allele count: 3
allele frequency: 2.601050824533111e-5
allele num: 115338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.37G>A
  hgvsp: ENSP00000376152.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.37G>A
  hgvsp: ENSP00000464625.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.37G>A
  hgvsp: ENSP00000463508.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.37G>A
  hgvsp: ENSP00000464381.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.37G>A
  hgvsp: ENSP00000464326.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.37G>A
  hgvsp: ENSP00000463912.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.102G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.145G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.37G>A
  hgvsp: ENSP00000462405.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.37G>A
  hgvsp: ENSP00000463978.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.37G>A
  hgvsp: ENSP00000376150.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.115G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.108G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.37G>A
  hgvsp: ENSP00000463880.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.37G>A
  hgvsp: ENSP00000464112.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.37G>A
  hgvsp: ENSP00000463063.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.37G>A
  hgvsp: ENSP00000462854.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val13Ile
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-80193926-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193926
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193926
    reference: chr 17
allele count: 1
allele frequency: 8.616232982939859e-6
allele num: 116060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.42G>C
  hgvsp: ENSP00000462405.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.150G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.42G>C
  hgvsp: ENSP00000464326.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.113G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.42G>C
  hgvsp: ENSP00000463912.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.42G>C
  hgvsp: ENSP00000464381.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.42G>C
  hgvsp: ENSP00000463978.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.42G>C
  hgvsp: ENSP00000463508.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.42G>C
  hgvsp: ENSP00000376150.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42G>C
  hgvsp: ENSP00000463063.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.42G>C
  hgvsp: ENSP00000376152.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.42G>C
  hgvsp: ENSP00000462854.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.42G>C
  hgvsp: ENSP00000464112.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.42G>C
  hgvsp: ENSP00000464625.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.120G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.107G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.42G>C
  hgvsp: ENSP00000463880.1:p.Lys14Asn
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys14Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

17-80193927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193927
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193927
    reference: chr 17
allele count: 1
allele frequency: 8.605555746790128e-6
allele num: 116204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.114G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.43G>A
  hgvsp: ENSP00000376152.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.43G>A
  hgvsp: ENSP00000464112.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.43G>A
  hgvsp: ENSP00000464625.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.43G>A
  hgvsp: ENSP00000464381.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.121G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.43G>A
  hgvsp: ENSP00000463880.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.151G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.43G>A
  hgvsp: ENSP00000464326.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+1G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.43G>A
  hgvsp: ENSP00000463912.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.43G>A
  hgvsp: ENSP00000463978.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.43G>A
  hgvsp: ENSP00000462405.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.108G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.43G>A
  hgvsp: ENSP00000462854.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.43G>A
  hgvsp: ENSP00000376150.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.43G>A
  hgvsp: ENSP00000463508.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/10924
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.42+1G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-80193928-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193928
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193928
    reference: chr 17
allele count: 1
allele frequency: 8.587671538738987e-6
allele num: 116446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.44C>G
  hgvsp: ENSP00000463880.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.44C>G
  hgvsp: ENSP00000463508.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.115C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.122C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.44C>G
  hgvsp: ENSP00000463912.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.44C>G
  hgvsp: ENSP00000376152.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.44C>G
  hgvsp: ENSP00000464112.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.44C>G
  hgvsp: ENSP00000462854.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.44C>G
  hgvsp: ENSP00000376150.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.109C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+2C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.44C>G
  hgvsp: ENSP00000463978.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.44C>G
  hgvsp: ENSP00000462405.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.44C>G
  hgvsp: ENSP00000464326.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.44C>G
  hgvsp: ENSP00000464625.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.44C>G
  hgvsp: ENSP00000464381.1:p.Ala15Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.152C>G
  variant of: http://identifiers.org/hgnc/10924
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.42+2C>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

17-80193928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193928
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193928
    reference: chr 17
allele count: 612
allele frequency: 5.25565498170826e-3
allele num: 116446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+2C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.44C>T
  hgvsp: ENSP00000376150.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.44C>T
  hgvsp: ENSP00000463508.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.44C>T
  hgvsp: ENSP00000463912.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.44C>T
  hgvsp: ENSP00000463978.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.44C>T
  hgvsp: ENSP00000464381.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.44C>T
  hgvsp: ENSP00000462405.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.44C>T
  hgvsp: ENSP00000462854.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.109C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.44C>T
  hgvsp: ENSP00000464112.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.44C>T
  hgvsp: ENSP00000463880.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.44C>T
  hgvsp: ENSP00000464326.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.152C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.44C>T
  hgvsp: ENSP00000464625.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.122C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.44C>T
  hgvsp: ENSP00000376152.1:p.Ala15Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.115C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13259
  bin: 2.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
hgvs: c.42+2C>T
num of homozygotes: 12
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

17-80193935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193935
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193935
    reference: chr 17
allele count: 10
allele frequency: 8.484930762964974e-5
allele num: 117856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.51C>T
  hgvsp: ENST00000584689.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.51C>T
  hgvsp: ENST00000580189.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.159C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.122C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.129C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.51C>T
  hgvsp: ENST00000582743.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.51C>T
  hgvsp: ENST00000580098.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.51C>T
  hgvsp: ENST00000392341.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.51C>T
  hgvsp: ENST00000583237.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.51C>T
  hgvsp: ENST00000582946.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.51C>T
  hgvsp: ENST00000581287.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.116C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.51C>T
  hgvsp: ENST00000578522.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.51C>T
  hgvsp: ENST00000578684.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.51C>T
  hgvsp: ENST00000582715.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.51C>T
  hgvsp: ENST00000392339.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+9C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp17Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

17-80193936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193936
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193936
    reference: chr 17
allele count: 1
allele frequency: 8.491270973439305e-6
allele num: 117768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.52G>A
  hgvsp: ENSP00000463912.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.52G>A
  hgvsp: ENSP00000464381.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+10G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.52G>A
  hgvsp: ENSP00000376150.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.52G>A
  hgvsp: ENSP00000463508.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.52G>A
  hgvsp: ENSP00000463978.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.52G>A
  hgvsp: ENSP00000464326.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.52G>A
  hgvsp: ENSP00000464625.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.123G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.117G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.52G>A
  hgvsp: ENSP00000464112.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.160G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.52G>A
  hgvsp: ENSP00000463880.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.52G>A
  hgvsp: ENSP00000462854.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.130G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.52G>A
  hgvsp: ENSP00000376152.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.52G>A
  hgvsp: ENSP00000462405.1:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly18Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-80193938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193938
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193938
    reference: chr 17
allele count: 3
allele frequency: 2.540134119081488e-5
allele num: 118104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.54C>T
  hgvsp: ENST00000580098.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.54C>T
  hgvsp: ENST00000392339.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.119C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.54C>T
  hgvsp: ENST00000581287.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.54C>T
  hgvsp: ENST00000582946.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.54C>T
  hgvsp: ENST00000584689.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.132C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+12C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.54C>T
  hgvsp: ENST00000582743.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.54C>T
  hgvsp: ENST00000583237.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.125C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.54C>T
  hgvsp: ENST00000578522.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.54C>T
  hgvsp: ENST00000580189.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.54C>T
  hgvsp: ENST00000582715.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.162C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.54C>T
  hgvsp: ENST00000392341.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.54C>T
  hgvsp: ENST00000578684.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly18Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-80193939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193939
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193939
    reference: chr 17
allele count: 2
allele frequency: 1.691961490956466e-5
allele num: 118206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.126G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.55G>A
  hgvsp: ENSP00000464381.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.55G>A
  hgvsp: ENSP00000463880.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.55G>A
  hgvsp: ENSP00000463978.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.55G>A
  hgvsp: ENSP00000464326.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.55G>A
  hgvsp: ENSP00000463508.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.55G>A
  hgvsp: ENSP00000462405.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.55G>A
  hgvsp: ENSP00000376150.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.55G>A
  hgvsp: ENSP00000464112.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.133G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.120G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.163G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.55G>A
  hgvsp: ENSP00000464625.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.55G>A
  hgvsp: ENSP00000463912.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+13G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.55G>A
  hgvsp: ENSP00000376152.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.55G>A
  hgvsp: ENSP00000462854.1:p.Gly19Ser
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly19Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

17-80193939-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193939
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193939
    reference: chr 17
allele count: 2
allele frequency: 1.691961490956466e-5
allele num: 118206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.55G>T
  hgvsp: ENSP00000464625.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.55G>T
  hgvsp: ENSP00000463508.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.55G>T
  hgvsp: ENSP00000463978.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.55G>T
  hgvsp: ENSP00000464381.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+13G>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.55G>T
  hgvsp: ENSP00000464326.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.133G>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.126G>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.55G>T
  hgvsp: ENSP00000463912.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.55G>T
  hgvsp: ENSP00000376152.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.163G>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.55G>T
  hgvsp: ENSP00000463880.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.55G>T
  hgvsp: ENSP00000462405.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.120G>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.55G>T
  hgvsp: ENSP00000376150.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.55G>T
  hgvsp: ENSP00000464112.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.55G>T
  hgvsp: ENSP00000462854.1:p.Gly19Cys
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13842
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly19Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

17-80193946-G-GCTGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193946
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193952
    reference: chr 17
allele count: 1
allele frequency: 8.398421096833796e-6
allele num: 119070
alternate allele: GCTGGGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000464625.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.135_140dupTGGGCC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000462854.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.142_147dupTGGGCC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000464326.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000464381.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000376150.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000376152.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000463508.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000463880.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+22_42+27dupTGGGCC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000463912.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.129_134dupTGGGCC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000462405.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000463978.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.172_177dupTGGGCC
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.64_69dupTGGGCC
  hgvsp: ENSP00000464112.1:p.Trp22_Ala23dup
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp22_Ala23dup
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

17-80193950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193950
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193950
    reference: chr 17
allele count: 2
allele frequency: 1.67549091883922e-5
allele num: 119368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.66G>A
  hgvsp: ENSP00000464381.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.66G>A
  hgvsp: ENSP00000462854.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.66G>A
  hgvsp: ENSP00000463912.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.66G>A
  hgvsp: ENSP00000376150.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.66G>A
  hgvsp: ENSP00000463880.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.66G>A
  hgvsp: ENSP00000464625.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.144G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+24G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.66G>A
  hgvsp: ENSP00000463978.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.66G>A
  hgvsp: ENSP00000463508.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.66G>A
  hgvsp: ENSP00000376152.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.137G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.66G>A
  hgvsp: ENSP00000462405.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.66G>A
  hgvsp: ENSP00000464112.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.174G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.131G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.66G>A
  hgvsp: ENSP00000464326.1:p.Trp22Ter
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp22Ter
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-80193952-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193952
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193952
    reference: chr 17
allele count: 1
allele frequency: 8.377594960038872e-6
allele num: 119366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.68C>G
  hgvsp: ENSP00000463508.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.68C>G
  hgvsp: ENSP00000463978.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.176C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.68C>G
  hgvsp: ENSP00000463880.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.68C>G
  hgvsp: ENSP00000464625.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.68C>G
  hgvsp: ENSP00000464326.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.133C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.68C>G
  hgvsp: ENSP00000462405.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.68C>G
  hgvsp: ENSP00000462854.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.146C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.68C>G
  hgvsp: ENSP00000464381.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.68C>G
  hgvsp: ENSP00000464112.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.139C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.68C>G
  hgvsp: ENSP00000376150.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.68C>G
  hgvsp: ENSP00000376152.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.68C>G
  hgvsp: ENSP00000463912.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+26C>G
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala23Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

17-80193953-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193953
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193953
    reference: chr 17
allele count: 308
allele frequency: 2.577535273737594e-3
allele num: 119494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.69C>G
  hgvsp: ENST00000580189.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.69C>G
  hgvsp: ENST00000392341.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.69C>G
  hgvsp: ENST00000582715.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+27C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.69C>G
  hgvsp: ENST00000578522.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.69C>G
  hgvsp: ENST00000584689.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.69C>G
  hgvsp: ENST00000582946.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.69C>G
  hgvsp: ENST00000581287.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.177C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.69C>G
  hgvsp: ENST00000582743.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.69C>G
  hgvsp: ENST00000580098.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.147C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.69C>G
  hgvsp: ENST00000392339.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.140C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.69C>G
  hgvsp: ENST00000578684.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.134C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.69C>G
  hgvsp: ENST00000583237.1:c.69C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
hgvs: p.Ala23Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

17-80193953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193953
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193953
    reference: chr 17
allele count: 3
allele frequency: 2.510586305588565e-5
allele num: 119494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.69C>T
  hgvsp: ENST00000584689.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.69C>T
  hgvsp: ENST00000578522.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.177C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.147C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.69C>T
  hgvsp: ENST00000582946.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.69C>T
  hgvsp: ENST00000583237.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.69C>T
  hgvsp: ENST00000392341.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.69C>T
  hgvsp: ENST00000580189.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.69C>T
  hgvsp: ENST00000580098.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.69C>T
  hgvsp: ENST00000581287.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.69C>T
  hgvsp: ENST00000392339.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.69C>T
  hgvsp: ENST00000578684.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+27C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.134C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.69C>T
  hgvsp: ENST00000582743.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.140C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.69C>T
  hgvsp: ENST00000582715.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala23Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-80193954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193954
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193954
    reference: chr 17
allele count: 1
allele frequency: 8.364141253617491e-6
allele num: 119558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.70G>A
  hgvsp: ENSP00000463912.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.70G>A
  hgvsp: ENSP00000463978.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.70G>A
  hgvsp: ENSP00000464625.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.70G>A
  hgvsp: ENSP00000463508.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.148G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.70G>A
  hgvsp: ENSP00000463880.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.178G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.70G>A
  hgvsp: ENSP00000376150.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.70G>A
  hgvsp: ENSP00000464326.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.70G>A
  hgvsp: ENSP00000464381.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.70G>A
  hgvsp: ENSP00000464112.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.141G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.70G>A
  hgvsp: ENSP00000462405.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.70G>A
  hgvsp: ENSP00000376152.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.70G>A
  hgvsp: ENSP00000462854.1:p.Val24Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.135G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+28G>A
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val24Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-80193960-TTCGGCTGTTTCG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193960
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193948
    reference: chr 17
allele count: 2
allele frequency: 1.67000668002672e-5
allele num: 119760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsp: ENSP00000463880.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsp: ENSP00000462854.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsp: ENSP00000376150.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsp: ENSP00000464326.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsp: ENSP00000376152.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsp: ENSP00000464625.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsp: ENSP00000464381.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsp: ENSP00000462405.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsp: ENSP00000463508.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsp: ENSP00000464112.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsp: ENSP00000463912.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsp: ENSP00000463978.1:p.Gly27_Val30del
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly27_Val30del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TTCGGCTGTTTCG
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-80193962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193962
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193962
    reference: chr 17
allele count: 3
allele frequency: 2.504299046696829e-5
allele num: 119794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.149C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.78C>T
  hgvsp: ENST00000581287.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.78C>T
  hgvsp: ENST00000580098.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.78C>T
  hgvsp: ENST00000392339.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.156C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.78C>T
  hgvsp: ENST00000580189.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.78C>T
  hgvsp: ENST00000578684.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.78C>T
  hgvsp: ENST00000582946.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.78C>T
  hgvsp: ENST00000584689.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.78C>T
  hgvsp: ENST00000583237.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.78C>T
  hgvsp: ENST00000582743.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+36C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.78C>T
  hgvsp: ENST00000582715.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.78C>T
  hgvsp: ENST00000392341.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.186C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.143C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.78C>T
  hgvsp: ENST00000578522.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe26Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-80193963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193963
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193963
    reference: chr 17
allele count: 7
allele frequency: 5.84180394905947e-5
allele num: 119826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.79G>A
  hgvsp: ENSP00000464625.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.79G>A
  hgvsp: ENSP00000376150.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.79G>A
  hgvsp: ENSP00000462854.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.144G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.42+37G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.79G>A
  hgvsp: ENSP00000464326.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.79G>A
  hgvsp: ENSP00000463880.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.79G>A
  hgvsp: ENSP00000464381.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.79G>A
  hgvsp: ENSP00000463508.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.157G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.79G>A
  hgvsp: ENSP00000463978.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.79G>A
  hgvsp: ENSP00000462405.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.79G>A
  hgvsp: ENSP00000464112.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.79G>A
  hgvsp: ENSP00000376152.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.79G>A
  hgvsp: ENSP00000463912.1:p.Gly27Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.150G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.187G>A
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly27Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-80193967-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193967
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193968
    reference: chr 17
allele count: 1
allele frequency: 8.339588024351597e-6
allele num: 119910
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.86dupT
  hgvsp: ENSP00000463912.1:p.Val30ArgfsTer79
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.86dupT
  hgvsp: ENSP00000464326.1:p.Val30ArgfsTer27
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.86dupT
  hgvsp: ENSP00000463978.1:p.Val30ArgfsTer127
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.86dupT
  hgvsp: ENSP00000376150.1:p.Val30ArgfsTer127
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.164dupT
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.86dupT
  hgvsp: ENSP00000463880.1:p.Val30ArgfsTer127
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.86dupT
  hgvsp: ENSP00000463508.1:p.Val30ArgfsTer?
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.86dupT
  hgvsp: ENSP00000464381.1:p.Val30ArgfsTer127
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.86dupT
  hgvsp: ENSP00000376152.1:p.Val30ArgfsTer127
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.86dupT
  hgvsp: ENSP00000464625.1:p.Val30ArgfsTer127
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.157dupT
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.86dupT
  hgvsp: ENSP00000462405.1:p.Val30ArgfsTer127
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.86dupT
  hgvsp: ENSP00000464112.1:p.Val30ArgfsTer127
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-35dupT
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.86dupT
  hgvsp: ENSP00000462854.1:p.Val30ArgfsTer127
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.151dupT
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.194dupT
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val30ArgfsTer127
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

17-80193972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193972
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193972
    reference: chr 17
allele count: 31
allele frequency: 2.583893176854985e-4
allele num: 119974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.88G>A
  hgvsp: ENSP00000462405.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.88G>A
  hgvsp: ENSP00000376152.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.88G>A
  hgvsp: ENSP00000463912.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.88G>A
  hgvsp: ENSP00000463508.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.88G>A
  hgvsp: ENSP00000376150.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.88G>A
  hgvsp: ENSP00000464625.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.196G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.88G>A
  hgvsp: ENSP00000464326.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.166G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.88G>A
  hgvsp: ENSP00000464381.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.88G>A
  hgvsp: ENSP00000463880.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.88G>A
  hgvsp: ENSP00000464112.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-33G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.88G>A
  hgvsp: ENSP00000462854.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.159G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.88G>A
  hgvsp: ENSP00000463978.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.153G>A
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14773
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val30Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-80193977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193977
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193977
    reference: chr 17
allele count: 2
allele frequency: 1.666305633779348e-5
allele num: 120026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.93C>T
  hgvsp: ENST00000392339.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.93C>T
  hgvsp: ENST00000581287.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.93C>T
  hgvsp: ENST00000584689.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.93C>T
  hgvsp: ENST00000582715.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.93C>T
  hgvsp: ENST00000578522.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.93C>T
  hgvsp: ENST00000580189.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.201C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.171C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-28C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.93C>T
  hgvsp: ENST00000583237.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.158C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.93C>T
  hgvsp: ENST00000582946.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.93C>T
  hgvsp: ENST00000580098.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.93C>T
  hgvsp: ENST00000578684.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.93C>T
  hgvsp: ENST00000392341.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.164C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.93C>T
  hgvsp: ENST00000582743.1:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile31Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

17-80193982-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193982
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193982
    reference: chr 17
allele count: 1
allele frequency: 8.329446258412741e-6
allele num: 120056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.206G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.98G>C
  hgvsp: ENSP00000463978.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.98G>C
  hgvsp: ENSP00000463880.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.163G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.98G>C
  hgvsp: ENSP00000462405.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.98G>C
  hgvsp: ENSP00000376152.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.98G>C
  hgvsp: ENSP00000463912.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.98G>C
  hgvsp: ENSP00000464112.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.98G>C
  hgvsp: ENSP00000464625.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.98G>C
  hgvsp: ENSP00000376150.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.176G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.98G>C
  hgvsp: ENSP00000464326.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.98G>C
  hgvsp: ENSP00000462854.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.98G>C
  hgvsp: ENSP00000463508.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-23G>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.98G>C
  hgvsp: ENSP00000464381.1:p.Gly33Ala
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.169G>C
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly33Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-80193984-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193984
    reference: chr 17
allele count: 1
allele frequency: 8.328336331534413e-6
allele num: 120072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.100T>C
  hgvsp: ENSP00000464112.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.100T>C
  hgvsp: ENSP00000464381.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.171T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.100T>C
  hgvsp: ENSP00000376152.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.100T>C
  hgvsp: ENSP00000376150.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.100T>C
  hgvsp: ENSP00000463508.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.100T>C
  hgvsp: ENSP00000463978.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-21T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.178T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.165T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.208T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.100T>C
  hgvsp: ENSP00000464326.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.100T>C
  hgvsp: ENSP00000464625.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.100T>C
  hgvsp: ENSP00000462854.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.100T>C
  hgvsp: ENSP00000462405.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.100T>C
  hgvsp: ENSP00000463880.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.100T>C
  hgvsp: ENSP00000463912.1:p.Phe34Leu
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe34Leu
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

17-80193986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193986
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193986
    reference: chr 17
allele count: 270
allele frequency: 2.276828630698396e-3
allele num: 118586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.210C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.102C>T
  hgvsp: ENST00000578522.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.102C>T
  hgvsp: ENST00000580189.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.102C>T
  hgvsp: ENST00000581287.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.180C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.102C>T
  hgvsp: ENST00000582715.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.102C>T
  hgvsp: ENST00000582743.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.102C>T
  hgvsp: ENST00000582946.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.102C>T
  hgvsp: ENST00000580098.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.102C>T
  hgvsp: ENST00000584689.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.102C>T
  hgvsp: ENST00000392341.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.102C>T
  hgvsp: ENST00000583237.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.173C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.102C>T
  hgvsp: ENST00000578684.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-19C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.102C>T
  hgvsp: ENST00000392339.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.167C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38013
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
hgvs: p.Phe34Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-80193988-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193988
    reference: chr 17
allele count: 2
allele frequency: 1.665667266306883e-5
allele num: 120072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.182C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.104C>G
  hgvsp: ENSP00000462854.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.169C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.104C>G
  hgvsp: ENSP00000376152.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.104C>G
  hgvsp: ENSP00000464381.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.104C>G
  hgvsp: ENSP00000463978.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.104C>G
  hgvsp: ENSP00000463508.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.104C>G
  hgvsp: ENSP00000376150.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.104C>G
  hgvsp: ENSP00000463912.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.212C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.104C>G
  hgvsp: ENSP00000464625.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.104C>G
  hgvsp: ENSP00000464112.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.175C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.104C>G
  hgvsp: ENSP00000462405.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.104C>G
  hgvsp: ENSP00000463880.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.104C>G
  hgvsp: ENSP00000464326.1:p.Ser35Cys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-17C>G
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser35Cys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-80193988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193988
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193988
    reference: chr 17
allele count: 1
allele frequency: 8.328336331534413e-6
allele num: 120072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.104C>T
  hgvsp: ENSP00000463912.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.104C>T
  hgvsp: ENSP00000462405.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.169C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.104C>T
  hgvsp: ENSP00000463880.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.212C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.175C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.104C>T
  hgvsp: ENSP00000463978.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.104C>T
  hgvsp: ENSP00000376150.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.104C>T
  hgvsp: ENSP00000463508.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.104C>T
  hgvsp: ENSP00000464112.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.104C>T
  hgvsp: ENSP00000464381.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-17C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.104C>T
  hgvsp: ENSP00000464625.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.104C>T
  hgvsp: ENSP00000464326.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.104C>T
  hgvsp: ENSP00000376152.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.104C>T
  hgvsp: ENSP00000462854.1:p.Ser35Phe
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.182C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser35Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

17-80193992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193992
    reference: chr 17
allele count: 7
allele frequency: 5.82837921100398e-5
allele num: 120102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.216C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.108C>T
  hgvsp: ENST00000584689.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-13C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.108C>T
  hgvsp: ENST00000392339.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.108C>T
  hgvsp: ENST00000582743.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.108C>T
  hgvsp: ENST00000578522.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.186C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.108C>T
  hgvsp: ENST00000580098.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.108C>T
  hgvsp: ENST00000582715.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.108C>T
  hgvsp: ENST00000580189.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.108C>T
  hgvsp: ENST00000582946.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.108C>T
  hgvsp: ENST00000578684.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.108C>T
  hgvsp: ENST00000581287.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.179C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.108C>T
  hgvsp: ENST00000392341.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.173C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.108C>T
  hgvsp: ENST00000583237.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr36Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-80193995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80193995
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80193995
    reference: chr 17
allele count: 7
allele frequency: 5.826632705721753e-5
allele num: 120138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.111C>T
  hgvsp: ENST00000578522.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.111C>T
  hgvsp: ENST00000580098.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.111C>T
  hgvsp: ENST00000392341.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.111C>T
  hgvsp: ENST00000581287.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.111C>T
  hgvsp: ENST00000584689.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.111C>T
  hgvsp: ENST00000582946.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.111C>T
  hgvsp: ENST00000583237.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.182C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.111C>T
  hgvsp: ENST00000392339.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.111C>T
  hgvsp: ENST00000578684.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.111C>T
  hgvsp: ENST00000580189.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.111C>T
  hgvsp: ENST00000582743.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.176C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.111C>T
  hgvsp: ENST00000582715.1:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-10C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.219C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.189C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala37Ala
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-80194001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194001
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194001
    reference: chr 17
allele count: 33
allele frequency: 2.745469974542006e-4
allele num: 120198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.117C>T
  hgvsp: ENST00000580098.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.117C>T
  hgvsp: ENST00000578684.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.117C>T
  hgvsp: ENST00000392339.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.188C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.225C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.117C>T
  hgvsp: ENST00000582743.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.195C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.117C>T
  hgvsp: ENST00000582946.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-4C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.117C>T
  hgvsp: ENST00000581287.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.117C>T
  hgvsp: ENST00000580189.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.117C>T
  hgvsp: ENST00000582715.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.117C>T
  hgvsp: ENST00000392341.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.117C>T
  hgvsp: ENST00000583237.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.182C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.117C>T
  hgvsp: ENST00000584689.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.117C>T
  hgvsp: ENST00000578522.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.43-4C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

17-80194003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194003
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194003
    reference: chr 17
allele count: 1
allele frequency: 8.31849867735871e-6
allele num: 120214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.184A>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.119A>G
  hgvsp: ENSP00000464381.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.43-2A>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.119A>G
  hgvsp: ENSP00000376152.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.119A>G
  hgvsp: ENSP00000464112.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.119A>G
  hgvsp: ENSP00000463508.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.119A>G
  hgvsp: ENSP00000464326.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.119A>G
  hgvsp: ENSP00000462405.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.119A>G
  hgvsp: ENSP00000464625.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.119A>G
  hgvsp: ENSP00000462854.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.119A>G
  hgvsp: ENSP00000376150.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.119A>G
  hgvsp: ENSP00000463978.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.119A>G
  hgvsp: ENSP00000463912.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.190A>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.227A>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.119A>G
  hgvsp: ENSP00000463880.1:p.Lys40Arg
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.197A>G
  variant of: http://identifiers.org/hgnc/10924
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.43-2A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-80194007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194007
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194007
    reference: chr 17
allele count: 6
allele frequency: 4.989770969512499e-5
allele num: 120246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.123C>T
  hgvsp: ENST00000580189.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.123C>T
  hgvsp: ENST00000392341.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.123C>T
  hgvsp: ENST00000580098.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.188C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+3C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.231C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.194C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.123C>T
  hgvsp: ENST00000583237.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.201C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.123C>T
  hgvsp: ENST00000578522.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.45C>T
  hgvsp: ENST00000577650.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.123C>T
  hgvsp: ENST00000582743.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.123C>T
  hgvsp: ENST00000578684.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.123C>T
  hgvsp: ENST00000584689.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.123C>T
  hgvsp: ENST00000392339.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.123C>T
  hgvsp: ENST00000581287.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.123C>T
  hgvsp: ENST00000582946.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.45C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-80194008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194008
    reference: chr 17
allele count: 110
allele frequency: 9.147000615343677e-4
allele num: 120258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.232G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.124G>A
  hgvsp: ENSP00000462854.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.124G>A
  hgvsp: ENSP00000464112.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.124G>A
  hgvsp: ENSP00000376150.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.124G>A
  hgvsp: ENSP00000464625.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.124G>A
  hgvsp: ENSP00000463880.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+4G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.202G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.124G>A
  hgvsp: ENSP00000462405.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.189G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.124G>A
  hgvsp: ENSP00000464381.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.195G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.124G>A
  hgvsp: ENSP00000463912.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.46G>A
  hgvsp: ENSP00000463063.1:p.Val16Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.124G>A
  hgvsp: ENSP00000463508.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.124G>A
  hgvsp: ENSP00000376152.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.124G>A
  hgvsp: ENSP00000463978.1:p.Val42Ile
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val42Ile
num of homozygotes: 1
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-80194016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194016
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194016
    reference: chr 17
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.132C>T
  hgvsp: ENST00000580098.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.132C>T
  hgvsp: ENST00000392339.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.132C>T
  hgvsp: ENST00000581287.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.132C>T
  hgvsp: ENST00000582946.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.132C>T
  hgvsp: ENST00000578522.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+12C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.54C>T
  hgvsp: ENST00000577650.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.132C>T
  hgvsp: ENST00000580189.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.132C>T
  hgvsp: ENST00000392341.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.132C>T
  hgvsp: ENST00000583237.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.197C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.132C>T
  hgvsp: ENST00000584689.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.132C>T
  hgvsp: ENST00000582743.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.132C>T
  hgvsp: ENST00000578684.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.203C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.210C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.240C>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val44Val
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: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-80194017-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194017
    reference: chr 17
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.133T>G
  hgvsp: ENSP00000464112.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.204T>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.241T>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.133T>G
  hgvsp: ENSP00000464625.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.133T>G
  hgvsp: ENSP00000376152.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.198T>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.133T>G
  hgvsp: ENSP00000463880.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.133T>G
  hgvsp: ENSP00000463912.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.133T>G
  hgvsp: ENSP00000462405.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.133T>G
  hgvsp: ENSP00000464381.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.133T>G
  hgvsp: ENSP00000462854.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.133T>G
  hgvsp: ENSP00000376150.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.55T>G
  hgvsp: ENSP00000463063.1:p.Phe19Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.211T>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.133T>G
  hgvsp: ENSP00000463978.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.133T>G
  hgvsp: ENSP00000463508.1:p.Phe45Val
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+13T>G
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe45Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-80194025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194025
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194025
    reference: chr 17
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.141G>A
  hgvsp: ENST00000392341.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.141G>A
  hgvsp: ENST00000583237.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.141G>A
  hgvsp: ENST00000392339.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.141G>A
  hgvsp: ENST00000584689.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+21G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.141G>A
  hgvsp: ENST00000581287.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.63G>A
  hgvsp: ENST00000577650.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.141G>A
  hgvsp: ENST00000578684.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.141G>A
  hgvsp: ENST00000582743.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.141G>A
  hgvsp: ENST00000580098.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.141G>A
  hgvsp: ENST00000578522.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.141G>A
  hgvsp: ENST00000582946.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.141G>A
  hgvsp: ENST00000580189.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.219G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.212G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.206G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.249G>A
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15022
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys47Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-80194028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194028
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194028
    reference: chr 17
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.144G>A
  hgvsp: ENST00000392341.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.144G>A
  hgvsp: ENST00000583237.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.144G>A
  hgvsp: ENST00000582946.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.144G>A
  hgvsp: ENST00000578522.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.252G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.66G>A
  hgvsp: ENST00000577650.1:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+24G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.222G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.144G>A
  hgvsp: ENST00000584689.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.144G>A
  hgvsp: ENST00000582743.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.144G>A
  hgvsp: ENST00000581287.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.144G>A
  hgvsp: ENST00000580189.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.209G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.144G>A
  hgvsp: ENST00000392339.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.215G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.144G>A
  hgvsp: ENST00000578684.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.144G>A
  hgvsp: ENST00000580098.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu48Glu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-80194038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194038
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194038
    reference: chr 17
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.154G>A
  hgvsp: ENSP00000464625.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.154G>A
  hgvsp: ENSP00000376150.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.154G>A
  hgvsp: ENSP00000462405.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.219G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.154G>A
  hgvsp: ENSP00000463912.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.154G>A
  hgvsp: ENSP00000464112.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.154G>A
  hgvsp: ENSP00000463978.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.154G>A
  hgvsp: ENSP00000464381.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.76G>A
  hgvsp: ENSP00000463063.1:p.Glu26Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.225G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.154G>A
  hgvsp: ENSP00000462854.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.154G>A
  hgvsp: ENSP00000463880.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.154G>A
  hgvsp: ENSP00000463508.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+34G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.154G>A
  hgvsp: ENSP00000376152.1:p.Glu52Lys
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.262G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.232G>A
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu52Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-80194040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194040
    reference: chr 17
allele count: 1
allele frequency: 8.316008316008316e-6
allele num: 120250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.156G>A
  hgvsp: ENST00000578684.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.156G>A
  hgvsp: ENST00000580189.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.227G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.156G>A
  hgvsp: ENST00000578522.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.264G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.156G>A
  hgvsp: ENST00000392339.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.156G>A
  hgvsp: ENST00000392341.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.156G>A
  hgvsp: ENST00000583237.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.156G>A
  hgvsp: ENST00000582946.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.156G>A
  hgvsp: ENST00000584689.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.156G>A
  hgvsp: ENST00000582743.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.78G>A
  hgvsp: ENST00000577650.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.156G>A
  hgvsp: ENST00000580098.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.221G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+36G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.234G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.156G>A
  hgvsp: ENST00000581287.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu52Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-80194040-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194040
    reference: chr 17
allele count: 1
allele frequency: 8.316008316008316e-6
allele num: 120250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.156G>T
  hgvsp: ENSP00000464381.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.156G>T
  hgvsp: ENSP00000463508.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.264G>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.156G>T
  hgvsp: ENSP00000462854.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.156G>T
  hgvsp: ENSP00000464625.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.156G>T
  hgvsp: ENSP00000462405.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.156G>T
  hgvsp: ENSP00000463978.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.227G>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.78G>T
  hgvsp: ENSP00000463063.1:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.156G>T
  hgvsp: ENSP00000463912.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.156G>T
  hgvsp: ENSP00000463880.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.156G>T
  hgvsp: ENSP00000376150.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.234G>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.156G>T
  hgvsp: ENSP00000376152.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.156G>T
  hgvsp: ENSP00000464112.1:p.Glu52Asp
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.221G>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+36G>T
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu52Asp
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-80194043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194043
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194043
    reference: chr 17
allele count: 2
allele frequency: 1.663533678239316e-5
allele num: 120226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.237T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.159T>C
  hgvsp: ENST00000583237.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.159T>C
  hgvsp: ENST00000582946.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.159T>C
  hgvsp: ENST00000392341.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.230T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.159T>C
  hgvsp: ENST00000578522.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.224T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.81T>C
  hgvsp: ENST00000577650.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.267T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.159T>C
  hgvsp: ENST00000392339.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.159T>C
  hgvsp: ENST00000584689.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.159T>C
  hgvsp: ENST00000581287.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.159T>C
  hgvsp: ENST00000582743.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.159T>C
  hgvsp: ENST00000578684.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+39T>C
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.159T>C
  hgvsp: ENST00000580189.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.159T>C
  hgvsp: ENST00000580098.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe53Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

17-80194049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194049
    reference: chr 17
allele count: 6
allele frequency: 4.99226199390944e-5
allele num: 120186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.236C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.165C>T
  hgvsp: ENST00000582946.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.165C>T
  hgvsp: ENST00000580098.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.87C>T
  hgvsp: ENST00000577650.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.165C>T
  hgvsp: ENST00000580189.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.165C>T
  hgvsp: ENST00000392339.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.165C>T
  hgvsp: ENST00000578522.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.165C>T
  hgvsp: ENST00000584689.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.165C>T
  hgvsp: ENST00000392341.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.165C>T
  hgvsp: ENST00000582743.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.273C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.165C>T
  hgvsp: ENST00000581287.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+45C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.243C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.165C>T
  hgvsp: ENST00000583237.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.230C>T
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.165C>T
  hgvsp: ENST00000578684.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile55Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

17-80194049-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194049
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194049
    reference: chr 17
allele count: 2
allele frequency: 1.664087331303147e-5
allele num: 120186
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.165C>G
  hgvsp: ENSP00000463978.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.230C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.165C>G
  hgvsp: ENSP00000376150.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.165C>G
  hgvsp: ENSP00000464381.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.87C>G
  hgvsp: ENSP00000463063.1:p.Ile29Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.165C>G
  hgvsp: ENSP00000464625.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.165C>G
  hgvsp: ENSP00000462854.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.236C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.243C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.165C>G
  hgvsp: ENSP00000464112.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.165C>G
  hgvsp: ENSP00000376152.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.165C>G
  hgvsp: ENSP00000463912.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.165C>G
  hgvsp: ENSP00000462405.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.165C>G
  hgvsp: ENSP00000463508.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.165C>G
  hgvsp: ENSP00000463880.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+45C>G
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.273C>G
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile55Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-80194050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80194050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80194050
    reference: chr 17
allele count: 2
allele frequency: 1.664198106142555e-5
allele num: 120178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000584781
  gene symbol: SLC16A3
  hgvsc: ENST00000584781.1:n.244G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462405
  ensembl transcript: ENST00000582743
  gene symbol: SLC16A3
  hgvsc: ENST00000582743.1:c.166G>A
  hgvsp: ENSP00000462405.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376150
  ensembl transcript: ENST00000392339
  gene symbol: SLC16A3
  hgvsc: ENST00000392339.1:c.166G>A
  hgvsp: ENSP00000376150.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463912
  ensembl transcript: ENST00000578684
  gene symbol: SLC16A3
  hgvsc: ENST00000578684.1:c.166G>A
  hgvsp: ENSP00000463912.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000376152
  ensembl transcript: ENST00000392341
  gene symbol: SLC16A3
  hgvsc: ENST00000392341.1:c.166G>A
  hgvsp: ENSP00000376152.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464112
  ensembl transcript: ENST00000580189
  gene symbol: SLC16A3
  hgvsc: ENST00000580189.1:c.166G>A
  hgvsp: ENSP00000464112.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463880
  ensembl transcript: ENST00000580098
  gene symbol: SLC16A3
  hgvsc: ENST00000580098.1:c.166G>A
  hgvsp: ENSP00000463880.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464381
  ensembl transcript: ENST00000582946
  gene symbol: SLC16A3
  hgvsc: ENST00000582946.1:c.166G>A
  hgvsp: ENSP00000464381.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000462854
  ensembl transcript: ENST00000583237
  gene symbol: SLC16A3
  hgvsc: ENST00000583237.1:c.166G>A
  hgvsp: ENSP00000462854.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463508
  ensembl transcript: ENST00000578522
  gene symbol: SLC16A3
  hgvsc: ENST00000578522.1:c.166G>A
  hgvsp: ENSP00000463508.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464326
  ensembl transcript: ENST00000582715
  gene symbol: SLC16A3
  hgvsc: ENST00000582715.1:c.120+46G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463063
  ensembl transcript: ENST00000577650
  gene symbol: SLC16A3
  hgvsc: ENST00000577650.1:c.88G>A
  hgvsp: ENSP00000463063.1:p.Gly30Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000464625
  ensembl transcript: ENST00000584689
  gene symbol: SLC16A3
  hgvsc: ENST00000584689.1:c.166G>A
  hgvsp: ENSP00000464625.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141526
  ensembl protein: ENSP00000463978
  ensembl transcript: ENST00000581287
  gene symbol: SLC16A3
  hgvsc: ENST00000581287.1:c.166G>A
  hgvsp: ENSP00000463978.1:p.Gly56Ser
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000579572
  gene symbol: SLC16A3
  hgvsc: ENST00000579572.1:n.231G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000581642
  gene symbol: SLC16A3
  hgvsc: ENST00000581642.1:n.274G>A
  variant of: http://identifiers.org/hgnc/10924
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141526
  ensembl transcript: ENST00000578574
  gene symbol: SLC16A3
  hgvsc: ENST00000578574.1:n.237G>A
  variant of: http://identifiers.org/hgnc/10924
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly56Ser
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1233
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22567
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2637
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 4710
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10441
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10196
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6546
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 376
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 2.41028387787895e-3
allele num: 3734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3034
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 1.167e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.78729e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

GenotypeDepth
all individuals: 3693
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16571
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3136
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1415
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2934
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21063
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4843
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16404
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.63047138047138e-5
allele num: 38016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

DP
type: SiteQuality
SIO_000300: 8.73419e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 2072
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20180
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2715
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1533
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9633
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19900
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18346
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3752
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 577
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.40686550365785e-4
allele num: 7108
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.268602540834846e-4
allele num: 4408
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.563152321887763e-5
allele num: 13222
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.634e0

DP
type: SiteQuality
SIO_000300: 9.18983e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

FS
type: SiteQuality
SIO_000300: 6.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

GenotypeDepth
all individuals: 20946
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1613
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19301
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8575
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2475
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19220
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3381
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3722
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.178649237472767e-4
allele num: 4590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 9.49784e5

QD
type: SiteQuality
SIO_000300: 1.3e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

GenotypeDepth
all individuals: 2032
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4709
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8169
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2386
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21726
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3211
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.396449704142012e-5
allele num: 13520
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.64133e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQ
type: SiteQuality
SIO_000300: 6.107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.177e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

GenotypeDepth
all individuals: 1877
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5843
bin: 1.25e1
variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 2.15898786648819e-5
allele num: 46318
num of homozygotes: 0

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

Other
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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SIO_000300: -5.1e-3

QD
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SIO_000300: 1.214e1

MQ
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SIO_000300: 6.09e1

MQRankSum
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SIO_000300: 1.64e0

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

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

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

Other
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East Asian
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BaseQRankSum
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SIO_000300: -2.067e0

ReadPosRankSum
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FS
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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allele num: 8044
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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Latino
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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Other
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InbreedingCoeff
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QD
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 18

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele count: 0
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Latino
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South Asian
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African
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 2.138164288768806e-4
allele num: 51446
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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Other
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 1.847404396822464e-5
allele num: 54130
num of homozygotes: 0

African
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allele frequency: 0.0e0
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.829e1

QD
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DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-3

VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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allele frequency: 1.395478649176668e-4
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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allele frequency: 6.454944487477407e-5
allele num: 15492
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African
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Latino
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allele frequency: 1.014816318246397e-4
allele num: 9854
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.707708596605075e-5
allele num: 58558
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Latino
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African
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allele num: 9478
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South Asian
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InbreedingCoeff
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SIO_000300: -2.6e-3

ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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FS
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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SIO_000300: 3.24e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 60162
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Other
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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MQ
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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allele frequency: 4.145077720207254e-4
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

BaseQRankSum
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QD
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MQRankSum
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FS
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.1e-3

ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.578233010321644e-5
allele num: 63362
num of homozygotes: 0

QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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SIO_000300: -1.09e-1

ReadPosRankSum
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SIO_000300: 5.47e-1

FS
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SIO_000300: 7.84e-1

DP
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SIO_000300: 1.432216e6

GenotypeDepth
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variant carriers: 40

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 15

GenotypeDepth
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variant carriers: 25

GenotypeDepth
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GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
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allele count: 34
allele frequency: 3.412284223203533e-3
allele num: 9964
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.452359750667854e-4
allele num: 11230
num of homozygotes: 0

European (Non-Finnish)
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allele count: 32
allele frequency: 5.05034563302926e-4
allele num: 63362
num of homozygotes: 0

East Asian
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allele count: 71
allele frequency: 8.552156106962177e-3
allele num: 8302
num of homozygotes: 0

South Asian
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allele count: 463
allele frequency: 2.832150721800832e-2
allele num: 16348
num of homozygotes: 12

Other
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allele count: 7
allele frequency: 7.990867579908675e-3
allele num: 876
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.432216e6

FS
type: SiteQuality
SIO_000300: 7.84e-1

ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 2.83e-2

ClippingRankSum
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SIO_000300: -1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

GenotypeDepth
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variant carriers: 2

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 10
allele frequency: 1.557389814670612e-4
allele num: 64210
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11406
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VQSLOD
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.55938123752495e-5
allele num: 64128
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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South Asian
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DP
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 3

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

South Asian
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allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.106554830692762e-5
allele num: 64380
num of homozygotes: 0

Latino
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allele count: 0
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African
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 876
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6450
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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QD
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FS
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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South Asian
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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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European (Finnish)
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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African
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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FS
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ClippingRankSum
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MQ
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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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Latino
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allele frequency: 9.561891515994437e-4
allele num: 11504
num of homozygotes: 0

African
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allele count: 8
allele frequency: 7.855459544383347e-4
allele num: 10184
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

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

European (Non-Finnish)
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allele count: 287
allele frequency: 4.398737087331024e-3
allele num: 65246
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.036744609778318e-4
allele num: 6586
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

QD
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SIO_000300: 1.224e1

MQRankSum
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SIO_000300: 3.58e-1

BaseQRankSum
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SIO_000300: -2.711e0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 4.93e-1

InbreedingCoeff
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SIO_000300: 5.1e-3

ClippingRankSum
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SIO_000300: -3.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.469606e6

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.532661006038684e-5
allele num: 65246
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

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

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

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

QD
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ClippingRankSum
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SIO_000300: -3.8e-2

DP
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ReadPosRankSum
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SIO_000300: 4.93e-1

MQRankSum
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SIO_000300: 3.58e-1

VQSLOD
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SIO_000300: 4.83e0

BaseQRankSum
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SIO_000300: -2.711e0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531956614988664e-5
allele num: 65276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

InbreedingCoeff
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SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.28e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 1.459752e6

FS
type: SiteQuality
SIO_000300: 5.049e0

ReadPosRankSum
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SIO_000300: 1.11e0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.057355998532469e-5
allele num: 65416
num of homozygotes: 0

Other
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allele count: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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FS
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SIO_000300: 9.108000000000001e0

MQRankSum
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BaseQRankSum
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DP
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MQ
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SIO_000300: 5.395e1

VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 1.15e0

ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 3

East 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 frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.056514961640737e-5
allele num: 65434
num of homozygotes: 0

African
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Other
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allele frequency: 1.126126126126126e-3
allele num: 888
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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MQRankSum
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SIO_000300: -8.599999999999999e-2

ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

Other
type: Population
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Latino
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allele count: 3
allele frequency: 2.602811035918792e-4
allele num: 11526
num of homozygotes: 0

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

African
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allele frequency: 3.910833007430582e-4
allele num: 10228
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South Asian
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num of homozygotes: 0

East Asian
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 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

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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European (Non-Finnish)
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allele frequency: 1.526437904506045e-5
allele num: 65512
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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QD
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VQSLOD
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DP
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.98e1

BaseQRankSum
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SIO_000300: 1.39e0

ClippingRankSum
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SIO_000300: -7.57e-1

ReadPosRankSum
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SIO_000300: -1.21e-1

MQRankSum
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SIO_000300: 3.71e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

African
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allele frequency: 0.0e0
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South Asian
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Other
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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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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.59920291110726e-3
allele num: 11542
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.26e-1

InbreedingCoeff
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SIO_000300: 2.0e-4

DP
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SIO_000300: 1.469634e6

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 65580
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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SIO_000300: 3.18e-1

InbreedingCoeff
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SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
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SIO_000300: 1.15e0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 1
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allele num: 65604
num of homozygotes: 0

African
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Latino
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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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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DP
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 888
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
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DP
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SIO_000300: 1.470512e6

MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 9

GenotypeQuality
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bin: 9.75e1
variant carriers: 131

South Asian
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East Asian
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European (Non-Finnish)
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African
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QD
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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GenotypeDepth
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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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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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East Asian
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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FS
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DP
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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MQRankSum
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FS
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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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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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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DP
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Latino
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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DP
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QD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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South Asian
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East Asian
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European (Finnish)
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Latino
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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MQ
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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African
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Other
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European (Non-Finnish)
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South Asian
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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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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Latino
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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QD
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DP
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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QD
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MQRankSum
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FS
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MQ
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DP
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South Asian
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African
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European (Finnish)
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East Asian
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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East Asian
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South Asian
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African
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MQRankSum
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ClippingRankSum
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QD
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FS
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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DP
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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South Asian
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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FS
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VQSLOD
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QD
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East Asian
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European (Finnish)
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DP
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FS
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MQ
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SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

GenotypeDepth
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 4983
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14996
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6092
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 781
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 341
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48405
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 376
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043584124665206e-5
allele num: 65712
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.463803255975061e-4
allele num: 11548
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.474379e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

GenotypeDepth
all individuals: 14996
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6092
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 220
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48405
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 7.25e1
variant carriers: 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: 65712
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.942501942501943e-4
allele num: 10296
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 1.474379e6

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

QD
type: SiteQuality
SIO_000300: 1.324e1

GenotypeDepth
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15000
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 0

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