11-66130917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130917
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130917
    reference: chr 11
allele count: 27
allele frequency: 2.329071994203199e-4
allele num: 115926
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*141C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*684C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1361C>T
  hgvsp: ENSP00000350024.2:p.Ala454Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.166G>A
  hgvsp: ENSP00000435142.1:p.Ala56Thr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1361C>T
  hgvsp: ENSP00000440329.1:p.Ala454Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*415C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1361C>T
  hgvsp: ENSP00000439456.1:p.Ala454Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1079G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41387
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala56Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-66130923-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130923
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130923
    reference: chr 11
allele count: 1
allele frequency: 8.573535211509113e-6
allele num: 116638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*409T>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1073A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*135T>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1355T>G
  hgvsp: ENSP00000350024.2:p.Phe452Cys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1355T>G
  hgvsp: ENSP00000440329.1:p.Phe452Cys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1355T>G
  hgvsp: ENSP00000439456.1:p.Phe452Cys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.172A>C
  hgvsp: ENSP00000435142.1:p.Lys58Gln
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*678T>G
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys58Gln
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

11-66130924-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130924
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130924
    reference: chr 11
allele count: 1
allele frequency: 8.571771442286263e-6
allele num: 116662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1354T>C
  hgvsp: ENSP00000439456.1:p.Phe452Leu
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1354T>C
  hgvsp: ENSP00000350024.2:p.Phe452Leu
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*134T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*408T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*677T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1354T>C
  hgvsp: ENSP00000440329.1:p.Phe452Leu
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.173A>G
  hgvsp: ENSP00000435142.1:p.Lys58Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1072A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys58Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-66130941-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130941
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130941
    reference: chr 11
allele count: 1
allele frequency: 8.520064752492119e-6
allele num: 117370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*117C>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*660C>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.190G>T
  hgvsp: ENSP00000435142.1:p.Ala64Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1337C>A
  hgvsp: ENSP00000439456.1:p.Ala446Asp
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1337C>A
  hgvsp: ENSP00000440329.1:p.Ala446Asp
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1337C>A
  hgvsp: ENSP00000350024.2:p.Ala446Asp
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*391C>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1055G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala64Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

11-66130955-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130955
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130955
    reference: chr 11
allele count: 20
allele frequency: 1.705611461709023e-4
allele num: 117260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1323A>G
  hgvsp: ENST00000357440.2:c.1323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1041T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*646A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*377A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.204T>C
  hgvsp: ENST00000531602.1:c.204T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*103A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1323A>G
  hgvsp: ENST00000544554.1:c.1323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1323A>G
  hgvsp: ENST00000546034.1:c.1323A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14000
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40802
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser68Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

11-66130966-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130966
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130966
    reference: chr 11
allele count: 1
allele frequency: 8.570595999245788e-6
allele num: 116678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1312C>T
  hgvsp: ENST00000546034.1:c.1312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*92C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1312C>T
  hgvsp: ENST00000357440.2:c.1312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1312C>T
  hgvsp: ENST00000544554.1:c.1312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.215G>A
  hgvsp: ENSP00000435142.1:p.Arg72Lys
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*635C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*366C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1030G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4422
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg72Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

11-66130966-GGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130966
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130963
    reference: chr 11
allele count: 1
allele frequency: 8.570595999245788e-6
allele num: 116678
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.220_222delAAG
  hgvsp: ENSP00000435142.1:p.Lys74del
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*632_*634delTTC
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1309_1311delTTC
  hgvsp: ENSP00000350024.2:p.Phe437del
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1025_483-1023delAAG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*89_*91delTTC
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1309_1311delTTC
  hgvsp: ENSP00000439456.1:p.Phe437del
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1309_1311delTTC
  hgvsp: ENSP00000440329.1:p.Phe437del
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*363_*365delTTC
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14244
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe437del
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: GGAA
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

11-66130984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130984
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130984
    reference: chr 11
allele count: 4
allele frequency: 3.587508296112934e-5
allele num: 111498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1294G>A
  hgvsp: ENSP00000439456.1:p.Ala432Thr
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.233C>T
  hgvsp: ENSP00000435142.1:p.Ala78Val
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*348G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1294G>A
  hgvsp: ENSP00000350024.2:p.Ala432Thr
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1012C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*74G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*617G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1294G>A
  hgvsp: ENSP00000440329.1:p.Ala432Thr
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12858
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34453
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41637
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala78Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-66130985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130985
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130985
    reference: chr 11
allele count: 2
allele frequency: 1.795493311787414e-5
allele num: 111390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*73C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1293C>T
  hgvsp: ENST00000357440.2:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1011G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.234G>A
  hgvsp: ENST00000531602.1:c.234G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*616C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1293C>T
  hgvsp: ENST00000544554.1:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1293C>T
  hgvsp: ENST00000546034.1:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*347C>T
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 34398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala78Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

11-66130987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130987
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130987
    reference: chr 11
allele count: 6
allele frequency: 5.435373410153278e-5
allele num: 110388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.236C>T
  hgvsp: ENSP00000435142.1:p.Pro79Leu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*614G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1291G>A
  hgvsp: ENSP00000350024.2:p.Gly431Ser
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1291G>A
  hgvsp: ENSP00000439456.1:p.Gly431Ser
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*71G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*345G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1009C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1291G>A
  hgvsp: ENSP00000440329.1:p.Gly431Ser
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro79Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

11-66130988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130988
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130988
    reference: chr 11
allele count: 31
allele frequency: 2.809243316719529e-4
allele num: 110350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1290C>T
  hgvsp: ENST00000544554.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*70C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*613C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*344C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-1008G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1290C>T
  hgvsp: ENST00000357440.2:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1290C>T
  hgvsp: ENST00000546034.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.237G>A
  hgvsp: ENST00000531602.1:c.237G>A(p.%3D)
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33434
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro79Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-66130998-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66130998
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66130998
    reference: chr 11
allele count: 1
allele frequency: 9.505342002205239e-6
allele num: 105204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*60G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.247C>A
  hgvsp: ENSP00000435142.1:p.Leu83Ile
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*334G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1280G>T
  hgvsp: ENSP00000440329.1:p.Arg427Met
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-998C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1280G>T
  hgvsp: ENSP00000350024.2:p.Arg427Met
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*603G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1280G>T
  hgvsp: ENSP00000439456.1:p.Arg427Met
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu83Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-66131002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131002
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131002
    reference: chr 11
allele count: 1
allele frequency: 9.811809493906866e-6
allele num: 101918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*599G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1276G>A
  hgvsp: ENSP00000440329.1:p.Glu426Lys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1276G>A
  hgvsp: ENSP00000350024.2:p.Glu426Lys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*56G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*330G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.251C>T
  hgvsp: ENSP00000435142.1:p.Ser84Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1276G>A
  hgvsp: ENSP00000439456.1:p.Glu426Lys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-994C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser84Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

11-66131003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131003
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131003
    reference: chr 11
allele count: 2
allele frequency: 1.962785585302662e-5
allele num: 101896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*329C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.252G>A
  hgvsp: ENST00000531602.1:c.252G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1275C>T
  hgvsp: ENST00000546034.1:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*598C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-993G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*55C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1275C>T
  hgvsp: ENST00000357440.2:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1275C>T
  hgvsp: ENST00000544554.1:c.1275C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26452
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10560
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser84Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

11-66131003-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131003
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131003
    reference: chr 11
allele count: 1
allele frequency: 9.813927926513308e-6
allele num: 101896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1275C>G
  hgvsp: ENSP00000440329.1:p.His425Gln
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*598C>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1275C>G
  hgvsp: ENSP00000439456.1:p.His425Gln
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*55C>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1275C>G
  hgvsp: ENSP00000350024.2:p.His425Gln
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*329C>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-993G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.252G>C
  hgvsp: ENST00000531602.1:c.252G>C(p.%3D)
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His425Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

11-66131016-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131016
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131016
    reference: chr 11
allele count: 3
allele frequency: 3.310600542938489e-5
allele num: 90618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1262A>G
  hgvsp: ENSP00000440329.1:p.Gln421Arg
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*316A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.265T>C
  hgvsp: ENSP00000435142.1:p.Cys89Arg
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*585A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1262A>G
  hgvsp: ENSP00000350024.2:p.Gln421Arg
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*42A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1262A>G
  hgvsp: ENSP00000439456.1:p.Gln421Arg
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-980T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7851
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys89Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

11-66131019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131019
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131019
    reference: chr 11
allele count: 1
allele frequency: 1.166942843139543e-5
allele num: 85694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-1G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-1G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-1G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-1G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.268C>T
  hgvsp: ENST00000531602.1:c.268C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-977C>T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-1G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-1G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1260-1G>A
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

11-66131021-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131021
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131021
    reference: chr 11
allele count: 1
allele frequency: 1.184357012577872e-5
allele num: 84434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-3T>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-3T>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.270A>T
  hgvsp: ENST00000531602.1:c.270A>T(p.%3D)
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-3T>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-3T>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-975A>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-3T>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-3T>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17596
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1260-3T>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

11-66131028-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131028
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131028
    reference: chr 11
allele count: 4
allele frequency: 5.291565244999471e-5
allele num: 75592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-10G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-10G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-10G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-10G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-10G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-10G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.277C>G
  hgvsp: ENSP00000435142.1:p.Pro93Ala
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-968C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18738
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18981
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro93Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

11-66131029-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131029
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131029
    reference: chr 11
allele count: 1
allele frequency: 1.35420616434646e-5
allele num: 73844
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-11G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-11G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-11G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.278C>G
  hgvsp: ENSP00000435142.1:p.Pro93Arg
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-967C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-11G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-11G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-11G>C
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro93Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

11-66131030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131030
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131030
    reference: chr 11
allele count: 2
allele frequency: 2.810883741848437e-5
allele num: 71152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-12C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-966G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.279G>A
  hgvsp: ENST00000531602.1:c.279G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-12C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-12C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-12C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-12C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-12C>T
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro93Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-66131042-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131042
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131042
    reference: chr 11
allele count: 1
allele frequency: 1.764041772509173e-5
allele num: 56688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-24A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-24A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-24A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-24A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.291T>C
  hgvsp: ENST00000531602.1:c.291T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-954T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-24A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-24A>G
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala97Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

11-66131057-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131057
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131057
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 40930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-39C>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-939G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-39C>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.306G>T
  hgvsp: ENSP00000435142.1:p.Trp102Cys
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-39C>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-39C>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-39C>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-39C>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20093
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19273
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp102Cys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

11-66131076-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131076
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131076
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 23810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-58G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.*13C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-58G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-58G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-58G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-58G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-920C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-58G>C
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

11-66131079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131079
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131079
    reference: chr 11
allele count: 1
allele frequency: 4.181301220939956e-5
allele num: 23916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-61G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-61G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-61G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.*16C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-61G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-61G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-917C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-61G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5244
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

11-66131102-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131102
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131102
    reference: chr 11
allele count: 1
allele frequency: 5.032206119162641e-5
allele num: 19872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-84A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-84A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.*39T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-84A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-84A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-84A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-894T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-84A>G
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32582
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27818
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

11-66131110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131110
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131110
    reference: chr 11
allele count: 1
allele frequency: 5.179200331468821e-5
allele num: 19308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.*47G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-92C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-92C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-92C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-92C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-92C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-886G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-92C>T
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7476
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

11-66131113-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131113
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131113
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 19164
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000255468
  ensembl protein: ENSP00000435142
  ensembl transcript: ENST00000531602
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000531602.1:c.*50C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*583-95G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*314-95G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1260-95G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*40-95G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1260-95G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1260-95G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-883C>G
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32492
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4556
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

11-66131645-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131645
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131645
    reference: chr 11
allele count: 1
allele frequency: 4.060419035244437e-5
allele num: 24628
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+51A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+51A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+51A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+51A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+51A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+51A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-351T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

11-66131653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131653
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131653
    reference: chr 11
allele count: 1
allele frequency: 3.955070400253124e-5
allele num: 25284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+43G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-343C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+43G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+43G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+43G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+43G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+43G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6388
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

11-66131654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131654
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131654
    reference: chr 11
allele count: 1
allele frequency: 3.935148748622698e-5
allele num: 25412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+42G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+42G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+42G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-342C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+42G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+42G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+42G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5079
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/11-66131656-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131656
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131656
    reference: chr 11
allele count: 1
allele frequency: 3.881384878124515e-5
allele num: 25764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+40G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+40G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+40G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+40G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-340C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+40G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+40G>T
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

11-66131662-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131662
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131662
    reference: chr 11
allele count: 1
allele frequency: 3.673769287288758e-5
allele num: 27220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-334T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+34A>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+34A>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+34A>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+34A>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+34A>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+34A>T
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20821
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18052
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

11-66131663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131663
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131663
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 27512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+33G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+33G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+33G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+33G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+33G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-333C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+33G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25251
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17589
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20794
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

11-66131669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131669
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131669
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 30718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+27G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-327C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+27G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+27G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+27G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+27G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+27G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28463
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25357
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

11-66131671-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131671
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131671
    reference: chr 11
allele count: 1
allele frequency: 3.109066036562616e-5
allele num: 32164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+25G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-325C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+25G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+25G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+25G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+25G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+25G>C
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/11-66131673-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131673
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131673
    reference: chr 11
allele count: 2
allele frequency: 5.970149253731343e-5
allele num: 33500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+23G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+23G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+23G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+23G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+23G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-323C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+23G>T
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27835
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11911
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

11-66131673-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131673
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131673
    reference: chr 11
allele count: 4
allele frequency: 1.194029850746269e-4
allele num: 33500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+23G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+23G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+23G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+23G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-323C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+23G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+23G>C
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30271
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11911
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-66131675-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131675
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131675
    reference: chr 11
allele count: 1
allele frequency: 2.824699169538444e-5
allele num: 35402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+21G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+21G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-321C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+21G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+21G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+21G>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+21G>T
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

11-66131675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131675
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131675
    reference: chr 11
allele count: 5
allele frequency: 1.412349584769222e-4
allele num: 35402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+21G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+21G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+21G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+21G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+21G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+21G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-321C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30973
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

11-66131677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131677
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131677
    reference: chr 11
allele count: 2
allele frequency: 5.334755934915977e-5
allele num: 37490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+19G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+19G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+19G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+19G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-319C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+19G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+19G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

11-66131680-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131680
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131680
    reference: chr 11
allele count: 1
allele frequency: 2.481266438390154e-5
allele num: 40302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-316C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+16G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+16G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+16G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+16G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+16G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+16G>C
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

11-66131689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131689
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131689
    reference: chr 11
allele count: 1
allele frequency: 1.96479094624332e-5
allele num: 50896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+7G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+7G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+7G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+7G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+7G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+7G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-307C>T
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1259+7G>A
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-66131691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131691
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131691
    reference: chr 11
allele count: 1
allele frequency: 1.870207593042828e-5
allele num: 53470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+5G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+5G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-305C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+5G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+5G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+5G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+5G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30032
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1259+5G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

11-66131692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131692
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131692
    reference: chr 11
allele count: 3
allele frequency: 5.310298438772259e-5
allele num: 56494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259+4C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39+4C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-304G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313+4C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259+4C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582+4C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259+4C>T
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29163
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1259+4C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

11-66131696-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131696
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131696
    reference: chr 11
allele count: 2
allele frequency: 3.164757263117919e-5
allele num: 63196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259G>C
  hgvsp: ENSP00000350024.2:p.Arg420Thr
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259G>C
  hgvsp: ENSP00000440329.1:p.Arg420Thr
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259G>C
  hgvsp: ENSP00000439456.1:p.Arg420Thr
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-300C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg420Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

11-66131696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131696
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131696
    reference: chr 11
allele count: 1
allele frequency: 1.582378631558959e-5
allele num: 63196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*582G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-300C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*39G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1259G>A
  hgvsp: ENSP00000350024.2:p.Arg420Lys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1259G>A
  hgvsp: ENSP00000439456.1:p.Arg420Lys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1259G>A
  hgvsp: ENSP00000440329.1:p.Arg420Lys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*313G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26926
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg420Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

11-66131701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131701
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131701
    reference: chr 11
allele count: 4
allele frequency: 5.731808672226521e-5
allele num: 69786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-295C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1254G>A
  hgvsp: ENST00000357440.2:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1254G>A
  hgvsp: ENST00000544554.1:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*34G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1254G>A
  hgvsp: ENST00000546034.1:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*308G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*577G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20989
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala418Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-66131702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131702
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131702
    reference: chr 11
allele count: 3
allele frequency: 4.154434166066582e-5
allele num: 72212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*576C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*307C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-294G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1253C>T
  hgvsp: ENSP00000350024.2:p.Ala418Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1253C>T
  hgvsp: ENSP00000440329.1:p.Ala418Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1253C>T
  hgvsp: ENSP00000439456.1:p.Ala418Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*33C>T
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22965
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala418Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

11-66131707-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131707
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131707
    reference: chr 11
allele count: 1
allele frequency: 1.239864110893446e-5
allele num: 80654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-289G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1248C>T
  hgvsp: ENST00000357440.2:c.1248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*302C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*28C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*571C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1248C>T
  hgvsp: ENST00000546034.1:c.1248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1248C>T
  hgvsp: ENST00000544554.1:c.1248C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys416Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

11-66131714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131714
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131714
    reference: chr 11
allele count: 2
allele frequency: 2.25007312737664e-5
allele num: 88886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1241C>T
  hgvsp: ENSP00000440329.1:p.Thr414Ile
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*295C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*21C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1241C>T
  hgvsp: ENSP00000350024.2:p.Thr414Ile
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1241C>T
  hgvsp: ENSP00000439456.1:p.Thr414Ile
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*564C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-282G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30134
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr414Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

11-66131718-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131718
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131718
    reference: chr 11
allele count: 1
allele frequency: 1.077655882923465e-5
allele num: 92794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-278G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1237C>G
  hgvsp: ENSP00000350024.2:p.Leu413Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*291C>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*560C>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1237C>G
  hgvsp: ENSP00000440329.1:p.Leu413Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1237C>G
  hgvsp: ENSP00000439456.1:p.Leu413Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*17C>G
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu413Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

11-66131721-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131721
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131721
    reference: chr 11
allele count: 3
allele frequency: 3.142545881169865e-5
allele num: 95464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-275A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*14T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*288T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1234T>C
  hgvsp: ENSP00000439456.1:p.Ser412Pro
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*557T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1234T>C
  hgvsp: ENSP00000350024.2:p.Ser412Pro
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1234T>C
  hgvsp: ENSP00000440329.1:p.Ser412Pro
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32304
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser412Pro
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: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

11-66131722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131722
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131722
    reference: chr 11
allele count: 39
allele frequency: 4.055065712859757e-4
allele num: 96176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*287G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-274C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1233G>A
  hgvsp: ENST00000544554.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*13G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1233G>A
  hgvsp: ENST00000357440.2:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*556G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1233G>A
  hgvsp: ENST00000546034.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32611
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33605
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val411Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-66131730-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131730
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131730
    reference: chr 11
allele count: 1
allele frequency: 9.650832866876412e-6
allele num: 103618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*279T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*5T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*548T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-266A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1225T>C
  hgvsp: ENSP00000350024.2:p.Tyr409His
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1225T>C
  hgvsp: ENSP00000439456.1:p.Tyr409His
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1225T>C
  hgvsp: ENSP00000440329.1:p.Tyr409His
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr409His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-66131732-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131732
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131732
    reference: chr 11
allele count: 1
allele frequency: 9.545992592309748e-6
allele num: 104756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-264C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1223G>C
  hgvsp: ENSP00000350024.2:p.Gly408Ala
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.*3G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*546G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1223G>C
  hgvsp: ENSP00000439456.1:p.Gly408Ala
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1223G>C
  hgvsp: ENSP00000440329.1:p.Gly408Ala
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*277G>C
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36231
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly408Ala
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: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

11-66131737-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131737
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131737
    reference: chr 11
allele count: 1
allele frequency: 9.263204698297423e-6
allele num: 107954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-259A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1218T>C
  hgvsp: ENST00000357440.2:c.1218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*541T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*272T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1218T>C
  hgvsp: ENST00000546034.1:c.1218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1084T>C
  hgvsp: ENSP00000311250.7:p.Ter362GlnextTer69
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1218T>C
  hgvsp: ENST00000544554.1:c.1218T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ter362GlnextTer69
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

11-66131743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131743
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131743
    reference: chr 11
allele count: 4
allele frequency: 3.611151235013722e-5
allele num: 110768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*266C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1212C>T
  hgvsp: ENST00000357440.2:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1212C>T
  hgvsp: ENST00000546034.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1212C>T
  hgvsp: ENST00000544554.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1078C>T
  hgvsp: ENSP00000311250.7:p.Arg360Cys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*535C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-253G>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38833
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg360Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

11-66131749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131749
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131749
    reference: chr 11
allele count: 4
allele frequency: 3.535192844769682e-5
allele num: 113148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1206C>T
  hgvsp: ENST00000357440.2:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1072C>T
  hgvsp: ENSP00000311250.7:p.Leu358Phe
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1206C>T
  hgvsp: ENST00000544554.1:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*260C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1206C>T
  hgvsp: ENST00000546034.1:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-247G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*529C>T
  variant of: http://identifiers.org/hgnc/11004
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39385
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu358Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

11-66131751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131751
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131751
    reference: chr 11
allele count: 2
allele frequency: 1.760625374132892e-5
allele num: 113596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*527C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1204C>T
  hgvsp: ENSP00000439456.1:p.Leu402Phe
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1204C>T
  hgvsp: ENSP00000350024.2:p.Leu402Phe
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1070C>T
  hgvsp: ENSP00000311250.7:p.Ala357Val
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*258C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1204C>T
  hgvsp: ENSP00000440329.1:p.Leu402Phe
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-245G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu402Phe
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

11-66131766-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131766
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131766
    reference: chr 11
allele count: 1
allele frequency: 8.595200440074262e-6
allele num: 116344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1189A>C
  hgvsp: ENSP00000440329.1:p.Ile397Leu
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1189A>C
  hgvsp: ENSP00000439456.1:p.Ile397Leu
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*243A>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1189A>C
  hgvsp: ENSP00000350024.2:p.Ile397Leu
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1055A>C
  hgvsp: ENSP00000311250.7:p.His352Pro
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*512A>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-230T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile397Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

11-66131770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131770
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131770
    reference: chr 11
allele count: 4
allele frequency: 3.424833467472644e-5
allele num: 116794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*508C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1185C>T
  hgvsp: ENST00000546034.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-226G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1051C>T
  hgvsp: ENSP00000311250.7:p.Leu351Phe
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1185C>T
  hgvsp: ENST00000544554.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1185C>T
  hgvsp: ENST00000357440.2:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39810
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu351Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-66131771-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131771
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131771
    reference: chr 11
allele count: 1
allele frequency: 8.556515786771626e-6
allele num: 116870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*238A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*507A>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1050A>G
  hgvsp: ENST00000311161.7:c.1050A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1184A>G
  hgvsp: ENSP00000440329.1:p.Tyr395Cys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1184A>G
  hgvsp: ENSP00000439456.1:p.Tyr395Cys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1184A>G
  hgvsp: ENSP00000350024.2:p.Tyr395Cys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-225T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr395Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

11-66131801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131801
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131801
    reference: chr 11
allele count: 1
allele frequency: 8.452085129401424e-6
allele num: 118314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*208G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1154G>A
  hgvsp: ENSP00000350024.2:p.Arg385Gln
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1154G>A
  hgvsp: ENSP00000440329.1:p.Arg385Gln
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*477G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1020G>A
  hgvsp: ENST00000311161.7:c.1020G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1154G>A
  hgvsp: ENSP00000439456.1:p.Arg385Gln
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-195C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg385Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-66131802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131802
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131802
    reference: chr 11
allele count: 4
allele frequency: 3.382835492709989e-5
allele num: 118244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-194G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1153C>T
  hgvsp: ENSP00000439456.1:p.Arg385Trp
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1153C>T
  hgvsp: ENSP00000350024.2:p.Arg385Trp
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1019C>T
  hgvsp: ENSP00000311250.7:p.Pro340Leu
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*207C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*476C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1153C>T
  hgvsp: ENSP00000440329.1:p.Arg385Trp
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg385Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-66131802-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131802
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131802
    reference: chr 11
allele count: 1
allele frequency: 8.457088731774973e-6
allele num: 118244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*207C>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1153C>G
  hgvsp: ENSP00000439456.1:p.Arg385Gly
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1153C>G
  hgvsp: ENSP00000440329.1:p.Arg385Gly
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-194G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1153C>G
  hgvsp: ENSP00000350024.2:p.Arg385Gly
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*476C>G
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1019C>G
  hgvsp: ENSP00000311250.7:p.Pro340Arg
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg385Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

11-66131807-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131807
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131807
    reference: chr 11
allele count: 5
allele frequency: 4.226685602218164e-5
allele num: 118296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1148G>C
  hgvsp: ENSP00000439456.1:p.Arg383Thr
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*471G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-189C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1014G>C
  hgvsp: ENSP00000311250.7:p.Glu338Asp
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*202G>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1148G>C
  hgvsp: ENSP00000350024.2:p.Arg383Thr
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1148G>C
  hgvsp: ENSP00000440329.1:p.Arg383Thr
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg383Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

11-66131817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131817
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131817
    reference: chr 11
allele count: 8
allele frequency: 6.76887670491082e-5
allele num: 118188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*461G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-179C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1004G>A
  hgvsp: ENSP00000311250.7:p.Arg335His
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1138G>A
  hgvsp: ENSP00000350024.2:p.Val380Met
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1138G>A
  hgvsp: ENSP00000440329.1:p.Val380Met
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1138G>A
  hgvsp: ENSP00000439456.1:p.Val380Met
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*192G>A
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13723
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val380Met
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

11-66131818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131818
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131818
    reference: chr 11
allele count: 3
allele frequency: 2.537598754884877e-5
allele num: 118222
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1137C>T
  hgvsp: ENST00000357440.2:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1137C>T
  hgvsp: ENST00000546034.1:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-178G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.1003C>T
  hgvsp: ENSP00000311250.7:p.Arg335Cys
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*460C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1137C>T
  hgvsp: ENST00000544554.1:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11004
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg335Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

11-66131823-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131823
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131823
    reference: chr 11
allele count: 1
allele frequency: 8.470412847922207e-6
allele num: 118058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.998T>C
  hgvsp: ENSP00000311250.7:p.Val333Ala
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*455T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*186T>C
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1132T>C
  hgvsp: ENSP00000439456.1:p.Cys378Arg
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1132T>C
  hgvsp: ENSP00000350024.2:p.Cys378Arg
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1132T>C
  hgvsp: ENSP00000440329.1:p.Cys378Arg
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-173A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13768
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys378Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

11-66131827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 66131827
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 66131827
    reference: chr 11
allele count: 225
allele frequency: 1.907490928820916e-3
allele num: 117956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000311250
  ensembl transcript: ENST00000311161
  gene symbol: SLC29A2
  hgvsc: ENST00000311161.7:c.994G>A
  hgvsp: ENSP00000311250.7:p.Ala332Thr
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000439456
  ensembl transcript: ENST00000544554
  gene symbol: SLC29A2
  hgvsc: ENST00000544554.1:c.1128G>A
  hgvsp: ENSP00000439456.1:p.Met376Ile
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000444870
  ensembl transcript: ENST00000540386
  gene symbol: SLC29A2
  hgvsc: ENST00000540386.1:c.*182G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255468
  ensembl transcript: ENST00000580881
  gene symbol: RP11-867G23.8
  hgvsc: ENST00000580881.1:n.483-169C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000440329
  ensembl transcript: ENST00000546034
  gene symbol: SLC29A2
  hgvsc: ENST00000546034.1:c.1128G>A
  hgvsp: ENSP00000440329.1:p.Met376Ile
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000442116
  ensembl transcript: ENST00000541567
  gene symbol: SLC29A2
  hgvsc: ENST00000541567.1:c.*451G>A
  variant of: http://identifiers.org/hgnc/11004
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000174669
  ensembl protein: ENSP00000350024
  ensembl transcript: ENST00000357440
  gene symbol: SLC29A2
  hgvsc: ENST00000357440.2:c.1128G>A
  hgvsp: ENSP00000350024.2:p.Met376Ile
  variant of: http://identifiers.org/hgnc/11004
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38102
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met376Ile
num of homozygotes: 2
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

11-66131837-G-A
type: Variant
location: Region
allele count: 1
allele frequency: 8.531840829977476e-6
allele num: 117208
alternate allele: A
canonical: true
consequence: missense
filter: PASS
hgvs: p.Pro373Leu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 274
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.792114695340502e-4
allele num: 11160
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.283775292195552e-5
allele num: 15914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.43717776458457e-4
allele num: 64006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.018122581958868e-4
allele num: 9822
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.184553423359394e-4
allele num: 8442
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.36132e6

QD
type: SiteQuality
SIO_000300: 1.165e1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 2551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
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GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.242197253433208e-5
allele num: 16020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.684e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.573e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 1.368999e6

QD
type: SiteQuality
SIO_000300: 1.598e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.47e0

GenotypeQuality
all individuals: 133
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 48582
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16024
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64374
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.89521437466643e-5
allele num: 11242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

DP
type: SiteQuality
SIO_000300: 1.369772e6

FS
type: SiteQuality
SIO_000300: 4.566e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.471e1

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544306143249838e-5
allele num: 64754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.87e-1

FS
type: SiteQuality
SIO_000300: 1.143e0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

DP
type: SiteQuality
SIO_000300: 1.380628e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.429e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.412e1

GenotypeQuality
all individuals: 2438
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 4517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 20
allele frequency: 1.239464551313832e-3
allele num: 16136
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.380196e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 9.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

GenotypeQuality
all individuals: 48957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

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

GenotypeQuality
all individuals: 202
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 9.25e1
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GenotypeQuality
all individuals: 832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
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variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55337392817199e-5
allele num: 64376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

DP
type: SiteQuality
SIO_000300: 1.372868e6

QD
type: SiteQuality
SIO_000300: 1.355e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.56e-1

GenotypeQuality
all individuals: 168
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 207
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4422
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
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GenotypeQuality
all individuals: 172
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177301624676242e-4
allele num: 8494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64376
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 5.409e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.372868e6

GenotypeQuality
all individuals: 608
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 897
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variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.490134994807892e-5
allele num: 15408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.243173120581177e-5
allele num: 61668
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.226391954868776e-4
allele num: 8154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.914e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.596e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.77e-1

DP
type: SiteQuality
SIO_000300: 1.29095e6

GenotypeQuality
all individuals: 606
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 307
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.363295880149813e-5
allele num: 10680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.494349915573451e-5
allele num: 15398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.285e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 9.06e0

FS
type: SiteQuality
SIO_000300: 2.5767e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.713e0

DP
type: SiteQuality
SIO_000300: 1.290525e6

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 965
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.25e1
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GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 884
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3800
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.915293115312777e-5
allele num: 61034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15294
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.710116250309176e-4
allele num: 8086
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

FS
type: SiteQuality
SIO_000300: 3.351e0

QD
type: SiteQuality
SIO_000300: 1.123e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.276088e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 31

GenotypeQuality
all individuals: 8821
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GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.265822784810127e-3
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.157407407407407e-3
allele num: 5184
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.61882938326568e-4
allele num: 15274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.113733202228778e-4
allele num: 61020
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.457159069415548e-5
allele num: 10574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.27636e6

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.244e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14648
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.711976991029241e-5
allele num: 58412
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 8.654e0

VQSLOD
type: SiteQuality
SIO_000300: -2.205e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.199903e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeQuality
all individuals: 1501
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 698
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.764104011572522e-5
allele num: 56686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 8.428000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

DP
type: SiteQuality
SIO_000300: 1.153951e6

QD
type: SiteQuality
SIO_000300: 1.187e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 211
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variant carriers: 2

GenotypeQuality
all individuals: 583
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.528208023145045e-5
allele num: 56686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
type: SiteQuality
SIO_000300: 1.152414e6

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.175e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.136621959536258e-4
allele num: 8798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.152414e6

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 336
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.957582016045755e-5
allele num: 50356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4016
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MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.432e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 9.95782e5

FS
type: SiteQuality
SIO_000300: 8.707000000000001e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47432
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3796
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South Asian
type: Population
allele count: 1
allele frequency: 7.768800497203231e-5
allele num: 12872
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.32269e5

GenotypeQuality
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.144634125418203e-5
allele num: 46628
num of homozygotes: 0

East Asian
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allele count: 0
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MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 9.680542110358181e-5
allele num: 41320
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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3278
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

DP
type: SiteQuality
SIO_000300: 8.27879e5

MQRankSum
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SIO_000300: 1.0e0

ReadPosRankSum
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SIO_000300: -1.087e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

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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variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11992
num of homozygotes: 0

Latino
type: Population
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allele frequency: 1.63826998689384e-4
allele num: 6104
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6800
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 40204
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
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SIO_000300: 1.1335e1

BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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QD
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3024
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 2.084201750729471e-4
allele num: 4798
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.588527645475254e-5
allele num: 38632
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.301e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.395e0

DP
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SIO_000300: 7.90472e5

QD
type: SiteQuality
SIO_000300: 7.43e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.29663084327817e-5
allele num: 30334
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3504
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2300
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

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

FS
type: SiteQuality
SIO_000300: 5.885e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.637e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

QD
type: SiteQuality
SIO_000300: 1.782e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2126
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21438
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2238
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.66532e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.77e-2

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.278e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.84e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-2

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

East Asian
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allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South 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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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 8.981498113885396e-5
allele num: 11134
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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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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allele frequency: 0.0e0
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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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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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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Other
type: Population
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African
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2144
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.562e1

VQSLOD
type: SiteQuality
SIO_000300: -1.982e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.517e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.72316e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 1165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.72737686139748e-4
allele num: 1746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11100
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 3.054e0

DP
type: SiteQuality
SIO_000300: 4.59182e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.422e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.155172413793103e-3
allele num: 464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.28e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.287e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.261e0

DP
type: SiteQuality
SIO_000300: 4.80864e5

QD
type: SiteQuality
SIO_000300: 1.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.234152652005175e-4
allele num: 3092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.751e1

VQSLOD
type: SiteQuality
SIO_000300: -8.659e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.184e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.19e-1

DP
type: SiteQuality
SIO_000300: 4.85268e5

MQ
type: SiteQuality
SIO_000300: 5.878e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 3.211303789338471e-4
allele num: 3114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.598e0

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

FS
type: SiteQuality
SIO_000300: 3.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.13e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.232e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

DP
type: SiteQuality
SIO_000300: 4.95255e5

MQ
type: SiteQuality
SIO_000300: 5.789e1

VQSLOD
type: SiteQuality
SIO_000300: -1.425e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3513
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.983394539358135e-5
allele num: 12526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.34178e5

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.72e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.858e0

VQSLOD
type: SiteQuality
SIO_000300: -5.429e-1

MQ
type: SiteQuality
SIO_000300: 5.489e1

FS
type: SiteQuality
SIO_000300: 6.419e0

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.255e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.63e-2

DP
type: SiteQuality
SIO_000300: 5.41052e5

QD
type: SiteQuality
SIO_000300: 1.496e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.101e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.498e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 5.92497e5

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.147315282239559e-4
allele num: 8716
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.09144e5

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.84e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 640
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.136621959536258e-4
allele num: 8798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3754
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 6.26514e5

ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.838e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.8106e1

QD
type: SiteQuality
SIO_000300: 1.05e1

VQSLOD
type: SiteQuality
SIO_000300: -2.535e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 959
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variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.262443438914027e-3
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 6.26514e5

QD
type: SiteQuality
SIO_000300: 1.05e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.8106e1

VQSLOD
type: SiteQuality
SIO_000300: -2.535e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.838e0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10485
bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.631264782070053e-5
allele num: 17758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

FS
type: SiteQuality
SIO_000300: 7.348e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.49228e5

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 29043
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 221
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variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.631264782070053e-5
allele num: 17758
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.49034575662326e-4
allele num: 8908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

DP
type: SiteQuality
SIO_000300: 6.49228e5

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 7.348e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 1067
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1072
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.051635292880429e-4
allele num: 19018
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.84e0

QD
type: SiteQuality
SIO_000300: 1.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

DP
type: SiteQuality
SIO_000300: 6.68804e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.03e-2

GenotypeQuality
all individuals: 1146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6783
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 2.277904328018223e-4
allele num: 4390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 3.274e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

DP
type: SiteQuality
SIO_000300: 6.97572e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.741e-1

QD
type: SiteQuality
SIO_000300: 1.538e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11871
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 30483
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GenotypeQuality
all individuals: 752
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variant carriers: 0

GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 2429
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variant carriers: 0

GenotypeQuality
all individuals: 727
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variant carriers: 0

GenotypeQuality
all individuals: 544
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variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 843
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.924573243350536e-5
allele num: 10076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1438
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.99019e5

QD
type: SiteQuality
SIO_000300: 3.126e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.156e0

VQSLOD
type: SiteQuality
SIO_000300: -3.047e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 547
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GenotypeQuality
all individuals: 2049
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variant carriers: 0

GenotypeQuality
all individuals: 3191
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variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.405286343612335e-4
allele num: 2270
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.421e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.276e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 8.26067e5

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

GenotypeQuality
all individuals: 1197
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 1092
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2215
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 562
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.873012832790653e-4
allele num: 10442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1682
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.82e-1

DP
type: SiteQuality
SIO_000300: 8.52254e5

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeQuality
all individuals: 2479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1092
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variant carriers: 1

GenotypeQuality
all individuals: 580
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.56792873051225e-5
allele num: 35920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.922e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 2.494e0

QD
type: SiteQuality
SIO_000300: 1.16e1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

DP
type: SiteQuality
SIO_000300: 9.07709e5

GenotypeQuality
all individuals: 17970
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 254
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1142
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GenotypeQuality
all individuals: 580
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2012
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.254118082546733e-5
allele num: 10806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.494e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

DP
type: SiteQuality
SIO_000300: 9.07709e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.922e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

GenotypeQuality
all individuals: 381
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 7.5e0
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GenotypeQuality
all individuals: 512
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.773049645390071e-4
allele num: 11280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.982809307887787e-5
allele num: 40138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3922
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.64799e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.59e-1

FS
type: SiteQuality
SIO_000300: 1.424e0

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.971e-1

QD
type: SiteQuality
SIO_000300: 7.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

GenotypeQuality
all individuals: 517
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1865
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 1093
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22347
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2474
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.346316283435007e-4
allele num: 4262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.067484662576687e-4
allele num: 6520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.86157e5

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

FS
type: SiteQuality
SIO_000300: 4.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
all individuals: 234
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3178
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variant carriers: 0

GenotypeQuality
all individuals: 1601
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5850
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.420858198351804e-4
allele num: 7038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

QD
type: SiteQuality
SIO_000300: 3.329e1

MQ
type: SiteQuality
SIO_000300: 5.894e1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.056319e6

FS
type: SiteQuality
SIO_000300: 1.183e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.5e0
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GenotypeQuality
all individuals: 15708
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 640
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GenotypeQuality
all individuals: 3513
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.557147306135161e-4
allele num: 12844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.714e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -7.336e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

DP
type: SiteQuality
SIO_000300: 1.123259e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

GenotypeQuality
all individuals: 144
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 292
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variant carriers: 0

GenotypeQuality
all individuals: 1070
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variant carriers: 0

GenotypeQuality
all individuals: 424
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variant carriers: 0

GenotypeQuality
all individuals: 1096
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variant carriers: 1

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.560864962951762e-5
allele num: 13226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.338e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.257e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

QD
type: SiteQuality
SIO_000300: 1.507e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.160647e6

GenotypeQuality
all individuals: 1278
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 1128
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variant carriers: 0

GenotypeQuality
all individuals: 479
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GenotypeQuality
all individuals: 12584
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variant carriers: 0

GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
all individuals: 701
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GenotypeQuality
all individuals: 1100
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 290
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GenotypeQuality
all individuals: 3950
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.476251323427403e-5
allele num: 54782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.81e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 7.476e0

QD
type: SiteQuality
SIO_000300: 1.47e1

DP
type: SiteQuality
SIO_000300: 1.181683e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.848e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeQuality
all individuals: 70
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1073
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variant carriers: 0

GenotypeQuality
all individuals: 267
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GenotypeQuality
all individuals: 888
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GenotypeQuality
all individuals: 1101
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GenotypeQuality
all individuals: 666
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 658
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GenotypeQuality
all individuals: 291
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GenotypeQuality
all individuals: 1131
bin: 9.75e1
variant carriers: 38

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3906
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 4.504504504504504e-3
allele num: 8214
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.55885363357216e-4
allele num: 7816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55150
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.341e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 1.190134e6

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

GenotypeQuality
all individuals: 598
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 520
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GenotypeQuality
all individuals: 1105
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variant carriers: 1

GenotypeQuality
all individuals: 1191
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.696352841391009e-5
allele num: 58950
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.549e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.755e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

FS
type: SiteQuality
SIO_000300: 3.784e0

DP
type: SiteQuality
SIO_000300: 1.260713e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 8197
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1104
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.680502806439687e-5
allele num: 59506
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.273311e6

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

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

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
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GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 509
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 40462
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GenotypeQuality
all individuals: 771
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GenotypeQuality
all individuals: 587
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GenotypeQuality
all individuals: 1216
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GenotypeQuality
all individuals: 270
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60986
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.091941471937104e-4
allele num: 9158
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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Other
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allele frequency: 0.0e0
allele num: 780
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14704
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.27e-1

ClippingRankSum
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SIO_000300: 2.12e-1

BaseQRankSum
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SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
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MQ
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QD
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.303595e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-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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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.607510288065844e-5
allele num: 62208
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5128
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.496255616575137e-4
allele num: 8012
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.869719699960521e-5
allele num: 10132
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

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 4.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
type: SiteQuality
SIO_000300: 8.67e0

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 1.334549e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 15368
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8194
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5378
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.580977676595206e-5
allele num: 63252
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9630
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Latino
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allele count: 3
allele frequency: 2.856054836252856e-4
allele num: 10504
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.883e0

DP
type: SiteQuality
SIO_000300: 1.360507e6

BaseQRankSum
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SIO_000300: -3.18e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9672
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Other
type: Population
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allele frequency: 0.0e0
allele num: 826
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.215066828675577e-4
allele num: 8230
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10554
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.57559715132035e-5
allele num: 63468
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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.085e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 5.169e0

QD
type: SiteQuality
SIO_000300: 1.048e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.632e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.365325e6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547939692269589e-5
allele num: 64602
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5668
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.351e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

FS
type: SiteQuality
SIO_000300: 1.551e0

MQ
type: SiteQuality
SIO_000300: 5.799e1

DP
type: SiteQuality
SIO_000300: 1.399318e6

GenotypeQuality
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variant carriers: 4

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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East Asian
type: Population
allele count: 4
allele frequency: 4.728132387706856e-4
allele num: 8460
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9978
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.408e0

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 1.404183e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.1287e1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.19e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5710
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.542638528939899e-5
allele num: 64824
num of homozygotes: 0

South Asian
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Other
type: Population
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East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.759e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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Other
type: Population
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.81057268722467e-5
allele num: 11350
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FS
type: SiteQuality
SIO_000300: 1.359e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.14e-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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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8558
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Latino
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African
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Other
type: Population
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South Asian
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allele num: 16232
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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BaseQRankSum
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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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5822
num of homozygotes: 0

East Asian
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Latino
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allele count: 0
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African
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.530268715186387e-5
allele num: 65348
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South Asian
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

FS
type: SiteQuality
SIO_000300: 1.175e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.45e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.426481e6

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.118640438094655e-5
allele num: 65374
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.80126738250308e-5
allele num: 11362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.16e1

VQSLOD
type: SiteQuality
SIO_000300: -4.969e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.202e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.887e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.426915e6

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 312
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.924289055767574e-4
allele num: 16246
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 2.159e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 1.241e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.425049e6

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 1410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65352
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.977371973005161e-4
allele num: 10076
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.993e0

QD
type: SiteQuality
SIO_000300: 1.261e1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.86e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-1

DP
type: SiteQuality
SIO_000300: 1.425283e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.64e-1

GenotypeQuality
all individuals: 1392
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46193
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5762
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531721961829489e-5
allele num: 65286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.421182e6

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.453e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
all individuals: 335
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 370
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 9.75e1
variant carriers: 219

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 7.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.200562324273664e-4
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 122
allele frequency: 2.113652113652114e-2
allele num: 5772
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 89
allele frequency: 1.364570237036583e-3
allele num: 65222
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 8.235294117647059e-3
allele num: 850
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.197e1

DP
type: SiteQuality
SIO_000300: 1.421774e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.157e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1