16-72089953-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089953
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089953
    reference: chr 16
allele count: 1
allele frequency: 1.302524292078047e-5
allele num: 76774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11697A>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1429T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1397T>G
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-107T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-107T>G
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-72089957-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089957
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089955
    reference: chr 16
allele count: 71
allele frequency: 9.100697292863003e-4
allele num: 78016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-102_36-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-102_36-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1434_1435delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-102_6-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-102_6-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-102_6-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-102_6-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-102_6-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-102_6-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-102_6-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1402_5+1403delAT
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-102_6-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-102_6-101delAT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11703_285-11702delAT
  variant of: http://identifiers.org/hgnc/26041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11699
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: CAT
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-72089958-A-ATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089958
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089960
    reference: chr 16
allele count: 1698
allele frequency: 2.362073282697605e-2
allele num: 71886
alternate allele: ATG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-84_6-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-84_6-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-84_36-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-84_6-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-84_6-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-84_6-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-84_6-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1420_5+1421dupGT
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1452_1453dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11704_285-11703dupCA
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-84_36-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-84_6-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-84_6-83dupGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-84_6-83dupGT
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 1.25e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 9.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 2.25e1
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

16-72089958-A-ATGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089958
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089962
    reference: chr 16
allele count: 1145
allele frequency: 1.592799710652978e-2
allele num: 71886
alternate allele: ATGTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-86_6-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-86_36-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-86_6-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1450_1453dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1418_5+1421dupGTGT
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-86_6-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-86_6-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-86_6-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-86_6-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-86_6-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11706_285-11703dupCACA
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-86_6-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-86_36-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-86_6-83dupGTGT
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 1.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 9.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 1.75e1
  variant carriers: 237
genotype quality: GenotypeQuality
num of homozygotes: 3
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

16-72089958-A-ATGTGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089958
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089964
    reference: chr 16
allele count: 12
allele frequency: 1.669309740422335e-4
allele num: 71886
alternate allele: ATGTGTG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-88_6-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1448_1453dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-88_36-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-88_6-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-88_6-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-88_36-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-88_6-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-88_6-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-88_6-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-88_6-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-88_6-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-88_6-83dupGTGTGT
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

16-72089958-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089958
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089956
    reference: chr 16
allele count: 25564
allele frequency: 3.556186183679715e-1
allele num: 71886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-84_36-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-84_6-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-84_6-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-84_6-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1452_1453delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-84_6-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-84_6-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-84_6-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-84_6-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-84_36-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-84_6-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-84_6-83delGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1420_5+1421delGT
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11704_285-11703delCA
  variant of: http://identifiers.org/hgnc/26041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 857
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 2.25e1
  variant carriers: 5446
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 1827
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.75e1
  variant carriers: 442
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 1.75e1
  variant carriers: 4954
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 407
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 1.25e1
  variant carriers: 2045
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.75e1
  variant carriers: 3359
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 275
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: ATG
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

16-72089958-ATGTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089958
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089954
    reference: chr 16
allele count: 180
allele frequency: 2.503964610633503e-3
allele num: 71886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-86_36-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-86_6-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-86_6-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1418_5+1421delGTGT
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11706_285-11703delCACA
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-86_6-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-86_6-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-86_36-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-86_6-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-86_6-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1450_1453delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-86_6-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-86_6-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-86_6-83delGTGT
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 1.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: ATGTG
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-72089958-ATGTGTGTGTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089958
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089948
    reference: chr 16
allele count: 3
allele frequency: 4.173274351055838e-5
allele num: 71886
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17545
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16786
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 580
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5128
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7100
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12386
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: ATGTGTGTGTG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

16-72089964-GTGTGTGTGTGTGTACATGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089964
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089944
    reference: chr 16
allele count: 2
allele frequency: 1.772672481032404e-5
allele num: 112824
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: GTGTGTGTGTGTGTACATGCA
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

16-72089972-GTGTGTACATGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089972
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089960
    reference: chr 16
allele count: 3
allele frequency: 2.60235947258848e-5
allele num: 115280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: GTGTGTACATGCA
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

16-72089973-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089973
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089973
    reference: chr 16
allele count: 1
allele frequency: 8.652465087303372e-6
allele num: 115574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1449T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11717A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1417T>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-87T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-87T>C
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-72089981-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089981
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089981
    reference: chr 16
allele count: 1
allele frequency: 8.567365192508696e-6
allele num: 116722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1457T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11725A>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1425T>G
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-79T>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-79T>G
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/16-72089984-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089984
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089984
    reference: chr 16
allele count: 2
allele frequency: 1.717032967032967e-5
allele num: 116480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1460A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1428A>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-76A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11728T>G
  variant of: http://identifiers.org/hgnc/26041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

16-72089984-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089984
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089984
    reference: chr 16
allele count: 3
allele frequency: 2.575549450549451e-5
allele num: 116480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1460A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1428A>G
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11728T>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-76A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-76A>G
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12769
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

16-72089998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72089998
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72089998
    reference: chr 16
allele count: 3
allele frequency: 2.515765463571716e-5
allele num: 119248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1474G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1442G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-62G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11742C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-62G>A
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/16-72090004-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090004
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090004
    reference: chr 16
allele count: 2
allele frequency: 1.669337606837607e-5
allele num: 119808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1480A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1448A>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-56A>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11748T>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-56A>C
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-72090011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090011
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090011
    reference: chr 16
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1455G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1487G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11755C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-49G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-49G>A
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

16-72090012-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090012
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090012
    reference: chr 16
allele count: 2
allele frequency: 1.66306336271412e-5
allele num: 120260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1488T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1456T>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11756A>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-48T>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-48T>A
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15719
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-72090013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090013
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090013
    reference: chr 16
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1457G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11757C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1489G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-47G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-47G>A
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

16-72090026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090026
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090026
    reference: chr 16
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1470T>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11770A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1502T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-34T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-34T>C
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

16-72090035-ACTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090035
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090032
    reference: chr 16
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1485_5+1487delCCT
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-19_6-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-19_6-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-19_6-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-19_36-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-19_6-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1517_1519delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-19_6-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-19_6-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-19_6-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-19_6-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-19_6-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-19_36-17delCCT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11782_285-11780delGAG
  variant of: http://identifiers.org/hgnc/26041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: ACTC
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

16-72090035-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090035
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090035
    reference: chr 16
allele count: 8
allele frequency: 6.627673852169734e-5
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1511A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1479A>G
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11779T>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-25A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-25A>G
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-72090036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090036
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090036
    reference: chr 16
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1512C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1480C>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-24C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11780G>A
  variant of: http://identifiers.org/hgnc/26041
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-72090041-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090041
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090038
    reference: chr 16
allele count: 5
allele frequency: 4.141609926610672e-5
allele num: 120726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-18_6-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-18_36-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1486_5+1488delCTT
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-18_6-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-18_6-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1518_1520delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11788_285-11786delAAG
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-18_6-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-18_6-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-18_6-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-18_6-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-18_6-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-18_6-16delCTT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-18_36-16delCTT
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: CCTT
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

16-72090052-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090052
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090052
    reference: chr 16
allele count: 29
allele frequency: 2.40181544118865e-4
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1496C>G
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1528C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-8C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11796G>C
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.6-8C>G
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

16-72090056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090056
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090056
    reference: chr 16
allele count: 17
allele frequency: 1.407914133801534e-4
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11800C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1532G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1500G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6-4G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6-4G>A
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.6-4G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

16-72090060-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090060
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090060
    reference: chr 16
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.6T>C
  hgvsp: ENST00000564499.1:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.6T>C
  hgvsp: ENST00000570083.1:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1504T>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.6T>C
  hgvsp: ENST00000398131.2:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.6T>C
  hgvsp: ENST00000562526.1:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.36T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11804A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.1T>C
  hgvsp: ENST00000576168.2:c.1T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1536T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.6T>C
  hgvsp: ENST00000565574.1:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.36T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.6T>C
  hgvsp: ENST00000569639.1:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.6T>C
  hgvsp: ENST00000357763.4:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.6T>C
  hgvsp: ENST00000568417.2:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.1T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.1T>C
  hgvsp: ENST00000567612.2:c.1T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.6T>C
  hgvsp: ENST00000355906.5:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.1T>C
  hgvsp: ENST00000567185.3:c.1T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.6T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

16-72090061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090061
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090061
    reference: chr 16
allele count: 6
allele frequency: 4.969108707534825e-5
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.7G>A
  hgvsp: ENSP00000463755.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.2G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.7G>A
  hgvsp: ENSP00000350406.5:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.37G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.7G>A
  hgvsp: ENSP00000456503.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.7G>A
  hgvsp: ENSP00000457629.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11805C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.7G>A
  hgvsp: ENSP00000454413.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.37G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.7G>A
  hgvsp: ENSP00000462662.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.2G>A
  hgvsp: ENSP00000464070.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.7G>A
  hgvsp: ENSP00000454966.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.2G>A
  hgvsp: ENSP00000463491.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.7G>A
  hgvsp: ENSP00000348170.5:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.7G>A
  hgvsp: ENSP00000381199.2:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1505G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.2G>A
  hgvsp: ENSP00000461999.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1537G>A
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala3Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/16-72090062-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090062
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090062
    reference: chr 16
allele count: 623
allele frequency: 5.159676671304578e-3
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.8C>A
  hgvsp: ENSP00000456503.1:p.Ala3Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.8C>A
  hgvsp: ENSP00000454413.1:p.Ala3Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.8C>A
  hgvsp: ENSP00000462662.1:p.Ala3Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1506C>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.3C>A
  hgvsp: ENSP00000464070.1:p.Ala2Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.8C>A
  hgvsp: ENSP00000381199.2:p.Ala3Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1538C>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.3C>A
  hgvsp: ENSP00000461999.1:p.Ala2Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.3C>A
  hgvsp: ENSP00000463491.1:p.Ala2Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.38C>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.3C>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.8C>A
  hgvsp: ENSP00000457629.1:p.Ala3Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11806G>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.8C>A
  hgvsp: ENSP00000454966.1:p.Ala3Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.8C>A
  hgvsp: ENSP00000350406.5:p.Ala3Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.38C>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.8C>A
  hgvsp: ENSP00000463755.1:p.Ala3Asp
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.8C>A
  hgvsp: ENSP00000348170.5:p.Ala3Asp
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala3Asp
num of homozygotes: 14
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum

16-72090066-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090066
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090066
    reference: chr 16
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11810C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.12G>A
  hgvsp: ENST00000355906.5:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.7G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1510G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.12G>A
  hgvsp: ENST00000357763.4:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.7G>A
  hgvsp: ENST00000567612.2:c.7G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.7G>A
  hgvsp: ENST00000567185.3:c.7G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.12G>A
  hgvsp: ENST00000568417.2:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.12G>A
  hgvsp: ENST00000570083.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.12G>A
  hgvsp: ENST00000564499.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.12G>A
  hgvsp: ENST00000569639.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.7G>A
  hgvsp: ENST00000576168.2:c.7G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1542G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.12G>A
  hgvsp: ENST00000565574.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.42G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.12G>A
  hgvsp: ENST00000398131.2:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.42G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.12G>A
  hgvsp: ENST00000562526.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu4Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

16-72090068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090068
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090068
    reference: chr 16
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.14G>A
  hgvsp: ENSP00000454966.1:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.14G>A
  hgvsp: ENSP00000456503.1:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.14G>A
  hgvsp: ENSP00000348170.5:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.14G>A
  hgvsp: ENSP00000350406.5:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.14G>A
  hgvsp: ENSP00000462662.1:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1512G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.14G>A
  hgvsp: ENSP00000463755.1:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.9G>A
  hgvsp: ENSP00000464070.1:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.14G>A
  hgvsp: ENSP00000381199.2:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.9G>A
  hgvsp: ENSP00000463491.1:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.9G>A
  hgvsp: ENSP00000461999.1:p.Gly4Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.14G>A
  hgvsp: ENSP00000457629.1:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.9G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.14G>A
  hgvsp: ENSP00000454413.1:p.Gly5Glu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.44G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.44G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11812C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1544G>A
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly5Glu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

16-72090073-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090073
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090073
    reference: chr 16
allele count: 36
allele frequency: 2.981070204203309e-4
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11817C>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.19G>C
  hgvsp: ENSP00000457629.1:p.Val7Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.14G>C
  hgvsp: ENSP00000463491.1:p.Val6Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.19G>C
  hgvsp: ENSP00000456503.1:p.Val7Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.14G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.49G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1549G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.19G>C
  hgvsp: ENSP00000463755.1:p.Val7Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.14G>C
  hgvsp: ENSP00000464070.1:p.Val6Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.19G>C
  hgvsp: ENSP00000381199.2:p.Val7Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.19G>C
  hgvsp: ENSP00000454966.1:p.Val7Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.19G>C
  hgvsp: ENSP00000462662.1:p.Val7Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.14G>C
  hgvsp: ENSP00000461999.1:p.Val6Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.19G>C
  hgvsp: ENSP00000348170.5:p.Val7Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.19G>C
  hgvsp: ENSP00000350406.5:p.Val7Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1517G>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.49G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.19G>C
  hgvsp: ENSP00000454413.1:p.Val7Leu
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val7Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-72090076-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090076
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090075
    reference: chr 16
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.24delT
  hgvsp: ENSP00000456503.1:p.Ile8MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.24delT
  hgvsp: ENSP00000348170.5:p.Ile8MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.24delT
  hgvsp: ENSP00000462662.1:p.Ile8MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1554delT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.24delT
  hgvsp: ENSP00000463755.1:p.Ile8MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.19delT
  hgvsp: ENSP00000461999.1:p.Ile7MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.19delT
  hgvsp: ENSP00000463491.1:p.Ile7MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.54delT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.19delT
  hgvsp: ENSP00000464070.1:p.Ile7MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11821delA
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.24delT
  hgvsp: ENSP00000454413.1:p.Ile8MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.54delT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.24delT
  hgvsp: ENSP00000350406.5:p.Ile8MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.24delT
  hgvsp: ENSP00000381199.2:p.Ile8MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.19delT
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.24delT
  hgvsp: ENSP00000454966.1:p.Ile8MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1522delT
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.24delT
  hgvsp: ENSP00000457629.1:p.Ile8MetfsTer61
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile8MetfsTer61
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: AT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

16-72090077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090077
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090077
    reference: chr 16
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.18T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.23T>C
  hgvsp: ENSP00000350406.5:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.18T>C
  hgvsp: ENSP00000461999.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.23T>C
  hgvsp: ENSP00000381199.2:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.23T>C
  hgvsp: ENSP00000457629.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.23T>C
  hgvsp: ENSP00000348170.5:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.23T>C
  hgvsp: ENSP00000463755.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.53T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.18T>C
  hgvsp: ENSP00000463491.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.53T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.23T>C
  hgvsp: ENSP00000462662.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1553T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.23T>C
  hgvsp: ENSP00000456503.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.18T>C
  hgvsp: ENSP00000464070.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.23T>C
  hgvsp: ENSP00000454413.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11821A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.23T>C
  hgvsp: ENSP00000454966.1:p.Ile8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1521T>C
  variant of: http://identifiers.org/hgnc/5156
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile8Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-72090079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090079
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090079
    reference: chr 16
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.25G>A
  hgvsp: ENSP00000457629.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.20G>A
  hgvsp: ENSP00000461999.1:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11823C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.20G>A
  hgvsp: ENSP00000464070.1:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.55G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.25G>A
  hgvsp: ENSP00000348170.5:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.25G>A
  hgvsp: ENSP00000456503.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.25G>A
  hgvsp: ENSP00000454966.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.25G>A
  hgvsp: ENSP00000381199.2:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.25G>A
  hgvsp: ENSP00000454413.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.20G>A
  hgvsp: ENSP00000463491.1:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.25G>A
  hgvsp: ENSP00000350406.5:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1555G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.25G>A
  hgvsp: ENSP00000463755.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1523G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.20G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.55G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.25G>A
  hgvsp: ENSP00000462662.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala9Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

16-72090081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090081
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090081
    reference: chr 16
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.57C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.22C>T
  hgvsp: ENST00000567185.3:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.27C>T
  hgvsp: ENST00000568417.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.22C>T
  hgvsp: ENST00000567612.2:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.57C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.27C>T
  hgvsp: ENST00000564499.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.27C>T
  hgvsp: ENST00000398131.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.22C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.27C>T
  hgvsp: ENST00000570083.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1557C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.27C>T
  hgvsp: ENST00000562526.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.27C>T
  hgvsp: ENST00000565574.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.22C>T
  hgvsp: ENST00000576168.2:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.27C>T
  hgvsp: ENST00000357763.4:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1525C>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.27C>T
  hgvsp: ENST00000355906.5:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.27C>T
  hgvsp: ENST00000569639.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11825G>A
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala9Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

16-72090082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090082
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090082
    reference: chr 16
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.23C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.28C>T
  hgvsp: ENSP00000462662.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.28C>T
  hgvsp: ENSP00000350406.5:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.28C>T
  hgvsp: ENSP00000456503.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.23C>T
  hgvsp: ENSP00000463491.1:p.Leu9Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.58C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.28C>T
  hgvsp: ENSP00000454413.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.28C>T
  hgvsp: ENSP00000463755.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.28C>T
  hgvsp: ENSP00000381199.2:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1526C>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.28C>T
  hgvsp: ENSP00000348170.5:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.23C>T
  hgvsp: ENSP00000461999.1:p.Leu9Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.58C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.28C>T
  hgvsp: ENSP00000454966.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.23C>T
  hgvsp: ENSP00000464070.1:p.Leu9Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1558C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.28C>T
  hgvsp: ENSP00000457629.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11826G>A
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu10Phe
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

16-72090085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090085
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090085
    reference: chr 16
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1561C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.31C>T
  hgvsp: ENST00000357763.4:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.31C>T
  hgvsp: ENST00000564499.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.26C>T
  hgvsp: ENST00000576168.2:c.26C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.61C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.31C>T
  hgvsp: ENST00000570083.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.31C>T
  hgvsp: ENST00000355906.5:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.31C>T
  hgvsp: ENST00000565574.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.31C>T
  hgvsp: ENST00000569639.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.26C>T
  hgvsp: ENST00000567612.2:c.26C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.26C>T
  hgvsp: ENST00000567185.3:c.26C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.31C>T
  hgvsp: ENST00000568417.2:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.31C>T
  hgvsp: ENST00000562526.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1529C>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.26C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11829G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.61C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.31C>T
  hgvsp: ENST00000398131.2:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu11Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

16-72090088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090088
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090088
    reference: chr 16
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.34C>T
  hgvsp: ENSP00000457629.1:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.29C>T
  hgvsp: ENSP00000463491.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.34C>T
  hgvsp: ENSP00000462662.1:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.34C>T
  hgvsp: ENSP00000381199.2:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.29C>T
  hgvsp: ENSP00000461999.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.34C>T
  hgvsp: ENSP00000350406.5:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.29C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1564C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.34C>T
  hgvsp: ENSP00000454966.1:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.34C>T
  hgvsp: ENSP00000456503.1:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.29C>T
  hgvsp: ENSP00000464070.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.34C>T
  hgvsp: ENSP00000348170.5:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11832G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.34C>T
  hgvsp: ENSP00000463755.1:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1532C>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.64C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.34C>T
  hgvsp: ENSP00000454413.1:p.Leu12Phe
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.64C>T
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu12Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

16-72090091-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090091
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090091
    reference: chr 16
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.37T>C
  hgvsp: ENSP00000457629.1:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.37T>C
  hgvsp: ENSP00000456503.1:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.32T>C
  hgvsp: ENSP00000464070.1:p.Trp12Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.32T>C
  hgvsp: ENSP00000461999.1:p.Trp12Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.37T>C
  hgvsp: ENSP00000462662.1:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.37T>C
  hgvsp: ENSP00000381199.2:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.37T>C
  hgvsp: ENSP00000454966.1:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.32T>C
  hgvsp: ENSP00000463491.1:p.Trp12Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1567T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.37T>C
  hgvsp: ENSP00000463755.1:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.37T>C
  hgvsp: ENSP00000350406.5:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.37T>C
  hgvsp: ENSP00000454413.1:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1535T>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.67T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.37T>C
  hgvsp: ENSP00000348170.5:p.Trp13Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.32T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11835A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.67T>C
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp13Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

16-72090093-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090093
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090093
    reference: chr 16
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1569G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.39G>C
  hgvsp: ENSP00000463755.1:p.Trp13Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.39G>C
  hgvsp: ENSP00000457629.1:p.Trp13Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.39G>C
  hgvsp: ENSP00000454413.1:p.Trp13Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.39G>C
  hgvsp: ENSP00000350406.5:p.Trp13Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11837C>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.34G>C
  hgvsp: ENSP00000461999.1:p.Trp12Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.39G>C
  hgvsp: ENSP00000454966.1:p.Trp13Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.34G>C
  hgvsp: ENSP00000464070.1:p.Trp12Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.69G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.34G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.34G>C
  hgvsp: ENSP00000463491.1:p.Trp12Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.39G>C
  hgvsp: ENSP00000456503.1:p.Trp13Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1537G>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.69G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.39G>C
  hgvsp: ENSP00000381199.2:p.Trp13Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.39G>C
  hgvsp: ENSP00000348170.5:p.Trp13Cys
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.39G>C
  hgvsp: ENSP00000462662.1:p.Trp13Cys
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp13Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-72090094-G-GGAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090094
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090097
    reference: chr 16
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: GGAC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.41_43dupGAC
  hgvsp: ENSP00000454966.1:p.Gly14_Gln15insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.36_38dupGAC
  hgvsp: ENSP00000463491.1:p.Gly13_Gln14insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.36_38dupGAC
  hgvsp: ENSP00000461999.1:p.Gly13_Gln14insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.41_43dupGAC
  hgvsp: ENSP00000454413.1:p.Gly14_Gln15insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.41_43dupGAC
  hgvsp: ENSP00000350406.5:p.Gly14_Gln15insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.41_43dupGAC
  hgvsp: ENSP00000457629.1:p.Gly14_Gln15insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.71_73dupGAC
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.41_43dupGAC
  hgvsp: ENSP00000462662.1:p.Gly14_Gln15insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1539_5+1541dupGAC
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.36_38dupGAC
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.36_38dupGAC
  hgvsp: ENSP00000464070.1:p.Gly13_Gln14insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.41_43dupGAC
  hgvsp: ENSP00000381199.2:p.Gly14_Gln15insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.41_43dupGAC
  hgvsp: ENSP00000456503.1:p.Gly14_Gln15insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.41_43dupGAC
  hgvsp: ENSP00000463755.1:p.Gly14_Gln15insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11841_285-11839dupGTC
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.41_43dupGAC
  hgvsp: ENSP00000348170.5:p.Gly14_Gln15insArg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1571_1573dupGAC
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.71_73dupGAC
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly14_Gln15insArg
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

16-72090095-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090095
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090095
    reference: chr 16
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.41G>T
  hgvsp: ENSP00000462662.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.36G>T
  hgvsp: ENSP00000461999.1:p.Gly13Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.36G>T
  hgvsp: ENSP00000464070.1:p.Gly13Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.36G>T
  hgvsp: ENSP00000463491.1:p.Gly13Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.36G>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.41G>T
  hgvsp: ENSP00000381199.2:p.Gly14Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.41G>T
  hgvsp: ENSP00000454966.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.41G>T
  hgvsp: ENSP00000456503.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.41G>T
  hgvsp: ENSP00000348170.5:p.Gly14Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1539G>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.71G>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11839C>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.41G>T
  hgvsp: ENSP00000350406.5:p.Gly14Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.41G>T
  hgvsp: ENSP00000457629.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1571G>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.41G>T
  hgvsp: ENSP00000463755.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.71G>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.41G>T
  hgvsp: ENSP00000454413.1:p.Gly14Val
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly14Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

16-72090096-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090096
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090096
    reference: chr 16
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.42A>T
  hgvsp: ENST00000562526.1:c.42A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.37A>T
  hgvsp: ENST00000576168.2:c.37A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.42A>T
  hgvsp: ENST00000355906.5:c.42A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.42A>T
  hgvsp: ENST00000568417.2:c.42A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.72A>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11840T>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.42A>T
  hgvsp: ENST00000398131.2:c.42A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.42A>T
  hgvsp: ENST00000569639.1:c.42A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.37A>T
  hgvsp: ENST00000567612.2:c.37A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1572A>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.42A>T
  hgvsp: ENST00000565574.1:c.42A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.42A>T
  hgvsp: ENST00000357763.4:c.42A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.37A>T
  hgvsp: ENST00000567185.3:c.37A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.72A>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.42A>T
  hgvsp: ENST00000564499.1:c.42A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1540A>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.37A>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.42A>T
  hgvsp: ENST00000570083.1:c.42A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly14Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-72090100-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090100
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090100
    reference: chr 16
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.46C>A
  hgvsp: ENSP00000350406.5:p.Leu16Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.41C>A
  hgvsp: ENSP00000463491.1:p.Leu15Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.41C>A
  hgvsp: ENSP00000464070.1:p.Leu15Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.76C>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.46C>A
  hgvsp: ENSP00000454966.1:p.Leu16Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.46C>A
  hgvsp: ENSP00000463755.1:p.Leu16Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.46C>A
  hgvsp: ENSP00000454413.1:p.Leu16Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.46C>A
  hgvsp: ENSP00000348170.5:p.Leu16Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1544C>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.76C>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.46C>A
  hgvsp: ENSP00000381199.2:p.Leu16Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.46C>A
  hgvsp: ENSP00000462662.1:p.Leu16Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1576C>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11844G>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.41C>A
  hgvsp: ENSP00000461999.1:p.Leu15Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.46C>A
  hgvsp: ENSP00000457629.1:p.Leu16Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.46C>A
  hgvsp: ENSP00000456503.1:p.Leu16Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.41C>A
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu16Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-72090102-T-TTTTGCAGTGGACTCAGGCAATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090102
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090124
    reference: chr 16
allele count: 2
allele frequency: 1.656067832538421e-5
allele num: 120768
alternate allele: TTTTGCAGTGGACTCAGGCAATG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsp: ENSP00000454966.1:p.Asp24ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsp: ENSP00000463491.1:p.Asp23ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsp: ENSP00000381199.2:p.Asp24ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsp: ENSP00000350406.5:p.Asp24ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsp: ENSP00000456503.1:p.Asp24ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsp: ENSP00000454413.1:p.Asp24ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsp: ENSP00000457629.1:p.Asp24ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsp: ENSP00000461999.1:p.Asp23ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsp: ENSP00000463755.1:p.Asp24ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsp: ENSP00000462662.1:p.Asp24ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsp: ENSP00000464070.1:p.Asp23ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsp: ENSP00000348170.5:p.Asp24ValfsTer8
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp24ValfsTer8
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

16-72090109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090109
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090109
    reference: chr 16
allele count: 2
allele frequency: 1.655985559805918e-5
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.55G>C
  hgvsp: ENSP00000350406.5:p.Val19Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.85G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11853C>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.55G>C
  hgvsp: ENSP00000457629.1:p.Val19Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1585G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.50G>C
  hgvsp: ENSP00000461999.1:p.Val18Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.55G>C
  hgvsp: ENSP00000454966.1:p.Val19Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.55G>C
  hgvsp: ENSP00000463755.1:p.Val19Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.55G>C
  hgvsp: ENSP00000462662.1:p.Val19Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.50G>C
  hgvsp: ENSP00000464070.1:p.Val18Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.50G>C
  hgvsp: ENSP00000463491.1:p.Val18Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.55G>C
  hgvsp: ENSP00000456503.1:p.Val19Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.50G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.85G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.55G>C
  hgvsp: ENSP00000381199.2:p.Val19Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.55G>C
  hgvsp: ENSP00000348170.5:p.Val19Leu
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1553G>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.55G>C
  hgvsp: ENSP00000454413.1:p.Val19Leu
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val19Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

16-72090112-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090112
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090112
    reference: chr 16
allele count: 3
allele frequency: 2.484019474712682e-5
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.58G>T
  hgvsp: ENSP00000457629.1:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.53G>T
  hgvsp: ENSP00000461999.1:p.Asp19Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.58G>T
  hgvsp: ENSP00000348170.5:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.88G>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.58G>T
  hgvsp: ENSP00000462662.1:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1556G>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.58G>T
  hgvsp: ENSP00000454966.1:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.53G>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.58G>T
  hgvsp: ENSP00000350406.5:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.53G>T
  hgvsp: ENSP00000463491.1:p.Asp19Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.58G>T
  hgvsp: ENSP00000456503.1:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.53G>T
  hgvsp: ENSP00000464070.1:p.Asp19Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1588G>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.58G>T
  hgvsp: ENSP00000454413.1:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.88G>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.58G>T
  hgvsp: ENSP00000463755.1:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11856C>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.58G>T
  hgvsp: ENSP00000381199.2:p.Asp20Tyr
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp20Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

16-72090115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090115
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090115
    reference: chr 16
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.91T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.56T>C
  hgvsp: ENSP00000461999.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.61T>C
  hgvsp: ENSP00000454966.1:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.91T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.61T>C
  hgvsp: ENSP00000348170.5:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.61T>C
  hgvsp: ENSP00000457629.1:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.56T>C
  hgvsp: ENSP00000463491.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.61T>C
  hgvsp: ENSP00000381199.2:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.61T>C
  hgvsp: ENSP00000462662.1:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.61T>C
  hgvsp: ENSP00000350406.5:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.56T>C
  hgvsp: ENSP00000464070.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.61T>C
  hgvsp: ENSP00000454413.1:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1559T>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.61T>C
  hgvsp: ENSP00000456503.1:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11859A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.61T>C
  hgvsp: ENSP00000463755.1:p.Ser21Pro
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1591T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.56T>C
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser21Pro
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

16-72090120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090120
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090120
    reference: chr 16
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.66C>T
  hgvsp: ENST00000570083.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.96C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.96C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.66C>T
  hgvsp: ENST00000355906.5:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11864G>A
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.61C>T
  hgvsp: ENST00000567185.3:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.61C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.66C>T
  hgvsp: ENST00000398131.2:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.66C>T
  hgvsp: ENST00000565574.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.61C>T
  hgvsp: ENST00000567612.2:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.66C>T
  hgvsp: ENST00000357763.4:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.61C>T
  hgvsp: ENST00000576168.2:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1596C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.66C>T
  hgvsp: ENST00000568417.2:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.66C>T
  hgvsp: ENST00000564499.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.66C>T
  hgvsp: ENST00000569639.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.66C>T
  hgvsp: ENST00000562526.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1564C>T
  variant of: http://identifiers.org/hgnc/5156
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly22Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

16-72090127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090127
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090127
    reference: chr 16
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.68G>A
  hgvsp: ENSP00000461999.1:p.Val24Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.103G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.73G>A
  hgvsp: ENSP00000457629.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.73G>A
  hgvsp: ENSP00000381199.2:p.Val25Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.73G>A
  hgvsp: ENSP00000350406.5:p.Val25Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.73G>A
  hgvsp: ENSP00000454413.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.73G>A
  hgvsp: ENSP00000462662.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.68G>A
  hgvsp: ENSP00000463491.1:p.Val24Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.73G>A
  hgvsp: ENSP00000348170.5:p.Val25Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.68G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.73G>A
  hgvsp: ENSP00000456503.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.103G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11871C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.73G>A
  hgvsp: ENSP00000463755.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.68G>A
  hgvsp: ENSP00000464070.1:p.Val24Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.73G>A
  hgvsp: ENSP00000454966.1:p.Val25Ile
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1603G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1571G>A
  variant of: http://identifiers.org/hgnc/5156
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val25Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-72090131-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090131
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090131
    reference: chr 16
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.77C>G
  hgvsp: ENSP00000348170.5:p.Thr26Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.77C>G
  hgvsp: ENSP00000350406.5:p.Thr26Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.77C>G
  hgvsp: ENSP00000463755.1:p.Thr26Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11875G>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1607C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.77C>G
  hgvsp: ENSP00000457629.1:p.Thr26Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.72C>G
  hgvsp: ENSP00000464070.1:p.Thr25Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.77C>G
  hgvsp: ENSP00000454966.1:p.Thr26Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.72C>G
  hgvsp: ENSP00000463491.1:p.Thr25Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.77C>G
  hgvsp: ENSP00000456503.1:p.Thr26Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1575C>G
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.77C>G
  hgvsp: ENSP00000462662.1:p.Thr26Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.77C>G
  hgvsp: ENSP00000381199.2:p.Thr26Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.72C>G
  hgvsp: ENSP00000461999.1:p.Thr25Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.107C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.107C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.77C>G
  hgvsp: ENSP00000454413.1:p.Thr26Arg
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.72C>G
  variant of: http://identifiers.org/hgnc/5141
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr26Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-72090131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090131
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090131
    reference: chr 16
allele count: 4
allele frequency: 3.312848884398138e-5
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.72C>T
  hgvsp: ENSP00000463491.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.77C>T
  hgvsp: ENSP00000350406.5:p.Thr26Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.77C>T
  hgvsp: ENSP00000454413.1:p.Thr26Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.107C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.107C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.72C>T
  hgvsp: ENSP00000464070.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.72C>T
  hgvsp: ENSP00000461999.1:p.Thr25Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.77C>T
  hgvsp: ENSP00000457629.1:p.Thr26Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1575C>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.77C>T
  hgvsp: ENSP00000456503.1:p.Thr26Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.77C>T
  hgvsp: ENSP00000348170.5:p.Thr26Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1607C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.77C>T
  hgvsp: ENSP00000462662.1:p.Thr26Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.72C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.77C>T
  hgvsp: ENSP00000463755.1:p.Thr26Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.77C>T
  hgvsp: ENSP00000454966.1:p.Thr26Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.77C>T
  hgvsp: ENSP00000381199.2:p.Thr26Met
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11875G>A
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr26Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

16-72090132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090132
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090132
    reference: chr 16
allele count: 7
allele frequency: 5.797869697019895e-5
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.78G>A
  hgvsp: ENST00000357763.4:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.73G>A
  hgvsp: ENST00000567612.2:c.73G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.78G>A
  hgvsp: ENST00000355906.5:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.108G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.73G>A
  hgvsp: ENST00000576168.2:c.73G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.78G>A
  hgvsp: ENST00000565574.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1576G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.78G>A
  hgvsp: ENST00000564499.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.73G>A
  hgvsp: ENST00000567185.3:c.73G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.78G>A
  hgvsp: ENST00000570083.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.78G>A
  hgvsp: ENST00000398131.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.108G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.78G>A
  hgvsp: ENST00000568417.2:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.73G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.78G>A
  hgvsp: ENST00000569639.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1608G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.78G>A
  hgvsp: ENST00000562526.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11876C>T
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr26Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

16-72090135-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090135
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090135
    reference: chr 16
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.81T>C
  hgvsp: ENST00000562526.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.81T>C
  hgvsp: ENST00000568417.2:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1611T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.76T>C
  hgvsp: ENST00000567612.2:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.81T>C
  hgvsp: ENST00000565574.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.81T>C
  hgvsp: ENST00000398131.2:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.81T>C
  hgvsp: ENST00000564499.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.81T>C
  hgvsp: ENST00000355906.5:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.81T>C
  hgvsp: ENST00000570083.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.81T>C
  hgvsp: ENST00000357763.4:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.76T>C
  hgvsp: ENST00000567185.3:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.111T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.76T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.76T>C
  hgvsp: ENST00000576168.2:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.81T>C
  hgvsp: ENST00000569639.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.111T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1579T>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11879A>G
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp27Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

16-72090137-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090137
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090137
    reference: chr 16
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.113T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.83T>C
  hgvsp: ENSP00000350406.5:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.83T>C
  hgvsp: ENSP00000463755.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.78T>C
  hgvsp: ENSP00000464070.1:p.Ile27Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1581T>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.83T>C
  hgvsp: ENSP00000348170.5:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.83T>C
  hgvsp: ENSP00000457629.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.83T>C
  hgvsp: ENSP00000381199.2:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.78T>C
  hgvsp: ENSP00000463491.1:p.Ile27Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.78T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.83T>C
  hgvsp: ENSP00000456503.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.78T>C
  hgvsp: ENSP00000461999.1:p.Ile27Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.83T>C
  hgvsp: ENSP00000454966.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.83T>C
  hgvsp: ENSP00000454413.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.113T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1613T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.83T>C
  hgvsp: ENSP00000462662.1:p.Ile28Thr
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11881A>G
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile28Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

16-72090138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090138
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090138
    reference: chr 16
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1614C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.84C>T
  hgvsp: ENST00000398131.2:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1582C>T
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.84C>T
  hgvsp: ENST00000569639.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.79C>T
  hgvsp: ENST00000567185.3:c.79C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.114C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.84C>T
  hgvsp: ENST00000357763.4:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.84C>T
  hgvsp: ENST00000568417.2:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.79C>T
  hgvsp: ENST00000576168.2:c.79C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.84C>T
  hgvsp: ENST00000355906.5:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.84C>T
  hgvsp: ENST00000570083.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.84C>T
  hgvsp: ENST00000565574.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.84C>T
  hgvsp: ENST00000564499.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.79C>T
  hgvsp: ENST00000567612.2:c.79C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.79C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.84C>T
  hgvsp: ENST00000562526.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.114C>T
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11882G>A
  variant of: http://identifiers.org/hgnc/26041
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile28Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-72090152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090152
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090152
    reference: chr 16
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.83+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.118+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.88+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.83+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.118+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11896A>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.88+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.83+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.88+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1596T>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.88+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1628T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.88+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.88+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.88+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.88+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.83+10T>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.88+10T>C
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

16-72090157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090157
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090157
    reference: chr 16
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1601G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.88+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.118+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.88+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.118+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1633G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.88+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.83+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.88+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.88+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11901C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.88+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.88+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.83+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.88+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.83+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.83+15G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.88+15G>A
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-72090159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090159
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090159
    reference: chr 16
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.88+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1603G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.83+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1635G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.118+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.88+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.88+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.83+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.88+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.118+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.88+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.88+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.83+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.88+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.88+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11903C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.88+17G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.83+17G>A
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

16-72090161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090161
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090161
    reference: chr 16
allele count: 3
allele frequency: 2.488470088589535e-5
allele num: 120556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.118+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.83+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.88+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.83+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1605A>G
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.88+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.118+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.88+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.88+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11905T>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.83+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1637A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.88+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.88+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.88+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.88+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.83+19A>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.88+19A>G
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

16-72090167-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090167
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090167
    reference: chr 16
allele count: 2
allele frequency: 1.659503144758459e-5
allele num: 120518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.88+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.88+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.88+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.88+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.83+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.118+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.118+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1643G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11911C>G
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.83+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.88+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.88+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.83+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1611G>C
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.88+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.83+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.88+25G>C
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.88+25G>C
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-72090169-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090169
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090169
    reference: chr 16
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1645G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.118+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000381199
  ensembl transcript: ENST00000398131
  gene symbol: HP
  hgvsc: ENST00000398131.2:c.88+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000457629
  ensembl transcript: ENST00000570083
  gene symbol: HP
  hgvsc: ENST00000570083.1:c.88+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000461999
  ensembl transcript: ENST00000576168
  gene symbol: HP
  hgvsc: ENST00000576168.2:c.83+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000462662
  ensembl transcript: ENST00000568417
  gene symbol: HP
  hgvsc: ENST00000568417.2:c.88+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463755
  ensembl transcript: ENST00000569639
  gene symbol: HP
  hgvsc: ENST00000569639.1:c.88+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.88+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.83+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.88+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.88+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.118+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454413
  ensembl transcript: ENST00000562526
  gene symbol: HP
  hgvsc: ENST00000562526.1:c.88+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000464070
  ensembl transcript: ENST00000567185
  gene symbol: HP
  hgvsc: ENST00000567185.3:c.83+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000463491
  ensembl transcript: ENST00000567612
  gene symbol: HP
  hgvsc: ENST00000567612.2:c.83+27G>A
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1613G>A
  variant of: http://identifiers.org/hgnc/5156
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11913C>T
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000350406
  ensembl transcript: ENST00000357763
  gene symbol: HP
  hgvsc: ENST00000357763.4:c.88+27G>A
  variant of: http://identifiers.org/hgnc/5141
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

16-72090177-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72090177
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72090177
    reference: chr 16
allele count: 1400
allele frequency: 1.16391207475641e-2
allele num: 120284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000456503
  ensembl transcript: ENST00000564499
  gene symbol: HP
  hgvsc: ENST00000564499.1:c.88+35C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000561927
  gene symbol: HP
  hgvsc: ENST00000561927.3:n.83+35C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000562488
  gene symbol: HP
  hgvsc: ENST00000562488.1:n.118+35C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140830
  ensembl protein: ENSP00000454635
  ensembl transcript: ENST00000562153
  gene symbol: TXNL4B
  hgvsc: ENST00000562153.1:c.285-11921G>C
  variant of: http://identifiers.org/hgnc/26041
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000454966
  ensembl transcript: ENST00000565574
  gene symbol: HP
  hgvsc: ENST00000565574.1:c.88+35C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000566821
  gene symbol: HP
  hgvsc: ENST00000566821.1:n.1653C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl protein: ENSP00000348170
  ensembl transcript: ENST00000355906
  gene symbol: HP
  hgvsc: ENST00000355906.5:c.88+35C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257017
  ensembl transcript: ENST00000565807
  gene symbol: HP
  hgvsc: ENST00000565807.2:n.118+35C>G
  variant of: http://identifiers.org/hgnc/5141
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000261701
  ensembl protein: ENSP00000349451
  ensembl transcript: ENST00000356967
  gene symbol: HPR
  hgvsc: ENST00000356967.5:c.5+1621C>G
  variant of: http://identifiers.org/hgnc/5156
canonical: false
consequence: non coding transcript exon
filter: PASS
num of homozygotes: 85
reference allele: C

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1478
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 815
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4448
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 948
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3017
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20151
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2765
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.504211793020457e-4
allele num: 6648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: -1.069e0

QD
type: SiteQuality
SIO_000300: 1.539e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

DP
type: SiteQuality
SIO_000300: 1.293566e6

GenotypeDepth
all individuals: 1843
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 455
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 723
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 165
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1085
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17979
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4526
bin: 9.75e1
variant carriers: 70

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 689
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 923
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.039279177812192e-5
allele num: 42618
num of homozygotes: 0

East Asian
type: Population
allele count: 60
allele frequency: 1.269035532994924e-2
allele num: 4728
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.794043774668102e-4
allele num: 5574
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.453488372093023e-3
allele num: 688
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 9.027986758952753e-4
allele num: 6646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

DP
type: SiteQuality
SIO_000300: 1.37559e6

QD
type: SiteQuality
SIO_000300: 1.361e1

GenotypeDepth
all individuals: 12272
bin: 1.75e1
variant carriers: 405

GenotypeDepth
all individuals: 595
bin: 8.75e1
variant carriers: 21

GenotypeDepth
all individuals: 7269
bin: 2.75e1
variant carriers: 157

GenotypeDepth
all individuals: 532
bin: 6.75e1
variant carriers: 19

GenotypeDepth
all individuals: 759
bin: 5.25e1
variant carriers: 37

GenotypeQuality
all individuals: 1283
bin: 5.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1253
bin: 8.25e1
variant carriers: 25

GenotypeQuality
all individuals: 1970
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 1239
bin: 7.75e1
variant carriers: 29

GenotypeQuality
all individuals: 1116
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1149
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 15

GenotypeQuality
all individuals: 1202
bin: 2.75e1
variant carriers: 21

GenotypeQuality
all individuals: 16786
bin: 9.75e1
variant carriers: 1513

GenotypeQuality
all individuals: 1597
bin: 6.75e1
variant carriers: 30

GenotypeQuality
all individuals: 17545
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 1009
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3350
bin: 2.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1118
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1382
bin: 5.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1325
bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1114
bin: 8.75e1
variant carriers: 26

GenotypeQuality
all individuals: 1105
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2307
bin: 6.25e1
variant carriers: 22

GenotypeQuality
all individuals: 1157
bin: 9.25e1
variant carriers: 20

South Asian
type: Population
allele count: 109
allele frequency: 8.800258356208623e-3
allele num: 12386
num of homozygotes: 0

East Asian
type: Population
allele count: 26
allele frequency: 6.134969325153374e-3
allele num: 4238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1218
allele frequency: 3.181651951308709e-2
allele num: 38282
num of homozygotes: 1

Latino
type: Population
allele count: 72
allele frequency: 1.40405616224649e-2
allele num: 5128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 42
allele frequency: 1.006711409395973e-2
allele num: 4172
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.896551724137931e-2
allele num: 580
num of homozygotes: 0

African
type: Population
allele count: 220
allele frequency: 3.098591549295775e-2
allele num: 7100
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.81e-2

DP
type: SiteQuality
SIO_000300: 1.954144e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

GenotypeDepth
all individuals: 11871
bin: 2.25e1
variant carriers: 230

GenotypeDepth
all individuals: 606
bin: 5.75e1
variant carriers: 24

GenotypeDepth
all individuals: 532
bin: 6.75e1
variant carriers: 14

GenotypeDepth
all individuals: 984
bin: 4.75e1
variant carriers: 33

GenotypeDepth
all individuals: 513
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1105
bin: 4.25e1
variant carriers: 14

GenotypeQuality
all individuals: 17545
bin: 2.5e0
variant carriers: 8

GenotypeQuality
all individuals: 1325
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1118
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1970
bin: 7.5e0
variant carriers: 20

GenotypeQuality
all individuals: 2307
bin: 6.25e1
variant carriers: 13

GenotypeQuality
all individuals: 1009
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3350
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1597
bin: 6.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1239
bin: 7.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1202
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1253
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1116
bin: 3.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1149
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 16

GenotypeQuality
all individuals: 1283
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1114
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 16786
bin: 9.75e1
variant carriers: 1027

GenotypeQuality
all individuals: 1382
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1157
bin: 9.25e1
variant carriers: 20

Latino
type: Population
allele count: 40
allele frequency: 7.800312012480499e-3
allele num: 5128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12386
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.448275862068965e-3
allele num: 580
num of homozygotes: 0

African
type: Population
allele count: 1079
allele frequency: 1.519718309859155e-1
allele num: 7100
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 6.269264928687111e-4
allele num: 38282
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.81e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

QD
type: SiteQuality
SIO_000300: 3.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 1.954144e6

GenotypeDepth
all individuals: 525
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 606
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4277
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17545
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16786
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1325
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.950078003120125e-4
allele num: 5128
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.816901408450704e-4
allele num: 7100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 2.350974348257667e-4
allele num: 38282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12386
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 3.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 1.954144e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

GenotypeDepth
all individuals: 1368
bin: 4.25e1
variant carriers: 548

GenotypeDepth
all individuals: 525
bin: 7.25e1
variant carriers: 292

GenotypeDepth
all individuals: 574
bin: 8.25e1
variant carriers: 391

GenotypeDepth
all individuals: 583
bin: 9.25e1
variant carriers: 462

GenotypeDepth
all individuals: 4277
bin: 9.75e1
variant carriers: 3582

GenotypeQuality
all individuals: 1597
bin: 6.75e1
variant carriers: 1234

GenotypeQuality
all individuals: 1382
bin: 5.75e1
variant carriers: 1192

GenotypeQuality
all individuals: 16786
bin: 9.75e1
variant carriers: 13508

GenotypeQuality
all individuals: 1009
bin: 4.75e1
variant carriers: 676

GenotypeQuality
all individuals: 3350
bin: 2.25e1
variant carriers: 169

GenotypeQuality
all individuals: 1283
bin: 5.25e1
variant carriers: 1047

GenotypeQuality
all individuals: 1149
bin: 3.25e1
variant carriers: 319

GenotypeQuality
all individuals: 2307
bin: 6.25e1
variant carriers: 1005

GenotypeQuality
all individuals: 1116
bin: 3.75e1
variant carriers: 473

GenotypeQuality
all individuals: 1253
bin: 8.25e1
variant carriers: 1075

GenotypeQuality
all individuals: 1970
bin: 7.5e0
variant carriers: 80

GenotypeQuality
all individuals: 17545
bin: 2.5e0
variant carriers: 62

GenotypeQuality
all individuals: 1118
bin: 1.75e1
variant carriers: 168

GenotypeQuality
all individuals: 1202
bin: 2.75e1
variant carriers: 270

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 1159

GenotypeQuality
all individuals: 1325
bin: 1.25e1
variant carriers: 136

GenotypeQuality
all individuals: 1114
bin: 8.75e1
variant carriers: 989

GenotypeQuality
all individuals: 1239
bin: 7.75e1
variant carriers: 1015

GenotypeQuality
all individuals: 1157
bin: 9.25e1
variant carriers: 977

GenotypeQuality
all individuals: 1105
bin: 4.25e1
variant carriers: 672

East Asian
type: Population
allele count: 1694
allele frequency: 3.997168475696083e-1
allele num: 4238
num of homozygotes: 0

Other
type: Population
allele count: 197
allele frequency: 3.396551724137931e-1
allele num: 580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1032
allele frequency: 2.473633748801534e-1
allele num: 4172
num of homozygotes: 0

South Asian
type: Population
allele count: 5585
allele frequency: 4.509123203616987e-1
allele num: 12386
num of homozygotes: 0

Latino
type: Population
allele count: 2013
allele frequency: 3.925507020280811e-1
allele num: 5128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13419
allele frequency: 3.505302753252181e-1
allele num: 38282
num of homozygotes: 0

African
type: Population
allele count: 1624
allele frequency: 2.287323943661972e-1
allele num: 7100
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.81e-2

DP
type: SiteQuality
SIO_000300: 1.954144e6

QD
type: SiteQuality
SIO_000300: 3.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

GenotypeDepth
all individuals: 525
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 513
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11871
bin: 2.25e1
variant carriers: 56

GenotypeDepth
all individuals: 759
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2307
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1970
bin: 7.5e0
variant carriers: 12

GenotypeQuality
all individuals: 1382
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1253
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 17545
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 1149
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1325
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1202
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1597
bin: 6.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1239
bin: 7.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1105
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 16786
bin: 9.75e1
variant carriers: 128

GenotypeQuality
all individuals: 3350
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1114
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1009
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1157
bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 6
allele frequency: 1.415762151958471e-3
allele num: 4238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 156
allele frequency: 4.075022203646622e-3
allele num: 38282
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 1.170046801872075e-3
allele num: 5128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.396931927133269e-4
allele num: 4172
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.225352112676057e-4
allele num: 7100
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.724137931034483e-3
allele num: 580
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.651542063620217e-4
allele num: 12386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.954144e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.81e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 3.79e0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.836581160858889e-5
allele num: 38282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4172
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.81e-2

QD
type: SiteQuality
SIO_000300: 3.79e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.954144e6

GenotypeDepth
all individuals: 671
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1643
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5101
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GenotypeQuality
all individuals: 456
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GenotypeQuality
all individuals: 1972
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variant carriers: 0

GenotypeQuality
all individuals: 588
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GenotypeQuality
all individuals: 2481
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GenotypeQuality
all individuals: 894
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GenotypeQuality
all individuals: 3247
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variant carriers: 0

GenotypeQuality
all individuals: 331
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variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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East Asian
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South Asian
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

Latino
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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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European (Non-Finnish)
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66500
num of homozygotes: 0

Latino
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allele frequency: 8.698677800974252e-5
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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Other
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South Asian
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9814
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
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allele num: 66516
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Other
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QD
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DP
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VQSLOD
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

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

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

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

European (Finnish)
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East Asian
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Latino
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African
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Other
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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African
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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FS
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8

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

European (Non-Finnish)
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allele count: 8
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allele num: 66708
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9832
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: 5.917e1

VQSLOD
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QD
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SIO_000300: 1.311e1

InbreedingCoeff
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SIO_000300: 2.9e-3

FS
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SIO_000300: 6.16e-1

ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -5.69e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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SIO_000300: -3.222e0

InbreedingCoeff
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SIO_000300: 1.4e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 4
allele frequency: 4.646840148698885e-4
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.017293997965412e-4
allele num: 9830
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
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SIO_000300: 5.95e-1

InbreedingCoeff
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SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.614e1

ClippingRankSum
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SIO_000300: -4.34e-1

ReadPosRankSum
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SIO_000300: 1.13e0

MQRankSum
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SIO_000300: -1.286e0

QD
type: SiteQuality
SIO_000300: 1.691e1

DP
type: SiteQuality
SIO_000300: 2.193741e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 28
allele frequency: 2.849582739670263e-3
allele num: 9826
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
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InbreedingCoeff
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SIO_000300: 1.16e-2

BaseQRankSum
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SIO_000300: 2.62e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -3.71e-1

DP
type: SiteQuality
SIO_000300: 2.195694e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

QD
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SIO_000300: 1.383e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
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allele count: 14
allele frequency: 1.425371614742415e-3
allele num: 9822
num of homozygotes: 0

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

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

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

GenotypeDepth
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variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 8.992266650680415e-5
allele num: 66724
num of homozygotes: 0

ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQRankSum
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FS
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SIO_000300: 5.590000000000001e-1

VQSLOD
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ClippingRankSum
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SIO_000300: -4.5e-1

MQ
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DP
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SIO_000300: 2.194927e6

GenotypeDepth
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variant carriers: 16

GenotypeDepth
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variant carriers: 379

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 21

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 609

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

African
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

East Asian
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allele frequency: 9.291521486643438e-4
allele num: 8610
num of homozygotes: 0

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

South Asian
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allele count: 609
allele frequency: 3.689120426459899e-2
allele num: 16508
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Other
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allele frequency: 1.111111111111111e-3
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ReadPosRankSum
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SIO_000300: 9.01e-1

QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.842e0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

Other
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allele count: 0
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FS
type: SiteQuality
SIO_000300: 7.687e0

InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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QD
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DP
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SIO_000300: 2.186535e6

ReadPosRankSum
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SIO_000300: 6.96e-1

GenotypeDepth
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variant carriers: 0

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

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

Latino
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66732
num of homozygotes: 0

African
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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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European (Finnish)
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allele count: 0
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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variant carriers: 1

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

Other
type: Population
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num of homozygotes: 0

Latino
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South Asian
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East Asian
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African
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European (Non-Finnish)
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allele num: 66732
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European (Finnish)
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

Latino
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European (Finnish)
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African
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East Asian
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South Asian
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Other
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South Asian
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Latino
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European (Finnish)
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BaseQRankSum
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DP
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MQRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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East Asian
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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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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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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Latino
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Other
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.6e-1

MQ
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SIO_000300: 5.966e1

QD
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SIO_000300: 1.242e1

MQRankSum
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SIO_000300: 1.77e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Latino
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Other
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East Asian
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South Asian
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African
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
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South Asian
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Latino
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ClippingRankSum
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SIO_000300: -1.88e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
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SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.482e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 2.178733e6

MQ
type: SiteQuality
SIO_000300: 5.897e1

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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: 900
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 3.4e-3

BaseQRankSum
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SIO_000300: 1.09e0

VQSLOD
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SIO_000300: 4.28e-1

MQRankSum
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SIO_000300: -7.99e-1

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.557e1

ClippingRankSum
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SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 2.176999e6

ReadPosRankSum
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SIO_000300: -4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.339181286549708e-4
allele num: 8550
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VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

FS
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SIO_000300: 2.448e0

QD
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DP
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SIO_000300: 2.171195e6

MQRankSum
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SIO_000300: 1.95e-1

BaseQRankSum
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SIO_000300: 2.83e0

InbreedingCoeff
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SIO_000300: 4.7e-3

ClippingRankSum
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SIO_000300: -3.56e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.52e-1

GenotypeDepth
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variant carriers: 0

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

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: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8548
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.096e0

VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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DP
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BaseQRankSum
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SIO_000300: -2.816e0