2-241468411-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468411
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468411
    reference: chr 2
allele count: 1
allele frequency: 8.450799445627557e-6
allele num: 118332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+43T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+43T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+43T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+43T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2549T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3145T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+43T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3145T>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-241468412-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468412
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468412
    reference: chr 2
allele count: 1
allele frequency: 8.458233244239943e-6
allele num: 118228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2550G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+42G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+42G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+42G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+42G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3146G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+42G>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-241468414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468414
    reference: chr 2
allele count: 2
allele frequency: 1.688875377885866e-5
allele num: 118422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+40C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+40C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+40C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+40C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2552C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3148C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+40C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3148C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-241468418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468418
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468418
    reference: chr 2
allele count: 13
allele frequency: 1.09643574043149e-4
allele num: 118566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+36T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2556T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+36T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+36T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+36T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+36T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3152T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3152T>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

2-241468419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468419
    reference: chr 2
allele count: 1
allele frequency: 8.444662129068216e-6
allele num: 118418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2557G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+35G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+35G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+35G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+35G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+35G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3153G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3153G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

2-241468420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468420
    reference: chr 2
allele count: 1
allele frequency: 8.423038695439767e-6
allele num: 118722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+34C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+34C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+34C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2558C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+34C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+34C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3154C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3154C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-241468423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468423
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468423
    reference: chr 2
allele count: 1
allele frequency: 8.412409987213136e-6
allele num: 118872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+31G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2561G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+31G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+31G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+31G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+31G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3157G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3157G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-241468427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468427
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468427
    reference: chr 2
allele count: 876
allele frequency: 7.345911949685534e-3
allele num: 119250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+27C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+27C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+27C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2565C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+27C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+27C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3161C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3161C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 28045
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
num of homozygotes: 4
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-241468430-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468430
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468430
    reference: chr 2
allele count: 2
allele frequency: 1.674032409267444e-5
allele num: 119472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+24C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2568C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+24C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+24C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3164C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+24C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+24C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3164C>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28558
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-241468433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468433
    reference: chr 2
allele count: 2
allele frequency: 1.671150921639733e-5
allele num: 119678
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+21C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+21C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2571C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3167C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+21C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+21C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+21C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

2-241468434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468434
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468434
    reference: chr 2
allele count: 1
allele frequency: 8.351149118118652e-6
allele num: 119744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+20T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2572T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+20T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+20T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+20T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+20T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3168T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3168T>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-241468437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468437
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468437
    reference: chr 2
allele count: 1
allele frequency: 8.328197611472925e-6
allele num: 120074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+17T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2575T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+17T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+17T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+17T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+17T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3171T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3171T>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

2-241468438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468438
    reference: chr 2
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.845+16C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.519+16C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2576C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.686+16C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.686+16C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.953+16C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3172C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3172C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

2-241468462-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468462
    reference: chr 2
allele count: 26
allele frequency: 2.143481343468153e-4
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.678C>A
  hgvsp: ENSP00000375847.1:p.Tyr226Ter
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.945C>A
  hgvsp: ENSP00000385887.1:p.Tyr315Ter
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.837C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.678C>A
  hgvsp: ENSP00000407015.1:p.Tyr226Ter
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.511C>A
  hgvsp: ENSP00000404095.1:p.Tyr171Ter
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.678C>A
  hgvsp: ENSP00000272972.3:p.Tyr226Ter
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2600C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3196C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3196C>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15807
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr226Ter
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

2-241468466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468466
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.833C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.674C>T
  hgvsp: ENSP00000272972.3:p.Thr225Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.674C>T
  hgvsp: ENSP00000375847.1:p.Thr225Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.674C>T
  hgvsp: ENSP00000407015.1:p.Thr225Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.941C>T
  hgvsp: ENSP00000385887.1:p.Thr314Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2604C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3200C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.507C>T
  hgvsp: ENSP00000404095.1:p.Thr170Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3200C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr225Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-241468477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468477
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468477
    reference: chr 2
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.822C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.663C>T
  hgvsp: ENST00000272972.3:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.663C>T
  hgvsp: ENST00000391987.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.663C>T
  hgvsp: ENST00000418708.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.930C>T
  hgvsp: ENST00000401804.1:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.496C>T
  hgvsp: ENST00000443318.1:c.496C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2615C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3211C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3211C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile221Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-241468489-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468489
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468489
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2627G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.810G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.918G>T
  hgvsp: ENSP00000385887.1:p.Leu306Phe
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.651G>T
  hgvsp: ENSP00000407015.1:p.Leu217Phe
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.651G>T
  hgvsp: ENSP00000375847.1:p.Leu217Phe
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.651G>T
  hgvsp: ENSP00000272972.3:p.Leu217Phe
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.484G>T
  hgvsp: ENSP00000404095.1:p.Leu162Phe
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3223G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3223G>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu217Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-241468494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468494
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.479C>T
  hgvsp: ENSP00000404095.1:p.Pro161Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.646C>T
  hgvsp: ENSP00000272972.3:p.Pro216Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.646C>T
  hgvsp: ENSP00000375847.1:p.Pro216Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2632C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.646C>T
  hgvsp: ENSP00000407015.1:p.Pro216Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.913C>T
  hgvsp: ENSP00000385887.1:p.Pro305Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.805C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3228C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3228C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro216Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-241468502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468502
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468502
    reference: chr 2
allele count: 68
allele frequency: 5.600764339603993e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.905A>G
  hgvsp: ENSP00000385887.1:p.Asn302Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.638A>G
  hgvsp: ENSP00000375847.1:p.Asn213Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.638A>G
  hgvsp: ENSP00000272972.3:p.Asn213Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.797A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.638A>G
  hgvsp: ENSP00000407015.1:p.Asn213Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.471A>G
  hgvsp: ENSP00000404095.1:p.Asn158Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3236A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2640A>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn213Ser
num of homozygotes: 1
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-241468519-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468519
    reference: chr 2
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.888A>G
  hgvsp: ENST00000401804.1:c.888A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.621A>G
  hgvsp: ENST00000391987.1:c.621A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2657A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.621A>G
  hgvsp: ENST00000418708.1:c.621A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.621A>G
  hgvsp: ENST00000272972.3:c.621A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.454A>G
  hgvsp: ENST00000443318.1:c.454A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.780A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3253A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3253A>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu207Glu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

2-241468528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468528
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.612G>A
  hgvsp: ENST00000272972.3:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2666G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.612G>A
  hgvsp: ENST00000418708.1:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.771G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.612G>A
  hgvsp: ENST00000391987.1:c.612G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.879G>A
  hgvsp: ENST00000401804.1:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.445G>A
  hgvsp: ENST00000443318.1:c.445G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3262G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3262G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu204Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-241468533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468533
    reference: chr 2
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.874G>A
  hgvsp: ENSP00000385887.1:p.Val292Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.607G>A
  hgvsp: ENSP00000272972.3:p.Val203Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.607G>A
  hgvsp: ENSP00000375847.1:p.Val203Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.766G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.440G>A
  hgvsp: ENSP00000404095.1:p.Val148Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.607G>A
  hgvsp: ENSP00000407015.1:p.Val203Ile
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2671G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3267G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3267G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val203Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-241468534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468534
    reference: chr 2
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.606C>T
  hgvsp: ENST00000391987.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2672C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.606C>T
  hgvsp: ENST00000418708.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.439C>T
  hgvsp: ENST00000443318.1:c.439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.765C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.606C>T
  hgvsp: ENST00000272972.3:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.873C>T
  hgvsp: ENST00000401804.1:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3268C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3268C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe202Phe
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

2-241468534-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468534
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.606C>A
  hgvsp: ENSP00000375847.1:p.Phe202Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.439C>A
  hgvsp: ENSP00000404095.1:p.Phe147Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.606C>A
  hgvsp: ENSP00000407015.1:p.Phe202Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.873C>A
  hgvsp: ENSP00000385887.1:p.Phe291Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.606C>A
  hgvsp: ENSP00000272972.3:p.Phe202Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.765C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2672C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3268C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3268C>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe202Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-241468537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468537
    reference: chr 2
allele count: 22
allele frequency: 1.812011992224821e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.870G>A
  hgvsp: ENST00000401804.1:c.870G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.603G>A
  hgvsp: ENST00000391987.1:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.603G>A
  hgvsp: ENST00000272972.3:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.603G>A
  hgvsp: ENST00000418708.1:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.762G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2675G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.436G>A
  hgvsp: ENST00000443318.1:c.436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3271G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3271G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro201Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS

2-241468538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468538
    reference: chr 2
allele count: 9
allele frequency: 7.412776331828814e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2676C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.602C>T
  hgvsp: ENSP00000272972.3:p.Pro201Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.602C>T
  hgvsp: ENSP00000375847.1:p.Pro201Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.869C>T
  hgvsp: ENSP00000385887.1:p.Pro290Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.435C>T
  hgvsp: ENSP00000404095.1:p.Pro146Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.761C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3272C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.602C>T
  hgvsp: ENSP00000407015.1:p.Pro201Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3272C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29452
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro201Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-241468540-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468540
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2678T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.600T>A
  hgvsp: ENST00000391987.1:c.600T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.600T>A
  hgvsp: ENST00000272972.3:c.600T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.867T>A
  hgvsp: ENST00000401804.1:c.867T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.433T>A
  hgvsp: ENST00000443318.1:c.433T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.759T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.600T>A
  hgvsp: ENST00000418708.1:c.600T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3274T>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3274T>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro200Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

2-241468541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468541
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468541
    reference: chr 2
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.599C>T
  hgvsp: ENSP00000407015.1:p.Pro200Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.599C>T
  hgvsp: ENSP00000272972.3:p.Pro200Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.432C>T
  hgvsp: ENSP00000404095.1:p.Pro145Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2679C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.866C>T
  hgvsp: ENSP00000385887.1:p.Pro289Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.758C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.599C>T
  hgvsp: ENSP00000375847.1:p.Pro200Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3275C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3275C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro200Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-241468548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468548
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468548
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.425G>A
  hgvsp: ENSP00000404095.1:p.Glu143Lys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.592G>A
  hgvsp: ENSP00000407015.1:p.Glu198Lys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.859G>A
  hgvsp: ENSP00000385887.1:p.Glu287Lys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.751G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.592G>A
  hgvsp: ENSP00000272972.3:p.Glu198Lys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3282G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.592G>A
  hgvsp: ENSP00000375847.1:p.Glu198Lys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2686G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu198Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

2-241468550-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468550
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468550
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.590A>G
  hgvsp: ENSP00000407015.1:p.Asn197Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2688A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.423A>G
  hgvsp: ENSP00000404095.1:p.Asn142Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.590A>G
  hgvsp: ENSP00000272972.3:p.Asn197Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.590A>G
  hgvsp: ENSP00000375847.1:p.Asn197Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.749A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.857A>G
  hgvsp: ENSP00000385887.1:p.Asn286Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3284A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3284A>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn197Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-241468559-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468559
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.581T>C
  hgvsp: ENSP00000272972.3:p.Ile194Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.848T>C
  hgvsp: ENSP00000385887.1:p.Ile283Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.581T>C
  hgvsp: ENSP00000375847.1:p.Ile194Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.740T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.414T>C
  hgvsp: ENSP00000404095.1:p.Ile139Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.581T>C
  hgvsp: ENSP00000407015.1:p.Ile194Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2697T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3293T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3293T>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile194Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-241468562-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468562
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.578G>T
  hgvsp: ENSP00000272972.3:p.Arg193Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.737G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.845G>T
  hgvsp: ENSP00000385887.1:p.Arg282Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.578G>T
  hgvsp: ENSP00000407015.1:p.Arg193Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.578G>T
  hgvsp: ENSP00000375847.1:p.Arg193Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.411G>T
  hgvsp: ENSP00000404095.1:p.Arg138Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3296G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2700G>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3296G>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-241468562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468562
    reference: chr 2
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.845G>A
  hgvsp: ENSP00000385887.1:p.Arg282His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.578G>A
  hgvsp: ENSP00000375847.1:p.Arg193His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.411G>A
  hgvsp: ENSP00000404095.1:p.Arg138His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2700G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.578G>A
  hgvsp: ENSP00000407015.1:p.Arg193His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.578G>A
  hgvsp: ENSP00000272972.3:p.Arg193His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3296G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.737G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3296G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-241468563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468563
    reference: chr 2
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.410C>T
  hgvsp: ENSP00000404095.1:p.Arg138Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.736C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.844C>T
  hgvsp: ENSP00000385887.1:p.Arg282Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2701C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.577C>T
  hgvsp: ENSP00000375847.1:p.Arg193Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.577C>T
  hgvsp: ENSP00000272972.3:p.Arg193Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.577C>T
  hgvsp: ENSP00000407015.1:p.Arg193Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3297C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3297C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-241468566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468566
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.574G>A
  hgvsp: ENSP00000272972.3:p.Ala192Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.574G>A
  hgvsp: ENSP00000375847.1:p.Ala192Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.841G>A
  hgvsp: ENSP00000385887.1:p.Ala281Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.733G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.407G>A
  hgvsp: ENSP00000404095.1:p.Ala137Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.574G>A
  hgvsp: ENSP00000407015.1:p.Ala192Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2704G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3300G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3300G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala192Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

2-241468567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468567
    reference: chr 2
allele count: 7
allele frequency: 5.765682656826568e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2705C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.573C>T
  hgvsp: ENST00000418708.1:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.573C>T
  hgvsp: ENST00000272972.3:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.732C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.406C>T
  hgvsp: ENST00000443318.1:c.406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.573C>T
  hgvsp: ENST00000391987.1:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.840C>T
  hgvsp: ENST00000401804.1:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3301C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3301C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp191Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-241468571-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468571
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468571
    reference: chr 2
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.569T>C
  hgvsp: ENSP00000407015.1:p.Leu190Pro
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.569T>C
  hgvsp: ENSP00000272972.3:p.Leu190Pro
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.402T>C
  hgvsp: ENSP00000404095.1:p.Leu135Pro
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.836T>C
  hgvsp: ENSP00000385887.1:p.Leu279Pro
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.728T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.569T>C
  hgvsp: ENSP00000375847.1:p.Leu190Pro
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2709T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3305T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3305T>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu190Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-241468579-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468579
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468579
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.561C>G
  hgvsp: ENST00000418708.1:c.561C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2717C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.828C>G
  hgvsp: ENST00000401804.1:c.828C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.720C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.394C>G
  hgvsp: ENST00000443318.1:c.394C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.561C>G
  hgvsp: ENST00000391987.1:c.561C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3313C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.561C>G
  hgvsp: ENST00000272972.3:c.561C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg187Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-241468580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468580
    reference: chr 2
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.560G>A
  hgvsp: ENSP00000272972.3:p.Arg187His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.827G>A
  hgvsp: ENSP00000385887.1:p.Arg276His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.560G>A
  hgvsp: ENSP00000407015.1:p.Arg187His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.719G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.393G>A
  hgvsp: ENSP00000404095.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.560G>A
  hgvsp: ENSP00000375847.1:p.Arg187His
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2718G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3314G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3314G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg187His
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-241468581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468581
    reference: chr 2
allele count: 8
allele frequency: 6.589351607801793e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.718C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.392C>T
  hgvsp: ENSP00000404095.1:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.559C>T
  hgvsp: ENSP00000272972.3:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.826C>T
  hgvsp: ENSP00000385887.1:p.Arg276Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.559C>T
  hgvsp: ENSP00000375847.1:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2719C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3315C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.559C>T
  hgvsp: ENSP00000407015.1:p.Arg187Cys
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg187Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-241468583-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468583
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.557T>C
  hgvsp: ENSP00000375847.1:p.Phe186Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.557T>C
  hgvsp: ENSP00000272972.3:p.Phe186Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.390T>C
  hgvsp: ENSP00000404095.1:p.Phe131Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.557T>C
  hgvsp: ENSP00000407015.1:p.Phe186Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.716T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.824T>C
  hgvsp: ENSP00000385887.1:p.Phe275Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3317T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2721T>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe186Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-241468587-A-ACAAACCACCTTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468587
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468600
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: ACAAACCACCTTCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsp: ENSP00000404095.1:p.Ser130ArgfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsp: ENSP00000407015.1:p.Ser185ArgfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsp: ENSP00000272972.3:p.Ser185ArgfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsp: ENSP00000375847.1:p.Ser185ArgfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsp: ENSP00000385887.1:p.Ser274ArgfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser185ArgfsTer18
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-241468588-G-GATCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468592
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: GATCA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.818_819insTGAT
  hgvsp: ENSP00000385887.1:p.Ser274AspfsTer15
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3323_481-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3323_340-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.551_552insTGAT
  hgvsp: ENSP00000375847.1:p.Ser185AspfsTer15
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3323_340-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3323_214-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.710_711insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.551_552insTGAT
  hgvsp: ENSP00000407015.1:p.Ser185AspfsTer15
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.551_552insTGAT
  hgvsp: ENSP00000272972.3:p.Ser185AspfsTer15
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.384_385insTGAT
  hgvsp: ENSP00000404095.1:p.Ser130AspfsTer15
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3323_2648-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3323_362-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3323_481-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3323_718-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2727_374-2726insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3323_481-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3323_214-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3323_481-3322insTGAT
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser185AspfsTer15
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

2-241468589-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468589
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.551G>A
  hgvsp: ENSP00000375847.1:p.Ser184Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.710G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.551G>A
  hgvsp: ENSP00000407015.1:p.Ser184Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.818G>A
  hgvsp: ENSP00000385887.1:p.Ser273Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2727G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.551G>A
  hgvsp: ENSP00000272972.3:p.Ser184Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.384G>A
  hgvsp: ENSP00000404095.1:p.Ser129Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3323G>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3323G>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser184Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD

2-241468590-T-TCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468590
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468592
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: TCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3325_2648-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2729_374-2728insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3325_481-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.708_709insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3325_362-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.549_550insGG
  hgvsp: ENSP00000407015.1:p.Ser184GlyfsTer29
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.549_550insGG
  hgvsp: ENSP00000272972.3:p.Ser184GlyfsTer29
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.382_383insGG
  hgvsp: ENSP00000404095.1:p.Ser129GlyfsTer29
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.549_550insGG
  hgvsp: ENSP00000375847.1:p.Ser184GlyfsTer29
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3325_214-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.816_817insGG
  hgvsp: ENSP00000385887.1:p.Ser273GlyfsTer29
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3325_718-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3325_340-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3325_481-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3325_214-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3325_481-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3325_340-3324insGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3325_481-3324insGG
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser184GlyfsTer29
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-241468593-T-TCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468593
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468596
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: TCCC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.813_814insGGG
  hgvsp: ENSP00000385887.1:p.Met271_Thr272insGly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.379_380insGGG
  hgvsp: ENSP00000404095.1:p.Met127_Thr128insGly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.705_706insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.546_547insGGG
  hgvsp: ENSP00000407015.1:p.Met182_Thr183insGly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3328_214-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3328_362-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.546_547insGGG
  hgvsp: ENSP00000375847.1:p.Met182_Thr183insGly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3328_340-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2732_374-2731insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.546_547insGGG
  hgvsp: ENSP00000272972.3:p.Met182_Thr183insGly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3328_481-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3328_214-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3328_481-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3328_718-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3328_481-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3328_2648-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3328_481-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3328_340-3327insGGG
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met182_Thr183insGly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

2-241468595-A-AAGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468599
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: AAGAG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.811_812insCTCT
  hgvsp: ENSP00000385887.1:p.Met271ThrfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3330_481-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3330_481-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.544_545insCTCT
  hgvsp: ENSP00000272972.3:p.Met182ThrfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.544_545insCTCT
  hgvsp: ENSP00000375847.1:p.Met182ThrfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3330_718-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.544_545insCTCT
  hgvsp: ENSP00000407015.1:p.Met182ThrfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.703_704insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2734_374-2733insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3330_214-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3330_2648-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3330_481-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3330_340-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3330_362-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3330_340-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3330_214-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.377_378insCTCT
  hgvsp: ENSP00000404095.1:p.Met127ThrfsTer18
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3330_481-3329insCTCT
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met182ThrfsTer18
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-241468596-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468596
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468596
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.544A>G
  hgvsp: ENSP00000375847.1:p.Met182Val
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.811A>G
  hgvsp: ENSP00000385887.1:p.Met271Val
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.544A>G
  hgvsp: ENSP00000407015.1:p.Met182Val
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.544A>G
  hgvsp: ENSP00000272972.3:p.Met182Val
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.377A>G
  hgvsp: ENSP00000404095.1:p.Met127Val
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2734A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.703A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3330A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3330A>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met182Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-241468602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468602
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468602
    reference: chr 2
allele count: 21
allele frequency: 1.72970479704797e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.538C>T
  hgvsp: ENST00000391987.1:c.538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.371C>T
  hgvsp: ENST00000443318.1:c.371C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.805C>T
  hgvsp: ENST00000401804.1:c.805C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.697C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2740C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.538C>T
  hgvsp: ENST00000272972.3:c.538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.538C>T
  hgvsp: ENST00000418708.1:c.538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3336C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3336C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu180Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-241468603-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468603
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.537C>G
  hgvsp: ENSP00000375847.1:p.His179Gln
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.537C>G
  hgvsp: ENSP00000407015.1:p.His179Gln
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.804C>G
  hgvsp: ENSP00000385887.1:p.His268Gln
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.696C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.537C>G
  hgvsp: ENSP00000272972.3:p.His179Gln
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.370C>G
  hgvsp: ENSP00000404095.1:p.His124Gln
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2741C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3337C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3337C>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His179Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-241468604-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468604
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468604
    reference: chr 2
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.803A>G
  hgvsp: ENSP00000385887.1:p.His268Arg
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2742A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.536A>G
  hgvsp: ENSP00000272972.3:p.His179Arg
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.536A>G
  hgvsp: ENSP00000375847.1:p.His179Arg
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.369A>G
  hgvsp: ENSP00000404095.1:p.His124Arg
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.695A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3338A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.536A>G
  hgvsp: ENSP00000407015.1:p.His179Arg
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His179Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

2-241468605-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468605
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468605
    reference: chr 2
allele count: 354
allele frequency: 2.915836120125859e-3
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.535C>A
  hgvsp: ENSP00000407015.1:p.His179Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.802C>A
  hgvsp: ENSP00000385887.1:p.His268Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.535C>A
  hgvsp: ENSP00000375847.1:p.His179Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.368C>A
  hgvsp: ENSP00000404095.1:p.His124Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.535C>A
  hgvsp: ENSP00000272972.3:p.His179Asn
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2743C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.694C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3339C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3339C>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.His179Asn
num of homozygotes: 2
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-241468611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468611
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468611
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.796A>G
  hgvsp: ENSP00000385887.1:p.Ser266Gly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2749A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.529A>G
  hgvsp: ENSP00000375847.1:p.Ser177Gly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.529A>G
  hgvsp: ENSP00000272972.3:p.Ser177Gly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.362A>G
  hgvsp: ENSP00000404095.1:p.Ser122Gly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.688A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3345A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.529A>G
  hgvsp: ENSP00000407015.1:p.Ser177Gly
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3345A>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser177Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-241468615-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468615
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.358C>G
  hgvsp: ENST00000443318.1:c.358C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.684C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.525C>G
  hgvsp: ENST00000272972.3:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.792C>G
  hgvsp: ENST00000401804.1:c.792C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.525C>G
  hgvsp: ENST00000418708.1:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.525C>G
  hgvsp: ENST00000391987.1:c.525C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2753C>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr175Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-241468616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468616
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.357C>G
  hgvsp: ENSP00000404095.1:p.Thr120Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.524C>G
  hgvsp: ENSP00000272972.3:p.Thr175Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.524C>G
  hgvsp: ENSP00000375847.1:p.Thr175Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.791C>G
  hgvsp: ENSP00000385887.1:p.Thr264Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2754C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.524C>G
  hgvsp: ENSP00000407015.1:p.Thr175Ser
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3350C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.683C>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr175Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

2-241468619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468619
    reference: chr 2
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.788C>T
  hgvsp: ENSP00000385887.1:p.Ser263Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.354C>T
  hgvsp: ENSP00000404095.1:p.Ser119Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.521C>T
  hgvsp: ENSP00000272972.3:p.Ser174Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.521C>T
  hgvsp: ENSP00000375847.1:p.Ser174Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.680C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2757C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.521C>T
  hgvsp: ENSP00000407015.1:p.Ser174Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3353C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3353C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser174Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-241468624-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468624
    reference: chr 2
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.516C>A
  hgvsp: ENST00000418708.1:c.516C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.675C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.349C>A
  hgvsp: ENST00000443318.1:c.349C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.516C>A
  hgvsp: ENST00000272972.3:c.516C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.516C>A
  hgvsp: ENST00000391987.1:c.516C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.783C>A
  hgvsp: ENST00000401804.1:c.783C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3358C>A
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2762C>A
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val172Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

2-241468626-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468626
    reference: chr 2
allele count: 167
allele frequency: 1.375572468781918e-3
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.781G>C
  hgvsp: ENSP00000385887.1:p.Val261Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.514G>C
  hgvsp: ENSP00000375847.1:p.Val172Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2764G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.347G>C
  hgvsp: ENSP00000404095.1:p.Val117Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.673G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.514G>C
  hgvsp: ENSP00000272972.3:p.Val172Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.514G>C
  hgvsp: ENSP00000407015.1:p.Val172Leu
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3360G>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3360G>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Val172Leu
num of homozygotes: 3
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-241468627-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468627
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468627
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.513T>C
  hgvsp: ENST00000391987.1:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.513T>C
  hgvsp: ENST00000272972.3:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.780T>C
  hgvsp: ENST00000401804.1:c.780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.346T>C
  hgvsp: ENST00000443318.1:c.346T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.513T>C
  hgvsp: ENST00000418708.1:c.513T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3361T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2765T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.672T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3361T>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr171Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-241468628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468628
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468628
    reference: chr 2
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.512A>G
  hgvsp: ENSP00000272972.3:p.Tyr171Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.512A>G
  hgvsp: ENSP00000407015.1:p.Tyr171Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.345A>G
  hgvsp: ENSP00000404095.1:p.Tyr116Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.671A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.512A>G
  hgvsp: ENSP00000375847.1:p.Tyr171Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.779A>G
  hgvsp: ENSP00000385887.1:p.Tyr260Cys
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2766A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3362A>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3362A>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr171Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-241468631-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468631
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468631
    reference: chr 2
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.776T>C
  hgvsp: ENSP00000385887.1:p.Met259Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2769T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.342T>C
  hgvsp: ENSP00000404095.1:p.Met115Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.509T>C
  hgvsp: ENSP00000272972.3:p.Met170Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.509T>C
  hgvsp: ENSP00000375847.1:p.Met170Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.668T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.509T>C
  hgvsp: ENSP00000407015.1:p.Met170Thr
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3365T>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3365T>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met170Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-241468634-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241468634
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241468634
    reference: chr 2
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362417
  ensembl transcript: ENST00000373320
  gene symbol: ANKMY1
  hgvsc: ENST00000373320.4:c.214-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.718-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.362-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.665A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385887
  ensembl transcript: ENST00000401804
  gene symbol: ANKMY1
  hgvsc: ENST00000401804.1:c.773A>C
  hgvsp: ENSP00000385887.1:p.Glu258Ala
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.214-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.506A>C
  hgvsp: ENSP00000407015.1:p.Glu169Ala
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000459901
  gene symbol: ANKMY1
  hgvsc: ENST00000459901.1:n.2648-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000384555
  ensembl transcript: ENST00000406958
  gene symbol: ANKMY1
  hgvsc: ENST00000406958.1:c.481-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000272972
  ensembl transcript: ENST00000272972
  gene symbol: ANKMY1
  hgvsc: ENST00000272972.3:c.506A>C
  hgvsp: ENSP00000272972.3:p.Glu169Ala
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.339A>C
  hgvsp: ENSP00000404095.1:p.Glu114Ala
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000375847
  ensembl transcript: ENST00000391987
  gene symbol: ANKMY1
  hgvsc: ENST00000391987.1:c.506A>C
  hgvsp: ENSP00000375847.1:p.Glu169Ala
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000355097
  ensembl transcript: ENST00000361678
  gene symbol: ANKMY1
  hgvsc: ENST00000361678.4:c.481-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385635
  ensembl transcript: ENST00000405523
  gene symbol: ANKMY1
  hgvsc: ENST00000405523.3:c.481-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000362415
  ensembl transcript: ENST00000373318
  gene symbol: ANKMY1
  hgvsc: ENST00000373318.2:c.481-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.340-3368A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.374-2772A>C
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.340-3368A>C
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu169Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum

GenotypeDepth
all individuals: 2118
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9894
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11952
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2495
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 549
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 8.25e1
variant carriers: 0

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

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

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

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.853070175438596e-5
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.665036e6

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

European (Non-Finnish)
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allele frequency: 1.521236460995497e-5
allele num: 65736
num of homozygotes: 0

South Asian
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European (Finnish)
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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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Other
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num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

MQ
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

QD
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BaseQRankSum
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SIO_000300: -2.204e0

InbreedingCoeff
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SIO_000300: 3.4e-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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
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 count: 0
allele frequency: 0.0e0
allele num: 14646
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.039236543780202e-5
allele num: 65806
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
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SIO_000300: -2.93e-1

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
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SIO_000300: 4.9e-3

DP
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SIO_000300: 1.667901e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.477e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

GenotypeDepth
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variant carriers: 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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4
allele frequency: 6.074411541381929e-5
allele num: 65850
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: 8618
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

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

Latino
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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: 8
allele frequency: 5.431830526887561e-4
allele num: 14728
num of homozygotes: 0

FS
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SIO_000300: 1.658e0

BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 (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
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65808
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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MQRankSum
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SIO_000300: -2.44e-1

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

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 65894
num of homozygotes: 0

South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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Other
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
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

DP
type: SiteQuality
SIO_000300: 1.682054e6

ReadPosRankSum
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SIO_000300: -1.099e0

MQ
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SIO_000300: 5.89e1

MQRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.388e0

ClippingRankSum
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SIO_000300: 1.86e0

InbreedingCoeff
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SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 1.678e1

GenotypeDepth
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variant carriers: 12

GenotypeDepth
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variant carriers: 49

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

European (Finnish)
type: Population
allele count: 58
allele frequency: 8.771929824561403e-3
allele num: 6612
num of homozygotes: 2

African
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allele count: 14
allele frequency: 1.351351351351351e-3
allele num: 10360
num of homozygotes: 0

Latino
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allele count: 33
allele frequency: 2.853683846419924e-3
allele num: 11564
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.370786516853933e-3
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 729
allele frequency: 1.103876438522108e-2
allele num: 66040
num of homozygotes: 2

South Asian
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allele count: 38
allele frequency: 2.509907529722589e-3
allele num: 15140
num of homozygotes: 0

MQRankSum
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SIO_000300: 1.72e-1

VQSLOD
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SIO_000300: 6.36e0

QD
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SIO_000300: 1.489e1

InbreedingCoeff
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SIO_000300: 5.0e-4

BaseQRankSum
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SIO_000300: -4.323e0

ReadPosRankSum
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SIO_000300: 6.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
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SIO_000300: 1.713336e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39300
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779794e-5
allele num: 66120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15270
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 1.67609e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.802e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 2.782e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15398
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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DP
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SIO_000300: 1.680201e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Other
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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
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

African
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allele count: 0
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South Asian
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66280
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Other
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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DP
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GenotypeDepth
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variant carriers: 1

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

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

European (Finnish)
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

East Asian
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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East Asian
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Latino
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Other
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MQ
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeQuality
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MQ
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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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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South Asian
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African
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East Asian
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Other
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European (Finnish)
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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Latino
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South Asian
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East Asian
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African
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European (Finnish)
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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QD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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African
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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DP
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FS
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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African
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European (Non-Finnish)
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South Asian
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FS
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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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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South Asian
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Latino
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African
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Other
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European (Finnish)
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East Asian
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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MQ
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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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European (Non-Finnish)
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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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DP
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ReadPosRankSum
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MQRankSum
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QD
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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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InbreedingCoeff
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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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South Asian
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East Asian
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European (Finnish)
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African
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Other
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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African
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European (Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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South Asian
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European (Non-Finnish)
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African
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DP
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MQRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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European (Non-Finnish)
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Latino
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European (Finnish)
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African
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Other
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South Asian
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East Asian
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DP
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FS
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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DP
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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African
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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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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Latino
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BaseQRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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Latino
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East Asian
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African
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FS
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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European (Finnish)
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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DP
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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VQSLOD
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ClippingRankSum
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MQ
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.703995e6

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

African
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 5.993586862057598e-5
allele num: 66738
num of homozygotes: 0

MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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DP
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SIO_000300: 1.704825e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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African
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South Asian
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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South Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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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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Latino
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Other
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Other
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InbreedingCoeff
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DP
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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VQSLOD
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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FS
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African
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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QD
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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African
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Other
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -7.000000000000001e-2

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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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Latino
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African
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European (Finnish)
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East Asian
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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Latino
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MQRankSum
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QD
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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QD
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DP
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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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European (Finnish)
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East Asian
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African
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South Asian
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Other
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Latino
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FS
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MQ
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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Other
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European (Finnish)
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East Asian
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ClippingRankSum
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FS
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QD
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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Latino
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South Asian
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BaseQRankSum
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FS
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 2
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allele num: 66738
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Latino
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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 (Finnish)
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9258
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

FS
type: SiteQuality
SIO_000300: 6.404e0

VQSLOD
type: SiteQuality
SIO_000300: 9.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.691271e6

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2057
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15843
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29741
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 33
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2333
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e0