17-2279047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279047
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279047
    reference: chr 17
allele count: 1
allele frequency: 8.592984687301287e-6
allele num: 116374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-61T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2227A>G
  hgvsp: ENSP00000459126.1:p.Ser743Gly
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2227A>G
  hgvsp: ENSP00000415107.2:p.Ser743Gly
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2362A>G
  hgvsp: ENSP00000268989.3:p.Ser788Gly
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6120
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15228
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser788Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

17-2279048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279048
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279048
    reference: chr 17
allele count: 19
allele frequency: 1.633734028100225e-4
allele num: 116298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2228G>A
  hgvsp: ENSP00000415107.2:p.Ser743Asn
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2363G>A
  hgvsp: ENSP00000268989.3:p.Ser788Asn
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2228G>A
  hgvsp: ENSP00000459126.1:p.Ser743Asn
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-62C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16352
  bin: 9.75e1
  variant carriers: 19
hgvs: p.Ser788Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-2279050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279050
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279050
    reference: chr 17
allele count: 1
allele frequency: 8.608518990392892e-6
allele num: 116164
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2365G>A
  hgvsp: ENSP00000268989.3:p.Gly789Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2230G>A
  hgvsp: ENSP00000415107.2:p.Gly744Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2230G>A
  hgvsp: ENSP00000459126.1:p.Gly744Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-64C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15125
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly789Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-2279051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279051
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279051
    reference: chr 17
allele count: 1
allele frequency: 8.617123948710878e-6
allele num: 116048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2231G>A
  hgvsp: ENSP00000459126.1:p.Gly744Glu
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2231G>A
  hgvsp: ENSP00000415107.2:p.Gly744Glu
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-65C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2366G>A
  hgvsp: ENSP00000268989.3:p.Gly789Glu
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly789Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-2279055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279055
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279055
    reference: chr 17
allele count: 1
allele frequency: 8.668515950069348e-6
allele num: 115360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2235C>T
  hgvsp: ENST00000574563.1:c.2235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2235C>T
  hgvsp: ENST00000426855.2:c.2235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2370C>T
  hgvsp: ENST00000268989.3:c.2370C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-69G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14630
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro790Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

17-2279056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279056
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279056
    reference: chr 17
allele count: 1
allele frequency: 8.674682072902028e-6
allele num: 115278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2236G>A
  hgvsp: ENSP00000415107.2:p.Gly746Ser
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2236G>A
  hgvsp: ENSP00000459126.1:p.Gly746Ser
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2371G>A
  hgvsp: ENSP00000268989.3:p.Gly791Ser
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-70C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6062
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly791Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

17-2279067-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279065
    reference: chr 17
allele count: 1
allele frequency: 8.76485643165165e-6
allele num: 114092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2251_2252delAC
  hgvsp: ENSP00000459126.1:p.Thr751PhefsTer54
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2386_2387delAC
  hgvsp: ENSP00000268989.3:p.Thr796PhefsTer54
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-83_402-82delTG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2251_2252delAC
  hgvsp: ENSP00000415107.2:p.Thr751PhefsTer54
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 200
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 74
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genotype quality: GenotypeQuality
  all individuals: 6048
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genotype quality: GenotypeQuality
  all individuals: 659
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr796PhefsTer54
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: TCA
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-2279075-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279075
    reference: chr 17
allele count: 9
allele frequency: 7.955168207612212e-5
allele num: 113134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2255T>G
  hgvsp: ENSP00000415107.2:p.Leu752Trp
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2255T>G
  hgvsp: ENSP00000459126.1:p.Leu752Trp
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2390T>G
  hgvsp: ENSP00000268989.3:p.Leu797Trp
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-89A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16334
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu797Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

17-2279078-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279078
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279078
    reference: chr 17
allele count: 2
allele frequency: 1.777935816517024e-5
allele num: 112490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2258G>C
  hgvsp: ENSP00000459126.1:p.Arg753Thr
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2258G>C
  hgvsp: ENSP00000415107.2:p.Arg753Thr
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-92C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2393G>C
  hgvsp: ENSP00000268989.3:p.Arg798Thr
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16328
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg798Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

17-2279079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279079
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279079
    reference: chr 17
allele count: 3
allele frequency: 2.669751713090682e-5
allele num: 112370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2394G>A
  hgvsp: ENST00000268989.3:c.2394G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2259G>A
  hgvsp: ENST00000574563.1:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2259G>A
  hgvsp: ENST00000426855.2:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-93C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16328
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg798Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-2279080-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279080
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279080
    reference: chr 17
allele count: 6
allele frequency: 5.34045393858478e-5
allele num: 112350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2260G>C
  hgvsp: ENSP00000415107.2:p.Glu754Gln
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-94C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2395G>C
  hgvsp: ENSP00000268989.3:p.Glu799Gln
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2260G>C
  hgvsp: ENSP00000459126.1:p.Glu754Gln
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu799Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

17-2279082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279082
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279082
    reference: chr 17
allele count: 2
allele frequency: 1.782690079329709e-5
allele num: 112190
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-96C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2262G>A
  hgvsp: ENST00000574563.1:c.2262G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2397G>A
  hgvsp: ENST00000268989.3:c.2397G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2262G>A
  hgvsp: ENST00000426855.2:c.2262G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16322
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu799Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-2279083-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279083
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279083
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 111766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2263C>G
  hgvsp: ENSP00000459126.1:p.Pro755Ala
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-97G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2398C>G
  hgvsp: ENSP00000268989.3:p.Pro800Ala
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2263C>G
  hgvsp: ENSP00000415107.2:p.Pro755Ala
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16321
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Pro800Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

17-2279094-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279094
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279094
    reference: chr 17
allele count: 4
allele frequency: 3.609131101687269e-5
allele num: 110830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2274C>T
  hgvsp: ENST00000426855.2:c.2274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2274C>T
  hgvsp: ENST00000574563.1:c.2274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-108G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2409C>T
  hgvsp: ENST00000268989.3:c.2409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11639
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16323
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13673
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro803Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-2279098-CAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279098
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279095
    reference: chr 17
allele count: 124
allele frequency: 1.123758428188211e-3
allele num: 110344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2281_2283delGAG
  hgvsp: ENSP00000459126.1:p.Glu761del
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2281_2283delGAG
  hgvsp: ENSP00000415107.2:p.Glu761del
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-115_402-113delCCT
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2416_2418delGAG
  hgvsp: ENSP00000268989.3:p.Glu806del
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16379
  bin: 9.75e1
  variant carriers: 125
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 8.25e1
  variant carriers: 2
hgvs: p.Glu806del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: CAGG
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

17-2279100-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279100
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279100
    reference: chr 17
allele count: 1
allele frequency: 9.084797499863727e-6
allele num: 110074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2280G>C
  hgvsp: ENSP00000459126.1:p.Gln760His
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-114C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2415G>C
  hgvsp: ENSP00000268989.3:p.Gln805His
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2280G>C
  hgvsp: ENSP00000415107.2:p.Gln760His
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln805His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-2279106-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279106
    reference: chr 17
allele count: 1
allele frequency: 9.123255177447314e-6
allele num: 109610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2286G>C
  hgvsp: ENSP00000459126.1:p.Lys762Asn
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2421G>C
  hgvsp: ENSP00000268989.3:p.Lys807Asn
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-120C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2286G>C
  hgvsp: ENSP00000415107.2:p.Lys762Asn
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys807Asn
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

17-2279108-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279108
    reference: chr 17
allele count: 2
allele frequency: 1.825650387950707e-5
allele num: 109550
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2423C>G
  hgvsp: ENSP00000268989.3:p.Pro808Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-122G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2288C>G
  hgvsp: ENSP00000459126.1:p.Pro763Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2288C>G
  hgvsp: ENSP00000415107.2:p.Pro763Arg
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16290
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro808Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-2279108-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279108
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279108
    reference: chr 17
allele count: 4
allele frequency: 3.651300775901415e-5
allele num: 109550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2288C>T
  hgvsp: ENSP00000415107.2:p.Pro763Leu
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2423C>T
  hgvsp: ENSP00000268989.3:p.Pro808Leu
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-122G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2288C>T
  hgvsp: ENSP00000459126.1:p.Pro763Leu
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16290
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro808Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-2279113-GCCGGAGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279113
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279105
    reference: chr 17
allele count: 1
allele frequency: 9.154994049253868e-6
allele num: 109230
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsp: ENSP00000268989.3:p.Glu812GlyfsTer36
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsp: ENSP00000459126.1:p.Glu767GlyfsTer36
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsp: ENSP00000415107.2:p.Glu767GlyfsTer36
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu812GlyfsTer36
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: GCCGGAGAA
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-2279115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279115
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279115
    reference: chr 17
allele count: 2
allele frequency: 1.833247781770184e-5
allele num: 109096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2430C>T
  hgvsp: ENST00000268989.3:c.2430C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2295C>T
  hgvsp: ENST00000574563.1:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2295C>T
  hgvsp: ENST00000426855.2:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-129G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16288
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala810Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

17-2279116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279116
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279116
    reference: chr 17
allele count: 8
allele frequency: 7.342683016374182e-5
allele num: 108952
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-130C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2296G>A
  hgvsp: ENSP00000459126.1:p.Gly766Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2296G>A
  hgvsp: ENSP00000415107.2:p.Gly766Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2431G>A
  hgvsp: ENSP00000268989.3:p.Gly811Arg
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16287
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly811Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/17-2279118-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279118
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279118
    reference: chr 17
allele count: 1
allele frequency: 9.177006093532046e-6
allele num: 108968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2298A>C
  hgvsp: ENST00000426855.2:c.2298A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-132T>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2298A>C
  hgvsp: ENST00000574563.1:c.2298A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2433A>C
  hgvsp: ENST00000268989.3:c.2433A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16283
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly811Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-2279119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279119
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279119
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 108912
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2434G>A
  hgvsp: ENSP00000268989.3:p.Glu812Lys
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-133C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2299G>A
  hgvsp: ENSP00000459126.1:p.Glu767Lys
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2299G>A
  hgvsp: ENSP00000415107.2:p.Glu767Lys
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16282
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6028
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu812Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/17-2279122-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279122
    reference: chr 17
allele count: 1
allele frequency: 9.197432076964111e-6
allele num: 108726
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2437C>A
  hgvsp: ENSP00000268989.3:p.Leu813Met
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2302C>A
  hgvsp: ENSP00000415107.2:p.Leu768Met
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2302C>A
  hgvsp: ENSP00000459126.1:p.Leu768Met
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-136G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16282
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu813Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

17-2279122-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279122
    reference: chr 17
allele count: 1
allele frequency: 9.197432076964111e-6
allele num: 108726
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-136G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2437C>G
  hgvsp: ENSP00000268989.3:p.Leu813Val
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2302C>G
  hgvsp: ENSP00000415107.2:p.Leu768Val
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2302C>G
  hgvsp: ENSP00000459126.1:p.Leu768Val
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16282
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6028
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu813Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

17-2279123-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279123
    reference: chr 17
allele count: 1
allele frequency: 9.199632014719412e-6
allele num: 108700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2303T>C
  hgvsp: ENSP00000415107.2:p.Leu768Pro
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2303T>C
  hgvsp: ENSP00000459126.1:p.Leu768Pro
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-137A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2438T>C
  hgvsp: ENSP00000268989.3:p.Leu813Pro
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6025
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu813Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-2279130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279130
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279130
    reference: chr 17
allele count: 1
allele frequency: 9.232928315544558e-6
allele num: 108308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2310C>T
  hgvsp: ENST00000574563.1:c.2310C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-144G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2445C>T
  hgvsp: ENST00000268989.3:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2310C>T
  hgvsp: ENST00000426855.2:c.2310C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11772
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11679
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala815Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-2279131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279131
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279131
    reference: chr 17
allele count: 2
allele frequency: 1.846585663108912e-5
allele num: 108308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-145C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2446G>A
  hgvsp: ENSP00000268989.3:p.Gly816Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2311G>A
  hgvsp: ENSP00000415107.2:p.Gly771Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2311G>A
  hgvsp: ENSP00000459126.1:p.Gly771Arg
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly816Arg
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

17-2279134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279134
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279134
    reference: chr 17
allele count: 1
allele frequency: 9.240777703851557e-6
allele num: 108216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2314G>A
  hgvsp: ENSP00000459126.1:p.Glu772Lys
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-148C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2449G>A
  hgvsp: ENSP00000268989.3:p.Glu817Lys
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2314G>A
  hgvsp: ENSP00000415107.2:p.Glu772Lys
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu817Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-2279136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279136
    reference: chr 17
allele count: 3
allele frequency: 2.77551624602176e-5
allele num: 108088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-150C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2316G>A
  hgvsp: ENST00000426855.2:c.2316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2451G>A
  hgvsp: ENST00000268989.3:c.2451G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2316G>A
  hgvsp: ENST00000574563.1:c.2316G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16278
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu817Glu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-2279143-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279143
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279143
    reference: chr 17
allele count: 1
allele frequency: 9.268012382064542e-6
allele num: 107898
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2458G>T
  hgvsp: ENSP00000268989.3:p.Ala820Ser
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2323G>T
  hgvsp: ENSP00000415107.2:p.Ala775Ser
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2323G>T
  hgvsp: ENSP00000459126.1:p.Ala775Ser
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-157C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala820Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

17-2279144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279144
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279144
    reference: chr 17
allele count: 1531
allele frequency: 1.41903790898137e-2
allele num: 107890
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2459C>T
  hgvsp: ENSP00000268989.3:p.Ala820Val
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-158G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2324C>T
  hgvsp: ENSP00000415107.2:p.Ala775Val
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2324C>T
  hgvsp: ENSP00000459126.1:p.Ala775Val
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11486
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 3.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 11604
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 5.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 4.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 589
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16837
  bin: 9.75e1
  variant carriers: 1405
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 5871
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Ala820Val
num of homozygotes: 111
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-2279145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279145
    reference: chr 17
allele count: 4
allele frequency: 3.71126368528484e-5
allele num: 107780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2325G>A
  hgvsp: ENST00000426855.2:c.2325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2460G>A
  hgvsp: ENST00000268989.3:c.2460G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-159C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2325G>A
  hgvsp: ENST00000574563.1:c.2325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15678
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala820Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

17-2279152-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279152
    reference: chr 17
allele count: 5
allele frequency: 4.647617631202246e-5
allele num: 107582
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-166A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2467T>C
  hgvsp: ENSP00000268989.3:p.Cys823Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2332T>C
  hgvsp: ENSP00000459126.1:p.Cys778Arg
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2332T>C
  hgvsp: ENSP00000415107.2:p.Cys778Arg
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11886
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15675
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13275
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys823Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-2279153-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279153
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279153
    reference: chr 17
allele count: 1
allele frequency: 9.296617890411468e-6
allele num: 107566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-167C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2333G>A
  hgvsp: ENSP00000459126.1:p.Cys778Tyr
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2468G>A
  hgvsp: ENSP00000268989.3:p.Cys823Tyr
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2333G>A
  hgvsp: ENSP00000415107.2:p.Cys778Tyr
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15671
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys823Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-2279154-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279154
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279154
    reference: chr 17
allele count: 5
allele frequency: 4.650557136744982e-5
allele num: 107514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2334T>C
  hgvsp: ENST00000426855.2:c.2334T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-168A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2334T>C
  hgvsp: ENST00000574563.1:c.2334T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2469T>C
  hgvsp: ENST00000268989.3:c.2469T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11754
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys823Cys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-2279155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279155
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279155
    reference: chr 17
allele count: 108
allele frequency: 1.004501655567543e-3
allele num: 107516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2335G>A
  hgvsp: ENSP00000459126.1:p.Ala779Thr
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2335G>A
  hgvsp: ENSP00000415107.2:p.Ala779Thr
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-169C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2470G>A
  hgvsp: ENSP00000268989.3:p.Ala824Thr
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15683
  bin: 9.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 6027
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala824Thr
num of homozygotes: 3
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-2279157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279157
    reference: chr 17
allele count: 8
allele frequency: 7.444076376223621e-5
allele num: 107468
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-171C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2472G>A
  hgvsp: ENST00000268989.3:c.2472G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2337G>A
  hgvsp: ENST00000426855.2:c.2337G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2337G>A
  hgvsp: ENST00000574563.1:c.2337G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15607
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala824Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

17-2279157-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279157
    reference: chr 17
allele count: 1
allele frequency: 9.305095470279526e-6
allele num: 107468
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2472G>T
  hgvsp: ENST00000268989.3:c.2472G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2337G>T
  hgvsp: ENST00000426855.2:c.2337G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2337G>T
  hgvsp: ENST00000574563.1:c.2337G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-171C>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15607
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala824Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

17-2279158-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279158
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279158
    reference: chr 17
allele count: 5
allele frequency: 4.654366726863143e-5
allele num: 107426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2338G>C
  hgvsp: ENSP00000415107.2:p.Ala780Pro
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2338G>C
  hgvsp: ENSP00000459126.1:p.Ala780Pro
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-172C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2473G>C
  hgvsp: ENSP00000268989.3:p.Ala825Pro
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15598
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6040
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Ala825Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

17-2279164-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279164
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279164
    reference: chr 17
allele count: 5
allele frequency: 4.659745391511808e-5
allele num: 107302
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2479T>G
  hgvsp: ENSP00000268989.3:p.Tyr827Asp
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-178A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2344T>G
  hgvsp: ENSP00000415107.2:p.Tyr782Asp
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2344T>G
  hgvsp: ENSP00000459126.1:p.Tyr782Asp
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13143
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr827Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-2279167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279167
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279167
    reference: chr 17
allele count: 3
allele frequency: 2.797307125673685e-5
allele num: 107246
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-181T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2482A>G
  hgvsp: ENSP00000268989.3:p.Thr828Ala
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2347A>G
  hgvsp: ENSP00000459126.1:p.Thr783Ala
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2347A>G
  hgvsp: ENSP00000415107.2:p.Thr783Ala
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3471
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr828Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

17-2279170-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279170
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279170
    reference: chr 17
allele count: 1
allele frequency: 9.332885354836302e-6
allele num: 107148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+1G>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-184C>G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+1G>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+1G>C
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2484+1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

17-2279171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279171
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279171
    reference: chr 17
allele count: 1
allele frequency: 9.336545104849402e-6
allele num: 107106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+2T>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+2T>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-185A>G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+2T>C
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 7.75e1
  variant carriers: 0
hgvs: c.2484+2T>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-2279180-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279180
    reference: chr 17
allele count: 111
allele frequency: 1.03950103950104e-3
allele num: 106782
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+11G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+11G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+11G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-194C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

17-2279181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279181
    reference: chr 17
allele count: 1
allele frequency: 9.364698831285586e-6
allele num: 106784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+12C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+12C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+12C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-195G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15535
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-2279195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279195
    reference: chr 17
allele count: 3
allele frequency: 2.834734952281962e-5
allele num: 105830
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+26C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+26C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+26C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-209G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-2279199-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279199
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279199
    reference: chr 17
allele count: 1
allele frequency: 9.44822373393802e-6
allele num: 105840
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-213C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+30G>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+30G>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+30G>C
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

17-2279201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279201
    reference: chr 17
allele count: 6
allele frequency: 5.672364241415822e-5
allele num: 105776
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+32C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+32C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-215G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+32C>T
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15516
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

17-2279202-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279202
    reference: chr 17
allele count: 2
allele frequency: 1.89523159730119e-5
allele num: 105528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+33G>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+33G>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+33G>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-216C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

17-2279202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279202
    reference: chr 17
allele count: 2
allele frequency: 1.89523159730119e-5
allele num: 105528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+33G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-216C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+33G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+33G>A
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8122
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15506
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4481
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-2279206-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279206
    reference: chr 17
allele count: 5
allele frequency: 4.738617839948444e-5
allele num: 105516
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-220G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+37C>G
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+37C>G
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+37C>G
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15501
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-2279211-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279211
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279211
    reference: chr 17
allele count: 1
allele frequency: 9.493430546062126e-6
allele num: 105336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-225C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+42G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+42G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+42G>A
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-2279213-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279213
    reference: chr 17
allele count: 2
allele frequency: 1.899840413405274e-5
allele num: 105272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+44C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+44C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-227G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+44C>T
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15490
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

17-2279216-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279216
    reference: chr 17
allele count: 1
allele frequency: 9.515109994671538e-6
allele num: 105096
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+47C>G
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+47C>G
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-230G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+47C>G
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15490
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-2279216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279216
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279216
    reference: chr 17
allele count: 5
allele frequency: 4.757554997335769e-5
allele num: 105096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-230G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+47C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+47C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+47C>T
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/17-2279221-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279222
    reference: chr 17
allele count: 5
allele frequency: 4.763628741830377e-5
allele num: 104962
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2484+53dupA
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-236dupT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2349+53dupA
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2349+53dupA
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8556
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3952
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-2279382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279382
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279382
    reference: chr 17
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-396G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350-49C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485-49C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350-49C>T
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5414
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-2279383-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279383
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279383
    reference: chr 17
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350-48T>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485-48T>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-397A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350-48T>C
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 420
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 312
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genotype quality: GenotypeQuality
  all individuals: 21357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

17-2279397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279397
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279397
    reference: chr 17
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-411G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350-34C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350-34C>T
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485-34C>T
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8609
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-2279397-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279397
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279397
    reference: chr 17
allele count: 3
allele frequency: 2.479748718796495e-5
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350-34C>G
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485-34C>G
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-411G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350-34C>G
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

17-2279398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279398
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279398
    reference: chr 17
allele count: 3
allele frequency: 2.478888136041381e-5
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485-33G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350-33G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-412C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350-33G>A
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5354
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-2279399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279399
    reference: chr 17
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-413C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350-32G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485-32G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350-32G>A
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9599
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

17-2279399-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279399
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279399
    reference: chr 17
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-413C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485-32G>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350-32G>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350-32G>C
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

17-2279410-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279410
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279410
    reference: chr 17
allele count: 2
allele frequency: 1.652237129072764e-5
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485-21G>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350-21G>C
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-424C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350-21G>C
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16047
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8598
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9623
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

17-2279414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279414
    reference: chr 17
allele count: 9
allele frequency: 7.43506708082744e-5
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350-17G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350-17G>A
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-428C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485-17G>A
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 9.75e1
  variant carriers: 9
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-2279431-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279431
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279431
    reference: chr 17
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2350A>G
  hgvsp: ENSP00000415107.2:p.Ile784Val
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2350A>G
  hgvsp: ENSP00000459126.1:p.Ile784Val
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-445T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2485A>G
  hgvsp: ENSP00000268989.3:p.Ile829Val
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile829Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

17-2279432-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279432
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279432
    reference: chr 17
allele count: 10
allele frequency: 8.25695648583932e-5
allele num: 121110
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2351T>C
  hgvsp: ENSP00000415107.2:p.Ile784Thr
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2486T>C
  hgvsp: ENSP00000268989.3:p.Ile829Thr
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2351T>C
  hgvsp: ENSP00000459126.1:p.Ile784Thr
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-446A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14975
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8590
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile829Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-2279434-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279434
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279434
    reference: chr 17
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2353G>C
  hgvsp: ENSP00000459126.1:p.Glu785Gln
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2488G>C
  hgvsp: ENSP00000268989.3:p.Glu830Gln
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-448C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2353G>C
  hgvsp: ENSP00000415107.2:p.Glu785Gln
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu830Gln
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-2279437-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279437
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279437
    reference: chr 17
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2491T>C
  hgvsp: ENST00000268989.3:c.2491T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2356T>C
  hgvsp: ENST00000574563.1:c.2356T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2356T>C
  hgvsp: ENST00000426855.2:c.2356T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-451A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9674
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu831Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-2279441-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279441
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279441
    reference: chr 17
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2360T>C
  hgvsp: ENSP00000459126.1:p.Leu787Pro
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-455A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2360T>C
  hgvsp: ENSP00000415107.2:p.Leu787Pro
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2495T>C
  hgvsp: ENSP00000268989.3:p.Leu832Pro
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23459
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu832Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-2279446-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279446
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279446
    reference: chr 17
allele count: 57
allele frequency: 4.70498893914881e-4
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2365A>C
  hgvsp: ENSP00000415107.2:p.Thr789Pro
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2365A>C
  hgvsp: ENSP00000459126.1:p.Thr789Pro
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2500A>C
  hgvsp: ENSP00000268989.3:p.Thr834Pro
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-460T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8598
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr834Pro
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

17-2279446-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279446
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279446
    reference: chr 17
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2500A>G
  hgvsp: ENSP00000268989.3:p.Thr834Ala
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.402-460T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2365A>G
  hgvsp: ENSP00000415107.2:p.Thr789Ala
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2365A>G
  hgvsp: ENSP00000459126.1:p.Thr789Ala
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5330
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8598
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr834Ala
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: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

17-2279451-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2279451
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 2279451
    reference: chr 17
allele count: 3
allele frequency: 2.476269087907552e-5
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000268989
  ensembl transcript: ENST00000268989
  gene symbol: SGSM2
  hgvsc: ENST00000268989.3:c.2505G>T
  hgvsp: ENST00000268989.3:c.2505G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000263345
  ensembl transcript: ENST00000574290
  gene symbol: RP1-59D14.5
  hgvsc: ENST00000574290.1:n.401+456C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000415107
  ensembl transcript: ENST00000426855
  gene symbol: SGSM2
  hgvsc: ENST00000426855.2:c.2370G>T
  hgvsp: ENST00000426855.2:c.2370G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141258
  ensembl protein: ENSP00000459126
  ensembl transcript: ENST00000574563
  gene symbol: SGSM2
  hgvsc: ENST00000574563.1:c.2370G>T
  hgvsp: ENST00000574563.1:c.2370G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29026
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val835Val
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3988
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16345
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.313e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.493e0

VQSLOD
type: SiteQuality
SIO_000300: -2.412e0

DP
type: SiteQuality
SIO_000300: 2.047933e6

QD
type: SiteQuality
SIO_000300: 4.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.613e1

GenotypeQuality
all individuals: 3989
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.083279375944255e-5
allele num: 64866
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.167712742665304e-3
allele num: 13702
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.184834123222749e-3
allele num: 844
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.419e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 5.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 2.047467e6

GenotypeQuality
all individuals: 6101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3883
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.347538574577516e-5
allele num: 13610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

FS
type: SiteQuality
SIO_000300: 5.006e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 4.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.04486e6

GenotypeQuality
all individuals: 2174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64802
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

DP
type: SiteQuality
SIO_000300: 2.043471e6

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

FS
type: SiteQuality
SIO_000300: 9.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.438e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.261e1

GenotypeQuality
all individuals: 393
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13126
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.351e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 1.635e0

DP
type: SiteQuality
SIO_000300: 2.037836e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

GenotypeQuality
all individuals: 16332
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549522746993926e-5
allele num: 64536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.654e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.719e0

MQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 2.036762e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
all individuals: 3985
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557632398753894e-5
allele num: 64200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.02e-1

MQ
type: SiteQuality
SIO_000300: 6.049e1

DP
type: SiteQuality
SIO_000300: 2.026086e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.555e1

FS
type: SiteQuality
SIO_000300: 4.558e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 3304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.259193189997809e-5
allele num: 63906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.544097693351424e-4
allele num: 11792
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.240694789081886e-3
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 2.018637e6

QD
type: SiteQuality
SIO_000300: 1.416e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

GenotypeQuality
all individuals: 2961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.139421718519449e-5
allele num: 63706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.673e0

FS
type: SiteQuality
SIO_000300: 2.117e0

DP
type: SiteQuality
SIO_000300: 2.014239e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.650176678445229e-4
allele num: 11320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63678
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

DP
type: SiteQuality
SIO_000300: 2.013506e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.423e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.775e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.852252025881023e-5
allele num: 63676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

DP
type: SiteQuality
SIO_000300: 2.013422e6

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 1.776e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 6006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13782
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.143171460003143e-5
allele num: 63630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 4.109e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.62e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.011988e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3987
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.699999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

VQSLOD
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 2.009412e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
all individuals: 3890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.331518298087882e-5
allele num: 63176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

FS
type: SiteQuality
SIO_000300: 1.271e0

QD
type: SiteQuality
SIO_000300: 1.407e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

DP
type: SiteQuality
SIO_000300: 2.003019e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4566
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 8
allele frequency: 6.991784653032686e-4
allele num: 11442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 114
allele frequency: 1.143659711075441e-2
allele num: 9968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587200812646816e-5
allele num: 63004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.869719699960521e-5
allele num: 10132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.004198e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

QD
type: SiteQuality
SIO_000300: 1.544e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.759e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.994638e6

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 3.247e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

FS
type: SiteQuality
SIO_000300: 3.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 1.993438e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.187555782226189e-5
allele num: 62744
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.0408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.306e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 1.993043e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6023
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
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East Asian
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Latino
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African
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allele frequency: 4.024954719259408e-4
allele num: 9938
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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FS
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QD
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Other
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allele frequency: 0.0e0
allele num: 780
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.193317422434368e-4
allele num: 8380
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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Other
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QD
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.197646532152336e-5
allele num: 62546
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Other
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African
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allele frequency: 2.016942315449778e-4
allele num: 9916
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Latino
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allele frequency: 3.504468196951113e-4
allele num: 11414
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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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BaseQRankSum
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VQSLOD
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QD
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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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: 1.195314367678699e-4
allele num: 8366
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Other
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62538
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Other
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Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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DP
type: SiteQuality
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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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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Latino
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allele frequency: 8.768853034023149e-5
allele num: 11404
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9910
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European (Finnish)
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allele frequency: 0.0e0
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.600973391822228e-5
allele num: 62462
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 1.523925632429137e-4
allele num: 6562
num of homozygotes: 0

Latino
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Other
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South Asian
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East Asian
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African
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East 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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VQSLOD
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MQRankSum
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MQ
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FS
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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BaseQRankSum
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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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European (Finnish)
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Other
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FS
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QD
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.974837e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.959e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

FS
type: SiteQuality
SIO_000300: 4.106e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.18e-2

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
all individuals: 3304
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.205690860863275e-4
allele num: 8294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

FS
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.933e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.63e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.07e1

DP
type: SiteQuality
SIO_000300: 1.970344e6

GenotypeQuality
all individuals: 3264
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13068
bin: 6.25e1
variant carriers: 2

African
type: Population
allele count: 1427
allele frequency: 1.450793005286702e-1
allele num: 9836
num of homozygotes: 111

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.865232236036848e-4
allele num: 62092
num of homozygotes: 0

Latino
type: Population
allele count: 66
allele frequency: 5.80372845585649e-3
allele num: 11372
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.432291666666667e-2
allele num: 768
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.337783711615487e-4
allele num: 8988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.99e-2

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 1.153e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

DP
type: SiteQuality
SIO_000300: 2.025427e6

QD
type: SiteQuality
SIO_000300: 1.314e1

GenotypeQuality
all individuals: 4051
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.611655492521919e-5
allele num: 62048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.798169980644026e-5
allele num: 11366
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.414292612264606e-4
allele num: 8284
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 1.950112e6

QD
type: SiteQuality
SIO_000300: 1.197e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.039e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61908
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.105933073290905e-4
allele num: 9742
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.802816901408451e-5
allele num: 11360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8986
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 4.357e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.943999e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.129e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.18e1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

GenotypeQuality
all individuals: 6038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.802816901408451e-5
allele num: 11360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.892e0

FS
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
SIO_000300: 1.943315e6

QD
type: SiteQuality
SIO_000300: 9.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15671
bin: 9.75e1
variant carriers: 5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.625815808556925e-4
allele num: 8274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.232479958624256e-5
allele num: 61872
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.211e1

FS
type: SiteQuality
SIO_000300: 1.204e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

DP
type: SiteQuality
SIO_000300: 1.94233e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.78e-1

GenotypeQuality
all individuals: 4049
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13167
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.232166521219173e-5
allele num: 61878
num of homozygotes: 0

East Asian
type: Population
allele count: 104
allele frequency: 1.256038647342995e-2
allele num: 8280
num of homozygotes: 3

South Asian
type: Population
allele count: 2
allele frequency: 2.2271714922049e-4
allele num: 8980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.003e0

QD
type: SiteQuality
SIO_000300: 1.152e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.946921e6

GenotypeQuality
all individuals: 4654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3017
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.11358574610245e-4
allele num: 8980
num of homozygotes: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 7.255139056831923e-4
allele num: 8270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.028171910343409e-4
allele num: 9726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.081e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 1.93911e6

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3717
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617024028977071e-5
allele num: 61842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.93911e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

GenotypeQuality
all individuals: 4647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.152514427040395e-4
allele num: 9704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.054e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.358e0

DP
type: SiteQuality
SIO_000300: 1.938577e6

MQ
type: SiteQuality
SIO_000300: 5.904e1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeQuality
all individuals: 15592
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.053268765133172e-4
allele num: 8260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.988e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.934698e6

QD
type: SiteQuality
SIO_000300: 1.328e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15588
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.86050354816759e-5
allele num: 61722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 8.202999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.74e-1

DP
type: SiteQuality
SIO_000300: 1.932613e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.179e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

QD
type: SiteQuality
SIO_000300: 1.178e1

MQ
type: SiteQuality
SIO_000300: 5.884e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

GenotypeQuality
all individuals: 6036
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12974
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621954779900736e-5
allele num: 61654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.930358e6

QD
type: SiteQuality
SIO_000300: 2.449e1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.338e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.824e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

GenotypeQuality
all individuals: 2187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622533748701973e-5
allele num: 61632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 1.929638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

QD
type: SiteQuality
SIO_000300: 1.274e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.313e0

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15605
bin: 9.75e1
variant carriers: 110

GenotypeQuality
all individuals: 12223
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.082032063293775e-4
allele num: 9606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 94
allele frequency: 1.530296617067691e-3
allele num: 61426
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.233262861169838e-3
allele num: 11352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.333333333333333e-3
allele num: 750
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.923036e6

QD
type: SiteQuality
SIO_000300: 1.12e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 1.373e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.311e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
all individuals: 149
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3005
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.115075825156111e-4
allele num: 8968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61428
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.918831e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.383e1

VQSLOD
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 5.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 386
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15524
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.28741904730596e-5
allele num: 60838
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.115573404730031e-4
allele num: 8964
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.856e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.53e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.883952e6

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

GenotypeQuality
all individuals: 317
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15518
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.64354743277891e-5
allele num: 60844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.941e0

FS
type: SiteQuality
SIO_000300: 4.713e0

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

DP
type: SiteQuality
SIO_000300: 1.881002e6

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3315
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.934210526315789e-5
allele num: 60800
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.430724355858046e-4
allele num: 8228
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.115573404730031e-4
allele num: 8964
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

FS
type: SiteQuality
SIO_000300: 2.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

DP
type: SiteQuality
SIO_000300: 1.874371e6

QD
type: SiteQuality
SIO_000300: 1.419e1

GenotypeQuality
all individuals: 15506
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.299785513941594e-5
allele num: 60610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.327e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 5.016e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.865543e6

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 3313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.299785513941594e-5
allele num: 60610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.327e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 5.016e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.865543e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

GenotypeQuality
all individuals: 329
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9720
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.354465624330692e-4
allele num: 9338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60602
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.858394e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 15492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2162
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.11632060727841e-4
allele num: 8958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.384e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.846997e6

QD
type: SiteQuality
SIO_000300: 8.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.556e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 3462
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2757
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.308738378056447e-5
allele num: 60446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

DP
type: SiteQuality
SIO_000300: 1.84364e6

FS
type: SiteQuality
SIO_000300: 1.198e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 8.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657165583985152e-5
allele num: 60344
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 1.838708e6

FS
type: SiteQuality
SIO_000300: 8.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.657165583985152e-5
allele num: 60344
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

Latino
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allele frequency: 3.536693191865606e-4
allele num: 11310
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.838708e6

FS
type: SiteQuality
SIO_000300: 8.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.41e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60264
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8960
num of homozygotes: 0

African
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allele frequency: 5.421817393190197e-4
allele num: 9222
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.322e1

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.835147e6

MQ
type: SiteQuality
SIO_000300: 5.812e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
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East Asian
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allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.782e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.927e0

DP
type: SiteQuality
SIO_000300: 2.089978e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.007e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.022e0

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 2.090282e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.096e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.096526e6

FS
type: SiteQuality
SIO_000300: 1.0752e1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

QD
type: SiteQuality
SIO_000300: 1.082e1

VQSLOD
type: SiteQuality
SIO_000300: -1.913e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

South Asian
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allele frequency: 1.820388349514563e-4
allele num: 16480
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.913e-1

FS
type: SiteQuality
SIO_000300: 1.0752e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.096526e6

QD
type: SiteQuality
SIO_000300: 1.082e1

MQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Latino
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allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.097508e6

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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num of homozygotes: 0

Latino
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Other
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European (Non-Finnish)
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allele frequency: 3.00960062599693e-5
allele num: 66454
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South Asian
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DP
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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East Asian
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allele frequency: 8.094357076780758e-4
allele num: 8648
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.009691205682297e-5
allele num: 66452
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Other
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DP
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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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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variant carriers: 1

European (Finnish)
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allele num: 6612
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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Other
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.104747e6

GenotypeQuality
all individuals: 5330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23429
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.817883985353633e-4
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.518e1

DP
type: SiteQuality
SIO_000300: 2.105027e6

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5330
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.104746e6

MQRankSum
type: SiteQuality
SIO_000300: -1.184e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.839e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.301e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.214e1

VQSLOD
type: SiteQuality
SIO_000300: -1.55e-2

GenotypeQuality
all individuals: 188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

VQSLOD
type: SiteQuality
SIO_000300: -2.025e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

MQ
type: SiteQuality
SIO_000300: 5.734e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.01e-1

DP
type: SiteQuality
SIO_000300: 2.104983e6

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 6612
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 5.243e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 2.105204e6

QD
type: SiteQuality
SIO_000300: 1.415e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

GenotypeQuality
all individuals: 5330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.411255411255411e-4
allele num: 66528
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 18
allele frequency: 1.090116279069767e-3
allele num: 16512
num of homozygotes: 1

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

DP
type: SiteQuality
SIO_000300: 2.106982e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.71e-2

FS
type: SiteQuality
SIO_000300: 1.109e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.329e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

GenotypeQuality
all individuals: 2065
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2822
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23480
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.71e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.329e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.106982e6

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1