rsid large_stringlengths 5 12 ⌀ | variant_key large_stringlengths 5 111 ⌀ | conclusion large_stringlengths 10 1.08k ⌀ | negatives large_stringclasses 0
values | module large_stringclasses 10
values | gene large_stringlengths 0 12 ⌀ | phenotype large_stringlengths 0 1.02k ⌀ | category large_stringclasses 13
values |
|---|---|---|---|---|---|---|---|
rs1553152590 | rs1553152590 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided|Coffin-Siris syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided|Coffin-Siris syndrome 1 | |
rs1553152590 | rs1553152590 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided|Coffin-Siris syndrome 1 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided|Coffin-Siris syndrome 1 | |
null | ga4gh:VA.NCHNlER2cVNfmCMvd1UhWnrOW1ShoOYn | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.NCHNlER2cVNfmCMvd1UhWnrOW1ShoOYn | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124086560 | rs2124086560 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124086560 | rs2124086560 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.fiqHHztPyt5yYALUgbosbV-YHqY1S25b | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
null | ga4gh:VA.fiqHHztPyt5yYALUgbosbV-YHqY1S25b | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
rs1557612048 | ga4gh:VA.fpM3uBmAPTcAFBATeWM8rf4l3DjdaLR1 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
rs1557612048 | ga4gh:VA.fpM3uBmAPTcAFBATeWM8rf4l3DjdaLR1 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
rs1557612048 | ga4gh:VA.h-lK0xubp38NfLNiKSlmz2XGFIeT88Uu | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1557612048 | ga4gh:VA.h-lK0xubp38NfLNiKSlmz2XGFIeT88Uu | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26767892:AC:A | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26767892:AC:A | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124087389 | rs2124087389 | ClinVar: likely_pathogenic (1★) — ARID1A-related BAFopathy | genotype: heterozygous (one copy) | null | cancer | ARID1A | ARID1A-related BAFopathy | |
rs2124087389 | rs2124087389 | ClinVar: likely_pathogenic (1★) — ARID1A-related BAFopathy | genotype: homozygous (two copies) | null | cancer | ARID1A | ARID1A-related BAFopathy | |
rs1570609440 | rs1570609440 | ClinVar: likely_pathogenic (1★) — ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | |
rs1570609440 | rs1570609440 | ClinVar: likely_pathogenic (1★) — ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | ARID1A-related BAFopathy|Intellectual disability, autosomal dominant 14 | |
rs2124087488 | rs2124087488 | ClinVar: likely_pathogenic (1★) — Neurodevelopmental delay | genotype: heterozygous (one copy) | null | cancer | ARID1A | Neurodevelopmental delay | |
rs2124087488 | rs2124087488 | ClinVar: likely_pathogenic (1★) — Neurodevelopmental delay | genotype: homozygous (two copies) | null | cancer | ARID1A | Neurodevelopmental delay | |
null | ga4gh:VA.VNxNB9sl_pV1o2N-uned2Lv_8bSQ0zLK | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.VNxNB9sl_pV1o2N-uned2Lv_8bSQ0zLK | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2521936399 | rs2521936399 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs2521936399 | rs2521936399 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2124087634 | rs2124087634 | ClinVar: likely_pathogenic (2★) — not provided|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided|Intellectual disability, autosomal dominant 14 | |
rs2124087634 | rs2124087634 | ClinVar: likely_pathogenic (2★) — not provided|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided|Intellectual disability, autosomal dominant 14 | |
rs2124087817 | rs2124087817 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs2124087817 | rs2124087817 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2081053546 | rs2081053546 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2081053546 | rs2081053546 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26767998:AG:A | ClinVar: likely_pathogenic (1★) — Intellectual disability | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability | |
null | 1:26767998:AG:A | ClinVar: likely_pathogenic (1★) — Intellectual disability | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability | |
null | ga4gh:VA.w0L6SbQAJQe0kznYAlHicj5KH0wXEyrH | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.w0L6SbQAJQe0kznYAlHicj5KH0wXEyrH | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.0c575I1m1aqPDdE58LTKFjThSL7n43Kn | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
null | ga4gh:VA.0c575I1m1aqPDdE58LTKFjThSL7n43Kn | ClinVar: likely_pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
rs1030084592 | rs1030084592 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided|Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided|Inborn genetic diseases | |
rs1030084592 | rs1030084592 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided|Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided|Inborn genetic diseases | |
rs2124097438 | rs2124097438 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
rs2124097438 | rs2124097438 | ClinVar: pathogenic (2★) — Intellectual disability, autosomal dominant 14|not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|not provided | |
null | ga4gh:VA.SIAV51YVbbUzj1y-43KJKHNK2BVG73PN | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.SIAV51YVbbUzj1y-43KJKHNK2BVG73PN | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs1085307923 | rs1085307923 | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs1085307923 | rs1085307923 | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.jG6JPdju-9A0b_rNE8XFdrj1001yarwI | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.jG6JPdju-9A0b_rNE8XFdrj1001yarwI | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2124111295 | rs2124111295 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID1A | Inborn genetic diseases | |
rs2124111295 | rs2124111295 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID1A | Inborn genetic diseases | |
rs2521983222 | rs2521983222 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2521983222 | rs2521983222 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1553153130 | rs1553153130 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs1553153130 | rs1553153130 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.tE8MF095H6UdxVQX8YE3IFqY1mxry1Je | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.tE8MF095H6UdxVQX8YE3IFqY1mxry1Je | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs387906846 | rs387906846 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 1 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 1 | |
rs387906846 | rs387906846 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 1 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14|Coffin-Siris syndrome 1 | |
rs2124114899 | rs2124114899 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124114899 | rs2124114899 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124115285 | rs2124115285 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124115285 | rs2124115285 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2081109271 | rs2081109271 | ClinVar: likely_pathogenic (2★) — Neurodevelopmental delay|not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | Neurodevelopmental delay|not provided | |
rs2081109271 | rs2081109271 | ClinVar: likely_pathogenic (2★) — Neurodevelopmental delay|not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | Neurodevelopmental delay|not provided | |
rs2081113293 | rs2081113293 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2081113293 | rs2081113293 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2521999900 | rs2521999900 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs2521999900 | rs2521999900 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | 1:26774796:T:TCATGG | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
null | 1:26774796:T:TCATGG | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2124120683 | rs2124120683 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124120683 | rs2124120683 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | ga4gh:VA.2-KMueIZg49fqK8IAxgYUnMqdEPuD7jk | ClinVar: likely_pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
null | ga4gh:VA.2-KMueIZg49fqK8IAxgYUnMqdEPuD7jk | ClinVar: likely_pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | 1:26774935:TCTAA:T | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
null | 1:26774935:TCTAA:T | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | 1:26775064:ATGCAGAAGGCAGGTCCCCCAGTACCTGCC:A | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26775064:ATGCAGAAGGCAGGTCCCCCAGTACCTGCC:A | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1553153291 | rs1553153291 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1553153291 | rs1553153291 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26775699:CTCAG:C | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26775699:CTCAG:C | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs797045264 | rs797045264 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs797045264 | rs797045264 | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1485978447 | rs1485978447 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1485978447 | rs1485978447 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2522034049 | rs2522034049 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2522034049 | rs2522034049 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26779155:G:GTGTC | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26779155:G:GTGTC | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs1064796010 | rs1064796010 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs1064796010 | rs1064796010 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
rs2124138237 | rs2124138237 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: heterozygous (one copy) | null | cancer | ARID1A | Inborn genetic diseases | |
rs2124138237 | rs2124138237 | ClinVar: pathogenic (1★) — Inborn genetic diseases | genotype: homozygous (two copies) | null | cancer | ARID1A | Inborn genetic diseases | |
rs1064794151 | rs1064794151 | ClinVar: pathogenic (1★) — not provided | genotype: heterozygous (one copy) | null | cancer | ARID1A | not provided | |
rs1064794151 | rs1064794151 | ClinVar: pathogenic (1★) — not provided | genotype: homozygous (two copies) | null | cancer | ARID1A | not provided | |
null | 1:26779370:G:GGT | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
null | 1:26779370:G:GGT | ClinVar: likely_pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2081169212 | rs2081169212 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2081169212 | rs2081169212 | ClinVar: pathogenic (1★) — Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Intellectual disability, autosomal dominant 14 | |
rs2124140469 | rs2124140469 | ClinVar: pathogenic (1★) — Malignant tumor of urinary bladder|Intellectual disability, autosomal dominant 14 | genotype: heterozygous (one copy) | null | cancer | ARID1A | Malignant tumor of urinary bladder|Intellectual disability, autosomal dominant 14 | |
rs2124140469 | rs2124140469 | ClinVar: pathogenic (1★) — Malignant tumor of urinary bladder|Intellectual disability, autosomal dominant 14 | genotype: homozygous (two copies) | null | cancer | ARID1A | Malignant tumor of urinary bladder|Intellectual disability, autosomal dominant 14 |
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