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Xp11.23CNV Type: Deletion-Duplication


Largest CNV size: 200765 bp

Statistics Box:
Number of Reports: 13


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic ...
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 alesi_12_DD_discovery_cases
 Only child of unrelated parents with developmental delay, autistic features, and growth retardation
 1
 Referred to neuropsychiatric clinic for developmental delay, autistic features (CARS score of 44.5/moderate-severe autism risk), and growth retardation
 3 yrs.
 Male
 335400
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 3837963
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 43762
 0
 1
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 379718
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 209618
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 680360
 0
 4
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 90754
 7
 10
 17
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 556100
 1
 1
 2
 panigrahi_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
 32
 Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
 Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
 78.125% Male
 596309
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 7089
 1
 0
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 185595
 1
 2
 3
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 200765
 1
 116
 117
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 5000
 3
 0
 3

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 444674
 0
 1
 1
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 90754
 11
 7
 18
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 7089
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 189662
 1
 50
 51

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 alesi_12_DD_discovery_cases
  European
 aCGH
  BlueGnome Cytochip 4X44K
 
 Mapix, BlufuseMulti
 PCR, FISH
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 panigrahi_24_ASD/DD/ID_discovery_cases
  India
 Array SNP
  Affymetrix CytoScan 750K
 
 
 
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  alesi_12_DD_discovery_cases-case1
 3 yrs.
 M
 Developmental delay + autistic features
 CARS score of 44.5 (moderate to severe autism risk). Birth/neonatal history: intrauterine growth retardation detected by ultrasound during 7th month of pregnancy; born at 40 weeks gestation by C-section due to fetal distress; weight, length, and head circumference all <3rd %ile at birth; umbilical hernia that regressed spontaneously at 3 months; no feeding or sleeping problems. Developmental milestones: delayed milestones; able to stand alone at 24 months and walk at 27 months; achieved lallation at one year; delayed adaptive skills (started using a spoon at 3 years). Language and communication evaluation: capable of saying only a few words, but not always able to communicate efficiently. Motor and musculoskeletal evaluation: moderate hypotonia, articular hyperlaxity. Beahvioral/psychiatric evaluation: affectionate child with intermittent contact, no tolerance to frustrations, restricted interests, repetitive behaviors, selective feeding, stereotyped movements in stressful situations, difficulties in forging relationships and in communicating. Epilepsy/seizures: none. EEG: normal. Vision: prgoressive myopia. Hearing: bilateral neurosensorial hypoacusia. Dysmorphic features: downslanting palpebral fissures, everted lower eyelids, epicanthal folds, everted lower lip, mid face hypoplasia, micrognathia, tapering fingers, 5th finger clinodactyly, single palmar crease on right hand, gynoid fat distribution, mobile asymmetric testes (left>right), accessory spleen visible on abdominal ultrasound. Family history: only child of unrelated parents; no family history of mental retardation or other possible genetic diseases.
 Global developmental age of 16 months, 27 days at a chronological age of 34 months (Brunet-Lezine test)
 47686715
 48022082
  335368
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299792
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 48214791
 52169092
  3954302
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case20184_1708001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48409877
 48454705
  44829
 GRCh38
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case664-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 47990893
 48370579
  379687
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case13
 4 yrs. 7 mos.
 M
 Epilepsy and developmental delay
 Speech delay, seizures, macrocephaly, congenital heart defect, optic nerve atrophy, facial dysmorphisms. Karyotype: 9phqh.
 Cognitive delay
 47792455
 48002073
  209619
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000396
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 47820327
 48344725
  524399
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000788
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 47820327
 48344725
  524399
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001871
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 48003345
 48153696
  150352
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004863
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 48612125
 49292405
  680281
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11145.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48058467
 48117149
  58683
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11502.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48058467
 48117149
  58683
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11660.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48058467
 48117149
  58683
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12001.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48058467
 48117149
  58683
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12058.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48058467
 48117149
  58683
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12158.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48009548
 48066886
  57339
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12162.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48058467
 48117149
  58683
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12211.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48058467
 48117149
  58683
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12308.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 47976166
 48060203
  84038
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12977.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48058467
 48117149
  58683
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13158.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48002594
 48066886
  64293
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13266.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 47976166
 48066931
  90766
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13657.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48009548
 48066886
  57339
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13898.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48009365
 48060945
  51581
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13914.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 48009365
 48066886
  57522
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case14042.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48058467
 48117149
  58683
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14394.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 48009548
 48066886
  57339
 GRCh38
 Duplication
 Yes
  oikonomakis_16_ASD_discovery_cases-case35
 12 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: narrow downslanting palpebral fissures, thin upper lip, large prominent ears, deep philtrum, delayed myelinosis, hyperactivity, isolated behavior
 
 48797585
 48840662
  43078
 GRCh38
 Deletion
 No
  oikonomakis_16_ASD_discovery_cases-case562
 4 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: absent speech
 
 48344666
 48902921
  558256
 GRCh38
 Duplication
 No
  panigrahi_24_ASD/DD/ID_discovery_cases-case9
  NA NA
 10 yrs.
 M
 Intellectual disability
 Obesity
 Mild intellectual disability
 49009222
 49605530
  596309
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case57842L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 48363429
 48370517
  7089
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1127-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: no.
 48013718
 48121492
  107775
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 49317625
 49595095
  277471
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-127
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 49317625
 49595095
  277471
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11001.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11087.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11121.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
 49317625
 49605054
  287430
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11145.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11165.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11188.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
 49091750
 49246642
  154892
 NCBI36
 Duplication
 No
  sanders_11_ASD_discovery_cases-11202.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11333.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
 49313557
 49605054
  291498
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11387.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
 47586519
 47592851
  6333
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11473.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
 49323219
 49585426
  262208
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11629.p1
 17.6
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11644.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
 49313557
 49606195
  292639
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11645.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11818.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11851.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 92; verbal IQ, 121
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 49317625
 49605054
  287430
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12014.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12032.p1
 10.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12038.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 83; verbal IQ, 60
 49313557
 49595095
  281539
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12048.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12058.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 122; verbal IQ, 139
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12060.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
 49313557
 49595095
  281539
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12066.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12086.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 108; verbal IQ, 131
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12097.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12102.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
 49313557
 49595095
  281539
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12103.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
 49313557
 49595095
  281539
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12157.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 93
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12162.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12206.p1
 17.1
 M
 Aspergers
 NA
 Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
 49313557
 49595095
  281539
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12223.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 104; verbal IQ, 80
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12240.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12257.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12284.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 61
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12287.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12312.p1
 5.5
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
 49313557
 49605054
  291498
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12313.p1
 11.8
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
 49342849
 49595095
  252247
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12323.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12341.p1
 13.8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12354.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 81
 49313557
 49606195
  292639
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 49313557
 49595095
  281539
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12404.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
 49313557
 49595095
  281539
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12424.p1
 4.2
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12462.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12463.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 73
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12478.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12480.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12543.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 67
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12565.p1
 10.6
 F
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12573.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 70; verbal IQ, 80
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12596.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12644.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12739.p1
 6.8
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12743.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 114; verbal IQ, 108
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12748.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12757.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12758.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12785.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12786.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12788.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12792.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12820.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 72; verbal IQ, 47
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12831.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 94; verbal IQ, 64
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12878.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12901.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 110
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12902.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 114; verbal IQ, 123
 49313557
 49595095
  281539
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12923.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
 49335933
 49605054
  269122
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12930.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12931.p1
 17.6
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 53; verbal IQ, 45
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12937.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12951.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 64; verbal IQ, 44
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12956.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12962.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12964.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 48; verbal IQ, 28
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12972.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12975.p1
 10.4
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12976.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12979.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12984.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12989.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12998.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13006.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13007.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 107; verbal IQ, 67
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13010.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 122; verbal IQ, 99
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13014.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13015.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13016.p1
 5.5
 M
 Aspergers
 NA
 Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13018.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13021.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13045.p1
 11.1
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13067.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13070.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13073.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13077.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13079.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 141; verbal IQ, 128
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13085.p1
 14.8
 M
 ASD
 NA
 Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13104.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 49335933
 49605054
  269122
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13218.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13226.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13244.p1
 15.7
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 74; verbal IQ, 63
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13294.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 49324660
 49605054
  280395
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13304.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
 49335933
 49595095
  259163
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13323.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13324.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13327.p1
 12.6
 M
 Aspergers
 NA
 Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13337.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13382.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ, 83
 49324660
 49595095
  270436
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case12
 7 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 47470813
 47475828
  5016
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case18
 3 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability
 
 47470813
 47475828
  5016
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case84
 9 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 47470813
 47475828
  5016
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlHABC_902749_902749
  N/A
  N/A
  Control
  No previous psychiatric history
 
  47914996
  48359634
  444639
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11047.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48009548
  48066886
  57339
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11365.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48009548
  48066886
  57339
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11892.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  47084417
  47089993
  5577
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12180.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  47976166
  48066886
  90721
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12211.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12261.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48009548
  48066886
  57339
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12638.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12650.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12952.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13006.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13034.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  47038948
  47081309
  42362
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13038.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13042.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13191.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13266.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  47976166
  48066931
  90766
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13523.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48009548
  48066886
  57339
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13709.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13948.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  48058467
  48117149
  58683
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  48251655
  48338344
  86690
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11638.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  49335933
  49595095
  259163
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11653.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  49335933
  49595095
  259163
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12044.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12086.s1
  25.2
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12198.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  49313557
  49595095
  281539
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12202.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  49091750
  49246642
  154892
  NCBI36
  Duplication
  No
  sanders_11_ASD_discovery_controls-12206.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  49313557
  49595095
  281539
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12224.s1
  6
  M
  Control (matched sibling)
  NA
  NA
  49335933
  49595095
  259163
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12235.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49605054
  280395
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12241.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12255.s1
  14.6
  M
  Control (matched sibling)
  NA
  NA
  49335933
  49595095
  259163
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12297.s1
  11.9
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12304.s1
  16.9
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12329.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  49313557
  49595095
  281539
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12368.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12460.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12463.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  49093951
  49246642
  152691
  NCBI36
  Duplication
  No
  sanders_11_ASD_discovery_controls-12478.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12573.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12582.s1
  9.2
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12605.s1
  13.3
  M
  Control (matched sibling)
  NA
  NA
  49335933
  49595095
  259163
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12644.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12701.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49605054
  280395
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12743.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12748.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12794.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12829.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49605054
  280395
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12865.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12901.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  49335933
  49595095
  259163
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12902.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12908.s1
  7.6
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49605054
  280395
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12916.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  49335933
  49595095
  259163
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12923.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  49335933
  49595095
  259163
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12930.s1
  14.8
  M
  Control (matched sibling)
  NA
  NA
  49335933
  49595095
  259163
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12937.s1
  18.9
  M
  Control (matched sibling)
  NA
  NA
  48261567
  48433286
  171720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12937.s1
  18.9
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12938.s1
  17.3
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12951.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12955.s1
  9.5
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12964.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12976.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49605054
  280395
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12977.s1
  5.3
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12984.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13018.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13023.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  49313557
  49595095
  281539
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13038.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13088.s1
  13.8
  F
  Control (matched sibling)
  NA
  NA
  48189551
  48367007
  177457
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13128.s1
  8.8
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13324.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  49324660
  49595095
  270436
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 alesi_12_DD_discovery_cases-case1
 PCR, FISH
 
 Maternal
 Simplex
 Possibly segregated
 WASF4P,ZNF182,ZNF630,SPACA5,CXXC1P1,ZNF81,RPL7P57
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299792
 qPCR
 
 Unknown
 
 
 SSXP9,SSX4,SSX4B,EBP,MRPL32P1,VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,PIM2,RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,VDAC1P2,SALL1P1,PAGE4,USP27X-AS1,USP27X,RNU6-421P,MIR532,MIR188,MIR500A,MIR362,MIR501,MIR500B,MIR660,MIR502,PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,SSX1,SSX9P,SSX3,SLC38A5,FTSJ1,PORCN,TBC1D25,RBM3,WDR13,WAS,GATA1,HDAC6,SLC35A2,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,PAGE1,NUDT11,MAGED1,MAGED4B,GAGE12D,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,PPP1R3F,CCNB3
 
 engchuan_15_ASD_discovery_cases-case20184_1708001
 
 
 Unknown
 
 
 SSX4B
 
 gazzellone_14_ASD_discovery_cases-case664-3
 
 
 Unknown
 Unknown
 Unknown
 ZNF630-AS1,SPACA5B,RNU6-707P,SSXP3,SSX5,RNA5SP503,SSXP9,ZNF182,ZNF630,SPACA5,SSX6P,SSX1,SSX9P,SSX3,ZNF81
 
 iourov_12_ASD/ID/EP_discovery_cases-case13
 
 
 Unknown
 Unknown
 Unknown
 WASF4P,ZNF182,ZNF630,ZNF81,RPL7P57
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000396
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ZNF630-AS1,SPACA5B,RNU6-707P,SSXP3,SSX5,RNA5SP503,SSXP9,ZNF182,ZNF630,SPACA5,SSX6P,SSX1,SSX9P,ZNF81,RPL7P57
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000788
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 ZNF630-AS1,SPACA5B,RNU6-707P,SSXP3,SSX5,RNA5SP503,SSXP9,ZNF182,ZNF630,SPACA5,SSX6P,SSX1,SSX9P,ZNF81,RPL7P57
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001871
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ZNF630-AS1,SPACA5B,ZNF182,ZNF630,SPACA5,SSX6P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004863
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,PIM2,RNU6-722P,KCND1,PRAF2,RNU4-52P,RN7SL262P,PLP2,SYP,HSPB1P2,FOXP3,WAS,GATA1,HDAC6,SLC35A2,OTUD5,GRIPAP1,TFE3,CCDC120,WDR45,GPKOW,MAGIX,PRICKLE3,SYP-AS1,CACNA1F,CCDC22,PPP1R3F
 
 krumm_15_ASD_discovery_cases-case11145.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SSX6P
 
 krumm_15_ASD_discovery_cases-case11502.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SSX6P
 
 krumm_15_ASD_discovery_cases-case11660.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SSX6P
 
 krumm_15_ASD_discovery_cases-case12001.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SSX6P
 
 krumm_15_ASD_discovery_cases-case12058.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SSX6P
 
 krumm_15_ASD_discovery_cases-case12158.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SPACA5
 
 krumm_15_ASD_discovery_cases-case12162.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SSX6P
 
 krumm_15_ASD_discovery_cases-case12211.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ZNF630-AS1,ZNF630,SSX6P
 
 krumm_15_ASD_discovery_cases-case12308.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF182,ZNF630,SPACA5,ZNF81
 
 krumm_15_ASD_discovery_cases-case12977.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SSX6P
 
 krumm_15_ASD_discovery_cases-case13158.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF182,ZNF630,SPACA5
 
 krumm_15_ASD_discovery_cases-case13266.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ZNF630-AS1,ZNF182,ZNF630,SPACA5,ZNF81
 
 krumm_15_ASD_discovery_cases-case13657.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SPACA5
 
 krumm_15_ASD_discovery_cases-case13898.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SPACA5
 
 krumm_15_ASD_discovery_cases-case13914.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SPACA5
 
 krumm_15_ASD_discovery_cases-case14042.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 ZNF630-AS1,ZNF630,SSX6P
 
 krumm_15_ASD_discovery_cases-case14394.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ZNF630-AS1,ZNF630,SPACA5
 
 oikonomakis_16_ASD_discovery_cases-case35
 
 
 Maternal
 
 
 ERAS,PCSK1N,HDAC6
 
 oikonomakis_16_ASD_discovery_cases-case562
 
 
 De novo
 
 
 SSX4,SSX4B,EBP,MRPL32P1,VN1R110P,SUV39H1,RNU6-1056P,GLOD5,RNU6-29P,ERAS,PCSK1N,TIMM17B,PQBP1,SSX3,SLC38A5,FTSJ1,PORCN,TBC1D25,RBM3,WDR13,WAS,GATA1,HDAC6
 
 panigrahi_24_ASD/DD/ID_discovery_cases-case9
 
 
 Unknown
 
 
 CACNA1F,GAGE2E,GPKOW,FOXP3,CCDC22,MAGIX,PPP1R3F,CCDC120,GAGE1,GAGE13,GAGE12G,HSPB1P2,GAGE2A,GAGE12F,GAGE12H,GAGE12C,GAGE12E,GAGE12B,GAGE12J,PRICKLE3,GAGE12D,SYP-AS1,PLP2,GAGE10,RN7SL262P,SYP,TFE3,RNU4-52P,PRAF2,WDR45
 
 prasad_12_ASD_discovery_cases-case57842L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1127-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ZNF630-AS1,ZNF630,SSX6P
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-186
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-127
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11001.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11087.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11121.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11145.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11165.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11188.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE4, GAGE5, GAGE6, GAGE7, GAGE8
 
 sanders_11_ASD_discovery_cases-11202.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11333.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11387.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TIMP1,MIR4769,SYN1
 
 sanders_11_ASD_discovery_cases-11473.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE12D
 
 sanders_11_ASD_discovery_cases-11629.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11644.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11645.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11818.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11851.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12014.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12032.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12038.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12048.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12058.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12060.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12066.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12086.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12097.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12102.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12103.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12157.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12162.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12206.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12223.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12240.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12257.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12284.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12287.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12312.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12313.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12323.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12341.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12354.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12404.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12424.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12462.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12463.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12478.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12480.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12543.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12565.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12573.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12596.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12644.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12739.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12743.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12748.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12757.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12758.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12785.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12786.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12788.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12792.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12794.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12820.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12831.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12878.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12901.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12902.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12923.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12930.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12931.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12937.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12951.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12956.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12962.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12964.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12972.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12975.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12976.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12979.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12984.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12989.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-12998.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13006.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13007.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13010.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13014.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13015.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13016.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13018.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13021.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13045.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13067.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13070.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13073.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13077.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13079.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13085.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13104.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13218.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13226.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13244.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13294.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13304.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13323.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13324.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13327.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13337.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sanders_11_ASD_discovery_cases-13382.p1
 
 
 Unknown
 Simplex (trio)
 NA
 GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
 sansovic_17_DD/ID/ASD_discovery_cases-case12
 
 
 Maternal
 
 
 ZNF41
 
 sansovic_17_DD/ID/ASD_discovery_cases-case18
 
 
 Unknown
 
 
 ZNF41
 
 sansovic_17_DD/ID/ASD_discovery_cases-case84
 
 
 Maternal
 
 
 ZNF41
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902749_902749
 
 
  Unknown
 
 
  ZNF630-AS1,SPACA5B,RNU6-707P,SSXP3,SSX5,RNA5SP503,SSXP9,ZNF182,ZNF630,SPACA5,SSX6P,SSX1,SSX9P,SSX3,ZNF81
 
krumm_15_ASD_discovery_controls-control11047.s1
  Illumina 1M
 
  Maternal
 
 
  ZNF630-AS1,ZNF630,SPACA5
 
krumm_15_ASD_discovery_controls-control11365.s1
  Illumina 1M
 
  Maternal
 
 
  ZNF630-AS1,ZNF630,SPACA5
 
krumm_15_ASD_discovery_controls-control11892.s1
  Illumina 1MDuo
 
  Paternal
 
 
  RNU6-1189P,RGN
 
krumm_15_ASD_discovery_controls-control12180.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ZNF630-AS1,ZNF182,ZNF630,SPACA5,ZNF81
 
krumm_15_ASD_discovery_controls-control12211.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
krumm_15_ASD_discovery_controls-control12261.s1
  Illumina 1MDuo
 
  Maternal
 
 
  ZNF630-AS1,ZNF630,SPACA5
 
krumm_15_ASD_discovery_controls-control12638.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
krumm_15_ASD_discovery_controls-control12650.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
krumm_15_ASD_discovery_controls-control12952.s1
  1M-Duov3
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
krumm_15_ASD_discovery_controls-control13006.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
krumm_15_ASD_discovery_controls-control13034.s1
  1M-Duov3
 
  Maternal
 
 
  RGN,JADE3
 
krumm_15_ASD_discovery_controls-control13038.s1
  Illumina 1MDuo
 
  Maternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
krumm_15_ASD_discovery_controls-control13042.s1
  Illumina 1MDuo
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
krumm_15_ASD_discovery_controls-control13191.s1
  1M-Duov3
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
krumm_15_ASD_discovery_controls-control13266.s1
  Illumina 1MDuo
 
  Maternal
 
 
  ZNF630-AS1,ZNF182,ZNF630,SPACA5,ZNF81
 
krumm_15_ASD_discovery_controls-control13523.s1
  1M-Duov3
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SPACA5
 
krumm_15_ASD_discovery_controls-control13709.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
krumm_15_ASD_discovery_controls-control13948.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ZNF630-AS1,ZNF630,SSX6P
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SSXP9,SSX1,SSX9P
 
sanders_11_ASD_discovery_controls-11638.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-11653.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12044.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12086.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12198.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12202.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE4, GAGE5, GAGE6, GAGE7, GAGE8
 
sanders_11_ASD_discovery_controls-12206.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12224.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12235.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12241.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12255.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12297.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12304.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12329.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12368.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12460.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12463.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GAGE12B, GAGE12C, GAGE12D, GAGE12E, GAGE12F, GAGE12G, GAGE12H, GAGE12I, GAGE2A, GAGE2B, GAGE2C, GAGE2D, GAGE2E, GAGE4, GAGE5, GAGE6, GAGE7, GAGE8
 
sanders_11_ASD_discovery_controls-12478.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12573.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12582.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12605.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12644.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12701.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12743.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12748.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12794.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12829.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12865.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12901.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12902.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12908.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12916.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12923.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12930.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12937.s1
 
 
  Unknown
  Simplex (quad)
  NA
  SSXP9,SSX4,SSX4B,SSX1,SSX9P,SSX3
 
sanders_11_ASD_discovery_controls-12937.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12938.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12951.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12955.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12964.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12976.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12977.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-12984.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-13018.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-13023.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE10,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-13038.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-13088.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SSX5,RNA5SP503,SSXP9,SSX1,SSX9P,SSX3
 
sanders_11_ASD_discovery_controls-13128.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 
sanders_11_ASD_discovery_controls-13324.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GAGE12J,GAGE2E,GAGE12B,GAGE12C,GAGE12E,GAGE12G,GAGE12H,GAGE13,GAGE12F,GAGE1,GAGE2A,GAGE12D
 

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