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13q12.11CNV Type: Deletion-Duplication


Largest CNV size: 311113 bp

Statistics Box:
Number of Reports: 18



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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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...
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 311000
 2
 0
 2
 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
 311113
 5
 29
 34
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 230917
 1
 0
 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
 2737371
 4
 1
 5
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 155427
 3
 1
 4
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 479196
 3
 3
 6
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 137689
 0
 1
 1
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 67332
 0
 1
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 8726
 0
 4
 4
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 48297
 1
 2
 3
 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
 206850
 1
 0
 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
 477603
 6
 5
 11
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 500497
 1
 139
 140
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 307000
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 ± 4.04 yrs.
 89.3% Male
 108897
 0
 1
 1
 brandler_16_ASD_discovery_cases
 ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
 71
 Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
 N/A
 N/A
 3557
 1
 0
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 ± 2.92 yrs.)
 N/A
 113922
 0
 1
 1
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 481435
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 ? 30 yrs.
 
 37828
 0
 2
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 31235
 3
 16
 19
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0
 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
 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)
 155427
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 112168
 1
 0
 1
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 67332
 N/A
 N/A
 N/A
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 826
 0
 2
 2
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 48297
 1
 2
 3
 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
 266529
 6
 5
 11
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 360173
 0
 107
 107
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 ± 10.12 yrs.
 48.0% Male
 108897
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 shen_10_ASD_discovery_cases
 
 aCGH (n=589) or array SNP (n=108)
  Agilent 244A, Affy NspI + Affy SytI, or Affy 5
 BRLMM & CNAT4 (Affy 500K); Partek Genomic Suite (Affy 5.0)
 CGH Analytics or DNA Analytics software (aCGH)
 None
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K or 105K
 
 Feature Extraction & DNA Analytics
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 walker_13_ASD_discovery_cases
  N/A
 Solid phase hybridization (n=993) or array SNP (n=498)
  Illumina 1M (n=993) or Affymetrix 6.0 (n=498)
 
 QuantiSNP and PennCNV (Illumina); Birdsuite, iPattern and Genotyping Console for Affymetrix
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 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)
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH (n=18) or array SNP (n=97)
  BlueGnome CytoChip v2 (n=18), Affymetrix 6.0 (n=69), or Affymetrix Cytoscan HD (n=28)
 
 Affymeytrix Genotyping Console v3.0.2
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
 Affymetrix Genotyping Console v4.1
 None
 brandler_16_ASD_discovery_cases
  N/A
 Whole genome sequencing
  Illumina HiSeq
 Lumpy
 SVtyper, gtCNV
 Solid phase hybridization (Illumina 2.5M)
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl or IlluminaHiSeq2000
 
 CoNIFER
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K or 105K
 
  Feature Extraction & DNA Analytics
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH (PDx controls)
  Agilent 1M (PDx controls)
  PDx controls: ADM-2, DNAcopy (R Bioconductor)
  PDx controls: DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  walker_13_ASD_discovery_controls
  N/A
  Solid phase hybridization (n=1287) or array SNP (n=2357)
  Illumina 1M (n=1287) or Affymetrix 6.0 (n=2357)
 
  QuantiSNP and PennCNV (Illumina); Birdsuite, iPattern and Genotyping Console for Affymetrix
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix Genome-Wide Human SNP Array 6
 
  Affymetrix Genotyping Console v4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  shen_10_ASD_discovery_cases-ASD-09-054
 NA
 M
 ASD
 NA
 NA
 19698883
 20002569
  304000
 UCSC Genome Browser hg18
 Deletion
 No
  shen_10_ASD_discovery_cases-ASD-09-055
 NA
 F
 ASD
 NA
 NA
 19691189
 19860032
  311000
 UCSC Genome Browser hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11045.p1
 8
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
 20626755
 20630175
  3420
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11086.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 19361867
 19368071
  6204
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11135.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
 20626320
 20630175
  3855
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11255.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130
 19372771
 19443150
  70379
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11267.p1
 13
 F
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 79
 19710563
 19936647
  226084
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11294.p1
 6
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
 19318175
 19343443
  25268
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11305.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11309.p1
 16
 M
 Autism
 NA
 Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
 19318175
 19343443
  25268
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11349.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 80; verbal IQ, 50
 21549348
 21551053
  1705
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11363.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11587.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
 19318175
 19343443
  25268
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11627.p1
 5
 M
 ASD
 NA
 Full-scale IQ, 92; non-verbal IQ, 100; verbal IQ, 83
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11665.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
 20626755
 20630175
  3420
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11824.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
 21542217
 21546144
  3927
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-11827.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11909.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
 20626320
 20630175
  3855
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-11919.p1
 4
 M
 ASD
 NA
 Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104
 20626320
 20630175
  3855
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12011.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
 19318175
 19349410
  31235
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12137.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 19119855
 19430968
  311113
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12150.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
 20200058
 20219254
  19196
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12187.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12240.p1
 8
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
 19323948
 19349410
  25462
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12306.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12308.p1
 14
 F
 Aspergers
 NA
 Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 105
 20626320
 20630175
  3855
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12362.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
 19318175
 19343443
  25268
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12403.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 22119348
 22122008
  2660
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12407.p1
 9
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
 19318175
 19349410
  31235
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12561.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
 19323948
 19349410
  25462
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12568.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 75; verbal IQ, 26
 20626320
 20630175
  3855
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12757.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12879.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13095.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
 20626320
 20630348
  4028
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-13168.p1
 7
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 20627226
 20630348
  3122
 hg18
 Duplication
 No
  levy_11_ASD_discovery_cases-11267.p1
 NA
 F
 ASD
 NA
 NA
 19701123
 19932039
  230917
 hg18
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004140
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19309335
 22046706
  2737371
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002774
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19498790
 21439928
  1941138
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001814
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19721293
 19993898
  272605
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001857
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 19721293
 19993898
  272605
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21439869
 21975779
  535910
 NCBI36
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case68609
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 18650499
 18665387
  14889
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case122692L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 21013000
 21020730
  7731
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case138645L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 19885140
 19912001
  26862
 
 Deletion
 No
  prasad_12_ASD_discovery_cases-case91547L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 20446469
 20601895
  155427
 
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13287.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 18540000
 18840000
  302000
 hg18
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13784.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 19133515
 19223738
  90223
 hg18
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-14044.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 18991146
 19470342
  479196
 hg18
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-14452.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 19700000
 20000000
  304000
 hg18
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU074403
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 19700000
 20000000
  304000
 hg18
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-AU1744301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 19027522
 19503622
  476100
 hg18
 Duplication
 Yes
  girirajan_13b_ASD_discovery_cases-7908109348
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 19060238
 19197927
  137689
 Build36/hg18
 Duplication
 No
  walker_13_ASD_discovery_cases-case8-14175-2820
 N/A
 M
 ASD
 N/A
 N/A
 19256616
 19323948
  67332
 hg18
 Duplication
 No
  krumm_13_ASD_discovery_cases-case11676.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 11676. SRS score of 90.
 Full-scale IQ (FSIQ) score of 78.
 21303218
 21311944
  8726
 hg19
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12011.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12011. SRS score of 82.
 Full-scale IQ (FSIQ) score of 82.
 20425494
 20426320
  826
 hg19
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12561.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12561. SRS score of 73.
 Full-scale IQ (FSIQ) score of 102.
 20425494
 20426320
  826
 hg19
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13322.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13322. SRS score of 77.
 Full-scale IQ (FSIQ) score of 59.
 20425494
 20426320
  826
 hg19
 Duplication
 No (not tested)
  poultney_13_ASD_discovery_cases-case05HI3947A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1514302; NDAR ID NDAR_INVXD529UKD)
 
 20412838
 20426322
  13485
 hg19
 Duplication
 No
  poultney_13_ASD_discovery_cases-case98HI0266B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU017504; NDAR ID NDAR_INVWK082CR2)
 
 20277313
 20325609
  48297
 hg19
 Deletion
 No
  poultney_13_ASD_discovery_cases-case98HI0442A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU016404; NDAR ID NDAR_INVHC581UNM)
 
 20048052
 20067643
  19592
 hg19
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-120
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 19722043
 19928892
  206850
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14039_680
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19710563
 19919343
  208780
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14141_2390
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19710563
 19928892
  218329
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14175_2820
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19256616
 19323948
  67332
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14312_4290
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19704975
 19928892
  223917
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18094_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19029135
 19506738
  477603
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case20003_1019001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19694497
 20000665
  306168
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4230_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19128525
 19226143
  97618
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4462_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20976174
 21041703
  65529
 hg18
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5285_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20450462
 20601584
  151122
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8197_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19036645
 19396817
  360172
 hg18
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8617_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19704975
 19919343
  214368
 hg18
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11043.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11045.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11050.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11052.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11064.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11109.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11117.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11160.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11194.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11201.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11212.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11220.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11247.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11252.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11301.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11305.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11309.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11327.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11329.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11352.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11363.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11364.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11370.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11387.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11391.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11412.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11414.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11429.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11432.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11458.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11469.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11472.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11521.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11524.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11558.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11563.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11575.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11597.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11616.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11625.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11665.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11676.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21303218
 21306260
  3042
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11691.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11753.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11797.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11824.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11827.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11851.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11869.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11893.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11897.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11916.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11939.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11959.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21721324
 21746645
  25321
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11978.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12007.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21734033
 21746645
  12612
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12025.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12046.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12056.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12093.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12097.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12137.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 20222561
 20426320
  203759
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12153.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746841
  17606
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12194.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12225.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12274.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12335.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12343.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12359.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12426.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12430.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12439.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12448.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12507.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12517.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12540.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12607.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12610.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12617.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12630.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12633.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12695.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12700.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12717.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12736.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12749.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12792.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12799.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12842.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12907.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12932.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21720943
 21746645
  25702
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12962.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12964.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12969.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13038.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13039.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13057.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13071.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13089.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13120.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13139.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13165.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13207.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13239.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13252.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13307.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746841
  17606
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13324.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13367.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13424.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13447.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13455.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13496.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13534.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13557.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13567.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13576.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13606.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13645.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13654.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13764.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13781.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13793.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13823.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13864.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13895.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13901.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13913.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13927.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13982.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13985.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14013.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14044.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 20067564
 20568061
  500497
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14104.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21720943
 21746645
  25702
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14123.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14147.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14193.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14200.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14369.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14399.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 21729235
 21746645
  17410
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14455.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 21729235
 21742540
  13305
 hg19
 Duplication
 Yes
  xu_16_ASD/DD/ID_discovery_cases-case29
 N/A
 N/A
 Developmental delay
 Primary diagnosis of developmental delay based on DQ scores.
 
 19695316
 20002412
  307000
 hg18
 Deletion
 No
  yin_16_ASD_discovery_cases-case444
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 20545714
 20654610
  108897
 GRCh37/hg19
 Duplication
 No
  brandler_16_ASD_discovery_cases_caseREACH000292
 N/A
 M
 ASD
 Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
 
 21131642
 21135198
  3557
 GRCh37/hg19
 Deletion
 Yes
  mosca_16_DCD_discovery_cases-case115204
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 20153516
 20267437
  113922
 GRCh37/hg19
 Duplication
 No
  pfundt_16_NDD_discovery_cases-case41
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: GJB2 GJB6 deletion
 
 20659961
 21141396
  481435
 Not reported (likely GRCh37/hg19)
 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
  nord_11_ASD_discovery_controls-04C26659
 
 
  Control
 
 
  19314564
  19352391
  37828
 
  Duplication
 
  nord_11_ASD_discovery_controls-04C27935
 
 
  Control
 
 
  19314564
  19345384
  30821
 
  Duplication
 
  sanders_11_ASD_discovery_controls-11108.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  20625038
  20630175
  5137
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11224.s1
  7
  F
  Control (matched sibling)
  NA
  NA
  20626320
  20630175
  3855
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11349.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  21549348
  21551053
  1705
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11488.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  19318175
  19343443
  25268
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11509.s1
  20
  M
  Control (matched sibling)
  NA
  NA
  19318175
  19343443
  25268
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11563.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  19323948
  19343443
  19495
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11564.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  19867210
  19876006
  8796
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-11627.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  20626320
  20630348
  4028
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11753.s1
  15
  F
  Control (matched sibling)
  NA
  NA
  20626945
  20627226
  281
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11775.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  20626320
  20630175
  3855
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11827.s1
  20
  F
  Control (matched sibling)
  NA
  NA
  20626320
  20630348
  4028
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-11909.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  20626320
  20630348
  4028
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12011.s1
  10
  M
  Control (matched sibling)
  NA
  NA
  19318175
  19349410
  31235
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12033.s1
  12
  M
  Control (matched sibling)
  NA
  NA
  20626755
  20630175
  3420
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12051.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  20626320
  20630348
  4028
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12083.s1
  5
  F
  Control (matched sibling)
  NA
  NA
  20626320
  20630348
  4028
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12187.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  20626320
  20627226
  906
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-12403.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  22119348
  22122008
  2660
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12674.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  20626320
  20630348
  4028
  hg18
  Duplication
  No
  girirajan_13b_ASD_discovery_controls-30705103901
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  20861835
  20974003
  112168
  Build36/hg18
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11509.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11509. SRS score N/A.
 
  20425494
  20426320
  826
  hg19
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12011.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12011. SRS score of 43.
 
  20425494
  20426320
  826
  hg19
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C27933A
  N/A
  M
  Control
  NIMH Control (NIMH ID 38427)
 
  20412838
  20426322
  13485
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C28088A
  N/A
  F
  Control
  NIMH Control (NIMH ID 37885)
 
  20412838
  20426322
  13485
  hg19
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C40631
  N/A
  F
  Control
  NIMH Control (NIMH ID 80004)
 
  20277313
  20325609
  48297
  hg19
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19305353
  19392558
  87205
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22033954
  22176018
  142064
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900968_900968
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19870553
  19993720
  123167
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900390_900390
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19305353
  19392558
  87205
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB810722_1007874889
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19318175
  19368071
  49896
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB573294_1007852893
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19736219
  19796058
  59839
  hg18
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB391985_1007840230
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20711257
  20849809
  138552
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB331842_1007873285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  18867463
  19133992
  266529
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB331842_1007873285
  N/A
  N/A
  Control
  No previous psychiatric history
 
  20937671
  21021676
  84005
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036022952_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19128525
  19236643
  108118
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036016178_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  19736219
  19796058
  59839
  hg18
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11045.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11046.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11159.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11160.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11190.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11201.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11212.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11220.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11251.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11325.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11330.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746841
  17606
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11339.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11347.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11391.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11412.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11450.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11458.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11463.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11466.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11472.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11521.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11542.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11575.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11597.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11616.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11625.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746841
  17606
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11775.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746841
  17606
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11792.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746841
  17606
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11797.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11812.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11869.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11939.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11959.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11981.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11982.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11984.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12007.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12041.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12044.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12229.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12231.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12274.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12329.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12382.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12399.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12518.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12540.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12568.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12610.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12626.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12695.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12700.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12701.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12840.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12923.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12924.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12930.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12932.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12969.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13005.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13010.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13021.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13036.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13063.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13071.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13072.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13076.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13077.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13082.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13089.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13120.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13139.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13188.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13239.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13250.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13266.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13416.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13456.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13533.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13543.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13547.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13556.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13576.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13636.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13642.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13644.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13645.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13654.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13666.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13692.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13697.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13764.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13793.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13813.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13850.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13851.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13855.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13901.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13913.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13966.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13991.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13997.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14044.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  20207888
  20568061
  360173
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14116.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14128.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21746645
  17410
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14153.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14405.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21729235
  21742540
  13305
  hg19
  Duplication
  Yes

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 shen_10_ASD_discovery_cases-ASD-09-054
 
 
 Unknown
 NA
 NA
 GJB6,CRYL1,MIR4499
 
 shen_10_ASD_discovery_cases-ASD-09-055
 
 
 Unknown
 NA
 NA
 GJB6
 
 sanders_11_ASD_discovery_cases-11045.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11135.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-11255.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ZMYM2
 
 sanders_11_ASD_discovery_cases-11267.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CRYL1
 
 sanders_11_ASD_discovery_cases-11294.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZMYM5
 
 sanders_11_ASD_discovery_cases-11305.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-11309.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-11349.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-11363.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C13orf3
 
 sanders_11_ASD_discovery_cases-11587.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-11627.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-11665.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-11824.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11827.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-11909.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-11919.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-12011.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12137.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MPHOSPH8, PSPC1, ZMYM2, ZMYM5
 
 sanders_11_ASD_discovery_cases-12150.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 N6AMT2
 
 sanders_11_ASD_discovery_cases-12187.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-12240.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12306.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C13orf3
 
 sanders_11_ASD_discovery_cases-12308.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-12362.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Maternal
 Simplex (trio)
 NA
 C13orf3
 
 sanders_11_ASD_discovery_cases-12403.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12407.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12561.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ZMYM5
 
 sanders_11_ASD_discovery_cases-12568.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-12757.p1
 
 
 Paternal
 Simplex (trio)
 NA
 C13orf3
 
 sanders_11_ASD_discovery_cases-12879.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 sanders_11_ASD_discovery_cases-13095.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 C13orf3
 
 sanders_11_ASD_discovery_cases-13168.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 C13orf3
 
 levy_11_ASD_discovery_cases-11267.p1
 
 
 Maternal
 Simplex
 Segregated
 CRYL1,GJB6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004140
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 ZMYM5,ZMYM2,GJA3,GJB2,GJB6,CRYL1,IFT88,IL17D,N6AMT2,XPO4,LATS2,SAP18,SKA3,MRP63,ZDHHC20,EFHA1,FGF9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002774
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 ZMYM2,GJA3,GJB2,GJB6,CRYL1,IFT88,IL17D,N6AMT2,XPO4,LATS2,SAP18,SKA3,MRP63,ZDHHC20,EFHA1,FGF9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001814
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 CRYL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001857
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CRYL1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001146
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case68609
 
 
 Unknown
 Unknown
 Unknown
 TUBA3C
 
 prasad_12_ASD_discovery_cases-case122692L
 
 
 Unknown
 Unknown
 Unknown
 EFHA1
 
 prasad_12_ASD_discovery_cases-case138645L
 
 
 Unknown
 Unknown
 Unknown
 CRYL1
 
 prasad_12_ASD_discovery_cases-case91547L
 
 
 Unknown
 Unknown
 Unknown
 LATS2
 
 girirajan_13a_ASD_discovery_cases-13287.p1
 
 
 Unknown
 Simplex
 Unknown
 TUBA3C
 
 girirajan_13a_ASD_discovery_cases-13784.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 MPHOSPH8,PSPC1
 
 girirajan_13a_ASD_discovery_cases-14044.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 TPTE2,MPHOSPH8,PSPC1,ZMYM5,ZMYM2
 
 girirajan_13a_ASD_discovery_cases-14452.p1
 
 
 Unknown
 Simplex
 Unknown
 GJB6,CRYL1
 
 girirajan_13a_ASD_discovery_cases-AU074403
 
 
 Unknown
 Multiplex
 Unknown
 GJB6,CRYL1
 
 girirajan_13a_ASD_discovery_cases-AU1744301
 aCGH (NimbleGen 135K array)
 
 Maternal
 Multiplex
 Unknown
 MPHOSPH8,PSPC1,ZMYM5,ZMYM2
 
 girirajan_13b_ASD_discovery_cases-7908109348
 
 
 Unknown
 Unknown
 Unknown
 MPHOSPH8,PSPC1
 
 walker_13_ASD_discovery_cases-case8-14175-2820
 
 
 Unknown
 Simplex
 Unknown
 ZMYM5
 
 krumm_13_ASD_discovery_cases-case11676.p1
 
 
 Maternal
 Simplex
 Segregated
 N6AMT2
 
 krumm_13_ASD_discovery_cases-case12011.p1
 
 
 Paternal
 Simplex
 Not segregated
 ZMYM5
 
 krumm_13_ASD_discovery_cases-case12561.p1
 
 
 Paternal
 Simplex
 Segregated
 ZMYM5
 
 krumm_13_ASD_discovery_cases-case13322.p1
 
 
 Paternal
 Simplex
 Segregated
 ZMYM5
 
 poultney_13_ASD_discovery_cases-case05HI3947A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 ZMYM5
 
 poultney_13_ASD_discovery_cases-case98HI0266B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PSPC1
 
 poultney_13_ASD_discovery_cases-case98HI0442A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TPTE2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-120
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 CRYL1
 
 engchuan_15_ASD_discovery_cases-case14039_680
 
 
 Unknown
 
 
 CRYL1
 
 engchuan_15_ASD_discovery_cases-case14141_2390
 
 
 Unknown
 
 
 CRYL1
 
 engchuan_15_ASD_discovery_cases-case14175_2820
 
 
 Unknown
 
 
 ZMYM5
 
 engchuan_15_ASD_discovery_cases-case14312_4290
 
 
 Unknown
 
 
 CRYL1
 
 engchuan_15_ASD_discovery_cases-case18094_301
 
 
 Unknown
 
 
 MPHOSPH8;PSPC1;ZMYM2;ZMYM5
 
 engchuan_15_ASD_discovery_cases-case20003_1019001
 
 
 Unknown
 
 
 CRYL1;GJB6
 
 engchuan_15_ASD_discovery_cases-case4230_1
 
 
 Unknown
 
 
 MPHOSPH8;PSPC1
 
 engchuan_15_ASD_discovery_cases-case4462_1
 
 
 Unknown
 
 
 EFHA1
 
 engchuan_15_ASD_discovery_cases-case5285_3
 
 
 Unknown
 
 
 LATS2
 
 engchuan_15_ASD_discovery_cases-case8197_202
 
 
 Unknown
 
 
 MPHOSPH8;PSPC1;ZMYM5
 
 engchuan_15_ASD_discovery_cases-case8617_201
 
 
 Unknown
 
 
 CRYL1
 
 krumm_15_ASD_discovery_cases-case11043.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11045.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11050.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11052.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11064.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11109.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11117.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11160.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11194.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11201.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11212.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11220.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11247.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case11252.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11301.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11305.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11309.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11327.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11329.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11352.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11363.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11364.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11370.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11387.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case11391.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11412.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11414.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11429.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case11432.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case11458.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11469.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11472.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11521.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11524.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11558.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case11563.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11575.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11597.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11616.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11625.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11665.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11676.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 N6AMT2,Exon (5/5),Intron (4/4),Exon (4/5)
 
 krumm_15_ASD_discovery_cases-case11691.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11753.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11797.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11824.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11827.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11851.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11869.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11893.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11897.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case11916.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11939.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11959.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SAP18,SKA3,Exon (4/4),Exon (9/9),Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Exon (8/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case11978.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12007.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12025.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12046.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12056.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12093.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12097.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case12137.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 MPHOSPH8,PSPC1,ZMYM5,Intron (5/13),Exon (6/14),Intron (7/13),Exon (8/14),Intron (8/13),Intron (9/13),Exon (10/14),Intron (10/13),Intron (11/13),Intron (12/13),Intron (13/13),Exon (14/14),Exon (10/10),Intron (9/9),Exon (9/10),Intron (8/9),Intron (7/9),Exon (7/10),Intron (6/9),Exon (6/10),Intron (5/9),Intron (4/9),Intron (3/9),Exon (3/10),Intron (2/9),Exon (2/10),Exon (8/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (5/5),Intron (4/4),Exon (6/6),Intron (5/5),Exon (5/6),Intron (4/5)
 
 krumm_15_ASD_discovery_cases-case12153.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Exon (3/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7),Exon (3/8)
 
 krumm_15_ASD_discovery_cases-case12194.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12225.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12274.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12335.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12343.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case12359.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case12426.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12430.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12439.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12448.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12507.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case12517.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12540.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12607.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12610.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12617.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12630.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12633.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12695.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12700.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12717.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12736.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12749.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12792.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case12799.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12842.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12907.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case12932.p1
 1M-Duov3
 
 De novo
 Simplex
 Not segregated (CNV in unaffected sibling)
 SAP18,SKA3,Exon (4/4),Exon (9/9),Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Exon (8/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12962.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12964.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case12969.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13038.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13039.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13057.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13071.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case13089.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13120.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13139.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13165.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13207.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case13239.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13252.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13307.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Exon (3/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7),Exon (3/8)
 
 krumm_15_ASD_discovery_cases-case13324.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13367.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13424.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13447.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13455.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13496.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13534.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13557.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13567.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13576.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case13606.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13645.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13654.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13764.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13781.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13793.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13823.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case13864.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13895.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13901.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case13913.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case13927.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case13982.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 krumm_15_ASD_discovery_cases-case13985.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case14013.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case14044.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TPTE2,MPHOSPH8,PSPC1,ZMYM5,ZMYM2
 
 krumm_15_ASD_discovery_cases-case14104.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 SAP18,SKA3,Exon (4/4),Exon (9/9),Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Exon (8/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case14123.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case14147.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case14193.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case14200.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case14369.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case14399.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
 krumm_15_ASD_discovery_cases-case14455.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
 xu_16_ASD/DD/ID_discovery_cases-case29
 
 
 Maternal
 
 
 GJB6,CRYL1
 
 yin_16_ASD_discovery_cases-case444
 
 
 Unknown
 Unknown
 Unknown
 ZMYM2,BC044596
 
 brandler_16_ASD_discovery_cases_caseREACH000292
 Solid phase hybridization (Illumina 2.5M)
 
 De novo
 Unknown
 Possibly segregated
 o genes
 
 mosca_16_DCD_discovery_cases-case115204
 
 
 Unknown
 Unknown
 Unknown
 MPHOSPH8
 
 pfundt_16_NDD_discovery_cases-case41
 
 
 
 
 
 ZMYM2 GJA3 GJB2 GJB6 CRYL1 MIR4499 IFT88
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
nord_11_ASD_discovery_controls-04C26659
 
 
 
 
 
  ZMYM5
 
nord_11_ASD_discovery_controls-04C27935
 
 
 
 
 
  ZMYM5
 
sanders_11_ASD_discovery_controls-11108.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-11224.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-11349.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-11488.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZMYM5
 
sanders_11_ASD_discovery_controls-11509.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZMYM5
 
sanders_11_ASD_discovery_controls-11563.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZMYM5
 
sanders_11_ASD_discovery_controls-11564.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CRYL1
 
sanders_11_ASD_discovery_controls-11627.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-11753.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-11775.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-11827.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-11909.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-12011.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ZMYM5
 
sanders_11_ASD_discovery_controls-12033.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-12051.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-12083.s1
 
 
  Maternal
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-12187.s1
 
 
  Both parents
  Simplex (quad)
  NA
  C13orf3
 
sanders_11_ASD_discovery_controls-12403.s1
 
 
  Paternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12674.s1
 
 
  Paternal
  Simplex (quad)
  NA
  C13orf3
 
girirajan_13b_ASD_discovery_controls-30705103901
 
 
  Unknown
 
 
  ZDHHC20,MICU2
 
krumm_13_ASD_discovery_controls-control11509.s1
 
 
  Paternal
  Simplex
 
  ZMYM5
 
krumm_13_ASD_discovery_controls-control12011.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  ZMYM5
 
poultney_13_ASD_discovery_controls-control04C27933A
 
 
  Unknown
 
 
  ZMYM5
 
poultney_13_ASD_discovery_controls-control04C28088A
 
 
  Unknown
 
 
  ZMYM5
 
poultney_13_ASD_discovery_controls-control05C40631
 
 
  Unknown
 
 
  PSPC1
 
engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
 
 
  Unknown
 
 
  ZMYM5
 
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlHABC_900968_900968
 
 
  Unknown
 
 
  CRYL1
 
engchuan_15_ASD_discovery_controls-controlHABC_900390_900390
 
 
  Unknown
 
 
  ZMYM5
 
engchuan_15_ASD_discovery_controls-controlB810722_1007874889
 
 
  Unknown
 
 
  ZMYM5
 
engchuan_15_ASD_discovery_controls-controlB573294_1007852893
 
 
  Unknown
 
 
  0 genes
 
engchuan_15_ASD_discovery_controls-controlB391985_1007840230
 
 
  Unknown
 
 
  ZDHHC20
 
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
 
 
  Unknown
 
 
  MPHOSPH8;TPTE2
 
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
 
 
  Unknown
 
 
  EFHA1
 
engchuan_15_ASD_discovery_controls-control110036022952_
 
 
  Unknown
 
 
  MPHOSPH8;PSPC1
 
engchuan_15_ASD_discovery_controls-control110036016178_
 
 
  Unknown
 
 
  0 genes
 
krumm_15_ASD_discovery_controls-control11045.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control11046.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11159.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11160.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11190.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11201.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11212.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11220.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11251.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control11325.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11330.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Exon (3/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7),Exon (3/8)
 
krumm_15_ASD_discovery_controls-control11339.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11347.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11391.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11412.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11450.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control11458.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11463.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11466.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11472.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11521.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11542.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11575.s1
  Illumina 1M
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11597.s1
  Illumina 1M
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11616.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11625.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Exon (3/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7),Exon (3/8)
 
krumm_15_ASD_discovery_controls-control11775.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Exon (3/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7),Exon (3/8)
 
krumm_15_ASD_discovery_controls-control11792.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Exon (3/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7),Exon (3/8)
 
krumm_15_ASD_discovery_controls-control11797.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11812.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control11869.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11939.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11959.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11981.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control11982.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control11984.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control12007.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control12041.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12044.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12229.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12231.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12274.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12329.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12382.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12399.s1
  1M-Duov3
 
  De novo
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12518.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control12540.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12568.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12610.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12626.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12695.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12700.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control12701.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12840.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control12923.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12924.s1
  Illumina 1MDuo
 
  De novo
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12930.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12932.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control12969.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13005.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13010.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13021.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13036.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13063.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13071.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13072.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13076.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13077.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13082.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13089.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13120.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13139.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13188.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13239.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13250.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13266.s1
  Illumina 1MDuo
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13416.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13456.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13533.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13543.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13547.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13556.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13576.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13636.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13642.s1
  1M-Duov3
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13644.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13645.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13654.s1
  1M-Duov3
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13666.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13692.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13697.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13764.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13793.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13813.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13850.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13851.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13855.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13901.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13913.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13966.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control13991.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control13997.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control14044.s1
  Omni2.5-4v1
 
  Paternal
 
 
  MPHOSPH8,PSPC1,ZMYM5,ZMYM2,Intron (1/13),Intron (2/13),Exon (3/14),Intron (3/13),Intron (4/13),Intron (5/13),Intron (7/13),Intron (8/13),Exon (9/14),Intron (9/13),Intron (10/13),Exon (11/14),Intron (11/13),Intron (12/13),Intron (13/13),Exon (14/14),Exon (10/10),Intron (9/9),Intron (8/9),Intron (7/9),Exon (7/10),Intron (6/9),Intron (5/9),Exon (5/10),Intron (4/9),Exon (4/10),Intron (3/9),Intron (2/9),Exon (2/10),Exon (8/8),Intron (7/7),Exon (7/8),Intron (6/7),Intron (5/7),Intron (4/7),Exon (4/8),Intron (2/7),Intron (1/7),Exon (1/8),Exon (5/5),Intron (4/4),Exon (4/5),Intron (2/4),Intron (1/4),Exon (1/5),Exon (6/6),Intron (5/5),Intron (4/5),Exon (4/6),Intron (2/5),Intron (1/5),Exon (1/6),Exon (1/25),Intron (1/24),Intron (2/24),Exon (1/26),Intron (1/25),Intron (2/25),Intron (3/25)
 
krumm_15_ASD_discovery_controls-control14116.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control14128.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (3/8),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8),Intron (3/7)
 
krumm_15_ASD_discovery_controls-control14153.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 
krumm_15_ASD_discovery_controls-control14405.s1
  Omni2.5-4v1
 
  Paternal
 
 
  SKA3,Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Exon (6/9),Intron (5/8),Exon (5/9),Intron (4/8),Exon (4/9),Intron (7/7),Exon (7/8),Intron (6/7),Exon (6/8),Intron (5/7),Exon (5/8),Intron (4/7),Exon (4/8)
 

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