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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BRCA1 Gene

protein-coding   GIFtS: 73
GCID: GC17M041197

Breast Cancer 1, Early Onset

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Breast Cancer 1, Early Onset1 2     BRCC12
RNF532 3     IRIS2
RING Finger Protein 532 3     PPP1R532
BROVCA12 5     BRCA1/BRCA2-Containing Complex, Subunit 12
PNCA42 5     Breast And Ovarian Cancer Susceptibility Protein 12
PSCP2 5     Breast And Ovarian Cancer Sususceptibility Protein 12
BRCA1/BRCA2-Containing Complex1     Breast Cancer Type 1 Susceptibility Protein2
Protein Phosphatase 11     Protein Phosphatase 1, Regulatory Subunit 532
Regulatory Subunit 531     EC 6.3.2.-3
Subunit 11     EC 6.3.28
BRCAI2     

External Ids:    HGNC: 11001   Entrez Gene: 6722   Ensembl: ENSG000000120487   OMIM: 1137055   UniProtKB: P383983   
ORGUL members:         
NONCODE14:n407962      

Export aliases for BRCA1 gene to outside databases

Previous GC identifers: GC17P062255 GC17M043361 GC17M041105 GC17M041569 GC17M038450 GC17M036962


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BRCA1 Gene:
This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as
a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal
transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance
complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also
interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of
double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of
inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a
role in modulating the subcellular localization and physiological function of this gene. Many alternatively
spliced transcript variants, some of which are disease-associated mutations, have been described for this gene,
but the full-length natures of only some of these variants has been described. A related pseudogene, which is
also located on chromosome 17, has been identified. (provided by RefSeq, May 2009)

GeneCards Summary for BRCA1 Gene: 
BRCA1 (breast cancer 1, early onset) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with BRCA1 include breast cancer, and ovarian cancer, and among its related super-pathways are Fanconi's Anaemia Pathway and Cell cycle Transition and termination of DNA replication. GO annotations related to this gene include transcription coactivator activity and RNA binding.

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
Function: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin
chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear
whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase
activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range
of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic
stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to
mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2
phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for
FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by
binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous
recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly
through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks.
Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on
DNA damage via BRCA1-mediated ubiquitination of RBBP8

Gene Wiki entry for BRCA1 (Talk:BRCA1) Gene

PharmGKB "VIP" summary for BRCA1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BRCA1 gene promoter:
         ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBRCA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BRCA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRCA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

BRCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRCA1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M041197:  view genomic region     (about GC identifiers)

Start:
41,196,312 bp from pter      End:
41,277,500 bp from pter
Size:
81,189 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398 (See protein sequence)
Recommended Name: Breast cancer type 1 susceptibility protein  
Size: 1863 amino acids; 207721 Da
Subunit: Heterodimer with BARD1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains
BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the MRE11-RAD50-NBN protein (MRN) complex. This association could be
a dynamic process changing throughout the cell cycle and within subnuclear domains. Component of the BRCA1-A
complex, at least composed of the BRCA1, BARD1, UIMC1, BRCC3, BRE and BABAM1. Interacts (via the BRCT domains)
with FAM175A. Component of the BRCA1-RBBP8 complex. Interacts (via the BRCT domains) with RBBP8 ('Ser-327'
phosphorylated form); the interaction ubiquitinates RBBP8, regulates CHEK1 activation, and involves RBBP8 in
BRCA1-dependent G2/M checkpoint control on DNA damage. Associates with RNA polymerase II holoenzyme. Interacts
with SMC1A and COBRA1. Interacts (via BRCT domains) with BRIP1 (phosphorylated form). Interacts with FANCD2
(ubiquitinated form). Interacts with BAP1. Interacts with DCLRE1C and CLSPN. Interacts with H2AFX (phosphorylated
on 'Ser-140'). Interacts with CHEK1 and CHEK2. Interacts with BRCC3. Interacts (via the BRCT domains) with ACACA
(phosphorylated form); the interaction prevents dephosphorylation of ACACA. Interacts with AURKA. Interacts with
UBXN1. Part of a trimeric complex containing BRCA1, BRCA2 and PALB2. Interacts directly with PALB2; the
interaction is essential for its function in HRR. Interacts directly with BRCA2; the interaction occurs only in
the presence of PALB2 which serves as the bridging protein. Interacts (via the BRCT domains) with LMO4; the
interaction represses the transcriptional activity of BRCA1. Interacts with KIAA0101/PAF15
Subcellular location: Nucleus. Chromosome (By similarity). Note=Localizes at sites of DNA damage at double-strand
breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex
Subcellular location: Isoform 3: Cytoplasm
Subcellular location: Isoform 5: Cytoplasm
6/20 PDB 3D structures from and Proteopedia for BRCA1 (see all 20):
1JM7 (3D)        1JNX (3D)        1N5O (3D)        1OQA (3D)        1T15 (3D)        1T29 (3D)    
Secondary accessions: O15129 Q3LRJ0 Q3LRJ6 Q6IN79 Q7KYU9
Alternative splicing, Alternative initiation: 6 isoforms:  P38398-1   P38398-2   P38398-3   P38398-4   P38398-5   P38398-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BRCA1: NX_P38398

Explore proteomics data for BRCA1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-308 by AURKA is required for normal cell cycle progression from G2 to mitosis.
    Phosphorylated in response to IR, UV, and various stimuli that cause checkpoint activation, probably by ATM or
    ATR. Phosphorylation at Ser-988 by CHEK2 regulates mitotic spindle assembly
  • UniProtKB: Autoubiquitinated, undergoes 'Lys-6'-linked polyubiquitination. 'Lys-6'-linked polyubiquitination does not promote
    degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P38398

  • 4/51 DME Specific Peptides for BRCA1 (P38398) (see all 51)
     AKCSIKG  GRNHQGP  CPICLEL  ITKRSLQ 

    BRCA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BRCA1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_009225.1  NP_009228.2  NP_009229.2  NP_009230.2  NP_009231.2  

    ENSEMBL proteins: 
     ENSP00000350283   ENSP00000417148   ENSP00000465818   ENSP00000467329   ENSP00000465347  
     ENSP00000418775   ENSP00000418960   ENSP00000418548   ENSP00000420705   ENSP00000419481  
     ENSP00000420412   ENSP00000418819   ENSP00000418212   ENSP00000417241   ENSP00000397145  
     ENSP00000419274   ENSP00000419988   ENSP00000420253   ENSP00000418986   ENSP00000419103  
     ENSP00000420201   ENSP00000417554   ENSP00000417988   ENSP00000420781   ENSP00000326002  
     ENSP00000312236   ENSP00000246907   ENSP00000338007   ENSP00000310938  
    Reactome Protein details: P38398
    Human Recombinant Protein Products for BRCA1: 
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    Novus Biologicals BRCA1 Protein
    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for BRCA1 

    Gene Ontology (GO): 5/16 cellular component terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex NAS14976165
    GO:0000793condensed chromosome ----
    GO:0000794condensed nuclear chromosome ----
    GO:0001726ruffle IDA--
    GO:0005634nucleus IDA17525340

    BRCA1 for ontologies           About GeneDecksing



    BRCA1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of BRCA1
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    Novus Biologicals BRCA1 Antibodies
    Abcam antibodies for BRCA1
    Cloud-Clone Corp. Antibodies for BRCA1 
    ThermoFisher Antibodies for BRCA1
    LSBio Antibodies in human, mouse, rat for BRCA1 

    Assay Products for BRCA1: 
    EMD Millipore Kits and Assays for the Analysis of BRCA1
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BRCA1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BRCA1 
    Cloud-Clone Corp. CLIAs for BRCA1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits
    RNF: RING-type (C3HC4) zinc fingers

    5/7 InterPro protein domains (see all 7):
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR011364 BRCA1
     IPR018957 Znf_C3HC4_RING-type
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry P38398

    ProtoNet protein and cluster: P38398

    3 Blocks protein domains:
    IPB001357 BRCT domain
    IPB001841 Zn-finger
    IPB002378 Breast cancer type I susceptibility protein signature


    UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
    Domain: The BRCT domains recognize and bind phosphorylated pSXXF motif on proteins. The interaction with the
    phosphorylated pSXXF motif of FAM175A/Abraxas, recruits BRCA1 at DNA damage sites
    Domain: The RING-type zinc finger domain interacts with BAP1
    Similarity: Contains 2 BRCT domains
    Similarity: Contains 1 RING-type zinc finger


    BRCA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BRCA1_HUMAN, P38398
    Function: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin
    chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear
    whether it also mediates the formation of other types of polyubiquitin chains. The E3 ubiquitin-protein ligase
    activity is required for its tumor suppressor function. The BRCA1-BARD1 heterodimer coordinates a diverse range
    of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic
    stability. Regulates centrosomal microtubule nucleation. Required for normal cell cycle progression from G2 to
    mitosis. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2
    phase of the cell cycle. Involved in transcriptional regulation of P21 in response to DNA damage. Required for
    FANCD2 targeting to sites of DNA damage. May function as a transcriptional regulator. Inhibits lipid synthesis by
    binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous
    recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly
    through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks.
    Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on
    DNA damage via BRCA1-mediated ubiquitination of RBBP8
    Enzyme regulation: The E3 ubiquitin-protein ligase activity is inhibited by phosphorylation by AURKA. Activity is
    increased by phosphatase treatment

         Genatlas biochemistry entry for BRCA1:
    nuclear cell cycle regulated phosphoprotein of breast epithelium,located at the centrosome during M
    phase,associating with RAD51 (RECA) at S phase of mitosis,putative negative regulator of cell growth (in a
    RB-dependent fashion),phosphorylated by ATM protein kinase in response to ionizing radiation induced DNA
    damage,then activating DNA repair through homologous recombination in cooperation with BRCA2,RAD51 and
    RAD52,P-BRCA,also complexing with RNA polymerase II holoenzyme,may also regulate transcription,recruiting CREBBP
    and interacting with components of the histone deacetylase complex,mediating ubiquitin-conjugating enzyme
    (E2)-dependent ubiquitination through the RING finger domain,induction of BRCA1 triggers JNK/SAPK (MAPK8)
    dependent apoptosis through induction of DDIT1 (GADD45)

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS9662397
    GO:0003684damaged DNA binding ----
    GO:0003713transcription coactivator activity NAS15572661
    GO:0003723RNA binding IDA12419249
    GO:0004842contributes to ubiquitin-protein ligase activity IDA17349954
         
    BRCA1 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for BRCA1:
     Decreased homologous recombina  Decreased viability of wild-ty  Decreased viability with cispl  Increased G1 DNA content 
     Increased cell death HMECs cel  Synthetic lethal with cisplati  Upregulation of Wnt/beta-caten 

         15/23 MGI mutant phenotypes (inferred from 21 alleles(MGI details for Brca1) (see all 23):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  mortality/aging  muscle 

    BRCA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BRCA1: Brca1tm2.1Cxd Brca1tm1Bhk Brca1tm1Mak Brca1tm1Rfo Brca1tm1.1Brn Brca1tm1Whl
                                                         Brca1tm1Cxd Brca1tm1Arge

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BRCA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BRCA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BRCA1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BRCA1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target BRCA1:
    hsa-mir-146a (MIRT001920), hsa-mir-24 (MIRT004836), hsa-mir-15a (MIRT003333), hsa-mir-16 (MIRT003328), hsa-mir-212 (MIRT003967)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BRCA1
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate BRCA1 (see all 30):
    hsa-miR-4291 hsa-miR-3934 hsa-miR-520d-5p hsa-miR-125a-3p hsa-miR-522 hsa-miR-944 hsa-miR-450b-3p hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidBRCA1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BRCA1 About   (see all 42)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fanconi Anemia pathway
    Fanconi's Anaemia Pathway0.43
    BARD1 signaling events0.41
    Fanconi Anemia pathway0.43
    2Cell cycle Transition and termination of DNA replacation
    Cell cycle Transition and termination of DNA replication0.95
    Cell cycle Transition and termination of DNA replacation0.95
    3Meiotic Synapsis
    Meiotic Synapsis0.70
    Meiotic Recombination0.62
    Meiosis0.70
    Chromosome Maintenance0.56
    4Homologous Recombination Repair
    Homologous recombination repair of replication-independent double-strand breaks0.71
    Homologous Recombination Repair0.71
    Double-Strand Break Repair0.71
    5Recruitment of repair and signaling proteins to double-strand breaks
    Recruitment of repair and signaling proteins to double-strand breaks0.62
    ATM mediated phosphorylation of repair proteins0.62
    ATM mediated response to DNA double-strand break0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/10 EMD Millipore Pathways for BRCA1 (see all 10)
        DNA damage ATM/ATR regulation of G1/S checkpoint
    Development VEGF signaling and activation
    Meiosis
    Cell cycle Regulation of G1/S transition (part 1)
    DNA damage DNA-damage-induced responses

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BRCA1 (see all 11)
        BRCA1 Pathway
    Molecular Mechanisms of Cancer
    JAK-STAT Pathway
    Estrogen Pathway
    DNA Damage Induced 14-3-3Sigma Signaling

    2 Cell Signaling Technology (CST) Pathways for BRCA1
        Cell Cycle / Checkpoint Control
    DNA Damage

    5/8 GeneGo (Thomson Reuters) Pathways for BRCA1 (see all 8)
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage ATM/ATR regulation of G1/S checkpoint
    DNA damage NHEJ mechanisms of DSBs repair
    Cell cycle Transition and termination of DNA replication
    Cell cycle Regulation of G1/S transition (part 1)

    5/14 BioSystems Pathways for BRCA1 (see all 14)
        DNA damage response
    Integrated Breast Cancer Pathway
    Signaling Pathways in Glioblastoma
    Androgen receptor signaling pathway
    Prostate Cancer

    5/13        Reactome Pathways for BRCA1 (see all 13)
        ATM mediated response to DNA double-strand break
    DNA Repair
    Homologous recombination repair of replication-independent double-strand breaks
    Recruitment of repair and signaling proteins to double-strand breaks
    ATM mediated phosphorylation of repair proteins


    4         Kegg Pathways  (Kegg details for BRCA1):
        Fanconi anemia pathway
    Ubiquitin mediated proteolysis
    PI3K-Akt signaling pathway
    MicroRNAs in cancer

    UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
    Pathway: Protein modification; protein ubiquitination


    BRCA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BRCA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/382 Interacting proteins for BRCA1 (P383981, 2, 3 ENSP000003502834) via UniProtKB, MINT, STRING, and/or I2D (see all 382)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BRIP1Q9BX631, 2, 3, ENSP000002590084EBI-349905,EBI-3509650 MINT-19306 MINT-19307 MINT-5115454 MINT-19369 MINT-5115319 MINT-5115375 MINT-5115552 MINT-19368 MINT-5115303 MINT-5115348 MINT-8141011 MINT-8140834 MINT-8140990 I2D: score=4 STRING: ENSP00000259008
    HIST1H4LP628052, 3, ENSP000003482584MINT-2490745 I2D: score=1 STRING: ENSP00000348258
    HIST1H4AP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4BP628052, 3MINT-2490745 I2D: score=1 
    HIST1H4CP628052, 3MINT-2490745 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/48 biological process terms (GO ID links to tree view) (see all 48):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0006260DNA replication ----
    GO:0006281DNA repair TAS--
    GO:0006301postreplication repair IDA17349954
    GO:0006302double-strand break repair TAS--

    BRCA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BRCA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BRCA1

    10/99 Novoseek inferred chemical compound relationships for BRCA1 gene (see all 99)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 70.6 284 18377656 (7), 9655254 (7), 8895509 (5), 17505062 (4) (see all 99)
    tamoxifen 57 61 11710890 (7), 18997820 (6), 11870509 (4), 11130383 (4) (see all 29)
    progesterone 56.7 72 18197009 (4), 16109739 (4), 15816544 (3), 11981002 (2) (see all 42)
    mitomycin c 36.7 20 20174566 (3), 14751517 (3), 11406561 (2), 12007633 (1) (see all 9)
    cisplatin 32.9 95 16165098 (6), 19690636 (6), 19270496 (6), 18402708 (6) (see all 31)
    indole-3-carbinol 30.2 13 16434996 (5), 10868478 (2), 16152627 (1), 19622773 (1) (see all 5)
    docetaxel 21.8 23 18402708 (4), 18591931 (3), 19002265 (3), 11400119 (2) (see all 8)
    paclitaxel 21.5 35 16639080 (5), 12717416 (4), 19697632 (3), 19690636 (3) (see all 18)
    sodium bisulfite 20.9 2 17369979 (1), 15252835 (1)
    camptothecin 18.9 10 12955088 (2), 12007633 (1), 15258697 (1), 9679765 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about BRCA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BRCA1 gene (12 alternative transcripts): 
    NM_007294.3  NM_007297.3  NM_007298.3  NM_007299.3  NM_007300.3  NM_007295.2  NM_007296.2  NM_007301.2  
    NM_007302.2  NM_007303.2  NM_007305.2  NM_007306.2  

    Unigene Cluster for BRCA1:

    Breast cancer 1, early onset
    Hs.194143  [show with all ESTs]
    Unigene Representative Sequence: NM_007300
    18/31 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31):
    ENST00000357654(uc010whl.2 uc010whm.2 uc002icp.4 uc010whp.2)
    ENST00000468300 ENST00000586385 ENST00000591534 ENST00000591849 ENST00000493795(uc010whq.1)
    ENST00000471181(uc002idc.1 uc010whr.1 uc010cyz.2 uc010cza.2 uc010wht.1)
    ENST00000461221(uc010cyy.1) ENST00000491747 ENST00000484087 ENST00000478531
    ENST00000493919 ENST00000472490 ENST00000487825 ENST00000461574 ENST00000467274(uc002idd.3 uc002ide.1)
    ENST00000412061(uc002icu.3 uc002ict.3 uc002icq.3) ENST00000470026


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BRCA1
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate BRCA1 (see all 30):
    hsa-miR-4291 hsa-miR-3934 hsa-miR-520d-5p hsa-miR-125a-3p hsa-miR-522 hsa-miR-944 hsa-miR-450b-3p hsa-miR-132
    SwitchGear 3'UTR luciferase reporter plasmidBRCA1 3' UTR sequence
    Inhib. RNA
    Products:
         
    EMD Millipore RNAi Products for the Analysis of BRCA1 Gene knock-down
    OriGene RNAi products in human, mouse, rat for BRCA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BRCA1
    Clone
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    OriGene clones in human, mouse for BRCA1 (see all 31)
    OriGene ORF clones in mouse, rat for BRCA1
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    GenScript: all cDNA clones in your preferred vector (see all 5): BRCA1 (NM_007294)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BRCA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRCA1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BRCA1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BRCA1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BRCA1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BRCA1

    Additional mRNA sequence: 

    AB621825.1 AF005068.1 AK293762.1 AK307553.1 AK308084.1 AK316200.1 AY354539.2 AY751490.1 
    BC012577.1 BC030969.1 BC038947.1 BC046142.1 BC062429.1 BC072418.1 BC085615.1 BC106745.1 
    BC106746.1 BC114511.1 BC114562.1 BC115037.1 DQ333386.1 DQ333387.1 DQ363751.1 JN686490.1 
    NR_027676.1 U14680.1 U64805.1 U68041.1 Y08864.1 

    12 DOTS entries:

    DT.313524  DT.91764293  DT.100785659  DT.100785660  DT.100785657  DT.91764294  DT.102831055  DT.120969440 
    DT.86851763  DT.91764295  DT.426829  DT.95149213 

    24/146 AceView cDNA sequences (see all 146):

    BU617173 AA086435 AU122476 BU194336 BM988066 U14680 CB155501 BU155689 
    BC046142 CB108172 BQ215100 BM755214 BM755305 AU125312 BG257190 BG681276 
    BQ683955 BQ676829 BU147444 CB158976 NM_007295 BC030969 AA486004 AL043576 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for BRCA1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a ·
    SP1:                    -                                                                                         -                                             
    SP2:                                                  -                                                           -                                             
    SP3:                                                                                                  -     -     -                                             
    SP4:                    -                                                                             -     -     -                                             
    SP5:                                                                                -     -           -     -     -                                             

    ExUns: 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
    SP1:  -                                             
    SP2:  -                                             
    SP3:  -                                             
    SP4:  -                                             
    SP5:  -                                             


    ECgene alternative splicing isoforms for BRCA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BRCA1 expression in normal human tissues (normalized intensities)      BRCA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BRCA1 Expression
    About this image


    BRCA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Gonad
             Primordial Germ Cells Primitive Gonad
     
     Smooth Muscle (Muscoskeletal System)
             Human Intestinal Smooth Muscle Cells (HISMC)   
     
     Intestine (Muscoskeletal System)
             Human Intestinal Smooth Muscle Cells (HISMC)   
     
     Testis (Reproductive System)
             Primary Spermatocyte Seminiferous Tubules
     
     Skeletal Muscle (Muscoskeletal System)
             Human Skeletal Muscle Myoblast (HSkMM)   

    See BRCA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BRCA1

    SOURCE GeneReport for Unigene cluster: Hs.194143

    UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
    Tissue specificity: Isoform 1 and isoform 3 are widely expressed. Isoform 3 is reduced or absent in several breast
    and ovarian cancer cell lines

        SABiosciences Expression via Pathway-Focused PCR Arrays including BRCA1 (see all 13): 
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRCA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BRCA1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brca11 , 5 breast cancer 11, 5 74.35(n)1
    58.11(a)1
      11 (65.18 cM)5
    121891  NM_009764.31  NP_033894.31 
     1014887645 
    chicken
    (Gallus gallus)
    Aves BRCA11 breast cancer 1, early onset 50.01(n)
    34.28(a)
      373983  NM_204169.1  NP_989500.1 
    lizard
    (Anolis carolinensis)
    Reptilia BRCA16
    --
    Uncharacterized protein
    34(a)
    28(a)
    1 ↔ 1
    possible ortholog
    6(62756363-62838799)
    6(62756363-62838799)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.121052 Xenopus laevis breast and ovarian cancer susceptibility more 79.05(n)    AF416868.1 
    zebrafish
    (Danio rerio)
    Actinopterygii btr316
    bloodthirsty-related gene family, member 31
    22(a)
    1 ↔ 1
    23(46346823-46350363)


    ENSEMBL Gene Tree for BRCA1 (if available)
    TreeFam Gene Tree for BRCA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BRCA1 gene
    18/35 SIMAP similar genes for BRCA1 using alignment to 70 protein entries:     BRCA1_HUMAN (see all proteins) (see all similar genes):
    TRIM40    LONRF1    LONRF2    LONRF3    SH3RF1    TRIM31
    RAD18    RNF138    RFWD2    TRIM64C    TRIM73    TRIM5
    HLTF    RNF168    LNX1    PDZRN4    TRIM26    TRIM64

    BRCA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: BRCA1_HUMAN, P38398
    Polymorphism: There is evidence that the presence of the rare form of Gln-356-Arg and Leu-871-Pro polymorphisms
    may be associated with an increased risk for developing ovarian cancer


    2777/3358 SNPs in BRCA1 are shown (see all 3358)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0632124
    Breast cancer (BC)4--see VAR_0632122 M K mis40--------
    VAR_0359494
    A breast cancer sample4--see VAR_0359492 G C mis40--------
    VAR_0207024
    Ovarian cancer (OC)4--see VAR_0207022 C R mis40--------
    VAR_0077584
    Breast cancer (BC)4--see VAR_0077582 C G mis40--------
    VAR_0077814
    Breast cancer (BC)4--see VAR_0077812 V A mis40--------
    VAR_0206974
    Familial breast-ovarian cancer 1 (BROVCA1)4--see VAR_0206972 R G mis40--------
    VAR_0077564
    Breast cancer (BC)4--see VAR_0077562 L S mis40--------
    VAR_0207034
    Ovarian cancer (OC)4--see VAR_0207032 R W mis40--------
    VAR_0206834
    Breast cancer (BC)4--see VAR_0206832 D Y mis40--------
    VAR_0206954
    Familial breast-ovarian cancer 1 (BROVCA1)4--see VAR_0206952 S Y mis40--------
    VAR_0359484
    A breast cancer sample4--see VAR_0359482 L F mis40--------
    VAR_0077754
    Breast cancer (BC)4--see VAR_0077752 L S mis40--------
    VAR_0359474
    A breast cancer sample4--see VAR_0359472 L F mis40--------
    VAR_0206924
    Breast cancer (BC)4--see VAR_0206922 R I mis40--------
    VAR_0206964
    Familial breast-ovarian cancer 1 (BROVCA1)4--see VAR_0206962 F L mis40--------
    VAR_0077764
    Breast cancer (BC)4--see VAR_0077762 G D mis40--------
    VAR_0077684
    Breast cancer (BC)4--see VAR_0077682 G V mis40--------
    VAR_0206794
    Familial breast-ovarian cancer 1 (BROVCA1)4--see VAR_0206792 E K mis40--------
    VAR_0206934
    Breast cancer (BC)4--see VAR_0206932 K N mis40--------
    VAR_0077664
    Breast cancer (BC)4--see VAR_0077662 Y D mis40--------
    VAR_0077994
    Breast cancer (BC)4--see VAR_0077992 M R mis40--------
    VAR_0206804
    Familial breast-ovarian cancer 1 (BROVCA1)4--see VAR_0206802 E K mis40--------
    VAR_0206904
    Familial breast-ovarian cancer 1 (BROVCA1)4--see VAR_0206902 S I mis40--------
    VAR_0077784
    Breast cancer (BC)4--see VAR_0077782 T I mis40--------
    rs288976961,2,4
    C,F,HBreast cancer (BC)4 untested142006029(-) AATTGA/C/TGGGAG 13 E A mis1 ese33NS NA 4706
    rs562141341,2,4
    C,FFamilial breast-ovarian cancer 1 (BROVCA1)4 untested142034059(-) GCTCAC/G/TGGTTA 16 H Q mis1 int11NA 4434
    rs803572721,2,4
    CBreast cancer (BC)4 untested142034211(-) AGACAC/TCTGAT 11 P S nc-transcript-variantmis1 int11Minor allele frequency- T:0.01EA 120
    rs288976831,2,4
    C,F,HBreast cancer (BC)4 non-pathogenic142035182(-) TGACAC/AAGAAG 11 /K /T mis1 int1 ese36Minor allele frequency- A:0.01EA NS NA 444
    rs560463571,2,4
    CBreast cancer (BC)4 untested142036276(-) ATATTA/TGGGAA 11 L F mis1 int10--------
    rs803572441,2,4
    CBreast cancer (BC)4 untested142036848(-) TGCATA/C/GTGGAG 16 M L V nc-transcript-variantmis1 int10--------
    rs288976721,2,4
    COvarian cancer (OC)4 other142048610(-) CACAGC/G/TGTCCT 20 R G C mis1 ese32NA 4
    rs558082331,2
    C,Fnon-pathogenic141991307(-) ATGGAT/CGGTAC 12 /T /M mis1 int11Minor allele frequency- C:0.00NA 4552
    rs17999671,2,4
    C,F,Hnon-pathogenic142013085(-) TCCATG/AGTGGT 13 /I /M mis1 ese321Minor allele frequency- A:0.01MN NS EA NA EU 8103
    rs17999661,2,4
    C,F,O,A,Hnon-pathogenic142013204(-) CCCAGA/G/TGTCCA 20 S G C mis1 ese346MN NS EA NA WA CSA EU 10303
    rs18007441,2,4
    C,Fnon-pathogenic142016598(-) GCACAG/TTTGCT 13 S I mis14Minor allele frequency- T:0.00NA EU 5871
    rs803574071,2
    Cnon-pathogenic142033623(-) ATGAAA/GAAAGA 11 K E nc-transcript-variantmis1 int10--------
    rs412934511,2
    Cnon-pathogenic142033968(-) TGTTAT/CTTGGT 11 /L /F mis1 int11Minor allele frequency- C:0.00NA 4542
    rs169421,2,4
    C,F,O,Hnon-pathogenic142034111(-) CCAGAA/GAGGAG 11 K R mis1 int1 ese3 trp348Minor allele frequency- G:0.30MN NS EA NA WA CSA EU 10133
    rs22279451,2,4
    C,F,Hnon-pathogenic142034241(-) GAAGTA/GGTCAT 11 S G mis1 int126Minor allele frequency- G:0.01MN NS EA NA WA 7314
    rs169411,2,4
    C,F,Hnon-pathogenic142034546(-) TAAAGA/GAGCCA 11 E G mis1 int133Minor allele frequency- G:0.28MN NS EA NA WA CSA EU 9308
    rs803574591,2
    Cnon-pathogenic142034576(-) TAGCCA/GTAATA 11 H R nc-transcript-variantmis1 int10--------
    rs560821131,2,4
    C,Fnon-pathogenic142035201(-) GTTCCA/GAAGAT 11 K E mis1 int12Minor allele frequency- G:0.01WA NA 4656
    rs412862981,2
    Cnon-pathogenic142035291(-) TTAGCA/GCTCTA 11 T A mis1 int11Minor allele frequency- G:0.00NA 4542
    rs49868451,2,4
    C,F,Hnon-pathogenic142035492(-) TTGTCA/GATCCT 11 N D mis1 int1 ese315Minor allele frequency- G:0.00MN NS EA NA 5916
    rs803568951,2
    Cnon-pathogenic142035653(-) ACTCAC/TGGAAG 11 T M mis1 int10--------
    rs803583291,2
    Cnon-pathogenic142035811(-) AGTCT-/TCTACCAG 7 -- nc-transcript-variantcds1 int10--------
    rs560126411,2
    Cnon-pathogenic142036011(-) TTACTA/CATAGT 11 N H mis1 int11Minor allele frequency- C:0.00EU 1315
    rs17999501,2,4
    C,F,O,Hnon-pathogenic142036592(-) TAAGCA/GGAAAC 11 Q R mis1 int126Minor allele frequency- G:0.04MN NS EA NA EU 8484
    rs558746461,2
    C,Fnon-pathogenic142036713(-) CAAGGA/GGCCAA 11 S G mis1 int11Minor allele frequency- G:0.00NA 4550
    rs803570901,2
    C,Fnon-pathogenic142039394(-) ATACCG/ATTAAT 13 /I /V mis11Minor allele frequency- A:0.00NA 4498
    rs561870331,2
    Cnon-pathogenic142041913(-) TGTCTA/GCATTG 13 Y C mis11Minor allele frequency- G:0.00EU 1323
    rs803581791,2
    Cnon-pathogenic142057909(-) TACCCC/TGCTAG 7 -- int10--------
    rs563280131,2
    Cnon-pathogenic142057916(-) CCCCCA/C/GCTACC 7 -- int10--------
    rs803580061,2
    Cnon-pathogenic142057917(-) TCCCCC/TCCTAC 7 -- int10--------
    rs803570691,2
    Cpathogenic141991292(-) GTGTGA/G/TTGCTT 18 D G V mis1 int10--------
    rs455539351,2
    Cpathogenic141999248(-) TGAAGC/G/TCAGAG 20 A G V mis11NA 2
    rs803580531,2
    Cpathogenic142009734(-) AACAGA/G/TTATAC 14 -- spd10--------
    rs801877391,2
    Cpathogenic142009735(-) AAACAA/C/G/
            
    GTATA
    27 N H D Y mis10--------
    rs803570611,2
    Cpathogenic142009743(-) TGTTAC/G/TGAAAA 20 T R M mis10--------
    rs803580861,2
    Cpathogenic142013049(-) GTGAGC/G/TGTATC 7 -- int10--------
    rs803580871,2
    Cpathogenic142013051(-) TTGTGA/C/TGTGTA 7 -- int10--------
    rs803569881,2
    Cpathogenic142016458(-) ATCTAA/C/GGTAAT 20 K Q E mis10--------
    rs803573891,2
    Cpathogenic142018615(-) GGAAAA/G/TGTAAG 20 K R M nc-transcript-variantmis10--------
    rs803580271,2
    Cpathogenic142024531(-) AAAAGA/G/TTGTGT 14 -- spd10--------
    rs803572511,2
    Cpathogenic142035024(-) ATGCAA/G/TAAGAG 16 K E * nc-transcript-variantmis1 stg1 int10--------
    rs803568751,2
    Cpathogenic142035501(-) TTAAAA/G/TAATTT 16 K E * mis1 stg1 int10--------
    rs803568981,2
    Cpathogenic142035972(-) CTATTC/TAGAAT 11 Q * stg1 int10--------
    rs803580471,2
    Cpathogenic142041900(-) TTGGGT/AAAGGG 7 -- spd11Minor allele frequency- A:0.00EU 1323
    rs803569911,2
    Cpathogenic142046259(-) AACCCA/G/TAAAAT 20 K E * mis1 stg10--------
    rs803580111,2
    Cpathogenic142046386(-) TTTACA/C/TGATGC 14 -- spa10--------
    rs803580421,2
    Cpathogenic142048578(-) AAAAGA/C/G/
            
    TATAT
    19 -- int1 spd10--------
    rs803581581,2
    Cpathogenic142048657(-) TTATAC/G/TATTTT 14 -- spa10--------
    rs49868541,2,4
    C,F,Hprobable-non-pathogenic142013158(-) TGCAAT/CGGAAG 13 /T /M mis114Minor allele frequency- C:0.00MN NS EA NA EU 6907
    rs803568761,2
    Cprobable-non-pathogenic142034002(-) AGTGAG/CGATGA 11 /D /E mis1 int11Minor allele frequency- C:0.00NA 4538
    rs803572011,2
    C,Fprobable-non-pathogenic142034363(-) TCTTCC/TTGGAA 11 P L nc-transcript-variantmis1 int12Minor allele frequency- T:0.00NA EU 5833
    rs49868471,2,4
    C,Fprobable-non-pathogenic142034886(-) TTAATA/C/GTCACT 11 I L mis1 int18MN NA 4940
    rs412863001,2
    Cprobable-non-pathogenic142035063(-) CAAAGC/TGCCAG 11 R C mis1 int13Minor allele frequency- T:0.00NA EU 1327
    rs559141681,2
    Cprobable-non-pathogenic142035308(-) TATCTC/TGTTAC 11 S L mis1 int10--------
    rs803571471,2
    C,Fprobable-non-pathogenic142035504(-) AACTTA/GAAGAA 11 K E nc-transcript-variantmis1 int11Minor allele frequency- G:0.00NA 4442
    rs288976801,2
    Cprobable-non-pathogenic142035599(-) TGAACA/CGACAA 11 Q P mis1 int1 ese32Minor allele frequency- C:0.00NA 4
    rs412862941,2
    Cprobable-non-pathogenic142036125(-) CAGGCC/TTTCAT 11 L F mis1 int10--------
    rs560567111,2
    Cprobable-non-pathogenic142036554(-) CTGAAA/GATGTT 11 N D mis1 int10--------
    rs803570881,2
    Cprobable-non-pathogenic142037983(-) ATTCTG/TCAAAA 13 A S mis10--------
    rs803581331,2
    Cprobable-non-pathogenic142039363(-) AGTCAA/GAGAGA 7 -- int10--------
    rs288976741,2,4
    Cprobable-non-pathogenic142041992(-) GTCTCA/CGTGTC 13 S R mis1 ese32Minor allele frequency- C:0.00NA 4
    rs803581131,2
    Cprobable-non-pathogenic142046984(-) TAAGTA/GTTGAA 7 -- int10--------
    rs803569941,2
    Cprobable-non-pathogenic142066202(-) CTCTTC/TGCGTT 12 R C mis1 ut510--------
    rs803569591,2
    Cprobable-pathogenic141987890(-) GAGAGC/G/TGGGTG 19 R G W mis1 ut310--------
    rs803568601,2,4
    Cprobable-pathogenic142006035(-) TCTAGA/C/GAATTG 20 E A G mis10--------
    rs412934591,2
    Cprobable-pathogenic142006056(-) TGAACA/C/G/
            
    GACAC
    27 Q P R L mis12NA 4
    rs803569291,2
    Cprobable-pathogenic142066168(-) TGCTAA/C/TGCAGA 19 K T M mis1 ut510--------
    rs455698321,2
    Cuntested141256103(-) TTCTTC/TTTTTC 7 -- int10--------
    rs1894421831,2
    Cuntested141987701(+) GCCAGA/C/GACAGT 7 -- nc-transcript-variantut31 ds50010--------
    rs30929951,2
    C,F,Huntested141987771(-) GACCCC/GAAGAA 7 -- ut31 ds5001 nc-transcript-variantese314Minor allele frequency- G:0.03NS EA NA CSA WA 1148
    rs803569421,2
    Cuntested141987893(-) CCCGAA/G/TAGTGG 19 K E * mis1 stg1 ut310--------
    rs412934651,2
    Cuntested141987896(-) TGACCC/TGAGAG 12 R * stg1 ut312Minor allele frequency- T:0.00NA 4
    rs81763161,2
    C,F,Huntested141987941(-) GTTCTC/ATGTCT 7 -- int17Minor allele frequency- A:0.01NS NA EU 2011
    rs803580091,2
    Cuntested141989769(-) CATGGC/G/TAAGGT 14 -- spd10--------
    rs803572861,2
    Cuntested141989782(-) GGACAA/GTGGCT 13 N S Q nc-transcript-variantmis1 syn10--------
    rs288976981,2
    Cuntested141989813(-) TTGTGG/TTTGTG 13 V F G mis10--------
    rs803569201,2
    Cuntested141989827(-) GGGTGA/TCCACC 13 D V * C mis1 stg10--------
    rs803580291,2
    Cuntested141989832(-) ATCCAA/C/GGGTGT 14 -- spa10--------
    rs803580021,2
    Cuntested141989833(-) GATCCA/G/TGGGTG 14 -- spa10--------
    rs803573241,2
    Cuntested141993206(-) CCTTCA/TCCAAC 13 T S nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4552
    rs803570251,2
    Cuntested141993211(-) TGGGCC/G/TCTTCA 20 P R L mis10--------
    rs803580991,2
    Cuntested141993246(-) TTCCAA/G/TATCTT 14 -- spa10--------
    rs803581051,2
    Cuntested141993259(-) TCTTCC/GTCTCT 7 -- int10--------
    rs803581071,2
    Cuntested141999100(-) GGGCCG/ACTTCA 7 -- int11Minor allele frequency- A:0.50NA 2
    rs2739017581,2
    Cuntested141999101(-) TGGGCA/C/TGCTTC 7 -- int10--------
    rs2739017571,2
    Cuntested141999117(-) CTCCC-/GTATTCCACTC
    C
    /GTATTCCACTTC
    CTTTG
    7 -- int1 cds10--------
    rs803574421,2
    Cuntested141999203(-) AAAGCA/C/GAGCAA 20 Q P R nc-transcript-variantmis10--------
    rs561953421,2
    C,Funtested142005494(-) GGGTGA/GCCCAG 13 T A mis11Minor allele frequency- G:0.00NA 4544
    rs803572391,2
    Cuntested142005498(-) TTAGGA/G/TGTGAC 20 * W C nc-transcript-variantstg1 mis10--------
    rs412934611,2
    Cuntested142005499(-) TTTAGA/C/GGGTGA 20 * S W stg1 mis11NA 2
    rs803570941,2
    Cuntested142006007(-) GTTAGA/C/GTATTT 20 R S mis10--------
    rs454449991,2
    Cuntested142006008(-) AGTTAG/ACTATT 13 /N /S mis11Minor allele frequency- A:0.00NA 2
    rs803572221,2
    Cuntested142006009(-) TAGTTA/C/TGCTAT 20 S R C nc-transcript-variantmis10--------
    rs803568581,2
    Cuntested142006039(-) ATTTTC/G/TTAGGA 20 L V mis1 syn11EU 1321
    rs557708101,2
    Cuntested142006057(-) GTGAAC/TGGACA 13 R W mis11Minor allele frequency- T:0.00NA 4540
    rs18007471,2
    Cuntested142006078(-) CTGCAA/C/GATGCT 14 -- spa10--------
    rs803580661,2
    Cuntested142006079(-) TCTGCA/C/TGATGC 14 -- spa10--------
    rs81762581,2
    C,F,Huntested142006130(-) CAGCAC/TTTCCT 7 -- int16Minor allele frequency- T:0.02NS EA NA 684
    rs803580321,2
    Cuntested142009729(-) GTATAC/GCAAGA 7 -- int10--------
    rs803580351,2
    Cuntested142009842(-) AATGGA/GATATT 7 -- int10--------
    rs81762341,2
    C,F,A,Huntested142009890(-) GGTGGA/GATAAC 7 -- int116Minor allele frequency- G:0.29NS EA NA WA CSA 961
    rs81762331,2
    C,Funtested142009914(-) GCTACA/GTAGGT 7 -- int112Minor allele frequency- G:0.30NS NA WA CSA EA 548
    rs288976951,2,4
    Cuntested142013056(-) AGAATC/G/TTGTGA 13 S F mis12NA 4
    rs709536611,2
    Cuntested142013107(-) AGAAAC/G/TGGTCA 13 R M mis10--------
    rs18007261,2,4
    Cuntested142013120(-) TGACAA/C/GCTTCA 13 T A mis12NA 4
    rs803574651,2
    Cuntested142013159(-) ATGCAA/GTGGAA 13 M V nc-transcript-variantmis11Minor allele frequency- G:0.00NA 4550
    rs709536601,2
    C,Funtested142013201(-) AGAGTC/TCAGCT 13 P S mis11Minor allele frequency- T:0.00NA 4552
    rs803568331,2
    C,Funtested142013228(-) CCCAAC/G/TTGAAA 20 L V syn1 mis11NA 4552
    rs288976931,2
    C,Funtested142013229(-) CCCCAA/GTTGAA 13 Q syn12Minor allele frequency- G:0.00NA EU 5875
    rs561192781,2
    C,Funtested142013350(-) TTACCT/CGGAAT 13 /P /L mis11Minor allele frequency- C:0.00NA 4540
    rs561587471,2,4
    C,Funtested142013359(-) GGGAAC/TCCCTT 13 T I mis11Minor allele frequency- T:0.00NA 4528
    rs288976911,2
    C,F,Huntested142016497(-) CACACA/G/TATTTG 20 N D Y mis1 ese311NS EA NA 5762
    rs412934571,2
    Cuntested142016508(-) AGAGTC/GTGGGC 13 S C mis10--------
    rs558156491,2
    C,Funtested142016533(-) TTGATG/ATGGAG 13 /M /V mis11Minor allele frequency- A:0.00NA 4550
    rs803569531,2
    Cuntested142016646(-) TAGGTA/C/GATCCC 20 * S stg10--------
    rs803580221,2
    C,Funtested142018601(-) CATCAA/GTGTAA 7 -- int11Minor allele frequency- G:0.02EA 120
    rs803571481,2
    Cuntested142018619(-) GAGTGA/G/TAAAGG 20 K E * nc-transcript-variantmis1 stg11NA 4542
    rs803570751,2
    Cuntested142018689(-) CCAGAA/TGGCCT 13 E D mis10--------
    rs37375591,2
    C,F,Huntested142024415(-) ACATGG/AGTAAT 7 -- int135Minor allele frequency- A:0.08EA NS NA WA 4916
    rs803568401,2
    Cuntested142024542(-) AGCACA/GTCAGA 13 T syn10--------
    rs803574861,2
    Cuntested142024547(-) AACAAA/GGCACA 13 S G nc-transcript-variantmis10--------
    rs49868491,2,4
    C,F,Huntested142024561(-) CCTGCG/AAAATC 13 /Q /R mis1 ese317Minor allele frequency- A:0.01MN NS EA NA 1780
    rs10609151,2
    C,F,Huntested142024581(-) GACTCT/CTCTGC 13 /S syn1 ese344Minor allele frequency- C:0.29MN NS NA EA WA CSA EU 10122
    rs412934531,2
    Cuntested142024644(-) CTAGAA/GGCTGT 13 E syn11Minor allele frequency- G:0.00NA 4550
    rs803569721,2
    Cuntested142033073(-) CACTCA/GGGTAA 13 Q R mis10--------
    rs789516481,2
    Cuntested142033091(+) TGTCAC/TTCTGA 13 N S mis11Minor allele frequency- T:0.01EA 120
    rs288976901,2
    Cuntested142033125(-) CAAGCG/ATCTCT 13 /I /V mis1 ese31Minor allele frequency- A:0.00NA 4536
    rs558480341,2
    Cuntested142033142(-) TGGGTA/GTGAGA 13 Y C mis10--------
    rs7999161,2
    C,F,A,Huntested142033301(-) AATCCA/CGGTGT 7 -- int142Minor allele frequency- C:0.49NS MN NA EA WA CSA 4093
    rs803572021,2
    Cuntested142033605(-) GCTTGA/GAAGAA 11 K E nc-transcript-variantmis1 int10--------
    rs803573451,2
    Cuntested142033613(-) AGGAAC/TGGGCT 11 T M nc-transcript-variantmis1 int11Minor allele frequency- T:0.00NA 4546
    rs556398541,2
    Cuntested142033628(-) AGATGA/GTGAAG 11 D G mis1 int10--------
    rs803572131,2
    Cuntested142033781(-) TTCTGA/C/TTAGCT 16 D A V nc-transcript-variantmis1 int11NA 4550
    rs803574831,2
    Cuntested142033817(-) ATCTCA/CGGAAC 11 Q P nc-transcript-variantmis1 int10--------
    rs803570361,2
    Cuntested142033824(-) CAAAGA/GCATCT 11 T A mis1 int10--------
    rs803572691,2
    Cuntested142033874(-) ATTATA/C/TATTGA 16 * S L nc-transcript-variantstg1 mis1 int10--------
    rs803568311,2
    Cuntested142033876(-) TTATTA/G/TTCATT 16 L F syn1 mis1 int11EU 1323
    rs803570991,2
    Cuntested142033913(-) TGCTAC/GCGAGT 11 T S mis1 int10--------
    rs803571911,2
    Cuntested142033920(-) GCACCA/GTTGCT 11 I V nc-transcript-variantmis1 int10--------
    rs288976871,2,4
    C,F,Huntested142033951(-) AACAAT/GATACC 11 /K /N mis1 int18Minor allele frequency- G:0.01EA NS NA 846
    rs803573101,2
    Cuntested142033998(-) AGGATG/TAAGAG 11 E * nc-transcript-variantstg1 int11Minor allele frequency- T:0.00NA 4540
    rs803568941,2
    Cuntested142034007(-) TATCTA/G/TGTGAG 11 S C mis1 int11NA 4540
    rs2739007121,2
    Cuntested142034010(-) ACTTAC/TCTAGT 11 P S nc-transcript-variantmis1 int10--------
    rs803569231,2
    Cuntested142034019(-) CAGAAA/G/TAGAAC 16 K E * mis1 stg1 int10--------
    rs559309591,2
    Cuntested142034051(-) TTACCA/GAAGAG 11 Q R mis1 int10--------
    rs557253371,2
    Cuntested142034058(-) CTCAGA/GGTTAC 11 S G mis1 int10--------
    rs626253071,2
    Cuntested142034061(-) TGGCTC/TAGGGT 11 Q * stg1 int10--------
    rs803569441,2
    Cuntested142034072(-) CCATAA/C/TACATT 16 K T I mis1 int10--------
    rs563369191,2
    Cuntested142034118(-) AAAGCA/GTCCAG 11 I V mis1 int10--------
    rs803569181,2
    Cuntested142034171(-) AGATAC/TTAGTT 11 T I mis1 int10--------
    rs803569491,2
    Cuntested142034304(-) TTCAGA/TCTGTT 11 T S mis1 int10--------
    rs559094001,2
    Cuntested142034313(-) AAGAAC/GTAGTT 11 L V mis1 int10--------
    rs412934491,2
    Cuntested142034332(-) ATAAAA/C/GAAGCA 11 K syn1 int10--------
    rs803569001,2
    Cuntested142034354(-) AAGTAA/GTTGTA 11 N S mis1 int10--------
    rs412934471,2
    Cuntested142034357(-) TGGAAG/ATAATT 11 /N /S mis1 int11Minor allele frequency- A:0.00NA 4500
    rs803570061,2
    Cuntested142034402(-) TAGATA/C/G/
            
    AGGGG
    21 * S L stg1 mis1 int10--------
    rs803571841,2
    Cuntested142034480(-) TAATGA/CAATAG 11 E A nc-transcript-variantmis1 int11Minor allele frequency- C:0.00NA 4524
    rs803568991,2
    Cuntested142034516(-) AGTAGA/G/TTTCCA 16 D G V mis1 int11NA 4522
    rs803569331,2
    Cuntested142034619(-) GAGAAA/G/TTGGGA 16 M V L mis1 int10--------
    rs563211291,2
    C,Funtested142034637(-) ATTCAA/GTGTCA 11 M V mis1 int11Minor allele frequency- G:0.00NA 4430
    rs803568721,2
    Cuntested142034738(-) ACTTTA/C/TACAAA 16 * S L stg1 mis1 int10--------
    rs803568511,2
    C,Funtested142034845(-) AAGCCA/GGTTGA 11 P syn1 int12Minor allele frequency- G:0.00WA NA 4654
    rs18007401,2
    C,Funtested142034926(-) CAAGGA/GAAGAA 11 G syn1 int1 trp38Minor allele frequency- G:0.00MN NA EU 6447
    rs803569781,2
    Cuntested142034937(-) AGGAAG/TAAAAT 11 E * stg1 int10--------
    rs7999171,2,4
    C,F,A,Huntested142035047(-) TGCTCA/C/TGTTTT 16 Q P L mis1 int142EA MN NS NA WA CSA EU 11110
    rs803568321,2
    Cuntested142035091(-) CAGTAC/G/TTTGCA 16 Y * syn1 stg1 int10--------
    rs803568921,2,4
    Cuntested142035093(-) CTCAGC/TATTTG 11 H Y mis1 int10--------
    rs288976821,2
    Cuntested142035231(-) TTGAAA/TACCCC 11 N Y mis1 int1 ese30--------
    rs557465411,2
    C,Funtested142035247(-) AGTCAG/CTGTGC 11 /H /Q mis1 int11Minor allele frequency- C:0.00NA 4544
    rs803569451,2
    Cuntested142035321(-) GCACTA/C/TAGGAA 16 K Q * mis1 stg1 int10--------
    rs169401,2
    C,F,O,Huntested142035348(-) TTTCAT/CTGGTA 11 /L syn1 int1 ese340Minor allele frequency- C:0.28EA MN NS NA WA CSA EU 10944
    rs803570631,2
    Cuntested142035350(-) TATTTA/C/TATTGG 16 * S L stg1 mis1 int10--------
    rs412862961,2
    Cuntested142035396(-) GTGGAG/TAAAGG 11 E * stg1 int12Minor allele frequency- T:0.00NA 4
    rs49868461,2
    C,Funtested142035427(-) AATGCT/CGAAGA 11 /A syn1 int1 ese37Minor allele frequency- C:0.00MN CSA NA 4936
    rs803570511,2
    Cuntested142035437(-) AGTGTC/G/TTAATA 16 S C F mis1 int10--------
    rs563295981,2
    Cuntested142035444(-) CAGTTA/G/TAAGTG 11 K * stg1 int10--------
    rs803571921,2
    Cuntested142035539(-) ACCTGA/GTTCTT 11 D G nc-transcript-variantmis1 int10--------
    rs49868441,2
    C,Funtested142035550(-) TTAACA/GAATGC 11 T syn1 int17Minor allele frequency- G:0.00MN CSA NA 4930
    rs288976811,2
    Cuntested142035576(-) ACAGCA/G/TATACT 16 N D Y mis1 int10--------
    rs17999491,2
    C,F,O,Huntested142035577(-) GACAGC/TGATAC 11 S syn1 int1 ese337Minor allele frequency- T:0.30EA MN NS NA WA CSA EU 9669
    rs49868501,2,4
    C,F,Huntested142035582(-) GACATA/G/TACAGC 16 N D Y mis1 int1 ese328MN NS EA NA EU 8926
    rs556784611,2
    Cuntested142035685(-) CAAATG/CCCAGT 11 /I /M mis1 int11Minor allele frequency- C:0.00NA 4536
    rs288976791,2
    C,Funtested142035688(-) AACCAA/GATGCC 11 Q syn1 int12Minor allele frequency- G:0.01CSA NA 4536
    rs803569071,2
    Cuntested142035714(-) GTGAAC/G/TAGATA 16 Q E * mis1 stg1 int10--------
    rs626253051,2
    Cuntested142035748(-) TGTACC/TGAATT 11 T syn1 int10--------
    rs803569021,2
    Cuntested142035762(-) TAAGCA/C/TCACCT 16 T P S mis1 int10--------
    rs803568381,2
    Cuntested142035778(-) GTAGTC/GAGTAG 11 V syn1 int10--------
    rs803569501,2
    Cuntested142035789(-) CGCTTA/G/TAACTA 16 K E * mis1 stg1 int10--------
    rs18000641,2
    Cuntested142035793(-) CATGCG/TCTTGA 11 A syn1 int10--------
    rs560391261,2
    Cuntested142035794(-) TCATGC/TGCTTG 11 A V mis1 int10--------
    rs803571181,2
    Cuntested142035866(-) CGAATA/G/TAAATA 16 * L nc-transcript-variantstg1 int10--------
    rs803573711,2
    Cuntested142035873(-) TGGAAC/G/TTCGAA 11 L V nc-transcript-variantmis1 int10--------
    rs803569281,2
    Cuntested142035912(-) AAACGA/G/TAAGCT 11 K * stg1 int11NA 4490
    rs803569101,2
    Cuntested142035956(-) AAATCC/G/TTAACC 16 P R L mis1 int10--------
    rs803573741,2
    Cuntested142036043(-) CCAAAC/TGGAGC 11 T M nc-transcript-variantmis1 int11Minor allele frequency- T:0.00NA 4506
    rs803572731,2
    Cuntested142036086(-) TGGCAA/GTTCAA 11 I V nc-transcript-variantmis1 int10--------
    rs803571221,2
    Cuntested142036098(-) AGAAAG/ACAGAT 11 /T /A nc-transcript-variantmis1 int11Minor allele frequency- A:0.00NA 4528
    rs562725391,2
    Cuntested142036148(-) AAAGCA/GTAAAA 11 H R mis1 int10--------
    rs803574451,2
    Cuntested142036149(-) TAAAGC/TGTAAA 11 R C nc-transcript-variantmis1 int11Minor allele frequency- T:0.00NA 4544
    rs626253041,2
    Cuntested142036151(-) ATTAAA/GGCGTA 11 K R mis1 int10--------
    rs288976761,2
    Cuntested142036173(-) AAGAGA/C/TGTCCC 16 S R C mis1 int1 ese31NA 4546
    rs626253031,2
    Cuntested142036188(-) AGCCAC/TAGATA 11 Q * stg1 int10--------
    rs559069311,2
    Cuntested142036203(-) GAGCAT/CTTGTT 11 /L /F mis1 int11Minor allele frequency- C:0.00EU 1323
    rs557201771,2
    C,Funtested142036232(-) AAGCCA/GTGTAA 11 H R mis1 int11Minor allele frequency- G:0.00NA 4550
    rs803570571,2
    Cuntested142036241(-) CCCCAA/G/TCTTAA 16 N S I mis1 int10--------
    rs803569641,2
    Cuntested142036263(-) CCTATC/G/TGGAAG 16 R G W mis1 int10--------
    rs626253011,2
    Cuntested142036268(-) GAAAAC/TCTATC 11 T I mis1 int10--------
    rs803572211,2
    Cuntested142036275(-) TATTTA/GGGAAA 11 R G nc-transcript-variantmis1 int10--------
    rs626253001,2
    Cuntested142036278(-) AAATAC/TTTGGG 11 L F mis1 int10--------
    rs803571811,2
    Cuntested142036298(-) AGAGAA/GTAATA 11 N S nc-transcript-variantmis1 int10--------
    rs803568911,2
    Cuntested142036307(-) CAAATA/C/GAGTAG 16 * S stg1 int10--------
    rs803569151,2
    Cuntested142036326(-) AAAGTC/G/TAAAGA 16 Q E * mis1 stg1 int10--------
    rs803574881,2
    Cuntested142036401(-) AGGTAG/TATGAA 11 D Y nc-transcript-variantmis1 int10--------
    rs561282961,2,4
    C,Funtested142036522(-) AGCATT/GCAGAA 11 /M /I mis1 int12Minor allele frequency- G:0.00WA NA 4664
    rs412862921,2
    Cuntested142036594(-) AATAAA/GCAGAA 11 K syn1 int10--------
    rs797276591,2
    Cuntested