Patent Publication Number: US-2003224413-A1

Title: Nucleic acids containing single nucleotide polymorphisms and methods of use thereof

Description:
RELATED APPLICATIONS  
     [0001] This application is a continuation of U.S. Ser. No. 09/442,129, filed Nov. 16, 1999, which claims priority to U.S. Ser. No. 60/109,024, filed Nov. 17, 1998. The contents of this application are incorporated by reference in their entirety. 
    
    
     
       BACKGROUND OF THE INVENTION  
       [0002] Sequence polymorphism-based analysis of nucleic acid sequences can augment or replace previously known methods for determining the identity and relatedness of individuals. The approach is generally based on alterations in nucleic acid sequences between related individuals. This analysis has been widely used in a variety of genetic, diagnostic, and forensic applications. For example, polymorphism analyses are used in identity and paternity analysis, and in genetic mapping studies.  
       [0003] One such type of variation is a restriction fragment length polymorphism (RFLP). RFLPS can create or delete a recognition sequence for a restriction endonuclease in one nucleic acid relative to a second nucleic acid. The result of the variation is in an alteration the relative length of restriction enzyme generated DNA fragments in the two nucleic acids.  
       [0004] Other polymorphisms take the form of short tandem repeats (STR) sequences, which are also referred to as variable numbers of tandem repeat (VNTR) sequences. STR sequences typically that include tandem repeats of 2, 3, or 4 nucleotide sequences that are present in a nucleic acid from one individual but absent from a second, related individual at the corresponding genomic location.  
       [0005] Other polymorphisms take the form of single nucleotide variations, termed single nucleotide polymorphisms (SNPs), between individuals. A SNP can, in some instances, be referred to as a “cSNP” to denote that the nucleotide sequence containing the SNP originates as a cDNA.  
       [0006] SNPs can arise in several ways. A single nucleotide polymorphism may arise due to a substitution of one nucleotide for another at the polymorphic site. Substitutions can be transitions or transversions. A transition is the replacement of one purine nucleotide by another purine nucleotide, or one pyrimidine by another pyrimidine. A transversion is the replacement of a purine by a pyrimidine, or the converse.  
       [0007] Single nucleotide polymorphisms can also arise from a deletion of a nucleotide or an insertion of a nucleotide relative to a reference allele. Thus, the polymorphic site is a site at which one allele bears a gap with respect to a single nucleotide in another allele. Some SNPs occur within, or near genes. One such class includes SNPs falling within regions of genes encoding for a polypeptide product. These SNPs may result in an alteration of the amino acid sequence of the polypeptide product and give rise to the expression of a defective or other variant protein. Such variant products can, in some cases result in a pathological condition, e.g., genetic disease. Examples of genes in which a polymorphism within a coding sequence gives rise to genetic disease include sickle cell anemia and cystic fibrosis. Other SNPs do not result in alteration of the polypeptide product. Of course, SNPs can also occur in noncoding regions of genes.  
       [0008] SNPs tend to occur with great frequency and are spaced uniformly throughout the genome. The frequency and uniformity of SNPs means that there is a greater probability that such a polymorphism will be found in close proximity to a genetic locus of interest.  
       SUMMARY OF THE INVENTION  
       [0009] The invention is based in part on the discovery of novel single nucleotide polymorphisms (SNPs) in regions of human DNA.  
       [0010] Accordingly, in one aspect, the invention provides an isolated polynucleotide which includes one or more of the SNPs described herein. The polynucleotide can be, e.g., a nucleotide sequence which includes one or more of the polymorphic sequences shown in Table 1 (SEQ ID NOS: 1-217) and which includes a polymorphic sequence, or a fragment of the polymorphic sequence, as long as it includes the polymorphic site. The polynucleotide may alternatively contain a nucleotide sequence which includes a sequence complementary to one or more of the sequences (SEQ ID NOS: 1-217), or a fragment of the complementary nucleotide sequence, provided that the fragment includes a polymorphic site in the polymorphic sequence.  
       [0011] The polynucleotide can be, e.g., DNA or RNA, and can be between about 10 and about 100 nucleotides, e.g, 10-90, 10-75, 10-51, 10-40, or 10-30, nucleotides in length.  
       [0012] In some embodiments, the polymorphic site in the polymorphic sequence includes a nucleotide other than the nucleotide listed in Table 1, column 5 for the polymorphic sequence, e.g., the polymorphic site includes the nucleotide listed in Table 1, column 6 for the polymorphic sequence.  
       [0013] In other embodiments, the complement of the polymorphic site includes a nucleotide other than the complement of the nucleotide listed in Table 1, column 5 for the complement of the polymorphic sequence, e.g., the complement of the nucleotide listed in Table 1, column 6 for the polymorphic sequence.  
       [0014] In some embodiments, the polymorphic sequence is associated with a polypeptide related to one of the protein families disclosed herein. For example, the nucleic acid may be associated with a polypeptide related to an ATPase associated, cadherin, or any of the other proteins identified in Table 1, column 10.  
       [0015] In another aspect, the invention provides an isolated allele-specific oligonucleotide that hybridizes to a first polynucleotide containing a polymorphic site. The first polynucleotide can be, e.g., a nucleotide sequence comprising one or more polymorphic sequences (SEQ ID NOS: 1-217), provided that the polymorphic sequence includes a nucleotide other than the nucleotide recited in Table 1, column 5 for the polymorphic sequence. Alternatively, the first polynucleotide can be a nucleotide sequence that is a fragment of the polymorphic sequence, provided that the fragment includes a polymorphic site in the polymorphic sequence, or a complementary nucleotide sequence which includes a sequence complementary to one or more polymorphic sequences (SEQ ID NOS: 1-217), provided that the complementary nucleotide sequence includes a nucleotide other than the complement of the nucleotide recited in Table 1, column 5. The first polynucleotide may in addition include a nucleotide sequence that is a fragment of the complementary sequence, provided that the fragment includes a polymorphic site in the polymorphic sequence.  
       [0016] In some embodiments, the oligonucleotide does not hybridize under stringent conditions to a second polynucleotide. The second polynucleotide can be, e.g., (a) a nucleotide sequence comprising one or more polymorphic sequences (SEQ ID NOS: 1-217), wherein the polymorphic sequence includes the nucleotide listed in Table 1, column 5 for the polymorphic sequence; (b) a nucleotide sequence that is a fragment of any of the polymorphic sequences; (c) a complementary nucleotide sequence including a sequence complementary to one or more polymorphic sequences (SEQ ID NOS: 1-217), wherein the polymorphic sequence includes the complement of the nucleotide listed in Table 1, column 5; and (d) a nucleotide sequence that is a fragment of the complementary sequence, provided that the fragment includes a polymorphic site in the polymorphic sequence.  
       [0017] The oligonucleotide can be, e.g., between about 10 and about 100 bases in length. In some embodiments, the oligonucleotide is between about 10 and 75 bases, 10 and 51 bases, 10 and about 40 bases, or about 15 and 30 bases in length.  
       [0018] The invention also provides a method of detecting a polymorphic site in a nucleic acid. The method includes contacting the nucleic acid with an oligonucleotide that hybridizes to a polymorphic sequence selected from the group consisting of SEQ ID NOS: 1-217, or its complement, provided that the polymorphic sequence includes a nucleotide other than the nucleotide recited in Table 1, column 5 for the polymorphic sequence, or the complement includes a nucleotide other than the complement of the nucleotide recited in Table 1, column 5. The method also includes determining whether the nucleic acid and the oligonucleotide hybridize. Hybridization of the oligonucleotide to the nucleic acid sequence indicates the presence of the polymorphic site in the nucleic acid.  
       [0019] In preferred embodiments, the oligonucleotide does not hybridize to the polymorphic sequence when the polymorphic sequence includes the nucleotide recited in Table 1, column 5 for the polymorphic sequence, or when the complement of the polymorphic sequence includes the complement of the nucleotide recited in Table 1, column 5 for the polymorphic sequence.  
       [0020] The oligonucleotide can be, e.g., between about 10 and about 100 bases in length. In some embodiments, the oligonucleotide is between about 10 and 75 bases, 10 and 51 bases, 10 and about 40 bases, or about 15 and 30 bases in length.  
       [0021] In some embodiments, the polymorphic sequence identified by the oligonucleotide is associated with a polypeptide related to one of the protein families disclosed herein. For example, the nucleic acid may be associated polypeptide related to an ATPase associated protein, cadherin, or any of the other protein families identified in Table 1, column 10.  
       [0022] In another aspect, the method includes determining if a sequence polymorphism is the present in a subject, such as a human. The method includes providing a nucleic acid from the subject and contacting the nucleic acid with an oligonucleotide that hybridizes to a polymorphic sequence selected from the group consisting of SEQ ID NOS: 1-217, or its complement, provided that the polymorphic sequence includes a nucleotide other than the nucleotide recited in Table 1, column 5 for said polymorphic sequence, or the complement includes a nucleotide other than the complement of the nucleotide recited in Table 1, column 5. Hybridization between the nucleic acid and the oligonucleotide is then determined. Hybridization of the oligonucleotide to the nucleic acid sequence indicates the presence of the polymorphism in said subject.  
       [0023] In a further aspect, the invention provides a method of determining the relatedness of a first and second nucleic acid. The method includes providing a first nucleic acid and a second nucleic acid and contacting the first nucleic acid and the second nucleic acid with an oligonucleotide that hybridizes to a polymorphic sequence selected from the group consisting of SEQ ID NOS: 1-217, or its complement, provided that the polymorphic sequence includes a nucleotide other than the nucleotide recited in Table 1, column 5 for the polymorphic sequence, or the complement includes a nucleotide other than the complement of the nucleotide recited in Table 1, column 5. The method also includes determining whether the first nucleic acid and the second nucleic acid hybridize to the oligonucleotide, and comparing hybridization of the first and second nucleic acids to the oligonucleotide. Hybridization of first and second nucleic acids to the nucleic acid indicates the first and second subjects are related.  
       [0024] In preferred embodiments, the oligonucleotide does not hybridize to the polymorphic sequence when the polymorphic sequence includes the nucleotide recited in Table 1, column 5 for the polymorphic sequence, or when the complement of the polymorphic sequence includes the complement of the nucleotide recited in Table 1, column 5 for the polymorphic sequence.  
       [0025] The oligonucleotide can be, e.g., between about 10 and about 100 bases in length. In some embodiments, the oligonucleotide is between about 10 and 75 bases, 10 and 51 bases, 10 and about 40 bases, or about 15 and 30 bases in length.  
       [0026] The method can be used in a variety of applications. For example, the first nucleic acid may be isolated from physical evidence gathered at a crime scene, and the second nucleic acid may be obtained is a person suspected of having committed the crime. Matching the two nucleic acids using the method can establishing whether the physical evidence originated from the person.  
       [0027] In another example, the first sample may be from a human male suspected of being the father of a child and the second sample may be from the child. Establishing a match using the described method can establish whether the male is the father of the child.  
       [0028] In another aspect, the invention provides an isolated polypeptide comprising a polymorphic site at one or more amino acid residues, and wherein the protein is encoded by a polynucleotide including one of the polymorphic sequences SEQ ID NOS: 1-217, or their complement, provided that the polymorphic sequence includes a nucleotide other than the nucleotide recited in Table 1, column 5 for the polymorphic sequence, or the complement includes a nucleotide other than the complement of the nucleotide recited in Table 1, column 5.  
       [0029] The polypeptide can be, e.g., related to one of the protein families disclosed herein. For example, polypeptide can be related to an ATPase associated protein, cadherin, or any of the other proteins provided in Table 1, column 10.  
       [0030] In some embodiments, the polypeptide is translated in the same open reading frame as is a wild type protein whose amino acid sequence is identical to the amino acid sequence of the polymorphic protein except at the site of the polymorphism.  
       [0031] In some embodiments, the polypeptide encoded by the polymorphic sequence, or its complement, includes the nucleotide listed in Table 1, column 6 for the polymorphic sequence, or the complement includes the complement of the nucleotide listed in Table 1, column 6.  
       [0032] The invention also provides an antibody that binds specifically to a polypeptide encoded by a polynucleotide comprising a nucleotide sequence encoded by a polynucleotide selected from the group consisting of polymorphic sequences SEQ ID NOS: 1-217, or its complement. The polymorphic sequence includes a nucleotide other than the nucleotide recited in Table 1, column 5 for the polymorphic sequence, or the complement includes a nucleotide other than the complement of the nucleotide recited in Table 1, column 5.  
       [0033] In some embodiments, the antibody binds specifically to a polypeptide encoded by a polymorphic sequence which includes the nucleotide listed in Table 1, column 6 for the polymorphic sequence.  
       [0034] Preferably, the antibody does not bind specifically to a polypeptide encoded by a polymorphic sequence which includes the nucleotide listed in Table 1, column 5 for the polymorphic sequence.  
       [0035] The invention further provides a method of detecting the presence of a polypeptide having one or more amino acid residue polymorphisms in a subject. The method includes providing a protein sample from the subject and contacting the sample with the above-described antibody under conditions that allow for the formation of antibody-antigen complexes. The antibody-antigen complexes are then detected. The presence of the complexes indicates the presence of the polypeptide.  
       [0036] The invention also provides a method of treating a subject suffering from, at risk for, or suspected of, suffering from a pathology ascribed to the presence of a sequence polymorphism in a subject, e.g., a human, non-human primate, cat, dog, rat, mouse, cow, pig, goat, or rabbit. The method includes providing a subject suffering from a pathology associated with aberrant expression of a first nucleic acid comprising a polymorphic sequence selected from the group consisting of SEQ ID NOS: 1-217, or its complement, and treating the subject by administering to the subject an effective dose of a therapeutic agent. Aberrant expression can include qualitative alterations in expression of a gene, e.g., expression of a gene encoding a polypeptide having an altered amino acid sequence with respect to its wild-type counterpart. Qualitatively different polypeptides can include, shorter, longer, or altered polypeptides relative to the amino acid sequence of the wild-type polypeptide. Aberrant expression can also include quantitative alterations in expression of a gene. Examples of quantitative alterations in gene expression include lower or higher levels of expression of the gene relative to its wild-type counterpart, or alterations in the temporal or tissue-specific expression pattern of a gene. Finally, aberrant expression may also include a combination of qualitative and quantitative alterations in gene expression.  
       [0037] The therapeutic agent can include, e.g., second nucleic acid comprising the polymorphic sequence, provided that the second nucleic acid comprises the nucleotide present in the wild type allele. In some embodiments, the second nucleic acid sequence comprises a polymorphic sequence which includes nucleotide listed in Table 1, column 5 for the polymorphic sequence.  
       [0038] Alternatively, the therapeutic agent can be a polypeptide encoded by a polynucleotide comprising polymorphic sequence selected from the group consisting of SEQ ID NOS: 1-217, or by a polynucleotide comprising a nucleotide sequence that is complementary to any one of polymorphic sequences SEQ ID NOS: 1-217, provided that the polymorphic sequence includes the nucleotide listed in Table 1, column 6 for the polymorphic sequence.  
       [0039] The therapeutic agent may further include an antibody as herein described, or an oligonucleotide comprising a polymorphic sequence selected from the group consisting of SEQ ID NOS: 1-217, or by a polynucleotide comprising a nucleotide sequence that is complementary to any one of polymorphic sequences SEQ ID NOS: 1-217, provided that the polymorphic sequence includes the nucleotide listed in Table 1, column 5 or Table 1, column 6 for the polymorphic sequence,  
       [0040] In another aspect, the invention provides an oligonucleotide array comprising one or more oligonucleotides hybridizing to a first polynucleotide at a polymorphic site encompassed therein. The first polynucleotide can be, e.g., a nucleotide sequence comprising one or more polymorphic sequences (SEQ ID NOS: 1-217); a nucleotide sequence that is a fragment of any of the nucleotide sequence, provided that the fragment includes a polymorphic site in the polymorphic sequence; a complementary nucleotide sequence comprising a sequence complementary to one or more polymorphic sequences (SEQ ID NOS: 1-217); or a nucleotide sequence that is a fragment of the complementary sequence, provided that the fragment includes a polymorphic site in the polymorphic sequence.  
       [0041] In preferred embodiments, the he array comprises 10; 100; 1,000; 10,000; 100,000 or more oligonucleotides.  
       [0042] The invention also provides a kit comprising one or more of the herein-described nucleic acids. The kit can include, e.g., polynucleotide which includes one or more of the SNPs described herein. The polynucleotide can be, e.g., a nucleotide sequence which includes one or more of the polymorphic sequences shown in Table 1 (SEQ ID NOS: 1-217) and which includes a polymorphic sequence, or a fragment of the polymorphic sequence, as long as it includes the polymorphic site. The polynucleotide may alternatively contain a nucleotide sequence which includes a sequence complementary to one or more of the sequences (SEQ ID NOS: 1-217), or a fragment of the complementary nucleotide sequence, provided that the fragment includes a polymorphic site in the polymorphic sequence. Alternatively, or in addition, the kit can include the invention provides an isolated allele-specific oligonucleotide that hybridizes to a first polynucleotide containing a polymorphic site. The first polynucleotide can be, e.g., a nucleotide sequence comprising one or more polymorphic sequences (SEQ ID NOS: 1-217), provided that the polymorphic sequence includes a nucleotide other than the nucleotide recited in Table 1, column 5 for the polymorphic sequence. Alternatively, the first polynucleotide can be a nucleotide sequence that is a fragment of the polymorphic sequence, provided that the fragment includes a polymorphic site in the polymorphic sequence, or a complementary nucleotide sequence which includes a sequence complementary to one or more polymorphic sequences (SEQ ID NOS: 1-217), provided that the complementary nucleotide sequence includes a nucleotide other than the complement of the nucleotide recited in Table 1, column 5. The first polynucleotide may in addition include a nucleotide sequence that is a fragment of the complementary sequence, provided that the fragment includes a polymorphic site in the polymorphic sequence.  
       [0043] Unless otherwise defined, all technical and scientific terms used herein have the same meaning as commonly understood by one of ordinary skill in the art to which this invention belongs. Although methods and materials similar or equivalent to those described herein can be used in the practice or testing of the present invention, suitable methods and materials are described below. All publications, patent applications, patents, and other references mentioned herein are incorporated by reference in their entirety. In the case of conflict, the present specification, including definitions, will control. In addition, the materials, methods, and examples are illustrative only and not intended to be limiting.  
       [0044] Other features and advantages of the invention will be apparent from the following detailed description and claims. 
     
    
    
     DETAILED DESCRIPTION OF THE INVENTION  
     [0045] The invention provides human SNPs in sequences which are transcribed, i.e., are cSNPs. As is explained in more detail below, many SNPs have been identified in genes related to polypeptides of known function. For some applications, SNPs associated with various polypeptides can be used together. For example, SNPs can be group according to whether they are derived from a nucleic acid encoding a polypeptide related to particular protein family or involved in a particular function. Thus, SNPs related to ATPase associated protein may be collected for some applications, as may SNPs associated with cadherin, or ephrin (EPH), or any of the other proteins recited in Table 1, column 10. Similarly, SNPs can be grouped according to the functions played by their gene products. Such functions include, structural proteins, proteins from which associated with metabolic pathways fatty acid metabolism, glycolysis, intermediary metabolism, calcium metabolism, proteases, and amino acid metabolism, etc.  
     [0046] The SNPs are shown in Table 1. Table 1 provides a summary of the polymorphic sequences disclosed herein. In the Table, a “SNP” is a polymorphic site embedded in a polymorphic sequence. The polymorphic site is occupied by a single nucleotide, which is the position of nucleotide variation between the wild type and polymorphic allelic sequences. The site is usually preceded by and followed by relatively highly conserved sequences of the allele (e.g., sequences that vary in less than 1/100 or 1/1000 members of the populations). Thus, a polymorphic sequence can include one or more of the following sequences: (1) a sequence having the nucleotide denoted in Table 1, column 5 at the polymorphic site in the polymorphic sequence: and (2) a sequence having a nucleotide other than the nucleotide denoted in Table 1, column 5 at the polymorphic site in the polymorphic sequence. An example of the latter sequence is a polymorphic sequence having the nucleotide denoted in Table 1, column 6 at the polymorphic site in the polymorphic sequence.  
     [0047] Nucleotide sequences for a referenced-polymorphic pair are presented in Table 1. Each cSNP entry provides information concerning the wild type nucleotide sequence as well as the corresponding sequence that includes the SNP at the polymorphic site. Since the wild type sequence is already known, the Sequence Listing accompanying this application provides only the sequence of the polymorphic allele; its SEQ ID NO: is also cross referenced in the Table 1. A reference to the SEQ ID NO: giving the translated amino acid sequence is also given if appropriate. The Table includes thirteen columns that provide descriptive information for each cSNP, each of which occupies one row in the Table. The column headings, and an explanation for each, are given below.  
     [0048] “SEQ ID” provides the cross-reference to the nucleotide SEQ ID NO: , and, as explained below, an amino acid SEQ ID NO: as well, in the Sequence Listing of the application. Conversely, each sequence entry in the Sequence Listing also includes a cross-reference to the CuraGen sequence ID, under the label “Accession number”. The first SEQ ID NO: given in the first column of each row of the Table is the SEQ ID NO: identifying the nucleic acid sequence for the polymorphism. If a polymorphism carries an entry for the amino acid portion of the row, a second SEQ ID NO: appears in parentheses in the column “Amino acid after” (see below). This second SEQ ID NO: refers to an amino acid sequence giving the polymorphic amino acid sequence that is the translation of the nucleotide polymorphism. If a polymorphism carries no entry for the protein portion of the row, only one SEQ ID NO: is provided.  
     [0049] “CuraGen sequence ID” provides CuraGen Corporation&#39;s accession number.  
     [0050] “Base pos. of SNP” gives the numerical position of the nucleotide in the reference, or wild-type, gene at which the cSNP is found. This enumeration of bases is that found in the public database from which the reference gene is taken (see column headed “Name of protein identified following a BLASTX analysis of the CuraGen sequence”) as of the filing date of the instant application.  
     [0051] “Polymorphic sequence” provides a 51-base sequence with the polymorphic site at the 26 th  base in the sequence, as well as 25 bases from the reference sequence on the 5′ side and the 3′ side of the polymorphic site. The designation at the polymorphic site is enclosed in square brackets, and provides first, the reference nucleotide; second, a “slash (/)”; and third, the polymorphic nucleotide. In certain cases the polymorphism is an insertion or a deletion. In that case, the position which is “unfilled” (i.e., the reference or the polymorphic position) is indicated by the word “gap”.  
     [0052] “Base before” provides the nucleotide present in the reference, or wild-type, gene at the position at which the polymorphism is found.  
     [0053] “Base after” provides the altered nucleotide at the position of the polymorphism.  
     [0054] “Amino acid before” provides the amino acid in the reference protein, if the polymorphism occurs in a coding region.  
     [0055] “Amino acid after” provides the amino acid in the polymorphic protein, if the polymorphism occurs in a coding region. This column also includes the SEQ ID NO: in parentheses if the polymorphism occurs in a coding region.  
     [0056] “Type of change” provides information on the nature of the polymorphism.  
     [0057] “SILENT-NONCODING” is used if the polymorphism occurs in a noncoding region of a nucleic acid.  
     [0058] “SILENT-CODING” is used if the polymorphism occurs in a coding region of a nucleic acid of a nucleic acid and results in no change of amino acid in the translated polymorphic protein.  
     [0059] “CONSERVATIVE” is used if the polymorphism occurs in a coding region of a nucleic acid and provides a change in which the altered amino acid falls in the same class as the reference amino acid. The classes are:  
     [0060] Aliphatic: Gly, Ala, Val, Leu, Ile;  
     [0061] Aromatic: Phe, Tyr, Trp;  
     [0062] Sulfur-containing: Cys, Met;  
     [0063] Aliphatic OH: Ser, Thr;  
     [0064] Basic: Lys, Arg, Mis;  
     [0065] Acidic: Asp, Glu, Asn, Gln;  
     [0066] Pro falls in none of the other classes; and  
     [0067] End defines a termination codon.  
     [0068] “NONCONSERVATIVE” is used if the polymorphism occurs in a coding region of a nucleic acid and provides a change in which the altered amino acid falls in a different class than the reference amino acid.  
     [0069] “FRAMESHEFT” relates to an insertion or a deletion. If the frameshift occurs in a coding region, the Table provides the translation of the frameshifted codons 3′ to the polymorphic site.  
     [0070] “Protein classification of CuraGen gene” provides a generic class into which the protein is classified. During the course of the work leading to the filing of the four applications identified above, several classes of proteins were identified. Some are described further below.  
     [0071] “Protein classification of CuraGen gene” provides a generic class into which the protein is classified. Approximately multiple classes of proteins were identified. The classes include the following:  
     [0072] Amylases  
     [0073] Amylase is responsible for endohydrolysis of 1,4-alpha-glucosidic linkages in oligosaccharides and polysaccharides. Variations in amylase gene may be indicative of delayed maturation and of various amylase producing neoplasms and carcinomas.  
     [0074] Amyloid  
     [0075] The serum amyloid A (SAA) proteins comprise a family of vertebrate proteins that associate predominantly with high-density lipoproteins (HDL). The synthesis of certain members of the family is greatly increased in inflammation. Prolonged elevation of plasma SAA levels, as in chronic inflammation, 15 results in a pathological condition, called amyloidosis, which affects the liver, kidney and spleen and which is characterized by the highly insoluble accumulation of SAA in these tissues. Amyloid selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism. Deposition of fibrillar amyloid proteins intraneuronally, as neurofibrillary tangles, extracellularly, as plaques and in blood vessels, is characteristic of both Alzheimer&#39;s disease and aged Down&#39;s syndrome. Amyloid deposition is also associated with type II diabetes mellitus.  
     [0076] Angiopoeitin  
     [0077] Members of the angiopoeitin/fibrinogen family have been shown to stimulate the generation of new blood vessels, inhibit the generation of new blood vessels, and perform several roles in blood clotting. This generation of new blood vessels, called angiogenesis, is also an essential step in tumor growth in order for the tumor to get the blood supply that it needs to expand. Variation in these genes may be predictive of any form of heart disease, numerous blood clotting disorders, stroke, hypertension and predisposition to tumor formation and metastasis. In particular, these variants may be predictive of the response to various antihypertensive drugs and chemotherapeutic and anti-tumor agents.  
     [0078] Apoptosis-Related Proteins  
     [0079] Active cell suicide (apoptosis) is induced by events such as growth factor withdrawal and toxins. It is controlled by regulators, which have either an inhibitory effect on programmed cell death (anti-apoptotic) or block the protective effect of inhibitors (pro-apoptotic). Many viruses have found a way of countering defensive apoptosis by encoding their own anti-apoptosis genes preventing their target-cells from dying too soon. Variants of apoptosis related genes may be useful in formulation of anti-aging drugs.  
     [0080] Cadherin, Cyclin, Polymerase, Oncogenes, Histones, Kinases  
     [0081] Members of the cell division/cell cycle pathways such as cyclins, many transcription factors and kinases, DNA polymerases, histones, helicases and other oncogenes play a critical role in carcinogenesis where the uncontrolled proliferation of cells leads to tumor formation and eventually metastasis. Variation in these genes may be predictive of predisposition to any form of cancer, from increased risk of tumor formation to increased rate of metastasis. In particular, these variants may be predictive of the response to various chemotherapeutic and anti-tumor agents.  
     [0082] Colony-Stimulating Factor-Related Proteins  
     [0083] Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages.  
     [0084] Complement-Related Proteins  
     [0085] Complement proteins are immune associated cytotoxic agents, acting in a chain reaction to exterminate target cells to that were opsonized (primed) with antibodies, by forming a membrane attack complex (MAC). The mechanism of killing is by opening pores in the target cell membrane. Variations in 20 complement genes or their inhibitors are associated with many autoimmune disorders. Modified serum levels of complement products cause edemas of various tissues, lupus (SLE), vasculitis, glomerulonephritis, renal failure, hemolytic anemia, thrombocytopenia, and arthritis. They interfere with mechanisms of ADCC (antibody dependent cell cytotoxicity), severely impair immune competence and reduce phagocytic ability. Variants of complement genes may also be indicative of type I diabetes mellitus, meningitis neurological disorders such as Nemaline myopathy, Neonatal hypotonia, muscular disorders such as congenital myopathy and other diseases.  
     [0086] Cytochrome  
     [0087] The respiratory chain is a key biochemical pathway which is essential to all aerobic cells. There are five different cytochromes involved in the chain. These are heme bound proteins which serve as electron carriers. Modifications in these genes may be predictive of ataxia areflexia, dementia and myopathic and neuropathic changes in muscles. Also, association with various types of solid tumors.  
     [0088] Kinesins  
     [0089] Kinesins are tubulin molecular motors that function to transport organelles within cells and to move chromosomes along microtubules during cell division. Modifications of these genes may be indicative of neurological disorders such as Pick disease of the brain, tuberous sclerosis.  
     [0090] Cytokines, Interferon, Interleukin  
     [0091] Members of the cytokine families are known for their potent ability to stimulate cell growth and division even at low concentrations. Cytokines such as erythropoietin are cell-specific in their growth stimulation; erythropoietin is useful for the stimulation of the proliferation of erythroblasts. Variants in cytokines may be predictive for a wide variety of diseases, including cancer predisposition.  
     [0092] G-Protein Coupled Receptors  
     [0093] G-protein coupled receptors (also called R7G) are an extensive group of hormones, neurotransmitters, odorants and light receptors which transduce extracellular signals by interaction with guanine nucleotide-binding (G) proteins. Alterations in genes coding for G-coupled proteins may be involved in and indicative of a vast number of physiological conditions. These include blood pressure regulation, renal dysfunctions, male infertility, dopamine associated cognitive, emotional, and endocrine functions, hypercalcemia, chondrodysplasia and osteoporosis, pseudohypoparathyroidism, growth retardation and dwarfism.  
     [0094] Thioesterases  
     [0095] Eukaryotic thiol proteases are a family of proteolytic enzymes which contain an active site cysteine. Catalysis proceeds through a thioester intermediate and is facilitated by a nearby histidine side chain; an asparagine completes the essential catalytic triad. Variants of thioester associated genes may be predictive of neuronal disorders and mental illnesses such as Ceroid Lipoffiscinosis, Neuronal 1, Infantile, Santavuori disease and more.  
     [0096] “Name of protein identified following a BLASTX analysis of the CuraGen sequence” provides the database reference for the protein found to resemble the novel reference-polymorphism cognate pair most closely.  
     [0097] “Similarity (pvalue) following a BLASTX analysis” provides the pvalue, a statistical measure from the BLASTX analysis that the polymorphic sequence is similar to, and therefore an allele of, the reference, or wild-type, sequence. In the present application, a cutoff of pvalue &gt;1×10 −50  (entered, for example, as 1.0E-50 in the Table) is used to establish that the reference-polymorphic cognate pairs are novel. A pvalue &lt;1×10 −50  defines proteins considered to be already known.  
     [0098] “Map location” provides any information available at the time of filing related to localization of a gene on a chromosome.  
     [0099] The polymorphisms are arranged in the Table in the following order.  
     [0100] SEQ ID NOs: 1 to 114 are SNPs that are silent.  
     [0101] SEQ ID NOs: 115-133 are SNPs that lead to conservative amino acid changes.  
     [0102] SEQ ID NOs: 134-194 are SNPs that lead to nonconservative amino acid changes.  
     [0103] SEQ ID NOs: 195-217 are SNPs that involve a gap. With respect to the reference or wild-type sequence at the position of the polymorphism, the allelic cSNP introduces an additional nucleotide (an insertion) or deletes a nucleotide (a deletion). An SNP that involves a gap generates a frame shift.  
     [0104] SEQ ID NOs: 218-236 are the amino acid sequences centered at the polymorphic amino acid residue for the protein products provided by SNPs that lead to conservative amino acid changes. 7 or 8 amino acids on either side of the polymorphic site are shown. The order in which these sequences appear mirrors the order of presentation of the cognate nucleotide sequences, and is set forth in the Table.  
     [0105] SEQ ID NOs: 237-297 are the amino acid sequences centered at the polymorphic amino acid residue for the protein products provided by SNPs that lead to nonconservative amino acid changes. 7 or 8 amino acids on either side of the polymorphic site are shown. The order in which these sequences appear mirrors the order of presentation of the cognate nucleotide sequences, and is set forth in the Table.  
     [0106] SEQ ID NOs: 298-320 are the amino acid sequences centered at the polymorphic amino acid residue for the protein products provided by SNPs that lead to frameshift-induced amino acid changes. 7 or 8 amino acids on either side of the polymorphic site are shown. The order in which these sequences appear mirrors the order of presentation of the cognate nucleotide sequences, and is set forth in the Table.  
     [0107] Provided herein are compositions which include, or are capable of detecting, nucleic acid sequences having these polymorphisms, as well as methods of using nucleic acids.  
     [0108] Identification of Individuals Carrying SNPs  
     [0109] Individuals carrying polymorphic alleles of the invention may be detected at either the DNA, the RNA, or the protein level using a variety of techniques that are well known in the art. Strategies for identification and detection are described in e.g., EP 730,663, EP 717,113, and PCT US97/02102. The present methods usually employ pre-characterized polymorphisms. That is, the genotyping location and nature of polymorphic forms present at a site have already been determined. The availability of this information allows sets of probes to be designed for specific identification of the known polymorphic forms.  
     [0110] Many of the methods described below require amplification of DNA from target samples. This can be accomplished by e.g., PCR. (1989), B. for detecting polymorphisms. See generally PCR Technology: Principles and Applications for DNA Amplification (ed. H. A. Erlich, Freeman Press, NY, N.Y., 1992); PCR Protocols: A Guide to Methods and Applications (eds. Innis, et al., Academic Press, San Diego, Calif., 1990); Mattila et al., Nucleic Acids Res. 19, 4967 (1991); Eckert et al., PCR Methods and Applications 1, 17 (1991); PCR (eds. McPherson et al., IRL Press, Oxford); and U.S. Pat. No. 4,683,202.  
     [0111] The phrase “recombinant protein” or “recombinantly produced protein” refers to a peptide or protein produced using non-native cells that do not have an endogenous copy of DNA able to express the protein. In particular, as used herein, a recombinantly produced protein relates to the gene product of a polymorphic allele, i.e., a “polymorphic protein” containing an altered amino acid at the site of translation of the nucleotide polymorphism. The cells produce the protein because they have been genetically altered by the introduction of the appropriate nucleic acid sequence. The recombinant protein will not be found in association with proteins and other subcellular components normally associated with the cells producing the protein. The terms “protein” and “polypeptide” are used interchangeably herein.  
     [0112] The phrase “substantially purified” or “isolated” when referring to a nucleic acid, peptide or protein, means that the chemical composition is in a milieu containing fewer, or preferably, essentially none, of other cellular components with which it is naturally associated. Thus, the phrase “isolated” or “substantially pure” refers to nucleic acid preparations that lack at least one protein or nucleic acid normally associated with the nucleic acid in a host cell. It is preferably in a homogeneous state although it can be in either a dry or aqueous solution. Purity and homogeneity are typically determined using analytical chemistry techniques such as gel electrophoresis or high performance liquid chromatography. Generally, a substantially purified or isolated nucleic acid or protein will comprise more than 80% of all macromolecular species present in the preparation. Preferably, the nucleic acid or protein is purified to represent greater than 90% of all macromolecular species present. More preferably the nucleic acid or protein is purified to greater than 95%, and most preferably the nucleic acid or protein is purified to essential homogeneity, wherein other macromolecular species are not detected by conventional analytical procedures.  
     [0113] The genomic DNA used for the diagnosis may be obtained from any nucleated cells of the body, such as those present in peripheral blood, urine, saliva, buccal samples, surgical specimen, and autopsy specimens. The DNA may be used directly or may be amplified enzymatically in vitro through use of PCR (Saiki et al.  Science  239:487-491 (1988)) or other in vitro amplification methods such as the ligase chain reaction (LCR) (Wu and Wallace  Genomics  4:560-569 (1989)), strand displacement amplification (SDA) (Walker et al.  Proc. Natl. Acad. Sci. U.S.A,  89:392-396 (1992)), self-sustained sequence replication (3SR) (Fahy et al. PCR Methods P&amp;J&amp; 1:25-33 (1992)), prior to mutation analysis.  
     [0114] The method for preparing nucleic acids in a form that is suitable for mutation detection is well known in the art. A “nucleic acid” is a deoxyribonucleotide or ribonucleotide polymer in either single-or double-stranded form, including known analogs of natural nucleotides unless otherwise indicated. The term “nucleic acids”, as used herein, refers to either DNA or RNA. “Nucleic acid sequence” or “polynucleotide sequence” refers to a single-stranded sequence of deoxyribonucleotide or ribonucleotide bases read from the 5′ end to the 3′ end. The direction of 5′ to 3′ addition of nascent RNA transcripts is referred to as the transcription direction; sequence regions on the DNA strand having the same sequence as the RNA and which are beyond the 5′ end of the RNA transcript in the 5′ direction are referred to as “upstream sequences”; sequence regions on the DNA strand having the same sequence as the RNA and which are beyond the 3′ end of the RNA transcript in the 3′ direction are referred to as “downstream sequences”. The term includes both self-replicating plasmids, infectious polymers of DNA or RNA and nonfunctional DNA or RNA. The complement of any nucleic acid sequence of the invention is understood to be included in the definition of that sequence. “Nucleic acid probes” may be DNA or RNA fragments.  
     [0115] The detection of polymorphisms in specific DNA sequences, can be accomplished by a variety of methods including, but not limited to, restriction-fragment-length-polymorphism detection based on allele-specific restriction-endonuclease cleavage (Kan and Dozy  Lancet  ii:910-912 (1978)), hybridization with allele-specific oligonucleotide probes (Wallace et al. Nucl. Acids Res. 6:3543-3557 (1978)), including immobilized oligonucleotides (Saiki et al.  Proc. Natl. Acad. SCI. USA,  86:6230-6234 (1969)) or oligonucleotide arrays (Maskos and Southern  Nucl. Acids Res  21:2269-2270 (1993)), allele-specific PCR (Newton et al.  Nucl Acids Res  17:2503-2516 (1989)), mismatch-repair detection (MRD) (Faham and Cox  Genome Res  5:474-482 (1995)), binding of MutS protein (Wagner et al.  Nucl Acids Res  23:3944-3948 (1995), denaturing-gradient gel electrophoresis (DGGE) (Fisher and Lerman et al.  Proc. NatI. Acad. Sci. U.S.A.  80:1579-l 583 (1983)), single-strand-conformation-polymorphism detection (Orita et al. Genomics 5:874-879 (1983)), RNAase cleavage at mismatched base-pairs (Myers et al.  Science  230:1242 (1985)), chemical (Cotton et al. Proc. Natl. w Sci. U.S.A, 8Z4397-4401 (1988)) or enzymatic (Youil et al. Proc. Natl. Acad. Sci.  U.S.A.  92:87-91 (1995)) cleavage of heteroduplex DNA, methods based on allele specific primer extension (Syvanen et al.  Genomics  8:684-692 (1990)), genetic bit analysis (GBA) (Nikiforov et al. &amp;&amp;I  Acids  22:4167-4175 (1994)), the oligonucleotide-ligation assay (OLA) (Landegren et al. Science — 241:1077 (1988)), the allele-specific ligation chain reaction (LCR) (Barrany Proc. Natl. Acad. Sci.  U.S.A.  88:189-193 (1991)), gap-LCR (Abravaya et al.  Nucl Acids Res  23:675-682 (1995)), radioactive and/or fluorescent DNA sequencing using standard procedures well known in the art, and peptide nucleic acid (PNA) assays (Orum et al., Nucl. Acids Res, 21:5332-5356 (1993); Thiede et al.,  Nucl. Acids Res.  24:983-984 (1996)).  
     [0116] “Specific hybridization” or “selective hybridization” refers to the binding, or duplexing, of a nucleic acid molecule only to a second particular nucleotide sequence to which the nucleic acid is complementary, under suitably stringent conditions when that sequence is present in a complex mixture (e.g., total cellular DNA or RNA). “Stringent conditions” are conditions under which a probe will hybridize to its target subsequence, but to no other sequences. Stringent conditions are sequence-dependent and are different in different circumstances. Longer sequences hybridize specifically at higher temperatures than shorter ones. Generally, stringent conditions are selected such that the temperature is about 5° C. lower than the thermal melting point (Tm) for the specific sequence to which hybridization is intended to occur at a defined ionic strength and pH. The Tm is the temperature (under defined ionic strength, pH, and nucleic acid concentration) at which 50% of the target sequence hybridizes to the complementary probe at equilibrium. Typically, stringent conditions include a salt concentration of at least about 0.01 to about 1.0 M Na ion concentration (or other salts), at pH 7.0 to 8.3. The temperature is at least about 30° C. for short probes (e.g., 10 to 50 nucleotides). Stringent conditions can also be achieved with the addition of destabilizing agents such as formamide. For example, conditions of 5×SSPE (750 mM NaCl, 50 mM NaPhosphate, 5 mM EDTA, pH 7.4) and a temperature of 25-30° C. are suitable for allele-specific probe hybridizations.  
     [0117] “Complementary” or “target” nucleic acid sequences refer to those nucleic acid sequences which selectively hybridize to a nucleic acid probe. Proper annealing conditions depend, for example, upon a probe&#39;s length, base composition, and the number of mismatches and their position on the probe, and must often be determined empirically. For discussions of nucleic acid probe design and annealing conditions, see, for example, Sambrook et al., or  Current Protocols in Molecular Biology,  F. Ausubel et al., ed., Greene Publishing and Wiley-Interscience, New York (1987).  
     [0118] A perfectly matched probe has a sequence perfectly complementary to a particular target sequence. The test probe is typically perfectly complementary to a portion of the target sequence. A “polymorphic” marker or site is the locus at which a sequence difference occurs with respect to a reference sequence. Polymorphic markers include restriction fragment length polymorphisms, variable number of tandem repeats (VNTR&#39;s), hypervariable regions, minisatellites, dinucleotide repeats, trinucleotide repeats, tetranucleotide repeats, simple sequence repeats, and insertion elements such as Alu. The reference allelic form may be, for example, the most abundant form in a population, or the first allelic form to be identified, and other allelic forms are designated as alternative, variant or polymorphic alleles. The allelic form occurring most frequently in a selected population is sometimes referred to as the “wild type” form, and herein may also be referred to as the “reference” form. Diploid organisms may be homozygous or heterozygous for allelic forms. A diallelic polymorphism has two distinguishable forms (i.e., base sequences), and a triallelic polymorphism has three such forms.  
     [0119] As use herein an “oligonucleotide” is a single-stranded nucleic acid ranging in length from 2 to about 60 bases. Oligonucleotides are often synthetic but can also be produced from naturally occurring polynucleotides. A probe is an oligonucleotide capable of binding to a target nucleic acid of complementary sequence through one or more types of chemical bonds, usually through complementary base pairing via hydrogen bond formation. Oligonucleotides probes are often between 5 and 60 bases, and, in specific embodiments, may be between 10-40, or 15-30 bases long. An oligonucleotide probe may include natural (i.e. A, G, C, or T) or modified bases (7-deazaguanosine, inosine, etc.). In addition, the bases in an oligonucleotide probe may be joined by a linkage other than a phosphodiester bond, such as a phosphoramidite linkage or a phosphorothioate linkage, or they may be peptide nucleic acids in which the constituent bases are joined by peptide bonds rather than by phosphodiester bonds, so long as it does not interfere with hybridization.  
     [0120] As used herein, the term “primer” refers to a single-stranded oligonucleotide which acts as a point of initiation of template-directed DNA synthesis under appropriate conditions (e.g., in the presence of four different nucleoside triphosphates and a polymerization agent, such as DNA polymerase, RNA polymerase or reverse transcriptase) in an appropriate buffer and at a suitable temperature. The appropriate length of a primer depends on the intended use of the primer, but typically ranges from 15 to 30 nucleotides. Short primer molecules generally require cooler temperatures to form sufficiently stable hybrid complexes with the template. A primer need not be perfectly complementary to the exact sequence of the template, but should be sufficiently complementary to hybridize with it. The term “primer site” refers to the sequence of the target DNA to which a primer hybridizes. The term “primer pair” refers to a set of primers including a 5′ (upstream) primer that hybridizes with the 5′ end of the DNA sequence to be amplified and a 3′ (downstream) primer that hybridizes with the complement of the 3′ end of the sequence to be amplified.  
     [0121] DNA fragments can be prepared, for example, by digesting plasmid DNA, or by use of PCR. Oligonucleotides for use as primers or probes are chemically synthesized by methods known in the field of the chemical synthesis of polynucleotides, including by way of non-limiting example the phosphoramidite method described by Beaucage and Carruthers,  Tetrahedron Lett  22:1859-1 862 (1981) and the triester method provided by Matteucci, et al.,  J. Am. Chem. Soc.,  103:3185 (1981) both incorporated herein by reference. These syntheses may employ an automated synthesizer, as described in Needham-VanDevanter, D. R., et al.,  Nucleic Acids Res.  12:61596168 (1984). Purification of oligonucleotides may be carried out by either native acrylamide gel electrophoresis or by anion-exchange HPLC as described in Pearson, J. D. and Regnier, F. E., ,J. Chrom,, 255:137-149 (1983). A double stranded fragment may then be obtained, if desired, by annealing appropriate complementary single strands together under suitable conditions or by synthesizing the complementary strand using a DNA polymerase with an appropriate primer sequence. Where a specific sequence for a nucleic acid probe is given, it is understood that the complementary strand is also identified and included. The complementary strand will work equally well in situations where the target is a double-stranded nucleic acid.  
     [0122] The sequence of the synthetic oligonucleotide or of any nucleic acid fragment can be can be obtained using either the dideoxy chain termination method or the Maxam-Gilbert method (see Sambrook et al.  Molecular Cloning—a Laboratory Manual ( 2nd Ed.), Vols. 1-3, Cold Spring Harbor Laboratory, Cold Spring Harbor, N.Y., (1989), which is incorporated herein by reference. This manual is hereinafter referred to as “Sambrook et al.” ; Zyskind et al., (1988)). Recombinant DNA Laboratory Manual, (Acad. Press, New York). Oligonucleotides useful in diagnostic assays are typically at least 8 consecutive nucleotides in length, and may range upwards of 18 nucleotides in length to greater than 100 or more consecutive nucleotides.  
     [0123] Another aspect of the invention pertains to isolated antisense nucleic acid molecules that are hybridizable to or complementary to the nucleic acid molecule comprising the SNP-containing nucleotide sequences of the invention, or fragments, analogs or derivatives thereof. An “antisense” nucleic acid comprises a nucleotide sequence that is complementary to a “sense” nucleic acid encoding a protein, e.g., complementary to the coding strand of a double-stranded cDNA molecule or complementary to an mRNA sequence. In specific aspects, antisense nucleic acid molecules are provided that comprise a sequence complementary to at least about 10, about 25, about 50, or about 60 nucleotides or an entire SNP coding strand, or to only a portion thereof.  
     [0124] In one embodiment, an antisense nucleic acid molecule is antisense to a “coding region” of the coding strand of a polymorphic nucleotide sequence of the invention. The term “coding region” refers to the region of the nucleotide sequence comprising codons which are translated into amino acid. In another embodiment, the antisense nucleic acid molecule is antisense to a “noncoding region” of the coding strand of a nucleotide sequence of the invention. The term “noncoding region” refers to 5′ and 3′ sequences which flank the coding region that are not translated into amino acids (i.e., also referred to as 5′ and 3′ untranslated regions).  
     [0125] Given the coding strand sequences disclosed herein, antisense nucleic acids of the invention can be designed according to the rules of Watson and Crick or Hoogsteen base pairing. For example, the antisense nucleic acid molecule can generally be complementary to the entire coding region of an mRNA, but more preferably as embodied herein, it is an oligonucleotide that is antisense to only a portion of the coding or noncoding region of the mRNA. An antisense oligonucleotide can range in length between about 5 and about 60 nucleotides, preferably between about 10 and about 45 nucleotides, more preferably between about 15 and 40 nucleotides, and still more preferably between about 15 and 30 in length. An antisense nucleic acid of the invention can be constructed using chemical synthesis or enzymatic ligation reactions using procedures known in the art. For example, an antisense nucleic acid (e.g., an antisense oligonucleotide) can be chemically synthesized using naturally occurring nucleotides or variously modified nucleotides designed to increase the biological stability of the molecules or to increase the physical stability of the duplex formed between the antisense and sense nucleic acids, e.g., phosphorothioate derivatives and acridine substituted nucleotides can be used.  
     [0126] Examples of modified nucleotides that can be used to generate the antisense nucleic acid include: 5-fluorouracil, 5-bromouracil, 5-chlorouracil, 5-iodouracil, hypoxanthine, xanthine, 4-acetylcytosine, 5-(carboxyhydroxylmethyl) uracil, 5-carboxymethylaminomethyl-2-thiouridine, 5-carboxymethylaminomethyluracil, dihydrouracil, beta-D-galactosylqueosine, inosine, N6-isopentenyladenine, 1-methylguanine, 1-methylinosine, 2,2-dimethylguanine, 2-methyladenine, 2-methylguanine, 3-methylcytosine, 5-methylcytosine, N6-adenine, 7-methylguanine, 5-methylaminomethyluracil, 5-methoxyaminomethyl-2-thiouracil, beta-D-mannosylqueosine, 5′-methoxycarboxymethyluracil, 5-methoxyuracil, 2-methylthio-N6-isopentenyladenine, uracil-5-oxyacetic acid (v), wybutoxosine, pseudouracil, queosine, 2-thiocytosine, 5-methyl-2-thiouracil, 2-thiouracil, 4-thiouracil, 5-methyluracil, uracil-5-oxyacetic acid methylester, uracil-5-oxyacetic acid (v), 5-methyl-2-thiouracil, 3-(3-amino-3-N-2-carboxypropyl) uracil, (acp3)w, and 2,6-diaminopurine. Alternatively, the antisense nucleic acid can be produced biologically using an expression vector into which a nucleic acid has been subcloned in an antisense orientation (i.e., RNA transcribed from the inserted nucleic acid will be of an antisense orientation to a target nucleic acid of interest, described further in the following subsection).  
     [0127] The antisense nucleic acid molecules of the invention are typically administered to a subject or generated in situ such that they hybridize with or bind to cellular mRNA and/or genomic DNA encoding a polymorphic protein to thereby inhibit expression of the protein, e.g., by inhibiting transcription and/or translation. The hybridization can be by conventional nucleotide complementary to form a stable duplex, or, for example, in the case of an antisense nucleic acid molecule that binds to DNA duplexes, through specific interactions in the major groove of the double helix. An example of a route of administration of antisense nucleic acid molecules of the invention includes direct injection at a tissue site. Alternatively, antisense nucleic acid molecules can be modified to target selected cells and then administered systemically. For example, for systemic administration, antisense molecules can be modified such that they specifically bind to receptors or antigens expressed on a selected cell surface, e.g., by linking the antisense nucleic acid molecules to peptides or antibodies that bind to cell surface receptors or antigens. The antisense nucleic acid molecules can also be delivered to cells using the vectors described herein. To achieve sufficient intracellular concentrations of antisense molecules, vector constructs in which the antisense nucleic acid molecule is placed under the control of a strong pol II or pol III promoter are preferred.  
     [0128] In yet another embodiment, the antisense nucleic acid molecule of the invention is an α-anomeric nucleic acid molecule. An α-anomeric nucleic acid molecule forms specific double-stranded hybrids with complementary RNA in which, contrary to the usual β-units, the strands run parallel to each other (Gaultier et al. (1987)  Nucleic Acids Res  15: 6625-6641). The antisense nucleic acid molecule can also comprise a 2′-o-methylribonucleotide (Inoue et al. (1987)  Nucleic Acids Res  15: 6131-6148) or a chimeric RNA-DNA analogue (Inoue et al. (1987)  FEBS Lett  215: 327-330).  
     [0129] The following terms are used to describe the sequence relationships between two or more nucleic acids or polynucleotides: “reference sequence”, “comparison window”, “sequence identity”, “percentage of sequence identity”, and “substantial identity”. A “reference sequence” is a defined sequence used as a basis for a sequence comparison; a reference sequence may be a subset of a larger sequence, for example, as a segment of a full-length cDNA or gene sequence given in a sequence listing, or may comprise a complete cDNA or gene sequence. Optimal alignment of sequences for aligning a comparison window may, for example, be conducted by the local homology algorithm of Smith and Waterman  Adv. AppI. Math,  2482 (1981), by the homology alignment algorithm of Needleman and Wunsch  J. Mol. Biol.  48:443 (1970), by the search for similarity method of Pearson and Lipman  Proc. Natl. Acad. Sci. U.S.A.  852444 (1988), or by computerized implementations of these algorithms (for example, GAP, BESTFIT, FASTA, and TFASTA in the Wisconsin Genetics Software Package Release 7.0, Genetics Computer Group, 575 Science Dr., Madison, Wis.).  
     [0130] Techniques for nucleic acid manipulation of the nucleic acid sequences harboring the cSNP&#39;s of the invention, such as subcloning nucleic acid sequences encoding polypeptides into expression vectors, labeling probes, DNA hybridization, and the like, are described generally in Sambrook et al., The phrase “nucleic acid sequence encoding” refers to a nucleic acid which directs the expression of a specific protein, peptide or amino acid sequence. The nucleic acid sequences include both the DNA strand sequence that is transcribed into RNA and the RNA sequence that is translated into protein, peptide or amino acid sequence. The nucleic acid sequences include both the full length nucleic acid sequences disclosed herein as well as non-full length sequences derived from the full length protein. It being further understood that the sequence includes the degenerate codons of the native sequence or sequences which may be introduced to provide codon preference in a specific host cell. Consequently, the principles of probe selection and array design can readily be extended to analyze more complex polymorphisms (see EP 730,663). For example, to characterize a triallelic SNP polymorphism, three groups of probes can be designed tiled on the three polymorphic forms as described above. As a further example, to analyze a diallelic polymorphism involving a deletion of a nucleotide, one can tile a first group of probes based on the undeleted polymorphic form as the reference sequence and a second group of probes based on the deleted form as the reference sequence.  
     [0131] For assay of genomic DNA, virtually any biological convenient tissue samples include whole blood, semen, saliva, tears, urine, fecal material, sweat, buccal, skin and hair can be used. Genomic DNA is typically amplified before analysis. Amplification is usually effected by PCR using primers flanking a suitable fragment e.g., of 50-500 nucleotides containing the locus of the polymorphism to be analyzed. Target is usually labeled in the course of amplification. The amplification product can be RNA or DNA, single stranded or double stranded. If double stranded, the amplification product is typically denatured before application to an array. If genomic DNA is analyzed without amplification, it may be desirable to remove RNA from the sample before applying it to the array. Such can be accomplished by digestion with DNase-free RNAase.  
     [0132] Detection of Polymorphisms in a Nucleic Acid Sample  
     [0133] The SNPs disclosed herein can be used to determine which forms of a characterized polymorphism are present in individuals under analysis.  
     [0134] The design and use of allele-specific probes for analyzing polymorphisms is described by e.g., Saiki et al., Nature 324, 163-166 (1986); Dattagupta, EP 235,726, Saiki, WO 89/11548. Allele-specific probes can be designed that hybridize to a segment of target DNA from one individual but do not hybridize to the corresponding segment from another individual due to the presence of different polymorphic forms in the respective segments from the two individuals. Hybridization conditions should be sufficiently stringent that there is a significant difference in hybridization intensity between alleles, and preferably an essentially binary response, whereby a probe hybridizes to only one of the alleles. Some probes are designed to hybridize to a segment of target DNA such that the polymorphic site aligns with a central position (e.g., in a 15-mer at the 7 position; in a 16-mer, at either the 7, 8 or 9 position) of the probe. This design of probe achieves good discrimination in hybridization between different allelic forms.  
     [0135] Allele-specific probes are often used in pairs, one member of a pair showing a perfect match to a reference form of a target sequence and the other member showing a perfect match to a variant form. Several pairs of probes can then be immobilized on the same support for simultaneous analysis of multiple polymorphisms within the same target sequence.  
     [0136] The polymorphisms can also be identified by hybridization to nucleic acid arrays, some examples of which are described in oublished PCT application WO 95/11995. WO 95/11995 also describes subarrays that are optimized for detection of a variant form of a precharacterized polymorphism. Such a subarray contains probes designed to be complementary to a second reference sequence, which is an allelic variant of the first reference sequence. The second group of probes is designed by the same principles, except that the probes exhibit complementarity to the second reference sequence. The inclusion of a second group (or further groups) can be particularly useful for analyzing short subsequences of the primary reference sequence in which multiple mutations are expected to occur within a short distance commensurate with the length of the probes (e.g., two or more mutations within 9 to 21 bases).  
     [0137] An allele-specific primer hybridizes to a site on target DNA overlapping a polymorphism and only primes amplification of an allelic form to which the primer exhibits perfect complementarity. See Gibbs, Nucleic Acid Res. 17 2427-2448 (1989). This primer is used in conjunction with a second primer which hybridizes at a distal site. Amplification proceeds from the two-primers, resulting in a detectable product which indicates the particular allelic form is present. A control is usually performed with a second pair of primers, one of which shows a single base mismatch at the polymorphic site and the other of which exhibits perfect complementarity to a distal site. The single-base mismatch prevents amplification and no detectable product is formed. The method works best when the mismatch is included in the 3′-most position of the oligonucleotide aligned with the polymorphism because this position is most destabilizing to elongation from the primer (see, e.g., WO 93/22456).  
     [0138] Amplification products generated using the polymerase chain reaction can be analyzed by the use of denaturing gradient gel electrophoresis. Different alleles can be identified based on the different sequence-dependent melting properties and electrophoretic migration of DNA in solution. Erlich, ed., PCR Technology, Principles and Applications for DNA Amplification, (W. H. Freeman and Co New York, 1992, Chapter 7).  
     [0139] Alleles of target sequences can be differentiated using single-strand conformation polymorphism analysis, which identifies base differences by alteration in electrophoretic migration of single stranded PCR products, as described in Orita et al., Proc. Nat. Acad. Sci. 86, 2766-2770 (1989). Amplified PCR products can be generated and heated or otherwise denatured, to form single stranded amplification products. Single-stranded nucleic acids may refold or form secondary structures which are partially dependent on the base sequence. The different electrophoretic mobilities of single-stranded amplification products can be related to base-sequence differences between alleles of target sequences.  
     [0140] The genotype of an individual with respect to a pathology suspected of being caused by a genetic polymorphism may be assessed by association analysis. Phenotypic traits suitable for association analysis include diseases that have known but hitherto unmapped genetic components (e.g., agammaglobulinemia, diabetes insipidus, Lesch-Nyhan syndrome, muscular dystrophy, Wiskott-Aldrich syndrome, Fabry&#39;s disease, familial hypercholesterolemia, polycystic kidney disease, hereditary spherocytosis, von Willebrand&#39;s disease, tuberous sclerosis, hereditary hemorrhagic telangiectasia, familial colonic polyposis, Ehlers-Danlos syndrome, osteogenesis imperfecta, and acute intermittent porphyria).  
     [0141] Phenotypic traits also include symptoms of, or susceptibility to, multifactorial diseases of which a component is or may be genetic, such as autoimmune diseases, inflammation, cancer, system, diseases of the nervous and infection by pathogenic microorganisms. Some examples of autoimmune diseases include rheumatoid arthritis, multiple sclerosis, diabetes (insulin-dependent and non-independent), systemic lupus erythematosus and Graves disease. Some examples of cancers include cancers of the bladder, brain, breast, colon, esophagus, kidney, oral cavity, ovary, pancreas, prostate, skin, stomach, leukemia, liver, lung, and uterus. Phenotypic traits also include characteristics such as longevity, appearance (e.g., baldness, obesity), strength, speed, endurance, fertility, and susceptibility or receptivity to particular drugs or therapeutic treatments.  
     [0142] Such correlations can be exploited in several ways. In the case of a strong correlation between a polymorphic form and a disease for which treatment is available, detection of the polymorphic form set in a human or animal patient may justify immediate administration of treatment, or at least the institution of regular monitoring of the patient. Detection of a polymorphic form correlated with serious disease in a couple contemplating a family may also be valuable to the couple in their reproductive decisions. For example, the female partner might elect to undergo in vitro fertilization to avoid the possibility of transmitting such a polymorphism from her husband to her offspring. In the case of a weaker, but still statistically significant correlation between a polymorphic set and human disease, immediate therapeutic intervention or monitoring may not be justified. Nevertheless, the patient can be motivated to begin simple life-style changes (e.g., diet, exercise) that can be accomplished at little cost to the patient but confer potential benefits in reducing the risk of conditions to which the patient may have increased susceptibility by virtue of variant alleles. After determining polymorphic form(s) present in an individual at one or more polymorphic sites, this information can be used in a number of methods.  
     [0143] Determination of which polymorphic forms occupy a set of polymorphic sites in an individual identifies a set of polymorphic forms that distinguishes the individual. See generally National Research Council,  The Evaluation of Forensic DNA Evidence  (Eds. Pollard et al., National Academy Press, DC, 1996). Since the polymorphic sites are within a 50,000 bp region in the human genome, the probability of recombination between these polymorphic sites is low. That low probability means the haplotype (the set of all 10 polymorphic sites) set forth in this application should be inherited without change for at least several generations. The more sites that are analyzed the lower the probability that the set of polymorphic forms in one individual is the same as that in an unrelated individual. Preferably, if multiple sites are analyzed, the sites are unlinked. Thus, polymorphisms of the invention are often used in conjunction with polymorphisms in distal genes. Preferred polymorphisms for use in forensics are diallelic because the population frequencies of two polymorphic forms can usually be determined with greater accuracy than those of multiple polymorphic forms at multi-allelic loci.  
     [0144] The capacity to identify a distinguishing or unique set of forensic markers in an individual is useful for forensic analysis. For example, one can determine whether a blood sample from a suspect matches a blood or other tissue sample from a crime scene by determining whether the set of polymorphic forms occupying selected polymorphic sites is the same in the suspect and the sample. If the set of polymorphic markers does not match between a suspect and a sample, it can be concluded (barring experimental error) that the suspect was not the source of the sample. If the set of markers does match, one can conclude that the DNA from the suspect is consistent with that found at the crime scene. If frequencies of the polymorphic forms at the loci tested have been determined (e.g., by analysis of a suitable population of individuals), one can perform a statistical analysis to determine the probability that a match of suspect and crime scene sample would occur by chance.  
     [0145] p(ID) is the probability that two random individuals have the same polymorphic or allelic form at a given polymorphic site. In diallelic loci, four genotypes are possible: AA, AB, BA, and BB. If alleles A and B occur in a haploid genome of the organism with frequencies x and y, the probability of each genotype in a diploid organism are (see WO 95/12607):  
     [0146] Homozygote: p(AA)=x 2    
     [0147] Homozygote: p(BB)=y 2 =(1−x) 2    
     [0148] Single Heterozygote: p(AB)=p(BA)=xy=x(1−x)  
     [0149] Both Heterozygotes: p(AB+BA)=2xy=2x(1−x)  
     [0150] The probability of identity at one locus (i.e, the probability that two individuals, picked at random from a population will have identical polymorphic forms at a given locus) is given by the equation:  
       p ( ID )=( x   2 ) 2+ (2 xy ) 2+ ( y   2 ) 2 .  
     [0151] These calculations can be extended for any number of polymorphic forms at a given locus. For example, the probability of identity p(ID) for a 3-allele system where the alleles have the frequencies in the population of x, y and z, respectively, is equal to the sum of the squares of the genotype frequencies:  
       p ( ID )= x   4+ (2 xy ) 2+ (2 yz ) 2+ (2 xz ) 2+   z   4+   y   4    
     [0152] In a locus of n alleles, the appropriate binomial expansion is used to calculate p(ID) and p(exc).  
     [0153] The cumulative probability of identity (cum p(ID)) for each of multiple unlinked loci is determined by multiplying the probabilities provided by each locus:  
       cum p ( ID )= p ( ID 1) p ( ID 2) p ( ID 3) . . .  p ( IDn )  
     [0154] The cumulative probability of non-identity for n loci (i.e. the probability that two random individuals will be different at 1 or more loci) is given by the equation:  
       cum p ( nonID )=1 −cum p ( ID ).  
     [0155] If several polymorphic loci are tested, the cumulative probability of non-identity for random individuals becomes very high (e.g., one billion to one). Such probabilities can be taken into account together with other evidence in determining the guilt or innocence of the suspect.  
     [0156] The object of paternity testing is usually to determine whether a male is the father of a child. In most cases, the mother of the child is known and thus, the mother&#39;s contribution to the child&#39;s genotype can be traced. Paternity testing investigates whether the part of the child&#39;s genotype not attributable to the mother is consistent with that of the putative father. Paternity testing can be performed by analyzing sets of polymorphisms in the putative father and the child.  
     [0157] If the set of polymorphisms in the child attributable to the father does not match the putative father, it can be concluded, barring experimental error, that the putative father is not the real father. If the set of polymorphisms in the child attributable to the father does match the set of polymorphisms of the putative father, a statistical calculation can be performed to determine the probability of coincidental match.  
     [0158] The probability of parentage exclusion (representing the probability that a random male will have a polymorphic form at a given polymorphic site that makes him incompatible as the father) is given by the equation (see WO 95/12607):  
       p ( exc )= xy (1 −xy )  
     [0159] where x and y are the population frequencies of alleles A and B of a diallelic polymorphic site. (At a triallelic site p(exc)=xy(1−xy)+yz(1−yz)+xz(1−xz)+3xyz(1−xyz))), where x, y and z and the respective population frequencies of alleles A, B and C). The probability of non-exclusion is:  
       p ( non - exc )=1 −p ( exc )  
     [0160] The cumulative probability of non-exclusion (representing the value obtained when n loci are used) is thus:  
       cum p ( non - exc )= p ( non - exc 1) p ( non - exc 2) p ( non - exc 3) . . .  p (non- excn )  
     [0161] The cumulative probability of exclusion for n loci (representing the probability that a random male will be excluded) is:  
       cum p ( exc )=1 −cum p ( non - exc ).  
     [0162] If several polymorphic loci are included in the analysis, the cumulative probability of exclusion of a random male is very high. This probability can be taken into account in assessing the liability of a putative father whose polymorphic marker set matches the child&#39;s polymorphic marker set attributable to his/her father.  
     [0163] The polymorphisms of the invention may contribute to the phenotype of an organism in different ways. Some polymorphisms occur within a protein coding sequence and contribute to phenotype by affecting protein structure. The effect may be neutral, beneficial or detrimental, or both beneficial and detrimental, depending on the circumstances. For example, a heterozygous sickle cell mutation confers resistance to malaria, but a homozygous sickle cell mutation is usually lethal. Other polymorphisms occur in noncoding regions but may exert phenotypic effects indirectly via influence on replication, transcription, and translation. A single polymorphism may affect more than one phenotypic trait. Likewise, a single phenotypic trait may be affected by polymorphisms in different genes. Further, some polymorphisms predispose an individual to a distinct mutation that is causally related to a certain phenotype.  
     [0164] Phenotypic traits include diseases that have known but hitherto unmapped genetic components. Phenotypic traits also include symptoms of, or susceptibility to, multifactorial diseases of which a component is or may be genetic, such as autoimmune diseases, inflammation, cancer, diseases of the nervous system, and infection by pathogenic microorganisms. Some examples of autoimmune diseases include rheumatoid arthritis, multiple sclerosis, diabetes (insulin-dependent and non-independent), systemic lupus erythematosus and Graves disease. Some examples of cancers include cancers of the bladder, brain, breast, colon, esophagus, kidney, leukemia, liver, lung, oral cavity, ovary, pancreas, prostate, skin, stomach and uterus. Phenotypic traits also include characteristics such as longevity, appearance (e.g., baldness, obesity), strength, speed, endurance, fertility, and susceptibility or receptivity to particular drugs or therapeutic treatments.  
     [0165] Correlation is performed for a population of individuals who have been tested for the presence or absence of a phenotypic trait of interest and for polymorphic markers sets. To perform such analysis, the presence or absence of a set of polymorphisms (i.e. a polymorphic set) is determined for a set of the individuals, some of whom exhibit a particular trait, and some of which exhibit lack of the trait. The alleles of each polymorphism of the set are then reviewed to determine whether the presence or absence of a particular allele is associated with the trait of interest. Correlation can be performed by standard statistical methods such as a  -squared test and statistically significant correlations between polymorphic form(s) and phenotypic characteristics are noted. For example, it might be found that the presence of allele A1 at polymorphism A correlates with heart disease. As a further example, it might be found that the combined presence of allele A1 at polymorphism A and allele B1 at polymorphism B correlates with increased milk production of a farm animal.  
     [0166] Such correlations can be exploited in several ways. In the case of a strong correlation between a set of one or more polymorphic forms and a disease for which treatment is available, detection of the polymorphic form set in a human or animal patient may justify immediate administration of treatment, or at least the institution of regular monitoring of the patient. Detection of a polymorphic form correlated with serious disease in a couple contemplating a family may also be valuable to the couple in their reproductive decisions. For example, the female partner might elect to undergo in vitro fertilization to avoid the possibility of transmitting such a polymorphism from her husband to her offspring. In the case of a weaker, but still statistically significant correlation between a polymorphic set and human disease, immediate therapeutic intervention or monitoring may not be justified. Nevertheless, the patient can be motivated to begin simple life-style changes (e.g., diet, exercise) that can be accomplished at little cost to the patient but confer potential benefits in reducing the risk of conditions to which the patient may have increased susceptibility by virtue of variant alleles. Identification of a polymorphic set in a patient correlated with enhanced receptiveness to one of several treatment regimes for a disease indicates that this treatment regime should be followed.  
     [0167] For animals and plants, correlations between characteristics and phenotype are useful for breeding for desired characteristics. For example, Beitz et al., U.S. Pat. No. 5,292,639 discuss use of bovine mitochondrial polymorphisms in a breeding program to improve milk production in cows. To evaluate the effect of mtDNA D-loop sequence polymorphism on milk production, each cow was assigned a value of 1 if variant or 0 if wild type with respect to a prototypical mitochondrial DNA sequence at each of 17 locations considered.  
     [0168] The previous section concerns identifying correlations between phenotypic traits and polymorphisms that directly or indirectly contribute to those traits. The present section describes identification of a physical linkage between a genetic locus associated with a trait of interest and polymorphic markers that are not associated with the trait, but are in physical proximity with the genetic locus responsible for the trait and co-segregate with it. Such analysis is useful for mapping a genetic locus associated with a phenotypic trait to a chromosomal position, and thereby cloning gene(s) responsible for the trait. See Lander et al.,  Proc. Natl. Acad. Sci.  (USA) 83, 7353-7357 (1986); Lander et al.,  Proc. Natl. Acad. Sci.  (USA) 84, 2363-2367 (1987); Donis-Keller et al.,  Cell  51, 319-337 (1987); Lander et al.,  Genetics  121, 185-199 (1989)). Genes localized by linkage can be cloned by a process known as directional cloning. See Wainwright,  Med. J. Australia  159, 170-174 (1993); Collins,  Nature Genetics  1, 3-6 (1992) (each of which is incorporated by reference in its entirety for all purposes).  
     [0169] Linkage studies are typically performed on members of a family. Available members of the family are characterized for the presence or absence of a phenotypic trait and for a set of polymorphic markers. The distribution of polymorphic markers in an informative meiosis is then analyzed to determine which polymorphic markers co-segregate with a phenotypic trait. See, e.g., Kerem et al.,  Science  245, 1073-1080 (1989); Monaco et al.,  Nature  316, 842 (1985); Yamoka et al.,  Neurology  40, 222-226 (1990); Rossiter et al.,  FASEB Journal  5, 21-27 (1991).  
     [0170] Linkage is analyzed by calculation of LOD (log of the odds) values. A lod value is the relative likelihood of obtaining observed segregation data for a marker and a genetic locus when the two are located at a recombination fraction  , versus the situation in which the two are not linked, and thus segregating independently (Thompson &amp; Thompson,  Genetics in Medicine  (5th ed, W. B. Saunders Company, Philadelphia, 1991); Strachan, “Mapping the human genome” in  The Human Genome  (BIOS Scientific Publishers Ltd, Oxford), Chapter 4). A series of likelihood ratios are calculated at various recombination fractions ( ), ranging from  =0.0 (coincident loci) to  =0.50 (unlinked). Thus, the likelihood at a given value of   is: probability of data if loci linked at   to probability of data if loci unlinked. The computed likelihood is usually expressed as the log 10  of this ratio (i.e., a lod score). For example, a lod score of 3 indicates 1000:1 odds against an apparent observed linkage being a coincidence. The use of logarithms allows data collected from different families to be combined by simple addition. Computer programs are available for the calculation of lod scores for differing values of   (e.g., LIPED, MLINK (Lathrop,  Proc. Nat. Acad. Sci.  (USA) 81, 3443-3446 (1984)). For any particular lod score, a recombination fraction may be determined from mathematical tables. See Smith et al.,  Mathematical tables for research workers in human genetics  (Churchill, London, 1961); Smith,  Ann. Hum. Genet.  32, 127-150 (1968). The value of   at which the lod score is the highest is considered to be the best estimate of the recombination fraction.  
     [0171] Positive lod score values suggest that the two loci are linked, whereas negative values suggest that linkage is less likely (at that value of  ) than the possibility that the two loci are unlinked. By convention, a combined lod score of +3 or greater (equivalent to greater than 1000:1 odds in favor of linkage) is considered definitive evidence that two loci are linked. Similarly, by convention, a negative lod score of −2 or less is taken as definitive evidence against linkage of the two loci being compared. Negative linkage data are useful in excluding a chromosome or a segment thereof from consideration. The search focuses on the remaining non-excluded chromosomal locations.  
     [0172] The invention further provides transgenic nonhuman animals capable of expressing an exogenous variant gene and/or having one or both alleles of an endogenous variant gene inactivated. Expression of an exogenous variant gene is usually achieved by operably linking the gene to a promoter and optionally an enhancer, and microinjecting the construct into a zygote. See Hogan et al., “Manipulating the Mouse Embryo, A Laboratory Manual,” Cold Spring Harbor Laboratory. (1989). Inactivation of endogenous variant genes can be achieved by forming a transgene in which a cloned variant gene is inactivated by insertion of a positive selection marker. See Capecchi, Science 244, 1288-1292 The transgene is then introduced into an embryonic stem cell, where it undergoes homologous recombination with an endogenous variant gene. Mice and other rodents are preferred animals. Such animals provide useful drug screening systems.  
     [0173] The invention further provides methods for assessing the pharmacogenomic susceptibility of a subject harboring a single nucleotide polymorphism to a particular pharmaceutical compound, or to a class of such compounds. Genetic polymorphism in drug-metabolizing enzymes, drug transporters, receptors for pharmaceutical agents, and other drug targets have been correlated with individual differences based on distinction in the efficacy and toxicity of the pharmaceutical agent administered to a subject. Pharmocogenomic characterization of a subjects susceptibility to a drug enhances the ability to tailor a dosing regimen to the particular genetic constitution of the subject, thereby enhancing and optimizing the therapeutic effectiveness of the therapy.  
     [0174] In cases in which a cSNP leads to a polymorphic protein that is ascribed to be the cause of a pathological condition, method of treating such a condition includes administering to a subject experiencing the pathology the wild type cognate of the polymorphic protein. Once administered in an effective dosing regimen, the wild type cognate provides complementation or remediation of the defect due to the polymorphic protein. The subject&#39;s condition is ameliorated by this protein therapy.  
     [0175] A subject suspected of suffering from a pathology ascribable to a polymorphic protein that arises from a cSNP is to be diagnosed using any of a variety of diagnostic methods capable of identifying the presence of the cSNP in the nucleic acid, or of the cognate polymorphic protein, in a suitable clinical sample taken from the subject. Once the presence of the cSNP has been ascertained, and the pathology is correctable by administering a normal or wild-type gene, the subject is treated with a pharmaceutical composition that includes a nucleic acid that harbors the correcting wild-type gene, or a fragment containing a correcting sequence of the wild-type gene. Non-limiting examples of ways in which such a nucleic acid may be administered include incorporating the wild-type gene in a viral vector, such as an adenovirus or adeno associated virus, and administration of a naked DNA in a pharmaceutical composition that promotes intracellular uptake of the administered nucleic acid. Once the nucleic acid that includes the gene coding for the wild-type allele of the polymorphism is incorporated within a cell of the subject, it will initiate de novo biosynthesis of the wild-type gene product. If the nucleic acid is further incorporated into the genome of the subject, the treatment will have long-term effects, providing de novo synthesis of the wild-type protein for a prolonged duration. The synthesis of the wild-type protein in the cells of the subject will contribute to a therapeutic enhancement of the clinical condition of the subject.  
     [0176] A subject suffering from a pathology ascribed to a SNP may be treated so as to correct the genetic defect. (See Kren et al., Proc. Natl. Acad. Sci. USA 96:10349-10354 (1999)). Such a subject is identified by any method that can detect the polymorphism in a sample drawn from the subject. Such a genetic defect may be permanently corrected by administering to such a subject a nucleic acid fragment incorporating a repair sequence that supplies the wild-type nucleotide at the position of the SNP. This site-specific repair sequence encompasses an RNA/DNA oligonucleotide which operates to promote endogenous repair of a subject&#39;s genomic DNA. Upon administration in an appropriate vehicle, such as a complex with polyethylenimine or encapsulated in anionic liposomes, a genetic defect leading to an inborn pathology may be overcome, as the chimeric oligonucleotides induces incorporation of the wild-type sequence into the subject&#39;s genome. Upon incorporation, the wild-type gene product is expressed, and the replacement is propagated, thereby engendering a permanent repair.  
     [0177] The invention further provides kits comprising at least one allele-specific oligonucleotide as described above. Often, the kits contain one or more pairs of allele-specific oligonucleotides hybridizing to different forms of a polymorphism. In some kits, the allele-specific oligonucleotides are provided immobilized to a substrate. For example, the same substrate can comprise allele-specific oligonucleotide probes for detecting at least 10, 100, 1000 or all of the polymorphisms shown in the Table. Optional additional components of the kit include, for example, restriction enzymes, reverse-transcriptase or polymerase, the substrate nucleoside triphosphates, means used to label (for example, an avidin-enzyme conjugate and enzyme substrate and chromogen if the label is biotin), and the appropriate buffers for reverse transcription, PCR, or hybridization reactions. Usually, the kit also contains instructions for carrying out the hybridizing methods.  
     [0178] Several aspects of the present invention rely on having available the polymorphic proteins encoded by the nucleic acids comprising a SNP of the inventions. There are various methods of isolating these nucleic acid sequences. For example, DNA is isolated from a genomic or cDNA library using labeled oligonucleotide probes having sequences complementary to the sequences disclosed herein.  
     [0179] Such probes can be used directly in hybridization assays. Alternatively probes can be designed for use in amplification techniques such as PCR.  
     [0180] To prepare a cDNA library, mRNA is isolated from tissue such as heart or pancreas, preferably a tissue wherein expression of the gene or gene family is likely to occur. cDNA is prepared from the mRNA and ligated into a recombinant vector. The vector is transfected into a recombinant host for propagation, screening and cloning. Methods for making and screening cDNA libraries are well known, See Gubler, U. and Hoffman, B. J. Gene 25:263-269 (1983) and Sambrook et al.  
     [0181] For a genomic library, for example, the DNA is extracted from tissue and either mechanically sheared or enzymatically digested to yield fragments of about 12-20 kb. The fragments are then separated by gradient centrifugation from undesired sizes and are constructed in bacteriophage lambda vectors. These vectors and phage are packaged in vitro, as described in Sambrook, et al. Recombinant phage are analyzed by plaque hybridization as described in Benton and Davis,  Science  196:180-1 82 (1977). Colony hybridization is carried out as generally described in M. Grunstein et al. Proc. Natl. Acad. Sci. USA. 72:3961-3965 (1975). DNA of interest is identified in either cDNA or genomic libraries by its ability to hybridize with nucleic acid probes, for example on Southern blots, and these DNA regions are isolated by standard methods familiar to those of skill in the art. See Sambrook, et al.  
     [0182] In PCR techniques, oligonucleotide primers complementary to the two 3′ borders of the DNA region to be amplified are synthesized. The polymerase chain reaction is then carried out using the two primers. See PCR Protocols: a Guide to Methods and Applications (Innis, M, Gelfand, D., Sninsky, J. and White, T., eds.), Academic Press, San Diego (1990). Primers can be selected to amplify the entire regions encoding a full-length sequence of interest or to amplify smaller DNA. segments as desired. PCR can be used in a variety of protocols to isolate cDNA&#39;s encoding a sequence of interest. In these protocols, appropriate primers and probes for amplifying DNA encoding a sequence of interest are generated from analysis of the DNA sequences listed herein. Once such regions are PCR-amplified, they can be sequenced and oligonucleotide probes can be prepared from the sequence.  
     [0183] Once DNA encoding a sequence comprising a cSNP is isolated and cloned, one can express the encoded polymorphic proteins in a variety of recombinantly engineered cells. It is expected that those of skill in the art are knowledgeable in the numerous expression systems available for expression of DNA encoding a sequence of interest. No attempt to describe in detail the various methods known for the expression of proteins in prokaryotes or eukaryotes is made here.  
     [0184] In brief summary, the expression of natural or synthetic nucleic acids encoding a sequence of interest will typically be achieved by operably linking the DNA or cDNA to a promoter (which is either constitutive or inducible), followed by incorporation into an expression vector. The vectors can be suitable for replication and integration in either prokaryotes or eukaryotes. Typical expression vectors contain, initiation sequences, transcription and translation terminators, and promoters useful for regulation of the expression of a polynucleotide sequence of interest. To obtain high level expression of a cloned gene, it is desirable to construct expression plasmids which contain, at the minimum, a strong promoter to direct transcription, a ribosome binding site for translational initiation, and a transcription/translation terminator. The expression vectors may also comprise generic expression cassettes containing at least one independent terminator sequence, sequences permitting replication of the plasmid in both eukaryotes and prokaryotes, i.e., shuttle vectors, and selection markers for both prokaryotic and eukaryotic systems. See Sambrook et al.  
     [0185] A variety of prokaryotic expression systems may be used to express the polymorphic proteins of the invention. Examples include  E. coli,  Bacillus, Streptomyces, and the like.  
     [0186] It is preferred to construct expression plasmids which contain, at the minimum, a strong promoter to direct transcription, a ribosome binding site for translational initiation, and a transcription/translation terminator. Examples of regulatory regions suitable for this purpose in  E. coli  are the promoter and operator region of the  E. coli  tryptophan biosynthetic pathway as described by Yanofsky, C., J. Bacterial. 158:1018-1024 (1984) and the leftward promoter of phage lambda (P□) as described by Λ, I. and Hagen, D.,  Ann. Rev. Genet.  14:399-445 (1980). The inclusion of selection markers in DNA vectors transformed in  E. coli  is also useful. Examples of such markers include genes specifying resistance to ampicillin, tetracycline, or chloramphenicol. See Sambrook et al. for details concerning selection markers for use in  E. coli.    
     [0187] To enhance proper folding of the expressed recombinant protein, during purification from  E. coli,  the expressed protein may first be denatured and then renatured. This can be accomplished by solubilizing the bacterially produced proteins in a chaotropic agent such as guanidine HCI and reducing all the cysteine residues with a reducing agent such as beta-mercaptoethanol. The protein is then renatured, either by slow dialysis or by gel filtration. See U.S. Pat. No. 4,511,503. Detection of the expressed antigen is achieved by methods known in the art as radioimmunoassay, or Western blotting techniques or immunoprecipitation. Purification from  E. coli  can be achieved following procedures such as those described in U.S. Pat. No. 4,511,503.  
     [0188] Any of a variety of eukaryotic expression systems such as yeast, insect cell lines, bird, fish, and mammalian cells, may also be used to express a polymorphic protein of the invention. As explained briefly below, a nucleotide sequence harboring a cSNP may be expressed in these eukaryotic systems. Synthesis of heterologous proteins in yeast is well known.  Methods in Yeast Genetics,  Sherman, F., et al., Cold Spring Harbor Laboratory, (1982) is a well recognized work describing the various methods available to produce the protein in yeast. Suitable vectors usually have expression control sequences, such as promoters, including 3-phosphogtycerate kinase or other glycolytic enzymes, and an origin of replication, termination sequences and the like as desired. For instance, suitable vectors are described in the literature (Botstein, et al., Gene 8:17-24 (1979); Broach, et al., Gene 8:121-133 (1979)).  
     [0189] Two procedures are used in transforming yeast cells. In one case, yeast cells are first converted into protoplasts using zymolyase, lyticase or glusulase, followed by addition of DNA and polyethylene glycol (PEG). The PEG-treated protoplasts are then regenerated in a 3% agar medium under selective conditions. Details of this procedure are given in the papers by J. D. Beggs, Nature (London) 275:104-109 (1978); and Hinnen, A., et al., Proc. Natl. Acad. Sci. USA, 75:1929-1933 (1978). The second procedure does not involve removal of the cell wall. Instead the cells are treated with lithium chloride or acetate and PEG and put on selective plates (Ito, H., et al., J. Bact, 153163-168 (1983)). cells and applying standard protein isolation techniques to the lysates:.  
     [0190] The purification process can be monitored by using Western blot techniques or radioimmunoassay or other standard techniques. The sequences encoding the proteins of the invention can also be ligated to various immunoassay expression vectors for use in transforming cell cultures of, for instance, mammalian, insect, bird or fish origin. Illustrative of cell cultures useful for the production of the polypeptides are mammalian cells. Mammalian cell systems often will be in the form of monolayers of cells although mammalian cell suspensions may also be used. A number of suitable host cell lines capable of expressing intact proteins have been developed in the art, and include the HEK293, BHK21, and CHO cell lines, and various human cells such as COS cell lines, HeLa cells, myeloma cell lines, Jurkat cells, etc. Expression vectors for these cells can include expression control sequences, such as an origin of replication, a promoter (e.g., the CMV promoter, a HSV tk promoter or pgk (phosphoglycerate kinase) promoter), an enhancer (Queen et al.  Immunol. Rev,  89:49 (1986)) and necessary processing information sites, such as ribosome binding sites, RNA splice sites, polyadenylation sites (e.g., an SV40 large T Ag poly A addition site), and transcriptional terminator sequences.  
     [0191] Other animal cells are available, for instance, from the American Type Culture Collection Catalogue of Cell Lines and Hybridomas (7th edition, (1992)). Appropriate vectors for expressing the proteins of the invention in insect cells are usually derived from baculovirus. Insect cell lines include mosquito larvae, silkworm, armyworm, moth and Drosophila cell lines such as a Schneider cell line (See Schneider J. Embryol. Exp. Morphol., 27:353-365 (1987). As indicated above, the vector, e.g., a plasmid, which is used to transform the host cell, preferably contains DNA sequences to initiate transcription and sequences to control the translation of the protein. These sequences are referred to as expression control sequences. As with yeast, when higher animal host cells are employed, polyadenylation or transcription terminator sequences from known mammalian genes need to be incorporated into the vector. An example of a terminator sequence is the polyadenylation sequence from the bovine growth hormone gene. Sequences for accurate splicing of the transcript may also be included. An example of a splicing sequence is the VP1 intron from SV4O (Sprague, J. et a/., J. Virol. 45: 773-781 (1983)). Additionally, gene sequences to control replication in the host cell may be Saveria-Campo, M., 1985, “Bovine Papilloma virus DNA a Eukaryotic Cloning Vector” in DNA Cloning  Vol. II a Practical Approach  Ed. D. M. Glover, IRL Press, Arlington, Va. pp. 213-238. The host cells are competent or rendered competent for transformation by various means. There are several well-known methods of introducing DNA into animal cells. These include: calcium phosphate precipitation, fusion of the recipient cells with bacterial protoplasts containing the DNA, treatment of the recipient cells with liposomes containing the DNA, DEAE dextran, electroporation and micro-injection of the DNA directly into the cells.  
     [0192] The transformed cells are cultured by means well known in the art (Biochemical Methods in Cell Culture and Virology, Kuchler, R. J., Dowden, Hutchinson and Ross, Inc., (1977)). The expressed polypeptides are isolated from cells grown as suspensions or as monolayers. The latter are recovered by well known mechanical, chemical or enzymatic means.  
     [0193] General methods of expressing recombinant proteins are also known and are exemplified in R. Kaufman, Methods in Enzymology 185, 537-566 (1990). As defined herein “operably linked” refers to linkage of a promoter upstream from a DNA sequence such that the promoter mediates transcription of the DNA sequence. Specifically, “operably linked” means that the isolated polynucleotide of the invention and an expression control sequence are situated within a vector or cell in such a way that the gene encoding the protein is expressed by a host cell which has been transformed (transfected) with the ligated polynucleotide/expression sequence. The term “vector”, refers to viral expression systems, autonomous self-replicating circular DNA (plasmids), and includes both expression and nonexpression plasmids.  
     [0194] The term “gene” as used herein is intended to refer to a nucleic acid sequence which encodes a polypeptide. This definition includes various sequence polymorphisms, mutations, and/or sequence variants wherein such alterations do not affect the function of the gene product. The term “gene” is intended to include not only coding sequences but also regulatory regions such as promoters, enhancers, termination regions and similar untranslated nucleotide sequences. The term further includes all introns and other DNA sequences spliced from the mRNA transcript, along with variants resulting from alternative splice sites.  
     [0195] A number of types of cells may act as suitable host cells for expression of the protein. Mammalian host cells include, for example, monkey COS cells, Chinese Hamster Ovary (CHO) cells, human kidney 293 cells, human epidermal A43 1 cells, human Co10205 cells, 3T3 cells, CV-1 cells, other transformed primate cell lines, normal diploid cells, cell strains derived from in vitro culture of primary tissue, primary explants, HeLa cells, mouse L cells, BHK, HL-60, U937, HaK or Jurkat cells. Alternatively, it may be possible to produce the protein in lower eukaryotes such as yeast or in prokaryotes such as bacteria. Potentially suitable yeast strains include  Saccharomyces cerevisiae, Schizosaccharomyces pombe,  Kluyveromyces strains, Candida or any yeast strain capable of expressing heterologous proteins. Potentially suitable bacterial strains include  Escherichia coli, Bacillus subtilis, Salmonella typhimurium,  or any bacterial strain capable of expressing heterologous proteins. If the protein is made in yeast or bacteria, it may be necessary to modify the protein produced therein, for example by phosphorylation or glycosylation of the appropriate sites, in order to obtain the functional protein.  
     [0196] The protein may also be produced by operably linking the isolated polynucleotide of the invention to suitable control sequences in one or more insect expression vectors, and employing an insect expression system. Materials and methods for baculovirus/insect cell expression systems are commercially available in kit form from, e.g., Invitrogen, San Diego, Calif., U.S.A. (the MaxBac© kit), and such methods are well known in the art, as described in Summers and Smith, Texas Agricultural Experiment Station Bulletin No. 1555 (1987), incorporated herein by reference. As used herein, an insect cell capable of expressing-a polynucleotide of the present invention is “transformed.” The protein of the invention may be prepared by culturing transformed host cells under culture conditions suitable to express the recombinant protein.  
     [0197] The polymorphic protein of the invention may also be expressed as a product of transgenic animals, e.g., as a component of the milk of transgenic cows, goats, pigs, or sheep which are characterized by somatic or germ cells containing a nucleotide sequence encoding the protein. The protein may also be produced by known conventional chemical synthesis. Methods for constructing the proteins of the present invention by synthetic means are known to those skilled in the art.  
     [0198] The polymorphic proteins produced by recombinant DNA technology may be purified by techniques commonly employed to isolate or purify recombinant proteins. Recombinantly produced proteins can be directly expressed or expressed as a fusion protein. The protein is then purified by a combination of cell lysis (e.g., sonication) and affinity chromatography. For fusion products, subsequent digestion of the fusion protein with an appropriate proteolytic enzyme releases the desired polypeptide. The polypeptides of this invention may be purified to substantial purity by standard techniques well known in the art, including selective precipitation with such substances as ammonium sulfate, column chromatography, immunopurification methods, and others. See, for instance, R. Scopes, Protein Purification: Principles and Practice, Springer-Verlag: New York (1982), incorporated herein by reference. For example, in an embodiment, antibodies may be raised to the proteins of the invention as described herein. Cell membranes are isolated from a cell line expressing the recombinant protein, the protein is extracted from the membranes and immunoprecipitated. The proteins may then be further purified by standard protein chemistry techniques as described above.  
     [0199] The resulting expressed protein may then be purified from such culture (i.e., from culture medium or cell extracts) using known purification processes, such as gel filtration and ion exchange chromatography. The purification of the protein may also include an affinity column containing agents which will bind to the protein; one or more column steps over such affinity resins as concanavalin A-agarose, heparin-Toyopearl@ or Cibacrom blue 3GA Sepharose B; one or more steps involving hydrophobic interaction chromatography using such resins as phenyl ether, butyl ether, or propyl ether; or immunoaffinity chromatography. Alternatively, the protein of the invention may also be expressed in a form which will facilitate purification. For example, it may be expressed as a fusion protein, such as those of maltose binding protein (MBP), glutathione-S-transferase (GST) or thioredoxin (TRX). Kits for expression and purification of such fusion proteins are commercially available from New England BioLab (Beverly, Mass.), Pharmacia (Piscataway, N.J.) and InVitrogen, respectively. The protein can also be tagged with an epitope and subsequently purified by using a specific antibody directed to such epitope. One such epitope (“Flag”) is commercially available from Kodak (New Haven, Conn.). Finally, one or more reverse-phase high performance liquid chromatography (RP-HPLC) steps employing hydrophobic RP-HPLC media, e.g., silica gel having pendant methyl or other aliphatic groups, can be employed to further purify the protein. Some or all of the foregoing purification steps, in various combinations, can also be employed to provide a substantially homogeneous isolated recombinant protein. The protein thus purified is substantially free of other mammalian proteins and is defined in accordance with the present invention as an “isolated protein.” 
     [0200] The term “antibody” as used herein refers to immunoglobulin molecules and immunologically active portions of immunoglobulin molecules, i.e., molecules that contain an antigen binding site that specifically binds (immunoreacts with) an antigen, such as polymorphic. Such antibodies include, but are not limited to, polyclonal, monoclonal, chimeric, single chain, F ab  and F (ab′)2  fragments, and an F ab  expression library. In a specific embodiment, antibodies to human polymorphic proteins are disclosed.  
     [0201] The phrase “specifically binds to”, “immunospecifically binds to” or is “specifically immunoreactive with”, an antibody when referring to a protein or peptide, refers to a binding reaction which is determinative of the presence of the protein in the presence of a heterogeneous population of proteins and other biological materials. Thus, for example, under designated immunoassay conditions, the specified antibodies bind to a particular protein and do not bind in a significant amount to other proteins present in the sample. Specific binding to an antibody under such conditions may require an antibody that is selected for its specificity for a particular protein. Of particular interest in the present invention is an antibody that binds immunospecifically to a polymorphic protein but not to its cognate wild type allelic protein, or vice versa. A variety of immunoassay formats may be used to select antibodies specifically immunoreactive with a particular protein. For example, solid-phase ELISA immunoassays are routinely used to select monoclonal antibodies specifically immunoreactive with a protein. See Harlow and Lane (1988) Antibodies, a Laboratory Manual, Cold Spring Harbor Publications, New York, for a description of immunoassay formats and conditions that can be used to determine specific immunoreactivity.  
     [0202] Polyclonal and/or monoclonal antibodies that immunospecifically bind to polymorphic gene products but not to the corresponding prototypical or “wild-type” gene products are also provided. Antibodies can be made by injecting mice or other animals with the variant gene product or synthetic peptide. Monoclonal antibodies are screened as are described, for example, in Harlow &amp; Lane, Antibodies, A Laboratory Manual, Cold Spring Harbor Press, New York (1988); Goding, Monoclonal antibodies, Principles and Practice (2d ed.) Academic Press, New York (1986). Monoclonal antibodies are tested for specific immunoreactivity with a variant gene product and lack of immunoreactivity to the corresponding prototypical gene product.  
     [0203] An isolated polymorphic protein, or a portion or fragment thereof, can be used as an immunogen to generate the antibody that bind the polymorphic protein using standard techniques for polyclonal and monoclonal antibody preparation. The full-length polymorphic protein can be used or, alternatively, the invention provides antigenic peptide fragments of polymorphic for use as immunogens. The antigenic peptide of a polymorphic protein of the invention comprises at least 8 amino acid residues of the amino acid sequence encompassing the polymorphic amino acid and encompasses an epitope of the polymorphic protein such that an antibody raised against the peptide forms a specific immune complex with the polymorphic protein. Preferably, the antigenic peptide comprises at least 10 amino acid residues, more preferably at least 15 amino acid residues, even more preferably at least 20 amino acid residues, and most preferably at least 30 amino acid residues. Preferred epitopes encompassed by the antigenic peptide are regions of polymorphic that are located on the surface of the protein, e.g., hydrophilic regions.  
     [0204] For the production of polyclonal antibodies, various suitable host animals (e.g., rabbit, goat, mouse or other mammal) may be immunized by injection with the polymorphic protein. An appropriate immunogenic preparation can contain, for example, recombinantly expressed polymorphic protein or a chemically synthesized polymorphic polypeptide. The preparation can further include an adjuvant. Various adjuvants used to increase the immunological response include, but are not limited to, Freund&#39;s (complete and incomplete), mineral gels (e.g., aluminum hydroxide), surface active substances (e.g., lysolecithin, pluronic polyols, polyanions, peptides, oil emulsions, dinitrophenol, etc.), human adjuvants such as Bacille Calmette-Guerin and  Corynebacterium parvum,  or similar immunostimulatory agents. If desired, the antibody molecules directed against polymorphic proteins can be isolated from the mammal (e.g., from-the blood) and further purified by well known techniques, such as protein A chromatography, to obtain the IgG fraction.  
     [0205] The term “monoclonal antibody” or “monoclonal antibody composition”, as used herein, refers to a population of antibody molecules that originates from the clone of a singly hybridoma cell, and that contains only one type of antigen binding site capable of immunoreacting with a particular epitope of a polymorphic protein. A monoclonal antibody composition thus typically displays a single binding affinity for a particular polymorphic protein with which it immunoreacts. For preparation of monoclonal antibodies directed towards a particular polymorphic protein, or derivatives, fragments, analogs or homologs thereof, any technique that provides for the production of antibody molecules by continuous cell line culture may be utilized. Such techniques include, but are not limited to, the hybridoma technique (see Kohler &amp; Milstein, 1975  Nature  256: 495-497); the trioma technique; the human B-cell hybridoma technique (see Kozbor, et al., 1983  Immunol Today  4: 72) and the EBV hybridoma technique to produce human monoclonal antibodies (see Cole, et al., 1985 In: MONOCLONAL ANTIBODIES AND CANCER THERAPY, Alan R. Liss, Inc., pp. 77-96). Human monoclonal antibodies may be utilized in the practice of the present invention and may be produced by using human hybridomas (see Cote, et al., 1983.  Proc Natl Acad Sci USA  80: 2026-2030) or by transforming human B-cells with Epstein Barr Virus in vitro (see Cole, et al., 1985 In: MONOCLONAL ANTIBODIES AND CANCER THERAPY, Alan R. Liss, Inc., pp. 77-96).  
     [0206] According to the invention, techniques can be adapted for the production of single-chain antibodies specific to a polymorphic protein (see e.g., U.S. Pat. No. 4,946,778). In addition, methodologies can be adapted for the construction of Fab expression libraries (see e.g., Huse, et al., 1989  Science  246: 1275-1281) to allow rapid and effective identification of monoclonal Fab fragments with the desired specificity for a polymorphic protein or derivatives, fragments, analogs or homologs thereof. Non-human antibodies can be “humanized” by techniques well known in the art. See e.g., U.S. Pat. No. 5,225,539. Antibody fragments that contain the idiotypes to a polymorphic protein may be produced by techniques known in the art including, but not limited to: (i) an F (ab′)2  fragment produced by pepsin digestion of an antibody molecule; (ii) an F ab  fragment generated by reducing the disulfide bridges of an F (ab′)2  fragment; (iii) an F ab  fragment generated by the treatment of the antibody molecule with papain and a reducing agent and (iv) F v  fragments.  
     [0207] Additionally, recombinant anti-polymorphic protein antibodies, such as chimeric and humanized monoclonal antibodies, comprising both human and non-human portions, which can be made using standard recombinant DNA techniques, are within the scope of the invention. Such chimeric and humanized monoclonal antibodies can be produced by recombinant DNA techniques known in the art, for example using methods described in PCT International Application No. PCT/US86/02269; European Patent Application No. 184,187; European Patent Application No. 171,496; European Patent Application No. 173,494; PCT International Publication No. WO 86/01533; U.S. Pat. No. 4,816,567; European Patent Application No. 125,023; Better et al. (1988)  Science  240:1041-1043; Liu et al. (1987)  PNAS  84:3439-3443; Liu et al. (1987)  J Immunol.  139:3521-3526; Sun et al. (1987)  PNAS  84:214-218; Nishimura et al. (1987)  Cancer Res  47:999-1005; Wood et al. (1985)  Nature  314:446-449; Shaw et al. (1988)  J Natl Cancer Inst  80:1553-1559); Morrison(1985)  Science  229:1202-1207; Oi et al. (1986)  BioTechniques  4:214; U.S. Pat. No. 5,225,539; Jones et al. (1986)  Nature  321:552-525; Verhoeyan et al. (1988)  Science  239:1534; and Beidler et al. (1988)  J Immunol  141:4053-4060.  
     [0208] In one embodiment, methodologies for the screening of antibodies that possess the desired specificity include, but are not limited to, enzyme-linked immunosorbent assay (ELISA) and other immunologically-mediated techniques known within the art.  
     [0209] Anti-polymorphic protein antibodies may be used in methods known within the art relating to the detection, quantitation and/or cellular or tissue localization of a polymorphic protein (e.g., for use in measuring levels of the polymorphic protein within appropriate physiological samples, for use in diagnostic methods, for use in imaging the protein, and the like). In a given embodiment, antibodies for polymorphic proteins, or derivatives, fragments, analogs or homologs thereof, that contain the antibody-derived CDR, are utilized as pharmacologically-active compounds in therapeutic applications intended to treat a pathology in a subject that arises from the presence of the cSNP allele in the subject.  
     [0210] An anti-polymorphic protein antibody (e.g., monoclonal antibody) can be used to isolate polymorphic proteins by a variety of immunochemical techniques, such as immunoaffinity chromatography or immunoprecipitation. An anti-polymorphic protein antibody can facilitate the purification of natural polymorphic protein from cells and of recombinantly produced polymorphic proteins expressed in host cells. Moreover, an anti-polymorphic protein antibody can be used to detect polymorphic protein (e.g., in a cellular lysate or cell supernatant) in order to evaluate the abundance and pattern of expression of the polymorphic protein. Anti-polymorphic antibodies can be used diagnostically to monitor protein levels in tissue as part of a clinical testing procedure, e.g., to, for example, determine the efficacy of a given treatment regimen. Detection can be facilitated by coupling (i.e., physically linking) the antibody to a detectable substance. Examples of detectable substances include various enzymes, prosthetic groups, fluorescent materials, luminescent materials, bioluminescent materials, and radioactive materials. Examples of suitable enzymes include horseradish peroxidase, alkaline phosphatase, β-galactosidase, or acetylcholinesterase; examples of suitable prosthetic group complexes include streptavidin/biotin and avidintbiotin; examples of suitable fluorescent materials include umbelliferone, fluorescein, fluorescein isothiocyanate, rhodamine, dichlorotriazinylamine fluorescein, dansyl chloride or phycoerythrin; an example of a luminescent material includes luminol; examples of bioluminescent materials include luciferase, luciferin, and aequorin, and examples of suitable radioactive material include  125 I,  131 I,  35 S or  3 H.  
                                                               TABLE 1                                                                                       Base                           Protein       Similiarity               pos.               Amino   Amino       classification   Name of protein identified following a   (pValue)       Seq   CuraGen   of   Polymorphic   Base   Base   acid   acid   Type of   of CuraGen   BLASTX analysis of the CuraGen   following a   Map       ID   sequence ID   SNP   sequence   before   after   before   after   change   gene   sequence   BLASTX analysis   location                                                                                    1   cg43936936   430   GGAGGCTGC   A   G   Glu   Glu   SILENT-   ATPase_associated   Human Gene SWISSPROT-ID: P52915   1.60E−211   17                   AGGCACAGA                   CODING       26S PROTEASE REGULATORY                   GGAACGA[A/                           SUBUNIT 8 (MSUG1 PROTEIN) (TAT-                   G]CTAAATGC                           BINDING PROTEIN HOMOLOG 10)                   TAAAGTTCGC                           (TBP10) (P45/SUG) -  MUS MUSCULUS                     CTATTGC                           (MOUSE),  RATTUS NORVEGICUS                                                 (RAT), AND  SUS SCROFA  (PIG), 406                                               aa.       2   cg43945992   414   TGTCTCTAGG   C   T   Phe   Phe   SILENT-   ATPase_associated   Human Gene SWISSPROT-ID: P13686   1.10E−173   19                   GGACAATTTT                   CODING       TARTRATE-RESISTANT ACID       (19p13.3)                   TACTT[C/T]AC                           PHOSPHATASE TYPE 5 PRECURSOR                   TGGTGTGCA                           (EC 3.1.3.2) (TR-AP) (TARTRATE-                   AGACATCAAT                           RESISTANT ACID ATPASE)                   GACA                           (TRATPASE) -  HOMO SAPIENS                                                 (HUMAN), 323 aa.       3   cg43284434   2354   TGGAAAACC   A   G   Gly   Gly   SILENT-   ATPase_associated   Human Gene Homologous to   4.00E−121    6                   ATTGCAGAGT                   CODING       SPTREMBL-ID: Q18788 C52E4.5 -                   GAATGG[A/G]                             CAENORHABDITIS ELEGANS , 590 aa.                   GGCTATTCAG                   GCCTAAGGG       4   cg43977440   526   TAAATGAATC   A   G           SILENT-   cadherin   Human Gene SWISSPROT-ID: P11215   0   16                   CAGAAAGGA                   NONCODING       CELL SURFACE GLYCOPROTEIN       (16p11.2)                   AGCTTC[A/G]                           MAC-1 ALPHA SUBUNIT PRECURSOR                   TCATTCCTCA                           (CR-3 ALPHA CHAIN) (CD11B)                   GTGGGCATC                           (LEUKOCYTE ADHESION RECEPTOR                   TTTATT                           MO1) (INTEGRIN ALPHA-M)                                               (NEUTROPHIL ADHERENCE                                               RECEPTOR)  HOMO SAPIENS                                                 (HUMAN), 1152 aa.       5   cg43977440   578   GGCATCAGC   C   T           SILENT-   cadherin   Human Gene SWISSPROT-ID: P11215   0   16                   GCTGGTGTG                   NONCODING       CELL SURFACE GLYCOPROTEIN       (16p11.2)                   GAGGAGG[C/                           MAC-1 ALPHA SUBUNIT PRECURSOR                   T]TCCTGGTT                           (CR-3 ALPHA CHAIN) (CD11B)                   CCACCCACG                           (LEUKOCYTE ADHESION RECEPTOR                   GCTTCTCA                           MO1) (INTEGRIN ALPHA-M)                                               (NEUTROPHIL ADHERENCE                                               RECEPTOR) -  HOMO SAPIENS                                                 (HUMAN), 1152 aa.       6   cg42094333   1051   TTGGAAATGA   A   G           SILENT-   cathepsin   Human Gene Homologous to   3.50E−113   19                   CCAGGCCAA                   NONCODING       SWISSPROT-ID: P20151 GLANDULAR       (19q13)                   GACTCA[A/G]                           KALLIKREIN 2 PRECURSOR (EC                   GCCTCCCCA                           3.4.21.35) (TISSUE KALLIKREIN)                   GTTCTACTGA                           (PROSTATE) (HGK-1) -  HOMO                     CCTTTG                             SAPIENS  (HUMAN), 261 aa.       7   cg43925458   2777   CAAAAGTCAC   G   A           SILENT-   cathepsinin   Human Gene SWISSPROT-ID: P20810   0   5 (5q15)                   CATCCACCA                   NONCODING   hib   CALPAIN INHIBITOR (CALPASTATIN)                   GCTGAA[G/A]                           (SPERM BS-17 COMPONENT) -  HOMO                     ATTTTACATG                             SAPIENS  (HUMAN), 708 aa.                   CAGATACCA       8   cg43970982   2277   GGAGAGACG   A   G   Gly   Gly   SILENT-   collagen   Human Gene SWISSPROT-ID: P12111   0    2                   GAGTTGGCA                   CODING       COLLAGEN ALPHA 3(VI) CHAIN                   GTGAAGG[A/                           PRECURSOR  HOMO SAPIENS                     G]CGCAGAG                           (HUMAN), 3176 aa.                   GCAAAAAAG                   GAGAAAGAG       9   cg43933757   3349   AACTCCTGAC   T   C           SILENT-   complement   Human Gene SWISSPROT-ID: P10643   0   5 (5p13)                   CTCAGGTAAT                   NONCODING       COMPLEMENT COMPONENT C7                   CCGCC[T/C]G                           PRECURSOR -  HOMO SAPIENS                     CCTTGGCCT                           (HUMAN), 843 aa.                   CCCAAAGTG                   CTGGGA       10   cg32296860   373   TCCCAGCAC   G   A           SILENT-   cytochrome   Human Gene Homologous to   6.60E−124                   TTTGGGAGG                   NONCODING       SPTREMBL-ID: Q27524 CYTOCHROME                   CCGAGGC[G/                           C OXIDASE POLYPEPTIDE II (EC                   A]GGTGGATC                           1.9.3.1) -  CAENORHABDITIS                     ACCCGAGGT                             ELEGANS , 1647 aa (fragment).                   CAGGAGTT       11   cg39523614   615   GAGGGCACG   G   A   Leu   Leu   SILENT-   dehydrogenase   Human Gene Similar to SWISSPROT-   2.10E−76                   GTCTGAGTG                   CODING       ID: P46703 ACYL-COA                   TGCTTT[G/A]                           DEHYDROGENASE (EC 1.3.99.-) -                   GGTACGCTT                             MYCOBACTERIUM LEPRAE , 389 aa.                   GACAACTCTC       12   cg39523614   627   TGAGTGTTGC   C   T   Asp   Asp   SILENT-   dehydrogenase   Human Gene Similar to SWISSPROT-   2.10E−76                   TTTGGGTACG                   CODING       ID: P46703 ACYL-COA                   CTTGA[C/T]AA                           DEHYDROGENASE (EC 1.3.99.-) -                   CTCTCGTGTC                             MYCOBACTERIUM LEPRAE , 389 aa.                   TCGATTGCTG       13   cg39523614   672   CTGCTCAAG   G   A   Gln   Gln   SILENT-   dehydrogenase   Human Gene Similar to SWISSPROT-   2.10E−76                   CAGTGGGAA                   CODING       ID: P46703 ACYL-COA                   TTGCCCA[G/A]                           DEHYDROGENASE (EC 1.3.99.-) -                   GGAGCTTTA                             MYCOBACTERIUM LEPRAE , 389 aa.                   GACATTGCC       14   cg39523614   732   AGCGCAAGC   A   G   Leu   Leu   SILENT-   dehydrogenase   Human Gene Similar to SWISSPROT-   2.10E−76                   AGTTTGGCCA                   CODING       ID: P46703 ACYL-COA                   GCCACT[A/G]                           DEHYDROGENASE (EC 1.3.99.-) -                   TCCAATTTTG                             MYCOBACTERIUM LEPRAE , 389 aa.                   AGGGAATCC       15   cg39523614   753   CACTATCCAA   A   G   Gln   Gln   SILENT-   dehydrogenase   Human Gene Similar to SWISSPROT-   2.10E−76                   TTTTGAGGGA                   CODING       ID: P46703 ACYL-COA                   ATCCA[A/G]TT                           DEHYDROGENASE (EC 1.3.99.-) -                   CATGCTCGC                             MYCOBACTERIUM LEPRAE , 389 aa.                   AGACATGGC       16   cg39523614   801   TGCGTTTGGA   G   T   Leu   Leu   SILENT-   dehydrogenase   Human Gene Similar to SWISSPROT-   2.10E−76                   GGCGGCGCG                   CODING       ID: P46703 ACYL-COA                   AGCGCT[G/T]                           DEHYDROGENASE (EC 1.3.99.-) -                   ACATACTCTG                             MYCOBACTERIUM LEPRAE , 389 aa.                   CAGCTGATC       17   cg43920750   534   GTAGGAGTG   A   G           SILENT-   dna_rna_bind   Human Gene Similar to SPTREMBL-   1.70E−77    4                   GGCTGGACC                   NONCODING       ID: Q60668 ARE ELEMENT RNA-                   GGACGCC[A/                           BINDING PROTEIN AUF1 -  MUS                     G]GAGACAAA                             MUSCULUS  (MOUSE), 269 aa.                   GGCTCCCAA                   GGCAAGAG       18   cg43950268   2088   GCTGTAAAAC   G   A   Ile   Ile   SILENT-   eph   Human Gene TREMBLNEW-   0   16                   GTCCCGGAG                   CODING       ID: G2865466 HEAT SHOCK PROTEIN                   TTTCCT[G/A]A                           75 -  HOMO SAPIENS  (HUMAN), 649                   TGAGTGCGC                           aa.                   TCTCCTGCAG                   CAGCT       19   cg43958656   2242   GGCTCAAGG   C   G   Ala   Ala   SILENT-   eph   Human Gene SWISSPROT-ID: P08107   0    6                   GCAAGATCA                   CODING       HEAT SHOCK 70 KD PROTEIN 1                   GCGAGGC[C/                           (HSP70.1) (HSP70-1/HSP70-2) -  HOMO                     G]GACAAGAA                             SAPIENS  (HUMAN), 641 aa.                   GAAGGTGCT                   GGACAAGT       20   cg43958656   2257   TCAGCGAGG   G   T   Val   Val   SILENT-   eph   Human Gene SWISSPROT-ID: P08107   0    6                   CCGACAAGA                   CODING       HEAT SHOCK 70 KD PROTEIN 1                   AGAAGGT[G/T]                           (HSP70.1) (HSP70-1/HSP70-2) -  HOMO                     CTGGACAAG                             SAPIENS  (HUMAN), 641 aa.                   TGTCAAGAG       21   cg43953981   2315   ATTTTACATC   A   G   Thr   Thr   SILENT-   eph   Human Gene SWISSPROT-ID: P10809   8.30E−295    9                   TTTGGCATAA                   CODING       MITOCHONDRIAL MATRIX PROTEIN                   GCCCG[A/G]G                           P1 PRECURSOR (P60 LYMPHOCYTE                   TGAGATGAG                           PROTEIN) (60 KD CHAPERONIN)                   GAGCCAGTA                           (HEAT SHOCK PROTEIN 60) (HSP-60)                   CCCTGG                           (PROTEIN CPN60) (GROEL PROTEIN)                                               (HUCHA60) -  HOMO SAPIENS                                                 (HUMAN), 573 aa.       22   cg43926590   652   TGTGTGTCAA   gap   A           SILENT-   glycoprotein   Human Gene SWISSNEW-ID: P26572   4.20E−245   5 (5q35)                   ACCCCAGGG                   NONCODING       ALPHA-1,3-MANNOSYL-                   GAAAAA[gap/                           GLYCOPROTEIN BETA-1,2-N-                   A]GGGACAGG                           ACETYLGLUCOSAMINYLTRANSFERASE                   CAGATCGAAT                           (EC 2.4.1.101) (N-GLYCOSYL-                   TCTGTCT                           OLIGOSACCHARIDE-GLYCOPROTEIN                                               N-                                               ACETYLGLUCOSAMINYLTRANSFERASE                                               I) (GNT-I) (GLCNAC-T I) -  HOMO                                                 SAPIENS (HUMAN), 445                                               aa.lpcls: SWISSPROT-ID: P26572                                               ALPHA-1,3-MANNOSYL-                                               GLYCOPROTEIN BETA-1,2-N-                                               ACETYLGLUCOSAMINYLTRANSFERASE                                               (EC 2.4.1.101) (N-GLYCOSYL-                                               OLIGOSACCHARIDE-GLYCOPROTEIN                                               N-                                               ACETYLGLUCOSAMINYLTRANSFERASE                                               I) (GNT-I) (GLCNAC-T I) -  HOMO                                                   SAPIENS  (HUMAN), 445 aa.       23   cg43948148   301   ACGCAGAGC   A   G           SILENT-   glycoprotein   Human Gene Homologous to   2.00E−128   16                   AGCAAGGCT                   NONCODING       SWISSPROT-ID: Q01650 INTEGRAL                   GAGCATG[A/                           MEMBRANE PROTEIN E16 -  HOMO                     G]CCACTGGA                             SAPIENS  (HUMAN), 241 aa.                   AATAAATAAA                   CATGGTG       24   cg43917727   671   AGGAATACAT   A   G   Arg   Arg   SILENT-   glycoprotein   Human Gene Homologous to   3.20E−103   12                   GGAAGTCCG                   CODING       SWISSNEW-ID: Q15363 COP-COATED                   GGAGAG[A/G]                           VESICLE MEMBRANE PROTEIN P24                   ATACACAGA                           PRECURSOR (P24A) (RNP24) -  HOMO                     GCCATCAAC                             SAPIENS  (HUMAN), 201 aa.                   GACAACA       25   cg42341753   2006   CAGGAGACG   T   A           SILENT-   homeobox   Human Gene SWISSPROT-ID: Q14774   5.20E−263    1                   CAGCGTGGA                   NONCODING       HOMEOBOX PROTEIN HLX1                   GCCTACC[T/A]                           (HOMEOBOX PROTEIN HB24) -  HOMO                     CCCGACATT                             SAPIENS  (HUMAN), 488 aa.                   CACGCTTCG                   CCCCACG       26   cg43923014   328   GAAGATGGA   G   A           SILENT-   homeobox   Human Gene TREMBLNEW-   1.10E−203                   GGCAAATGC                   NONCODING       ID: G2738116 LIM HOMEOBOX                   CCTGGGG[G/                           PROTEIN COFACTOR CLIM-2 -  MUS                     A]GTGGTCAG                             MUSCULUS  (MOUSE), 375 aa.                   GACATGTCTC                   AGAGGCC       27   cg43983653   2108   CTGGGCACG   G   C           SILENT-   interferon   Human Gene SWISSPROT-ID: P10914   5.70E−177   5 (5q31.1)                   GCTCCGGGT                   NONCODING       INTERFERON REGULATORY FACTOR                   GGCCTCG[G/                           1 (IRF-1) -  HOMO SAPIENS  (HUMAN),                   C]TTCGGCGG                           325 aa.                   GGCTCGGGC                   GCACGTCT       28   cg41541224   537   GCTGCCTGG   C   G   Ala   Ala   SILENT-   interferon   Human Gene Similar to SWISSPROT-   4.90E−68                   GCTTCATAGC                   CODING       ID: Q01628 INTERFERON-INDUCIBLE                   ATTCGC[C/G]                           PROTEIN 1-8U -  HOMO SAPIENS                     TACTCCGTGA                           (HUMAN), 133 aa.                   AGTCTAGGG       29   cg42876833   2409   CAGAAGACT   A   C   Arg   Arg   SILENT-   interleukinrecept   Human Gene SWISSPROT-ID: P14778    1.5e−313    2                   GATTATCATT                   CODING       INTERLEUKIN-1 RECEPTOR, TYPE I                   TTAGTC[A/C]                           PRECURSOR (IL-1R-1) (IL-1R-ALPHA)                   GAGAAACAT                           (P80) (CDW121A) -  HOMO SAPIENS                     CAGGCTTCA                           (HUMAN), 569 aa.                   GCTGGCT       30   cg43297395   713   AGCTGCTCA   A   G   Leu   Leu   SILENT-   kinase   Human Gene SWISSPROT-ID: Q15569   0    9                   GCTCCCCTG                   CODING       TESTIS-SPECIFIC PROTEIN KINASE 1                   AACCCCT[A/G]                           (EC 2.7.1.-) -  HOMO SAPIENS                     TCCTGGCCG                           (HUMAN), 626 aa.                   GTCAGGCTC                   CACCTGG       31   cg43957170   2077   TCCCAGCAC   G   A           SILENT-   kinase   Human Gene SPTREMBL-ID: Q61399   1.70E−234                   TTTGGGAGG                   NONCODING       CYCLIN-DEPENDENT PROTEIN                   CCAAGGC[G/                           KINASE -  MUS MUSCULUS  (MOUSE),                   A]GGCAGATC                           783 aa.                   ACCTGAGGT       32   cg43957170   2114   TGAGGTCAG   T   C           SILENT-   kinase   Human Gene SPTREMBL-ID: Q61399   1.70E−234                   GAGTTCGAG                   NONCODING       CYCLIN-DEPENDENT PROTEIN                   ACCATCC[T/C]                           KINASE -  MUS MUSCULUS  (MOUSE),                   GGCCAATAT                           783 aa.                   GGTGAAACC                   CCGTCTC       33   cg43966621   445   TGGCGTAGA   C   T   Gly   Gly   SILENT-   kinase   Human Gene SWISSPROT-ID: Q15119   3.80E−219   17                   GGCGGGAAA                   CODING       [PYRUVATE                   TGGGGAG[C/                           DEHYDROGENASE(LIPOAMIDE)]                   T]CCATACCC                           KINASE ISOZYME 2 PRECURSOR (EC                   AAAGCCAGC                           2.7.1.99) (PYRUVATE                   CAGCGGGG                           DEHYDROGENASE KINASE ISOFORM                                               2) -  HOMO SAPIENS  (HUMAN), 407                                               aa.lpcls: SPTREMBL-ID: Q15119                                               PYRUVATE DEHYDROGENASE                                               KINASE -  HOMO SAPIENS  (HUMAN),                                               407 aa.       34   cg43966621   528   GTGGAGTAC   G   T   Arg   Arg   SILENT-   kinase   Human Gene SWISSPROT-ID: Q15119   3.80E−219   17                   ATGTAGCTGA                   CODING       [PYRUVATE                   AGAGCC[G/T]                           DEHYDROGENASE(LIPOAMIDE)]                   CTCAATCTTC                           KINASE ISOZYME 2 PRECURSOR (EC                   CTCAAGGGA                           2.7.1.99) (PYRUVATE                   ACACCC                           DEHYDROGENASE KINASE ISOFORM                                               2) -  HOMO SAPIENS  (HUMAN), 407                                               aa.lpcls: SPTREMBL-ID: Q15119                                               PYRUVATE DEHYDROGENASE                                               KINASE -  HOMO SAPIENS  (HUMAN),                                               407 aa.       35   cg43966621   532   AGTACATGTA   A   G   Ile   Ile   SILENT-   kinase   Human Gene SWISSPROT-ID: Q15119   3.80E−219   17                   GCTGAAGAG                   CODING       [PYRUVATE                   CCGCTC[A/G]                           DEHYDROGENASE(LIPOAMIDE)]                   ATCTTCCTCA                           KINASE ISOZYME 2 PRECURSOR (EC                   AGGGAACAC                           2.7.1.99) (PYRUVATE                   CCCCAC                           DEHYDROGENASE KINASE ISOFORM                                               2) -  HOMO SAPIENS  (HUMAN), 407                                               aa.lpcls: SPTREMBL-ID: Q15119                                               PYRUVATE DEHYDROGENASE                                               KINASE -  HOMO SAPIENS  (HUMAN),                                               407 aa.       36   cg43966621   547   AGAGCCGCT   A   G   Val   Val   SILENT-   kinase   Human Gene SWISSPROT-ID: Q15119   3.80E−219   17                   CAATCTTCCT                   CODING       [PYRUVATE                   CAAGGG[A/G]                           DEHYDROGENASE(LIPOAMIDE)]                   ACACCCCCA                           KINASE ISOZYME 2 PRECURSOR (EC                   CCTCGGTCA                           2.7.1.99) (PYRUVATE                   CTCATCT                           DEHYDROGENASE KINASE ISOFORM                                               2) -  HOMO SAPIENS  (HUMAN), 407                                               aa.lpcls: SPTREMBL-ID: Q15119                                               PYRUVATE DEHYDROGENASE                                               KINASE -  HOMO SAPIENS  (HUMAN),                                               407 aa.       37   cg43966621   556   CAATCTTCCT   A   G   Gly   Gly   SILENT-   kinase   Human Gene SWISSPROT-ID: Q15119   3.80E−219   17                   CAAGGGAAC                   CODING       [PYRUVATE                   ACCCCC[A/G]                           DEHYDROGENASE(LIPOAMIDE)]                   CCTCGGTCA                           KINASE ISOZYME 2 PRECURSOR (EC                   CTCATCTTGA                           2.7.1.99) (PYRUVATE                   TGGACA                           DEHYDROGENASE KINASE ISOFORM                                               2) -  HOMO SAPIENS  (HUMAN), 407                                               aa.lpcls: SPTREMBL-ID: Q15119                                               PYRUVATE DEHYDROGENASE                                               KINASE -  HOMO SAPIENS  (HUMAN),                                               407 aa.       38   cg43336176   5562   GCTGCTGCT   gap   C           SILENT-   kinase   Human Gene SPTREMBL-ID: Q16205   1.10E−164   19                   GCTGCTGCT                   NONCODING       MYOTONIN PROTEIN KINASE -  HOMO                     GCTGCTG[ga                             SAPIENS  (HUMAN), 625 aa.                   p/C]GGGGGG                   ATCACAGAC                   CATTTCTTTC       39   cg43336176   5562   GCTGCTGCT   gap   C           SILENT-   kinase   Human Gene SPTREMBL-ID: Q16205   1.10E−164   19                   GCTGCTGCT                   NONCODING       MYOTONIN PROTEIN KINASE -  HOMO                     GCTGCTG[ga                             SAPIENS  (HUMAN), 625 aa.                   p/C]GGGGGG                   ATCACAGAC                   CATTTCTTTC       40   cg43265203   572   ACACTTACGT   A   C           SILENT-   kinase   Human Gene Homologous to   5.50E−124                   GTAAAAGTGT                   NONCODING       SWISSNEW-ID: P54619 5′-AMP-                   CATTA[A/C]AA                           ACTIVATED PROTEIN KINASE,                   TTTTAAAGTA                           GAMMA-1 SUBUNIT (AMPK GAMMA-1                   ATTATTTATAT                           CHAIN) -  HOMO SAPIENS  (HUMAN),                   TC                           331 aa.lpcls: SWISSPROT-ID: P54619 5′-                                               AMP-ACTIVATED PROTEIN KINASE,                                               GAMMA-1 SUBUNIT (AMPK GAMMA                                               CHAIN) -  HOMO SAPIENS  (HUMAN),                                               331 aa.       41   cg39425214   707   CGGGAGAGT   C   G           SILENT-   MHC   Human Gene Similar to SWISSPROT-   4.70E−55                   CCCAGGCGC                   NONCODING       ID: P16215 CHLA CLASS I                   CTTTACC[C/G]                           HISTOCOMPATIBILITY ANTIGEN,                   AGGTTCATTT                           CH28 ALPHA CHAIN PRECURSOR -                   TCAGTTTAGG                           PAN TROGLODYTES (CHIMPANZEE),                   CCAAA                           346 aa.       42   cg42928872   2096   TGCCCAGCA   C   T   Tyr   Tyr   SILENT-   misc_channel   Human Gene TREMBLNEW-   0   11                   ACACCCTGC                   CODING       ID: G2465531 KIDNEY AND CARDIAC                   CCACCTA[C/T]                           VOLTAGE DEPENDENT K+ CHANNEL                   GAGCAGCTG                             HOMO SAPIENS  (HUMAN), 676 aa.                   ACCGTGCCC                   AGGAGGG       43   cg43969460   495   TGTCTGTGAA   C   T           SILENT-   phosphatase   Human Gene SWISSPROT-ID: P36876   1.90E−202                   GGGAAGTAG                   NONCODING       PROTEIN PHOSPHATASE PP2A, 55                   CAGGTG[C/T]                           KD REGULATORY SUBUNIT, ALPHA                   GTCACTGTTC                           ISOFORM (PROTEIN PHOSPHATASE                   TTAATGGAGC                           PP2A B SUBUNIT ALPHA ISOFORM)                   GGACA                           (ALPHA-PR55) -  RATTUS                                                   NORVEGICUS  (RAT), 447 aa.       44   cg43933809   2546   CCTTACAATC   A   G           SILENT-   phosphatase   Human Gene SWISSPROT-ID: P37140   1.60E−181   2 (2p23)                   GTATACAACA                   NONCODING       SERINE/THREONINE PROTEIN                   TTCAC[A/G]T                           PHOSPHATASE PP1-BETA                   GGCAATATTA                           CATALYTIC SUBUNIT (EC 3.1.3.16)                   GACAGTTAA                           (PP-1B) -  HOMO SAPIENS  (HUMAN),                   GCACC                             RATTUS NORVEGICUS  (RAT),  MUS                                                   MUSCULUS  (MOUSE),, 327 aa.       45   cg43962215   1456   TGGCACCTG   G   A   Cys   Cys   SILENT-   phosphatase   Human Gene SWISSPROT-ID: P36873   1.30E−177   12                   CATTGTCAAA                   CODING       SERINE/THREONINE PROTEIN       (12q24.1)                   CTCTCC[G/A]                           PHOSPHATASE PP1-GAMMA                   CAATAATTGG                           CATALYTIC SUBUNIT (EC 3.1.3.16)                   GCGCAGAAA                           (PP-1G) -  HOMO SAPIENS  (HUMAN),                   ACAGAG                           323 aa.       46   cg43059041   984   GCACCATCA   A   G   Ser   Ser   SILENT-   proteaseinhib   Human Gene Similar to SWISSPROT-   4.40E−83   14                   GTTACCTTCA                   CODING       ID: P17475 ALPHA-1-       (14q32.1)                   TGACTC[A/G]                           ANTIPROTEINASE PRECURSOR                   GAGCTCCCC                           (ALPHA-1-ANTITRYPSIN) (ALPHA-1-                   TGCCAGCTG                           PROTEINASE INHIBITOR) -  RATTUS                     GTGCAGA                             NORVEGICUS  (RAT), 411 aa.       47   cg44001078   375   TCGGCTTCG   A   G   Cys   Cys   SILENT-   struct   Human Gene TREMBLNEW-   0                   GGTGGCCTC                   CODING       ID: G2920823 CARDIAC MYOSIN                   TGACAGC[A/                           BINDING PROTEIN-C -  HOMO                     G]CAGTTGAG                             SAPIENS  (HUMAN), 1274 aa.                   GGCTGCCGA                   GTACCCAG       48   cg44033566   4388   GAGTGGAGG   G   A   Arg   Arg   SILENT-   struct   Human Gene SWISSNEW-ID: P11277   0   14                   ACCAAGTGA                   CODING       SPECTRIN BETA CHAIN,       (14q22)                   ATGTGCG[G/                           ERYTHROCYTE -  HOMO SAPIENS                     A]AAAGAGGA                           (HUMAN), 2137 aa.lpcls: SWISSPROT-                   GCTGGGGGA                           ID: P11277 SPECTRIN BETA CHAIN,                   GCTGTTTG                           ERYTHROCYTE -  HOMO SAPIENS                                                 (HUMAN), 2137 aa.       49   cg43923449   1431   TAACGCAAA   G   A           SILENT-   struct   Human Gene SWISSPROT-ID: P47755   2.10E−154    7                   GACACTAAAA                   NONCODING       F-ACTIN CAPPING PROTEIN ALPHA-2                   TGATCC[G/A]                           SUBUNIT (CAPZ) -  HOMO SAPIENS                     GTCATGCAAT                           (HUMAN), 286 aa.                   GTTCATCTTA       50   cg43961212   867   AGTACACCTA   C   G           SILENT-   struct   Human Gene Homologous to   2.40E−114    7                   TTAAGTACCA                   NONCODING       TREMBLNEW-ID: G1703715                   CGGGT[C/G]A                           PANTOPHYSIN = SYNAPTOPHYSIN                   TTTAGAAAAA                           HOMOLOG - MUS SP, 261 aa.                   CAGAAAAAAA       51   cg43051155   1043   TGCCATTGCC   A   C   Arg   Arg   SILENT-   struct   Human Gene Homologous to   5.30E−103   17                   CTCCTTGTCA                   CODING       SWISSPROT-ID: P12829 MYOSIN                   AAGAC[A/C]C                           LIGHT CHAIN 1, EMBRYONIC                   GCAGGCCCT                           MUSCLE/ATRIAL ISOFORM -  HOMO                     CCACGAAGT                             SAPIENS  (HUMAN), 196 aa.       52   cg42523912   737   CAGCCTCGTT   C   gap           SILENT-   struct   Human Gene Similar to SWISSPROT-   1.30E−60                   AGGACAAGG                   NONCODING       ID: P07313 MYOSIN LIGHT CHAIN                   CTGTGC[C/ga                           KINASE, SKELETAL MUSCLE (EC                   p]AGGCTGGG                           2.7.1.117) (MLCK) -  ORYCTOLAGUS                     AGGCTCGGG                             CUNICULUS  (RABBIT), 607 aa.                   GCTCCCCA       53   cg39550395   231   AGATATCTTC   A   T   Ser   Ser   SILENT-   synthase   Human Gene Similar to SWISSPROT-   8.90E−85                   TCTGTCATTG                   CODING       ID: P54839                   ACAAA[A/T]G                           HYDROXYMETHYLGLUTARYL-COA                   ACATGTTGGT                           SYNTHASE (EC 4.1.3.5) (HMG-COA                   TTGGCCCAG                           SYNTHASE) (3-HYDROXY-3-                   ACCAA                           METHYLGLUTARYL COENZYME A                                               SYNTHASE) -  SACCHAROMYCES                                                   CEREVISIAE  (BAKER&#39;S YEAST), 491                                               aa.       54   cg43968419   35   CCTGGGAAC   T   A           SILENT-   synthase   Human Gene Similar to SWISSNEW-   9.90E−70                   GCCTGGCGC                   NONCODING       ID: P53556 8-AMINO-7-                   GCCGCAC[T/                           OXONONANOATE SYNTHASE (EC                   A]CTTCTGGG                           2.3.1.47) (7-KETO-8-AMINO-                   TGCCCCGCG                           PELARGONIC ACID SYNTHETASE) (7-                   GCCGCCGC                           KAP SYNTHETASE) (L-ALANINE-                                               PIMELYL COA LIGASE) -  BACILLUS                                                   SUBTILIS , 389 aa.lpcls: SWISSPROT-                                               ID: P53556 8-AMINO-7-                                               OXONONANOATE SYNTHASE (EC                                               2.3.1.47) (7-KETO-8-AMINO-                                               PELARGONIC ACID SYNTHETASE) (7-                                               KAP SYNTHETASE) (L-ALANINE-                                               PIMELYL COA LIGASE) -  BACILLUS                                                   SUBTILIS , 389 aa.       55   cg43931248   1500   GGGAAATTG   C   T   Ser   Ser   SILENT-   tgf   Human Gene SWISSPROT-ID: P01137   9.70E−214   19                   AGGGCTTTC                   CODING       TRANSFORMING GROWTH FACTOR                   GCCTTAG[C/T]                           BETA 1 PRECURSOR (TGF-BETA 1) -                   GCCCACTGC                             HOMO SAPIENS  (HUMAN), 390 aa.                   TCCTGTGACA       56   cg34698086   1546   GCCATTGCTT   C   T   Leu   Leu   SILENT-   tm7   Human Gene SWISSPROT-ID: Q16602   5.50E−243    2                   GGCATTGAAT                   CODING       CALCITONIN GENE-RELATED                   TTGTG[C/T]TG                           PEPTIDE TYPE 1 RECEPTOR                   ATTCCATGGC                           PRECURSOR (CGRP TYPE 1                   GACCTGAAG                           RECEPTOR) -  HOMO SAPIENS                     GAAA                           (HUMAN), 461 aa.       57   cg43918762   2400   AGAGCCGCC   C   A   Thr   Thr   SILENT-   transcriptfactor   Human Gene SWISSPROT-ID: P05549   2.70E−241   6 (6p12)                   GCTGCACTTC                   CODING       TRANSCRIPTION FACTOR AP-2 -                   CGCCAC[C/A]                             HOMO SAPIENS  (HUMAN), 437 aa.                   GTGACCTTGT                   ACTTCGAGGT                   GGAGC       58   cg43943659   1948   TGCTGCTGCT   G   A           SILENT-   transcriptfactor   Human Gene Homologous to   6.40E−146    9                   GTTGCAGGG                   NONCODING       TREMBLNEW-ID: G2911282                   CTAGCT[G/A]                           TRANSCRIPTION FACTOR LZIP -                   CATGGCCCA                             HOMO SAPIENS  (HUMAN), 395 aa.                   TATGCTCAGT       59   cg30788121   330   GTTTAAACAA   G   A   Arg   Arg   SILENT-   transferase   Human Gene Homologous to   1.60E−101                   TACAGCAATT                   CODING       SWISSPROT-ID: P14180 CHITIN                   TACAG[G/A]T                           SYNTHASE 2 (EC 2.4.1.16) (CHITIN-                   TATGGAAGGT                           UDP ACETYL-GLUCOSAMINYL                   TTTTGATATG                           TRANSFERASE 2) -                   GATT                             SACCHAROMYCES CEREVISIAE                                                 (BAKER&#39;S YEAST), 963 aa.       60   cg44026704   1332   GCTGCCAAG   C   T   Leu   Leu   SILENT-   transport   Human Gene SPTREMBL-ID: Q99808   1.50E−240    6                   CCTGGTGCT                   CODING       EQUILIBRATIVE NUCLEOSIDE                   GGCCCGG[C/                           TRANSPORTER 1 -  HOMO SAPIENS                     T]TGGTGTTT                           (HUMAN), 456 aa.                   GTGCCACTG                   CTGCTGCT       61   cg42379518   635   AGAAGGCGG   C   T   Asp   Asp   SILENT-   transport   Human Gene Homologous to   7.70E−134                   TGGAGGAGG                   CODING       SWISSPROT-ID: P31662 SODIUM-                   AGCTGGA[C/T]                           AND CHLORIDE-DEPENDENT                   GCAGAGGAC                           TRANSPORTER NTT4 -  RATTUS                     CGGCCGGCC                             NORVEGICUS  (RAT), 727 aa.                   TGGAACA       62   cg43981681   839   CGATGAGGT   A   G   Pro   Pro   SILENT-   tubulin   Human Gene SWISSPROT-ID: P23258   4.30E−243   17                   CATTGTTCAT                   CODING       TUBULIN GAMMA CHAIN -  HOMO                     GTAGCC[A/G]                             SAPIENS  (HUMAN), 451 aa.                   GGGTAGCGC                   AGGGTGGTG                   GTGCTGG       63   cg29352764   299   AAGGCCTAA   G   A   Val   Val   SILENT-   ubiquitin   Human Gene Similar to SWISSPROT-   2.20E−53                   GTAATTTGGC                   CODING       ID: P54860 UBIQUITIN FUSION                   TGAGGT[G/A]                           DEGRADATION PROTEIN 2 (UB                   CATAATATCC                           FUSION PROTEIN 2) -                   AAAATGAGCT                             SACCHAROMYCES CEREVISIAE                     GGATA                           (BAKER&#39;S YEAST), 961 aa.       64   cg42890555   2052   GGATGTTGAA   T   C   Ala   Ala   SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O60662   0    2                   GGAAATACG                   CODING       SARCOSIN -  HOMO SAPIENS                     TTATGC[T/C]T                           (HUMAN), 596 aa.                   CAGGAGCTA                   GTTGCCTAG       65   cg43948142   3021   GGAATCTGA   T   C           SILENT-   UNCLASSIFIED   Human Gene SWISSPROT-   0   11                   GTATCATGTG                   NONCODING       ACC: Q60865 GPI-ANCHORED                   CAAGGC[T/C]                           PROTEIN P137 -  Mus musculus                     CAAGATGAC                           (Mouse), 656 aa.                   GCTTAGGAC       66   cg43950416   4775   GAACCAAGTT   T   C           SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O75166   0   10                   TGCATTTTTG                   NONCODING       KIAA0679 PROTEIN -  HOMO SAPIENS                     AGGGC[T/C]T                           (HUMAN), 767 aa (fragment).                   GAGATGAAG                   GGAAGACTC       67   cg43964911   1540   GAAGAGCCA   C   gap           SILENT-   UNCLASSIFIED   Human Gene SWISSPROT-   0   17                   GGACTGGCC                   NONCODING       ACC: Q12767 HYPOTHETICAL                   AAGGGCC[C/                           PROTEIN KIAA0195 -  Homo sapiens                     gap]AGGCCG                           (Human), 1356 aa.                   TCAGCTCCTC                   CACAGTGAG       68   cg43991434   754   ATCAGCAGA   G   gap           SILENT-   UNCLASSIFIED   Human Gene SWISSNEW-   1.70E−304   22                   GCGCCCTCA                   NONCODING       ACC: P46060 RAN-GTPASE                   GGTGGAG[G/                           ACTIVATING PROTEIN 1 -  Homo                     gap]TGAGTTT                             sapiens  (Human), 587 aa.                   AATGGCGGA                   GCAGCTCAC       69   cg44002507   486   AAGAAGGCG   G   A   Leu   Leu   SILENT-   UNCLASSIFIED   Human Gene TREMBLNEW-   8.10E−298                   ATCCGGGGG                   CODING       ACC: AAD21812 G9A -  HOMO                     AACCGCA[G/                             SAPIENS  (HUMAN), 1001 aa.                   A]GTCCTGGT                   GGGCCATGA                   ACACGCGC       70   cg43998884   1728   GTGACCAGA   T   C           SILENT-   UNCLASSIFIED   Human Gene SWISSPROT-   1.10E−279   17                   GCATGTGCC                   NONCODING       ACC: P51688 N-                   CAGCCCC[T/                           SULPHOGLUCOSAMINE                   C]CCACCACC                           SULPHOHYDROLASE PRECURSOR                   AGGGGCACT                           (EC 3.10.1.1) (SULFOGLUCOSAMINE                   GCCGTCAT                           SULFAMIDASE) (SULPHAMIDASE) -                                                 Homo sapiens  (Human), 502 aa.       71   cg43998884   1739   ATGTGCCCA   G   A           SILENT-   UNCLASSIFIED   Human Gene SWISSPROT-   1.10E−279   17                   GCCCCTCCA                   NONCODING       ACC: P51688 N-                   CCACCAG[G/                           SULPHOGLUCOSAMINE                   A]GGCACTGC                           SULPHOHYDROLASE PRECURSOR                   CGTCATGGC                           (EC 3.10.1.1) (SULFOGLUCOSAMINE                   AGGGGACA                           SULFAMIDASE) (SULPHAMIDASE) -                                                 Homo sapiens  (Human), 502 aa.       72   cg43929467   2606   CCTGGGCGA   C   T           SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: Q12874   1.30E−274    1                   TATAGTGAGG                   NONCODING       SPLICESOME-ASSOCIATED PROTEIN                   CCCCAT[C/T]                           SAP 61 -  HOMO SAPIENS  (HUMAN),                   TCAAAAAAAA                           501 aa.                   AAAAAAGCG                   GGTGGG       73   cg43944629   828   TTAACAGGTA   A   G           SILENT-   UNCLASSIFIED   Human Gene TREMBLNEW-   5.80E−192    8                   GTACTTTTTT                   NONCODING       ACC: AAD43012 HSPC035 PROTEIN -                   TCTAA[A/G]G                             HOMO SAPIENS  (HUMAN), 339 aa.                   AGAAAGTGAT                   GAAAAATCCA       74   cg43963889   1436   ATGAGGCCG   C   A   Pro   Pro   SILENT-   UNCLASSIFIED   Human Gene SWISSPROT-   3.90E−170   15                   CCCGCCGGA                   CODING       ACC: P13804 ELECTRON TRANSFER       (15q23)                   GCTGCCC[C/                           FLAVOPROTEIN ALPHA-SUBUNIT                   A]GGAGCCGC                           PRECURSOR (ALPHA-ETF) -  Homo                     CGCTCGGAA                             sapiens  (Human), 333 aa.                   CATGGTCT       75   cg43963889   1439   AGGCCGCCC   A   C   Ala   Ala   SILENT-   UNCLASSIFIED   Human Gene SWISSPROT-   3.90E−170   15                   GCCGGAGCT                   CODING       ACC: P13804 ELECTRON TRANSFER       (15q23)                   GCCCCGG[A/                           FLAVOPROTEIN ALPHA-SUBUNIT                   C]GCCGCCG                           PRECURSOR (ALPHA-ETF) -  Homo                     CTCGGAACA                             sapiens  (Human), 333 aa.                   TGGTCTCCG       76   cg43994856   836   AGGATGTCC   G   A   Leu   Leu   SILENT-   UNCLASSIFIED   Human Gene SWISSNEW-   2.40E−163   19                   GAAGCCATG                   CODING       ACC: Q13011 DELTA3,5-DELTA2,4-                   TCCATCA[G/A]                           DIENOYL-COA ISOMERASE                   GTCAATACC                           PRECURSOR (EC 5.3.3.-) -  Homo                     TGCAGTGAA                             sapiens  (Human), 328 aa.                   CATTTTT       77   cg43254730   1770   CTGGGTAGC   C   T   Leu   Leu   SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O43800   1.80E−156   22                   CACCTGAGA                   CODING       NIPSNAP1 PROTEIN -  HOMO                     ATCGCCA[C/T]                             SAPIENS  (HUMAN), 284 aa.                   AGGTGCACT                   GCCTGGTCC                   TGCTCCC       78   cg43254730   1776   AGCCACCTG   C   T   Val   Val   SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O43800   1.80E−156   22                   AGAATCGCC                   CODING       NIPSNAP1 PROTEIN -  HOMO                     ACAGGTG[C/T]                             SAPIENS  (HUMAN), 284 aa.                   ACTGCCTGG                   TCCTGCTCCC                   CATACC       79   cg43254730   1797   GGTGCACTG   A   G   Tyr   Tyr   SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O43800   1.80E−156   22                   CCTGGTCCT                   CODING       NIPSNAP1 PROTEIN -  HOMO                     GCTCCCC[A/                             SAPIENS  (HUMAN), 284 aa.                   G]TACCACGT                   GTTCCAGTTG                   CCCACGA       80   cg43254730   1851   AGCATGGGT   A   C   Leu   Leu   SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O43800   1.80E−156   22                   AGTCCTCATC                   CODING       NIPSNAP1 PROTEIN -  HOMO                     CAGGTG[A/C]                             SAPIENS  (HUMAN), 284 aa.                   AGCTTGGGC                   AGCACAGCC                   TCCGTGA       81   cg43254730   1902   GGCTGTTGTA   A   G   Pro   Pro   SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O43800   1.80E−156   22                   GGCATCCAG                   CODING       NIPSNAP1 PROTEIN -  HOMO                     GTATTC[A/G]                             SAPIENS  (HUMAN), 284 aa.                   GGCTTTACAT                   TGTGAAACTG       82   cg43254730   1911   AGGCATCCA   A   G   Asn   Asn   SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O43800   1.80E−156   22                   GGTATTCAG                   CODING       NIPSNAP1 PROTEIN -  HOMO                     GCTTTAC[A/G]                             SAPIENS  (HUMAN), 284 aa.                   TTGTGAAAC                   TGGATCTTAT       83   cg43950590   1424   TCATGGTTCC   A   G   Ser   Ser   SILENT-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O75323   1.90E−154    7                   TGGTCGGAG                   CODING       GBAS -  HOMO    SAPIENS  (HUMAN),                   TTGGTA[A/G]                           286 aa.                   GACCTGAGTT                   CATATATATT       84   cg43950545   1157   TGTAATCCCA   A   G           SILENT-   UNCLASSIFIED   Human Gene Homologous to   3.50E−129   13                   GCACTTTGG                   NONCODING       TREMBLNEW-ACC: AAD30062                   GAGGCC[A/G]                           SUPPRESSOR OF G2 ALLELE OF                   AGGCAGGTG                           SKP1 HOMOLOG -  HOMO    SAPIENS                     GATCACTTGA                           (HUMAN), 333 aa.       85   cg43973271   1187   AGCCGCGCC   C   T           SILENT-   UNCLASSIFIED   Human Gene Homologous to   2.20E−128                   AGGTACGTC                   NONCODING       TREMBLNEW-ACC: AAD47379 DEM1                   CAGTGTG[C/T]                           PROTEIN -  HOMO SAPIENS  (HUMAN),                   CCGAGCCGC                           398 aa.                   GGGCGTCCC                   CTGCCGC       86   cg43114760   486   ACCACCTCTC   C   T   Leu   Leu   SILENT-   UNCLASSIFIED   Human Gene Homologous to   4.30E−123                   TCAACCAACC                   CODING       TREMBLNEW-ACC: BAA83065                   TGCAT[C/T]TA                           KIAA1113 PROTEIN -  HOMO SAPIENS                     GAAAGTGAAT                           (HUMAN), 1131 aa (fragment).                   TGGATGCATT       87   cg43987294   124   CGCTCAGCA   C   T           SILENT-   UNCLASSIFIED   Human Gene Homologous to   3.70E−119    3                   GTCCTGCGTT                   NONCODING       SPTREMBL-ACC: O75543                   GGGGTC[C/T]                           HYPOTHETICAL 41.9 KD PROTEIN -                   GCGCCCTAG                             HOMO SAPIENS  (HUMAN), 381 aa                   GATGCACTG                           (fragment).                   AGATGGT       88   cg44008583   870   AGACTCGCC   A   G           SILENT-   UNCLASSIFIED   Human Gene Homologous to   9.70E−119                   AAGTAAGGC                   NONCODING       SWISSPROT-ACC: Q15041                   TTCGTGC[A/G]                           HYPOTHETICAL PROTEIN KIAA0069                   TAGTGTCTT                           (HA1508) -  Homo sapiens  (Human),                   CATGTCGCG                           226 aa (fragment).       89   cg43122111   175   AGAAGGTCC   A   C   Arg   Arg   SILENT-   UNCLASSIFIED   Human Gene Homologous to   5.00E−115                   GGAGATGGG                   CODING       SPTREMBL-ACC: O43770 BCL7C                   AGAAGCG[A/                           PROTEIN -  HOMO SAPIENS  (HUMAN),                   C]TGGGTGAC                           217 aa.                   TGTGGGCGA                   CACTTCCC       90   cg43122111   223   CCCTTCGTAT   A   T   Pro   Pro   SILENT-   UNCLASSIFIED   Human Gene Homologous to   5.00E−115                   CTTCAAGTGG                   CODING       SPTREMBL-ACC: O43770 BCL7C                   GTGCC[A/T]G                           PROTEIN -  HOMO SAPIENS  (HUMAN),                   TGGTGGATC                           217 aa.                   CCCAGGAGG       91   cg43969317   967   AGTTGAAGC   C   T           SILENT-   UNCLASSIFIED   Human Gene Homologous to   1.80E−110   10                   CAAAGCCCTT                   NONCODING       SPTREMBL-ACC: O14925 INNER                   TGGTGA[C/T]                           MITOCHONDRIAL MEMBRANE                   TCACTGAGTA                           TRANSLOCASE TIM23 -  HOMO                     CCATGGTTCT                             SAPIENS  (HUMAN), 209 aa.       92   cg43325007   1106   ATGTGGCCT   C   T   Lys   Lys   SILENT-   UNCLASSIFIED   Human Gene Homologous to   4.80E−110   20                   GCAGTATGG                   CODING       TREMBLNEW-ACC: AAD43195                   CCCACAG[C/T]                           PEROXISOMAL MEMBRANE PROTEIN                   TTCTCCTGG                           PMP 24 -  HOMO SAPIENS  (HUMAN),                   AGGCTGCCA                           212 aa.                   TTCCGGA       93   cg44005345   2890   TGCCGTCGG   G   gap           SILENT-   UNCLASSIFIED   Human Gene Homologous to   5.80E−105                   TGCCGGCCG                   NONCODING       SPTREMBL-ACC: O14493 CPE-                   CTCGCGG[G/                           RECEPTOR -  HOMO SAPIENS                     gap]CCTGCTC                           (HUMAN), 209 aa.                   GAGACGCCA                   TTGTGCCTG       94   cg39512856   738   GACCGGTAT   G   A   Asp   Asp   SILENT-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   1.20E−98                   GAGGCGGAA                   CODING       ACC: P03740 HYPOTHETICAL                   TATATGC[G/A]                           PROTEIN ORF194 -  Bacteriophage                     TCACCTTCA                             lambda , 194 aa.                   CCAATAAATT       95   cg43917702   184   GTTGCCCAG   C   T   Leu   Leu   SILENT-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   3.70E−87   22                   CTCTTTCCAG                   CODING       ACC: O35347 DIGEORGE SYNDROME                   CAGCGC[C/T]                           CHROMOSOME REGION 6 (DGCR6                   TGTCCTACAC                           PROTEIN) -  MUS MUSCULUS                     CACGCTCAG                           (MOUSE), 194 aa (fragment).                   CGACCT       96   cg43928759   220   AATTCTCCCC   G   A           SILENT-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   6.00E−71                   CAAGAAAAAC                   NONCODING       ACC: O75704 HYPOTHETICAL 17.4 KD                   TGTTC[G/A]G                           PROTEIN -  HOMO SAPIENS  (HUMAN),                   TTTGGTGGAA                           153 aa.                   CTGTGACAG       97   cg43928759   262   ACAGAAGTCT   A   C           SILENT-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   6.00E−71                   TGCTGAAGTA                   NONCODING       ACC: O75704 HYPOTHETICAL 17.4 KD                   CAAAA[A/C]G                           PROTEIN -  HOMO SAPIENS  (HUMAN),                   GGTGAAACA                           153 aa.                   AATGACTTTG       98   cg43917991   335   TAGAGGTGG   G   T           SILENT-   UNCLASSIFIED   Human Gene Similar to TREMBLNEW-   6.90E−70   11                   ATCAGGCCC                   NONCODING       ACC: AAD23762 EVECTIN-1 -  RATTUS                     CAGAGGA[G/                             NORVEGICUS  (RAT), 223 aa.                   T]AACACTGC                   CATCTTATTC       99   cg42550841   175   AGGAAAGCC   C   T   Ala   Ala   SILENT-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   7.40E−67   4 (4q24)                   TGCAAGAAA                   CODING       ACC: Q02224 CENTROMERIC                   CCAAAGC[C/T]                           PROTEIN E (CENP-E PROTEIN) -                   AGAGATCTG                             Homo sapiens  (Human), 2663 aa.                   GAAATACAAC                   AGGAAC       100   cg43012934   375   GCTCTGGGG   C   T   Pro   Pro   SILENT-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   1.50E−65    1                   ATGATGACTC                   CODING       ACC: P33671 SYNDECAN-3                   CTTTCC[C/T]G                           PRECURSOR (N-SYNDECAN)                   ATGATGAACT                           (NEUROGLYCAN) -  Rattus norvegicus                     GGATGACCT                           (Rat), 442 aa.       101   cg39425093   161   TATTGCAAGT   A   G   Val   Val   SILENT-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   1.50E−64                   GGATTGATCA                   CODING       ACC: P38041 BOB1 PROTEIN (BEM1-                   AATCC[A/G]A                           BINDING PROTEIN) -  Saccharomyces                     CCAAGCTAAA                             cerevisiae  (Baker&#39;s yeast), 980 aa.                   GTAATCAGTA       102   cg38927410   495   TTTTAGAAGT   gap   T           SILENT-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   3.70E−64                   ATGCATTTTT                   NONCODING       ACC: P47031 HYPOTHETICAL 82.5 KD                   TTTTT[gap/T]C                           PROTEIN IN EXO70-ARP4                   TTTCGACTAC                           INTERGENIC REGION -                   TTACCTTCCC                             Saccharomyces cerevisiae  (Baker&#39;s                   TTGC                           yeast), 731 aa.       103   cg44128084   302   TTGGCGTCAA   C   T   Gly   Gly   SILENT-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   1.70E−59                   CCTTGGCCAT                   CODING       ACC: O33196 HYPOTHETICAL 32.9 KD                   GTCGG[C/T]T                           PROTEIN -  MYCOBACTERIUM                     TTCTGGCTGA                             TUBERCULOSIS , 307 aa.                   GCTGGAGCG       104   cg44128084   533   ACGAGTTGC   C   T   Ser   Ser   SILENT-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   1.70E−59                   CGGTGCAAC                   CODING       ACC: O33196 HYPOTHETICAL 32.9 KD                   GCTGGAG[C/                           PROTEIN -  MYCOBACTERIUM                     T]TGCGACGG                             TUBERCULOSIS , 307 aa.                   GATCCTGGT                   CTCGACCC       105   cg44128084   542   CGGTGCAAC   G   C   Gly   Gly   SILENT-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   1.70E−59                   GCTGGAGCT                   CODING       ACC: O33196 HYPOTHETICAL 32.9 KD                   GCGACGG[G/                           PROTEIN -  MYCOBACTERIUM                     C]ATCCTGGT                             TUBERCULOSIS , 307 aa.                   CTCGACCCC                   GACCGGAT       106   cg44128084   620   GCCCGGTCA   C   T   Asp   Asp   SILENT-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   1.70E−59                   TGTGGCCCG                   CODING       ACC: O33196 HYPOTHETICAL 32.9 KD                   ATCTCGA[C/T]                           PROTEIN -  MYCOBACTERIUM                     GCCATGCTC                             TUBERCULOSIS , 307 aa.                   ATGGTGCCG                   TTGAGCG       107   cg43997824   1008   AGCTTTAAGC   A   G           SILENT-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   4.00E−58   16                   CGGAAGGCA                   NONCODING       ACC: Q62625 MICROTUBULE-                   GAAGGG[A/G]                           ASSOCIATED PROTEINS 1A/1B LIGHT                   GTGTGTCTGA                           CHAIN 3 (MAP1A/MAP1B LC3) -  Rattus                     ATGTTAATGT                             norvegicus  (Rat), 141 aa.                   TTTCA       108   cg39535347   450   GCACGTGCC   A   G   Phe   Phe   SILENT-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   2.60E−57                   CCCCTGGGC                   CODING       ACC: P97608 5-OXOPROLINASE (EC                   ACTGGGC[A/                           3.5.2.9) (5-OXO-L-PROLINASE)                   G]AAGACGTC                           (PYROGLUTAMASE) (5-OPASE) -                   TGTGAAGGTA                             Rattus norvegicus  (Rat), 1288 aa.       109   cg43982355   723   GCACGCGTA   A   G           SILENT-   UNCLASSIFIED   Human Gene Similar to TREMBLNEW-   7.50E−57                   GTGTCACTTA                   NONCODING       ACC: CAB43290 HYPOTHETICAL 12.3                   AAGCAA[A/G]                           KD PROTEIN -  HOMO SAPIENS                     GCTTCATGAA                           (HUMAN), 103 aa (fragment).                   AATATAATAC       110   cg43982355   795   CATCATTGGC   A   G           SILENT-   UNCLASSIFIED   Human Gene Similar to TREMBLNEW-   7.50E−57                   TTCCAAAAAA                   NONCODING       ACC: CAB43290 HYPOTHETICAL 12.3                   CTGAC[A/G]C                           KD PROTEIN -  HOMO SAPIENS                     TAAAGGAATT                           (HUMAN), 103 aa (fragment).                   TCCAATCAAA       111   cg43977588   611   GCAGGTAGC   A   G           SILENT-   UNCLASSIFIED   Human Gene Similar to SWISSNEW-   9.50E−53   15                   AGTAGTGTGT                   NONCODING       ACC: P56211 CAMP-REGULATED                   GCTGCT[A/G]                           PHOSPHOPROTEIN 19 (ARPP-19) -                   TTGTGGAATA                             Homo sapiens  (Human), 111 aa.                   TACGTGTGTA       112   cg43998552   277   AGAGTTCGA   G   A   Thr   Thr   SILENT-   UNCLASSIFIED   Human Gene Similar to SWISSNEW-   5.60E−52                   GGTTGAGGT                   CODING       ACC: P56181 NADH-UBIQUINONE                   CTAAGAA[G/A]                           OXIDOREDUCTASE 9 KD SUBUNIT                   GTGTACGTG                           PRECURSOR (EC 1.6.5.3) (EC                   CTGTAGTCAT                           1.6.99.3) (COMPLEX I-9KD) (CI-9KD) -                   GATGCT                             Homo sapiens  (Human), 109 aa.       113   cg44002835   713   CAGCCAAAG   A   G           SILENT-   UNCLASSIFIED   Human Gene SWISSPROT-   5.0e−312   12                   GAAACACACT                   NONCODING       ACC: Q13585 MELATONIN-RELATED                   TGAGAG[A/G]                           RECEPTOR (H9) -  Homo sapiens                     CAGGAGACC                           (Human), 613 aa.                   CTCACTGAC                   GTGAGAT       114   cg43938133   1412   GTCAGACTC   C   A           SILENT-   UNCLASSIFIED   Human Gene SWISSPROT-   6.6e−310    5                   AGGGGCTGA                   NONCODING       ACC: Q14195 DIHYDROPYRIMIDINASE                   GTAACAG[C/A]                           RELATED PROTEIN-3 (DRP-3) (UNC-                   AGAGCAGAG                           33-LIKE PHOSPHOPROTEIN) (ULIP                   AGTGCAGAA                           PROTEIN) -  Homo sapiens  (Human),                   GTGGACG                           570 aa.       115   cg34773615   581   GGGGACAAA   G   A   Asp   Asn (218)   CONSERVATIVE   dynein   Human Gene SWISSPROT-ID: Q13561   6.90E−205   12                   GGGACTTGA                           DYNACTIN, 50 KD ISOFORM (50 KD                   TTTCTCA[G/A]                           DYNEIN-ASSOCIATED                   ATCGTATTGG                           POLYPEPTIDE) (DYNAMITIN) -  HOMO                     AAAAACCAAG                             SAPIENS  (HUMAN), 406 aa.                   AGGAC       116   cg43956575   1506   TGGTGGTCAT   A   G   Ile   Val (219)   CONSERVATIVE   immunoglob   Human Gene SWISSNEW-ID: P15884    0                   GGGGACATG                           TRANSCRIPTION FACTOR 4                   CATGGA[A/G]                           (IMMUNOGLOBULIN TRANSCRIPTION                   TCATTGGACC                           FACTOR 2) (ITF-2) (SL3-3 ENHANCER                   TTCTCATAAT                           FACTOR 2) (SEF-2) -  HOMO SAPIENS                     GGAGC                           (HUMAN), 667 aa.       117   cg43928793   670   CCCAACGGG   A   G   Lys   Arg (220)   CONSERVATIVE   kinase   Human Gene SWISSNEW-ID: Q15831   4.70E−237                   GAGGCCAAC                           SERINE/THREONINE-PROTEIN                   GTGAAGA[A/                           KINASE 11 (SERINE/THREONINE-                   G]GGAAATTC                           PROTEIN KINASE LKB1) -  HOMO                     AACTACTGAG                             SAPIENS  (HUMAN), 433                   GAGGTTA                           aa.lpcls: SWISSPROT-ID: Q15831                                               SERINE/THREONINE-PROTEIN                                               KINASE 11 (SERINE/THREONINE-                                               PROTEIN KINASE LKB1) -  HOMO                                                   SAPIENS  (HUMAN), 433                                               aa.lpcls: SPTREMBL-ID: Q15831                                               SERINE/THREONINE PROTEIN                                               KINASE -  HOMO SAPIENS  (HUMAN),                                               433 aa.lpcls: TREMBLNEW-                                               ID: G2754827 SERINE THREONINE                                               KINASE 11 -  HOMO SAPIENS                                                 (HUMAN), 433 aa.       118   cg43960489   1589   TCGGAGGTA   A   C   Val   Gly (221)   CONSERVATIVE   kinase   Human Gene SWISSPROT-ID: P36507   6.10E−212    7                   CGCCAAGCC                           DUAL SPECIFICITY MITOGEN-                   CCGGAGA[A/                           ACTIVATED PROTEIN KINASE                   C]CCGCGATG                           KINASE 2 (EC 2.7.1.-) (MAP KINASE                   CTGACCTTTCC                           KINASE 2) (MAPKK 2) (ERK                   CCAGGAT                           ACTIVATOR KINASE 2) (MAPK/ERK                                               KINASE 2) (MEK2) -  HOMO SAPIENS                                                 (HUMAN), 400 aa.       119   cg44937279   98   TTCGGGATTT   G   C   Gly   Ala (222)   CONSERVATIVE   kinasereceptor   Human Gene SWISSPROT-ID: P54764    0                   GCGACGCTG                           EPHRIN TYPE-A RECEPTOR 4                   TCACAG[G/C]                           PRECURSOR (EC 2.7.1.112)                   TTCCAGGGTA                           (TYROSINE-PROTEIN KINASE                   TACCCCGCG                           RECEPTOR SEK) (RECEPTOR                   AATGAA                           PROTEIN-TYROSINE KINASE HEK8) -                                                 HOMO SAPIENS  (HUMAN), 986 aa.       120   cg43958927   537   AGTATGTATT   C   T   Ala   Val (223)   CONSERVATIVE   tgf   Human Gene SPTREMBL-ID: Q13118   1.20E−246                   CCTGGAACA                           TGF-BETA INDUCIBLE EARLY                   AAACTG[C/T]                           PROTEIN -  HOMO SAPIENS  (HUMAN),                   AGAGAAAAG                           480 aa.                   TGATTTTGAA       121   cg42700075   480   CCACCAGGA   A   G   His   Arg (224)   CONSERVATIVE   tnfreceptor   Human Gene TREMBLNEW-   2.40E−153                   TCTCATAGAT                           ID: G2653845 TNF RECEPTOR-                   CAGAAC[A/G]                           RELATED RECEPTOR FOR TRAIL -                   TCCTGGAGC                             HOMO SAPIENS  (HUMAN). 386 aa.                   CTGTAACCG                   GTGCACA       122   cg43918146   3071   TAGCCCCTC   A   G   Ile   Val (225)   CONSERVATIVE   transport   Human Gene Similar to SWISSPROT-   1.50E−64   10                   CTCTGCAGG                           ID: P38810 HYPOTHETICAL 104.0 KD                   ACAGTTG[A/G]                           PROTEIN IN HXT5-NRK1 INTERGENIC                   TCCTTCCTG                           REGION -  SACCHAROMYCES                     AGTGCATGA                             CEREVISIAE  (BAKER&#39;S YEAST), 929                   AGCTACT                           aa.       123   cg29352764   238   GCTGACTTTT   C   T   Ala   Val (226)   CONSERVATIVE   ubiquitin   Human Gene Similar to SWISSPROT-   2.20E−53                   TTGTGAGATT                           ID: P54860 UBIQUITIN FUSION                   CGTTG[C/T]T                           DEGRADATION PROTEIN 2 (UB                   CGTATGTTGA                           FUSION PROTEIN 2) -                   ATGACTTGAC                             SACCHAROMYCES CEREVISIAE                     TTTC                           (BAKER&#39;S YEAST), 961 aa.       124   cg43055918   1598   AGGATGGTG   A   G   Val   Ala (227)   CONSERVATIVE   UNCLASSIFIED   Human Gene SWISSPROT-   0   17                   ATGGTGTGG                           ACC: P42694 HYPOTHETICAL                   GTATGGA[A/G]                           PROTEIN KIAA0054 -  Homo sapiens                     CGCTGCCCT                           (Human), 1942 aa.                   GACTGAGAA                   AGGCACG       125   cg42676981   823   GCTGCATTAA   C   T   Val   Ile (228)   CONSERVATIVE   UNCLASSIFIED   Human Gene SWISSPROT-   5.90E−231   15                   CCAGCATGA                           ACC: P08910 PROTEIN PHPS1-2 -                   GAGGAA[C/T]                             Homo sapiens  (Human), 425 aa.                   ATAAATCCTG                   TGCAGGTAC       126   cg43928466   380   GGCTTCATCA   G   A   Arg   Lys (229)   CONSERVATIVE   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O76091   2.40E−179    1                   CCAGGCCTC                           NITRILASE HOMOLOG 1 -  HOMO                     CTCACA[G/A]                             SAPIENS  (HUMAN), 327 aa.                   ATTCCTGTCC                   CTTCTGTGTC       127   cg43973009   447   ATCATCATGA   G   C   Gly   Ala (230)   CONSERVATIVE   UNCLASSIFIED   Human Gene Homologous to   3.40E−123   12                   TTCTGGGCTT                           SWISSNEW-ACC: P19075 TUMOR-                   CCTGG[G/C]A                           ASSOCIATED ANTIGEN CO-029 -                   TGCTGCGGT                             Homo sapiens  (Human), 237 aa.                   GCTATAAAAG       128   cg44927366   393   CTCATCTGAG   C   T   Val   Ile (231)   CONSERVATIVE   UNCLASSIFIED   Human Gene Homologous to   1.50E−120                   CAATTGATCT                           SPTREMBL-ACC: O88695 ALIX -  MUS                     GTTAA[C/T]CA                             MUSCULUS  (MOUSE), 869 aa.                   AATCGGCTTT                   CCTCTGATTA       129   cg39515535   346   TGCTAGGAAT   A   G   Ile   Val (232)   CONSERVATIVE   UNCLASSIFIED   Human Gene Homologous to   2.50E−104                   CTTATGAACA                           SPTREMBL-ACC: Q12309 ORF                   GAGCT[A/G]T                           YLR117C -  SACCHAROMYCES                     TAGTACGTTG                             CEREVISIAE  (BAKER&#39;S YEAST), 687                   CCCAGAGTA                           aa.       130   cg30386657   294   TCAGCTTTAT   C   T   Val   Ile (233)   CONSERVATIVE   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   1.50E−97                   CACCTTCGC                           ACC: P32608 RETROGRADE                   GTAGAA[C/T]                           REGULATION PROTEIN 2 -                   TACTTGTTCT                             Saccharomyces cerevisiae  (Baker&#39;s                   AATTCTTGGG                           yeast), 588 aa.       131   cg43948718   1187   TGAATAAGTG   G   C   Leu   Val (234)   CONSERVATIVE   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   3.40E−84   17                   TCTCATCCAG                           ACC: Q20432 COSMID F45E12 -                   ATCCA[G/C]C                             CAENORHABDITIS ELEGANS , 246 aa.                   ACCAGGATC                   TTCCTCTTCA       132   cg43320682   652   GATGCCCCC   G   A   Ala   Val (235)   CONSERVATIVE   UNCLASSIFIED   Human Gene Similar to TREMBLNEW-   6.60E−81                   TGAAGGTGG                           ACC: CAB45773 HYPOTHETICAL 18.0 KD                   CTCAGGG[G/                           PROTEIN -  HOMO SAPIENS                     A]CTGGGGGA                           (HUMAN), 162 aa (fragment).                   GGCTCCCCT                   GGGGCTTC       133   cg39404419   280   CATAAATGTC   A   G   Val   Ala (236)   CONSERVATIVE   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   1.20E−55                   ACTTGACCTT                           ACC: P27692 TRANSCRIPTION                   GCTCT[A/G]C                           INITIATION PROTEIN SPT5 -                   CATAAGAACT                             Saccharomyces cerevisiae  (Baker&#39;s                   AAACCAGCAT                           yeast), 1063 aa.       134   cg43945992   461   GACAAGAGG   A   G   Glu   Gly (237)   NON-   ATPase_associated   Human Gene SWISSPROT-ID: P13686   1.10E−173   19                   TTCCAGGAG                   CONSERVATIVE       TARTRATE-RESISTANT ACID       (19p13.3)                   ACCTTTG[A/G]                           PHOSPHATASE TYPE 5 PRECURSOR                   GGACGTATT                           (EC 3.1.3.2) (TR-AP) (TARTRATE-                   CTCTGACCG                           RESISTANT ACID ATPASE)                   CTCCCTT                           (TRATPASE) -  HOMO SAPIENS                                                 (HUMAN), 323 aa.       135   cg43284434   2269   GAAGTTATGG   T   C   Met   Thr (238)   NON-   ATPase_associated   Human Gene Homologous to   4.00E−121    6                   AGACTTACAT                   CONSERVATIVE       SPTREMBL-ID: Q18788 C52E4.5 -                   GTATA[T/C]GT                             CAENORHABDITIS ELEGANS , 590 aa.                   GGAGACTGA                   CTCATGATCC       136   cg43250373   264   TCTCACACAA   A   C   Lys   Thr (239)   NON-   ATPase_associated   Human Gene Similar to TREMBLNEW-   1.40E−100   10                   GTTTATACAT                   CONSERVATIVE       ID: G2921585 ECTO-ATPASE -  MUS         (10q24)                   CTATA[A/C]GT                             MUSCULUS  (MOUSE), 495 aa.                   GGCCAGCAG                   AAAAGGAGA       137   cg43127783   3484   TTTGGCTGG   A   G   Gln   Arg (240)   NON-   cadherin   Human Gene SWISSPROT-ID: P20702   0.00E+00   16                   GTCCGCCAG                   CONSERVATIVE       LEUKOCYTE ADHESION       (16p11.2)                   ATATTGC[A/G]                           GLYCOPROTEIN P150,95 ALPHA                   GAAGAAGGT                           CHAIN PRECURSOR (LEUKOCYTE                   GTCGGTCGT                           ADHESION RECEPTOR P150,95)                   GAGTGTG                           (CD11C) (LEU M5) (INTEGRIN ALPHA-                                               X) -  HOMO SAPIENS  (HUMAN), 1163                                               aa.       138   cg43266931   152   CGGACACGT   T   C   Glu   Gly (241)   NON-   chloride_channel   Human Gene Similar to SWISSNEW-   3.10E−59    9                   GTATTTGAAC                   CONSERVATIVE       ID: O15247 CHLORIDE                   TCTTTC[T/C]C                           INTRACELLULAR CHANNEL PROTEIN                   CTGCATCGC                           2 (XAP121) -  HOMO SAPIENS                     GCTGTCCAG                           (HUMAN), 243 aa.lpcls: SWISSPROT-                   GTAGCG                           ID: O15247 CHLORIDE                                               INTRACELLULAR CHANNEL PROTEIN                                               2 (XAP121) -  HOMO SAPIENS                                                 (HUMAN), 243 aa.       139   cg43970983   8726   TACCAGGAC   A   G   Asp   Gly (242)   NON-   collagen   Human Gene SWISSPROT-ID: Q02388   0.00E+00   3 (3p21.3)                   CCTGAAGCT                   CONSERVATIVE       COLLAGEN ALPHA 1(VII) CHAIN                   CCTTGGG[A/                           PRECURSOR (LONG-CHAIN                   G]TAGTGATG                           COLLAGEN) (LC COLLAGEN) -  HOMO                     ACCCCTGTTC                             SAPIENS  (HUMAN), 2944 aa.       140   cg43063256   579   GTGCAACTTC   G   A   Glu   Lys (243)   NON-   complement   Human Gene SWISSNEW-ID: P07358   0.00E+00   1 (1p32)                   TCTGACAAG                   CONSERVATIVE       COMPLEMENT COMPONENT C8                   GAAGTC[G/A]                           BETA CHAIN PRECURSOR -  HOMO                     AAGACTGTGT                             SAPIENS  (HUMAN), 591                   TACCAACAGA                           aa.lpcls: SWISSPROT-ID: P07358                   CCATG                           COMPLEMENT COMPONENT C8                                               BETA CHAIN PRECURSOR -  HOMO                                                   SAPIENS  (HUMAN), 591 aa.       141   cg42725090   478   AGAGAACTTT   G   T   Asp   Tyr (244)   NON-   cyclin   Human Gene SPTREMBL-ID: Q13309   5.80E−216                   CCAGGTGTTT                   CONSERVATIVE       CYCLIN A/CDK2-ASSOCIATED P45 -                   CATGG[G/T]A                             HOMO SAPIENS  (HUMAN), 435 aa.                   CTCCCTTCCG                   GATGAGCTG       142   cg43947230   817   GAAGACCTG   C   A   Ala   Asp (245)   NON-   dna_ma_bind   Human Gene SWISSNEW-ID: P12956   0.00E+00   22                   TTGCGGAAG                   CONSERVATIVE       ATP-DEPENDENT DNA HELICASE II,       (22q11)                   GTTCGCG[C/                           70 KD SUBUNIT (LUPUS KU                   A]CAAGGAGA                           AUTOANTIGEN PROTEIN P70) (70 KD                   CCAGGAAGC                           SUBUNIT OF KU ANTIGEN) (THYROID-                   GAGCACTC                           LUPUS AUTOANTIGEN) (TLAA) (KU70)                                               (CTC BOX BINDING FACTOR 75 KD                                               SUBUNIT) (CTCBF) (CTC75) -  HOMO                                                   SAPIENS  (HUMAN), 608                                               aa.lpcls: SWISSPROT-ID: P12956 ATP-                                               DEPENDENT DNA HELICASE II, 70 KD                                               SUBUNIT (LUPUS KU AUTOANTIGEN                                               PROTEIN P70) (70 KD SUBUNIT OF                                               KU ANTIGEN) (THYROID-LUPUS                                               AUTOANTIGEN) (TLAA) (KU70) (CTC                                               BOX BINDING FACTOR 75 KD                                               SUBUNIT) (CTCBF) (CTC75) -  HOMO                                                   SAPIENS  (HUMAN), 608 aa.       143   cg43947230   1062   CTATGGGAG   G   A   Glu   Lys (246)   NON-   dna_rna_bind   Human Gene SWISSNEW-ID: P12956   0.00E+00   22                   TCGTCAGATT                   CONSERVATIVE       ATP-DEPENDENT DNA HELICASE II,       (22q11)                   ATACTG[G/A]                           70 KD SUBUNIT (LUPUS KU                   AGAAAGAGG                           AUTOANTIGEN PROTEIN P70) (70 KD                   AAACAGAAG                           SUBUNIT OF KU ANTIGEN) (THYROID-                   AGCTAAA                           LUPUS AUTOANTIGEN) (TLAA) (KU70)                                               (CTC BOX BINDING FACTOR 75 KD                                               SUBUNIT) (CTCBF) (CTC75) -  HOMO                                                   SAPIENS  (HUMAN), 608                                               aa.lpcls: SWISSPROT-ID: P12956 ATP-                                               DEPENDENT DNA HELICASE II, 70 KD                                               SUBUNIT (LUPUS KU AUTOANTIGEN                                               PROTEIN P70) (70 KD SUBUNIT OF                                               KU ANTIGEN) (THYROID-LUPUS                                               AUTOANTIGEN) (TLAA) (KU70) (CTC                                               BOX BINDING FACTOR 75 KD                                               SUBUNIT) (CTCBF) (CTC75) -  HOMO                                                   SAPIENS  (HUMAN), 608 aa.       144   cg43065490   1923   CGAGAACAC   G   A   Ala   Thr (247)   NON-   glycoprotein   Human Gene SWISSPROT-ID: P16452   0.00E+00   15                   CTTCCTTAGA                   CONSERVATIVE       ERYTHROCYTE MEMBRANE       (15q15)                   CTCACC[G/A]                           PROTEIN BAND 4.2 (P4.2) (PALLIDIN) -                   CCATGGCAA                             HOMO SAPIENS  (HUMAN), 690 aa.                   CACACTCTGA                   ATCCAA       145   cg41029366   770   CAGGCCCTG   C   T   Thr   Met (248)   NON-   glycoprotein   Human Gene SPTREMBL-ID: Q61003 T   1.00E−234   11                   CCCGGCTTG                   CONSERVATIVE       CELL SURFACE GLYCOPROTEIN CD6 -                   CACTTCA[C/T]                             MUS MUSCULUS  (MOUSE), 665 aa.                   GCCCGGCCG                   CGGGCCTAT                   CCACCGG       146   cg41029366   793   CACGCCCGG   C   T   Arg   Trp (249)   NON-   glycoprotein   Human Gene SPTREMBL-ID: Q61003 T   1.00E−234   11                   CCGCGGGCC                   CONSERVATIVE       CELL SURFACE GLYCOPROTEIN CD6 -                   TATCCAC[C/T]                             MUS MUSCULUS  (MOUSE), 665 aa.                   GGGACCAGG                   TGAACTGCTC                   GGGGGC       147   cg43924995   961   TACTCCAAAG   G   A   Gly   Arg (250)   NON-   glycoprotein   Human Gene SWISSPROT-ID: P13473   1.20E−222   X (Xq24)                   GAAAAACCA                   CONSERVATIVE       LYSOSOME-ASSOCIATED                   GAAGCT[G/A]                           MEMBRANE GLYCOPROTEIN 2                   GAACCTATTC                           PRECURSOR (LAMP-2) (CD107B                   AGTTAATAAT                           ANTIGEN) -  HOMO SAPIENS                     GGCAA                           (HUMAN), 410 aa.       148   cg39524418   1074   CAGGCCCTG   C   T   Thr   Met (251)   NON-   glycoprotein   Human Gene SPTREMBL-ID: Q61003 T   2.70E−163   11                   CCCGGCTTG                   CONSERVATIVE       CELL SURFACE GLYCOPROTEIN CD6 -                   CACTTCA[C/T]                             MUS MUSCULUS  (MOUSE), 665 aa.                   GCCCGGCCG                   CGGGCCTAT                   CCACCGG       149   cg41541224   425   GCGCCCCAC   C   T   Thr   Met (252)   NON-   interferon   Human Gene Similar to SWISSPROT-   4.90E−68                   AACCCTGCT                   CONSERVATIVE       ID: Q01628 INTERFERON-INDUCIBLE                   CCCCCGA[C/                           PROTEIN 1-8U -  HOMO SAPIENS                     T]GTCCACCG                           (HUMAN), 133 aa.                   TGATCCACAT                   CCGCAGC       150   cg39545690   116   GACCCCTCT   A   G   Asp   Gly (253)   NON-   isomerase   Human Gene Homologous to   9.70E−143                   GTTCAAATTG                   CONSERVATIVE       SWISSPROT-ID: P29952 MANNOSE-6-                   AACAAG[A/G]                           PHOSPHATE ISOMERASE (EC                   TAAACCATAT                           5.3.1.8) (PHOSPHOMANNOSE                   GCAGAGTTAT                           ISOMERASE) (PMI)                   GGATG                           (PHOSPHOHEXOMUTASE) -                                                 SACCHAROMYCES CEREVISIAE                                                 (BAKER&#39;S YEAST), 428 aa.       151   cg43928793   673   AACGGGGAG   A   G   Glu   Gly (254)   NON-   kinase   Human Gene SWISSNEW-ID: Q15831   4.70E−237                   GCCAACGTG                   CONSERVATIVE       SERINE/THREONINE-PROTEIN                   AAGAAGG[A/                           KINASE 11 (SERINE/THREONINE-                   G]AATTCAAC                           PROTEIN KINASE LKB1) -  HOMO                     TACTGAGGA                             SAPIENS  (HUMAN), 433                   GGTTACGG                           aa.lpcls: SWISSPROT-ID: Q15831                                               SERINE/THREONINE-PROTEIN                                               KINASE 11 (SERINE/THREONINE-                                               PROTEIN KINASE LKB1) -  HOMO                                                   SAPIENS  (HUMAN), 433                                               aa.lpcls: SPTREMBL-ID: Q15831                                               SERINE/THREONINE PROTEIN                                               KINASE -  HOMO SAPIENS  (HUMAN),                                               433 aa.lpcls: TREMBLNEW-                                               ID: G2754827 SERINE THREONINE                                               KINASE 11 -  HOMO SAPIENS                                                 (HUMAN), 433 aa.       152   cg39550370   273   TGTAGGGGC   C   T   Leu   Phe (255)   NON-   kinase   Human Gene Similar to SWISSPROT-   6.70E−78                   GGATTTCCTG                   CONSERVATIVE       ID: P32264 GLUTAMATE 5-KINASE (EC                   TTCTTG[C/T]T                           2.7.2.11) (GAMMA-GLUTAMYL                   CACAGATGT                           KINASE) (GK) -  SACCHAROMYCES                     GGACTGCCT                             CEREVISIAE  (BAKER&#39;S YEAST), 428                   ATATAC                           aa.       153   cg44031523   304   GAGCCCACA   C   G   Trp   Cys (256)   NON-   kinase   Human Gene Similar to SPTREMBL-   2.70E−57   19                   CCTGCACTC                   CONSERVATIVE       ID: P70218 SER/THR KINASE -  MUS                     CATGCTT[C/G]                             MUSCULUS  (MOUSE), 827 aa.                   CAGAAGGCC                   TGAAGCTGA                   CCTCCAA       154   cg43935583   1223   AGAAAGTATG   A   G   Glu   Gly (257)   NON-   nucl_recpt   Human Gene SWISSPROT-ID: P50502   1.30E−195   22                   AGCGAAAAC                   CONSERVATIVE       HSC70-INTERACTING PROTEIN                   GTGAAG[A/G]                           (PROGESTERONE RECEPTOR-                   GCGAGAGAT                           ASSOCIATED P48 PROTEIN) -  HOMO                     CAAAGAAAG                             SAPIENS  (HUMAN), 369 aa.                   AATAGAA       155   cg39607867   278   ACAGCGGGA   C   T   Pro   Ser (258)   NON-   nuclease   Human Gene Similar to SWISSPROT-   7.00E−69                   GGGAAAACT                   CONSERVATIVE       ID: P39875 EXONUCLEASE I (EXO I)                   GATGATA[C/T]                           (DHS1 PROTEIN) -                   CAGACACAT                             SACCHAROMYCES CEREVISIAE                     ACATTAATGA                           (BAKER&#39;S YEAST), 702 aa.       156   cg39607867   317   TAATGAATAT   G   A   Ala   Thr (259)   NON-   nuclease   Human Gene Similar to SWISSPROT-   7.00E−69                   GAAGCTGCA                   CONSERVATIVE       ID: P39875 EXONUCLEASE I (EXO I)                   GTTTTA[G/A]C                           (DHS1 PROTEIN) -                   ATTTCAATTC                             SACCHAROMYCES CEREVISIAE                     CAAAGGGTA                           (BAKER&#39;S YEAST), 702 aa.       157   cg43991433   1312   CCTACCTGAA   G   A   Ala   Thr (260)   NON-   oncogene   Human Gene SWISSPROT-ID: P10242   0.00E+00    6                   GAAAGCGCC                   CONSERVATIVE       MYB PROTO-ONCOGENE PROTEIN                   TCGCCA[G/A]                           (C-MYB) -  HOMO SAPIENS  (HUMAN),                   CAAGGTGCA                           640 aa.                   TGATCGTCCA                   CCAGGG       158   cg43280482   1576   GGAGGTGGA   G   C   Gly   Arg (261)   NON-   oncogene   Human Gene Similar to TREMBLNEW-   3.90E−62    8                   GCTGTCCTTC                   CONSERVATIVE       ID: G2952331 ARG/ABL-INTERACTING                   CGCAAG[G/C]                           PROTEIN ARGBP2A -  HOMO SAPIENS                     GAGAGCACA                           (HUMAN), 666 aa.                   TCTGCCTGAT                   CCGCAA       159   cg43917924   4282   ACAGCATTTT   C   A   Val   Phe (262)   NON-   protease   Human Gene Similar to SPTREMBL-   1.80E−81   3 (3q21)                   CCATATTCCC                   CONSERVATIVE       ID: Q19831 SIMILAR TO NEPRILYSIN                   ATTGA[C/A]AT                           AND OTHER ZINC PROTEASES -                   AGTTTGCACA                             CAENORHABDITIS ELEGANS , 754 aa.                   ACGTCTCCAA       160   cg43973395   237   ACCGAGGAG   A   G   Glu   Gly (263)   NON-   struct   Human Gene Homologous to   2.00E−114   19                   CAGGAATAT                   CONSERVATIVE       SWISSNEW-ID: P13805 TROPONIN T,       (19q13.4)                   GAGGAGG[A/                           SLOW SKELETAL MUSCLE                   G]GCAGCCG                           ISOFORMS -  HOMO SAPIENS                     GAAGAGGAG                           (HUMAN), 277 aa.lpcls: SWISSPROT-                   GCTGCGGAG                           ID: P13805 TROPONIN T, SLOW                                               SKELETAL MUSCLE ISOFORMS -                                                 HOMO SAPIENS  (HUMAN), 277 aa.       161   cg43282400   597   ATTTATATTC   G   T   Ala   Ser (264)   NON-   struct   Human Gene Similar to SWISSPROT-   8.00E−84   14                   TGGGCTCCT                   CONSERVATIVE       ID: P45591 COFILIN, MUSCLE                   GAAAGT[G/T]                           ISOFORM -  MUS MUSCULUS                     CACCTTTAAA                           (MOUSE), 166 aa.                   AAGCAAGAT       162   cg43958927   564   GAGAAAAGT   A   T   Glu   Val (265)   NON-   tgf   Human Gene SPTREMBL-ID: Q13118   1.20E−246                   GATTTTGAAG                   CONSERVATIVE       TGF-BETA INDUCIBLE EARLY                   CTGTAG[A/T]                           PROTEIN -  HOMO SAPIENS  (HUMAN),                   AGCACTTATG                           480 aa.                   TCAATGAGCT       163   cg42886565   583   GTGTTTGTAG   A   G   Asn   Ser (266)   NON-   tm7   Human Gene SWISSPROT-ID: P25116   4.40E−225   5 (5q13)                   TCAGCCTCC                   CONSERVATIVE       THROMBIN RECEPTOR PRECURSOR -                   CACTAA[A/G]                             HOMO SAPIENS  (HUMAN), 425 aa.                   CATCATGGC                   CATCGTTGTG       164   cg44004199   3881   GGTGCAGTA   C   T   Ala   Thr (267)   NON-   transcriptfactor   Human Gene TREMBLNEW-   0.00E+00                   CTTGAAGTAC                   CONSERVATIVE       ID: G404510 AH RECEPTOR = LIGAND-                   TTGAAG[C/T]                           DEPENDENT TRANSCRIPTION                   AGGATAGAG                           FACTOR -  HOMO SAPIENS , 808 aa.                   ATAAATAGAC       165   cg43984259   1169   CGAACTGCT   C   T   Ser   Asn (268)   NON-   transcriptfactor   Human Gene SWISSPROT-ID: Q16254   5.50E−211   16                   GCTGCTACT                   CONSERVATIVE       TRANSCRIPTION FACTOR E2F4 (E2F-       (16q22.1)                   GTTGCTG[C/T]                           4) -  HOMO SAPIENS  (HUMAN), 413 aa.                   TGCTGCTGC                   TGCTGCTGCT       166   cg43995839   985   ATGGAAAGC   A   T   Lys   Ile (269)   NON-   transcriptfactor   Human Gene SWISSPROT-ID: Q15545   2.50E−183    5                   TTGAAAACCA                   CONSERVATIVE       TRANSCRIPTION INITIATION FACTOR                   TTGATA[A/T]A                           TFIID 55 KD SUBUNIT (TAFII-55)                   AAAACTTTTT                           (TAFII55) -  HOMO SAPIENS  (HUMAN),                   ACAAGACAG                           349 aa.lpcls: SPTREMBL-ID: Q15545                   CTGAT                           TRANSCRIPTION FACTOR IID -                                                 HOMO SAPIENS  (HUMAN), 349 aa.       167   cg43995839   1048   CTTGTATCCA   T   C   Leu   Pro (270)   NON-   transcriptfactor   Human Gene SWISSPROT-ID: Q15545   2.50E−183    5                   CAGTTGATG                   CONSERVATIVE       TRANSCRIPTION INITIATION FACTOR                   GTGATC[T/C]                           TFIID 55 KD SUBUNIT (TAFII-55)                   CTATCCTCCT                           (TAFII55) -  HOMO SAPIENS  (HUMAN),                   GTGGAGGAG                           349 aa.lpcls: SPTREMBL-ID: Q15545                   CCAGTT                           TRANSCRIPTION FACTOR IID -                                                 HOMO SAPIENS  (HUMAN), 349 aa.       168   cg44130900   1216   GGTGGTATT   A   T   Met   Leu (271)   NON-   transcriptfactor   Human Gene SPTREMBL-ID: Q15574   7.5e−310    2                   GAAACTGCT                   CONSERVATIVE       TRANSCRIPTION FACTOR SL1 -                   CTTTCTA[A/T]                             HOMO SAPIENS  (HUMAN), 556 aa                   TGGATGACA                           (fragment).                   GTTTCGAGTG       169   cg43916882   1910   AAGAGGGCC   T   C   Thr   Ala (272)   NON-   transferase   Human Gene SWISSPROT-ID: P39656   5.30E−245    1                   CAAGCCCGG                   CONSERVATIVE       DOLICHYL-                   GCCGCGG[T/                           DIPHOSPHOOLIGOSACCHARIDE -                   C]GCTGGGCT                           PROTEIN GLYCOSYLTRANSFERASE                   CCATCTTCCT                           48 KD SUBUNIT PRECURSOR (EC                   CCTCCTG                           2.4.1.119) (OLIGOSACCHARYL                                               TRANSFERASE 48 KD SUBUNIT)                                               (DDOST48 KD SUBUNIT) (KIAA0115)                                               (HA0643) -  HOMO SAPIENS  (HUMAN),                                               456 aa.       170   cg36622055   924   ACTCTTTGTC   C   T   Met   Ile (273)   NON-   UNCLASSIFIED   Human Gene TREMBLNEW-   1.10E−216                   CACTTTCAGG                   CONSERVATIVE       ACC: AAD44755 SPHINGOSINE-1-                   AATGA[C/T]AT                           PHOSPHATE ALDOLASE (EC 4.1.2.27) -                   GTTCTTGCTA                             HOMO SAPIENS  (HUMAN), 568 aa.                   ATATCATCCT       171   cg43985129   2653   AGCTTCCTCT   G   T   Ala   Glu (274)   NON-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: Q99442   3.70E−213    3                   CCTTTCTTGG                   CONSERVATIVE       TRANSLOCATIONAL PROTEIN-1 -                   CCTTT[G/T]CC                             HOMO SAPIENS  (HUMAN), 399 aa.                   CACTTTGAAT                   CCAAAAGAC       172   cg43083763   1142   GGAGAGACA   A   G   Ile   Met (275)   NON-   UNCLASSIFIED   Human Gene SWISSNEW-   1.10E−211   2 (2q36)                   TCGTCAGCTA                   CONSERVATIVE       ACC: P21549 SERINE —PYRUVATE                   CGTCAT[A/G]                           AMINOTRANSFERASE (EC 2.6.1.51)                   GACCACTTC                           (SPT) (ALANINE —GLYOXYLATE                   GACATTGAG                           AMINOTRANSFERASE) (EC 2.6.1.44)                   ATCATGG                           (AGT) -  HOMO sapiens  (Human), 392                                               aa.       173   cg43944629   1019   CTATTCCACG   G   A   Pro   Ser (276)   NON-   UNCLASSIFIED   Human Gene TREMBLNEW-   5.80E−192    8                   TGCCAGGGT                   CONSERVATIVE       ACC: AAD43012 HSPC035 PROTEIN -                   AGGAGG[G/A]                             HOMO SAPIENS  (HUMAN), 339 aa.                   AGGATAGGA                   CGGGTAGTA                   CCACGAG       174   cg44001387   219   CTCGGCCGG   C   T   Pro   Ser (277)   NON-   UNCLASSIFIED   Human Gene SWISSNEW-   8.40E−184   10                   GGCTGTCGT                   CONSERVATIVE       ACC: O14832 PEROXISOMAL                   AGCTCAT[C/T]                           PHYTANOYL-COA ALPHA-                   CCACTTCAG                           HYDROXYLASE PRECURSOR                   GGACTATTTC                           (PHYTANIC ACID OXIDASE) -  Homo                     CTCTGC                             sapiens  (Human), 338 aa.       175   cg42910160   852   CACCGCACC   T   C   Ile   Thr (278)   NON-   UNCLASSIFIED   Human Gene SWISSPROT-   1.60E−171    9                   CTGGTCTATG                   CONSERVATIVE       ACC: O00757 FRUCTOSE-1,6-                   GAGGAA[T/C]                           BISPHOSPHATASE ISOZYME 2 (EC                   CTTCCTGTAC                           3.1.3.11) (D-FRUCTOSE-1,6-                   CCAGCCAAC                           BISPHOSPHATE 1-                   CAGAAG                           PHOSPHOHYDROLASE) (FBPASE) -                                                 Homo sapiens  (Human), 339 aa.       176   cg43942787   414   ACACTTCTAG   T   C   Leu   Pro (279)   NON-   UNCLASSIFIED   Human Gene SPTREMBL-ACC: Q15327   3.60E−167   10                   CCCACCCTG                   CONSERVATIVE       NUCLEAR PROTEIN -  HOMO                     TGACCC[T/C]                             SAPIENS  (HUMAN), 319 aa.                   GGGGGAGCA                   ACAGTGGAA                   AAGCGAG       177   cg43994856   829   GGGCTGCAG   T   C   Asp   Gly (280)   NON-   UNCLASSIFIED   Human Gene SWISSNEW-   2.40E−163   19                   GATGTCCGA                   CONSERVATIVE       ACC: Q13011 DELTA3,5-DELTA2,4-                   AGCCATG[T/C]                           DIENOYL-COA ISOMERASE                   CCATCAGGT                           PRECURSOR (EC 5.3.3.-) -  Homo                     CAATACCTGC                             sapiens  (Human), 328 aa.                   AGTGAA       178   cg42910688   992   CGGCTGGCC   A   G   Glu   Gly (281)   NON-   UNCLASSIFIED   Human Gene SWISSPROT-   7.70E−158    8                   TACCAGAAAA                   CONSERVATIVE       ACC: P55040 GTP-BINDING PROTEIN                   GGAAGG[A/G]                           GEM (GTP-BINDING MITOGEN-                   GAGCATGCC                           INDUCED T-CELL PROTEIN) (RAS-                   CAGGAAAGC                           LIKE PROTEIN KIR) -  Homo sapiens                     CAGGCGC                           (Human), 296 aa.       179   cg42364904   552   AAGGGGCCG   C   T   Pro   Leu (282)   NON-   UNCLASSIFIED   Human Gene Homologous to   2.60E−112                   GTGACCTTCA                   CONSERVATIVE       TREMBLNEW-ACC: CAB45688                   GGGACC[C/T]                           PROLINE RICH SYNAPSE                   GCTGCTGAA                           ASSOCIATED PROTEIN 2 -  RATTUS                     GCAGTCCTC                             NORVEGICUS  (RAT), 1806 aa.                   GGACAGC       180   cg43999798   597   GGAACTCGA   G   T   Asp   Tyr (283)   NON-   UNCLASSIFIED   Human Gene Homologous to   1.40E−103                   CTCAGACGT                   CONSERVATIVE       SWISSNEW-ACC: O60232                   GGATAAA[G/T]                           AUTOANTIGEN P27 -  Homo sapiens                     ATAATCCCG                           (Human), 199 aa.                   CTCTGAATGC                   CCAGGC       181   cg42918968   774   GGAGGTGAA   A   T   Arg   End (284)   NON-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   1.20E−100                   GAAGAATAAA                   CONSERVATIVE       ACC: Q08288 CELL GROWTH                   AGAGAA[A/T]                           REGULATING NUCLEOLAR PROTEIN -                   GAAAGGAAG                             Mus musculus  (Mouse), 388 aa.                   AACGGCAGA                   AGAAAAG       182   cg43149124   376   GCAAAACGA   C   A   Gln   Lys (285)   NON-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   2.10E−84                   AGACCCAAT                   CONSERVATIVE       ACC: Q07825 CHROMOSOME XII                   CACTTGG[C/A]                           READING FRAME ORF YLL029W -                   AAGAATGGT                             SACCHAROMYCES CEREVISIAE                     GTGTCAGAG                           (BAKER&#39;S YEAST), 749 aa.                   AAGCTTT       183   cg43936167   424   AGCATCCCT   C   T   Gly   Glu (286)   NON-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   1.20E−77   20                   GGCAGCTCC                   CONSERVATIVE       ACC: P09012 U1 SMALL NUCLEAR                   AGCCTGC[C/T]                           RIBONUCLEOPROTEIN A (U1 SNRNP                   CATCATTTTC                           A PROTEIN) -  Homo sapiens  (Human),                   AAATTCAACA                           282 aa.       184   cg44933039   618   CACGGCTCT   A   C   His   Pro (287)   NON-   UNCLASSIFIED   Human Gene Similar to TREMBLNEW-   8.50E−72   6 (16pter)                   GCCCAGGTT                   CONSERVATIVE       ACC: AAC72839 ALPHA-2 GLOBIN -                   AAGGGCC[A/                             HOMO SAPIENS  (HUMAN), 142 aa.                   C]CGGCAAGA                   AGGTGGCCG                   ACGCGCTG       185   cg43294227   432   GCCACCTCC   T   A   Leu   Gln (288)   NON-   UNCLASSIFIED   Human Gene Similar to TREMBLNEW-   6.10E−66    8                   GTGTCGGAG                   CONSERVATIVE       ACC: BAA74880 KIAA0857 PROTEIN -                   CGCAGCC[T/                             HOMO SAPIENS  (HUMAN), 733 aa                   A]GGGCGCG                           (fragment).                   CCCGTGTGG                   CGCGAGGAG       186   cg29264923   441   GTGTTCTTCC   G   A   Pro   Ser (289)   NON-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   1.00E−59                   CCCAAGGCC                   CONSERVATIVE       ACC: O43866 SP ALPHA -  HOMO                     CAGAAG[G/A]                             SAPIENS  (HUMAN), 347 aa.                   GCAATCCTG                   AAGGGTTGC                   TTCTCGT       187   cg44128084   411   CGTGCTTAAA   C   T   His   Tyr (290)   NON-   UNCLASSIFIED   Human Gene Similar to SPTREMBL-   1.70E−59                   ACCACCGTC                   CONSERVATIVE       ACC: O33196 HYPOTHETICAL 32.9 KD                   ACCGAG[C/T]                           PROTEIN -  MYCOBACTERIUM                     ATTCCGGAC                             TUBERCULOSIS , 307 aa.                   AACACCGTT       188   cg20688990   331   ACAGTCACA   G   A   Ser   Asn (291)   NON-   UNCLASSIFIED   Human Gene Similar to REMTREMBL-   7.20E−59   22                   CTCACTTGTG                   CONSERVATIVE       ACC: E1227587 IMMUNOGLOBULIN       (22q11.12)                   GCTTGA[G/A]                           LAMBDA LIGHT CHAIN PRECURSOR -                   CTCTGGCTCA                             HOMO SAPIENS  (HUMAN), 239 aa.                   GTCTCTACTA       189   cg27960239   207   TTGGTTGTGC   C   A   Leu   Met (292)   NON-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   7.00E−56                   CTTTTGAATT                   CONSERVATIVE       ACC: P49687 NUCLEOPORIN NUP145                   TGACA[C/A]T                           (NUCLEAR PORE PROTEIN NUP145) -                   GTGCTACGG                             Saccharomyces cerevisiae  (Baker&#39;s                   CCAGATAGAT                           yeast), 1317 aa.       190   cg27960239   321   TGGAGTTATT   G   A   Ala   Thr (293)   NON-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   7.00E−56                   TTCCAACTAT                   CONSERVATIVE       ACC: P49687 NUCLEOPORIN NUP145                   ATGCT[G/A]C                           (NUCLEAR PORE PROTEIN NUP145) -                   TAATGAAAAT                             Saccharomyces cerevisiae  (Baker&#39;s                   ACGGAGAAG                           yeast), 1317 aa.       191   cg39380052   367   AACGCTGGA   A   G   Asp   Gly (294)   NON-   UNCLASSIFIED   Human Gene Similar to TREMBLNEW-   1.30E−50                   CACACTGTC                   CONSERVATIVE       ACC: CAB42016 PUTATIVE                   GTCGTCG[A/                           ADENYLOSUCCINATE SYNTHETASE -                   G]TGACGAGA                             STREPTOMYCES COELICOLOR , 427                   AGTTCTTCAT                           aa.       192   cg39380052   483   TGACGTGCT   G   A   Ala   Thr (295)   NON-   UNCLASSIFIED   Human Gene Similar to TREMBLNEW-   1.30E−50                   GGCCGATGA                   CONSERVATIVE       ACC: CAB42016 PUTATIVE                   GATCGAC[G/                           ADENYLOSUCCINATE SYNTHETASE -                   A]CCTTGCGC                             STREPTOMYCES COELICOLOR , 427                   GGCCGCGGC                           aa.                   GTAGACAT       193   cg28971773   58   CCATCTTGGA   G   A   Ala   Thr (296)   NON-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   4.50E−50                   TGGGTACGA                   CONSERVATIVE       ACC: Q12417 PRL1/PRL2-LIKE                   TGCGTT[G/A]                           PROTEIN -  Saccharomyces cerevisiae                     CAATCGATCC                           (Baker&#39;s yeast), 451 aa.                   TGTTGACAAC       194   cg28971773   79   CGTTGCAATC   G   A   Glu   Lys (297)   NON-   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   4.50E−50                   GATCCTGTTG                   CONSERVATIVE       ACC: Q12417 PRL1/PRL2-LIKE                   ACAAC[G/A]A                           PROTEIN -  Saccharomyces cerevisiae                     ATGGTTCATC                           (Baker&#39;s yeast), 451 aa.                   ACCGGAAGT       195   cg43300900   969   TCTACATCCC   G   gap   Ala   Pro (298)   FRAMESHIFT   dehydrogenase   Human Gene Similar to SWISSPROT-   4.90E−61                   AGGCTGCCC                           ID: P29918 NADH-UBIQUINONE                   ACCTAC[G/gap]                           OXIDOREDUCTASE CHAIN 6 (EC                   GCCGAGGC                           1.6.5.3) (NADH DEHYDROGENASE 1,                   CCTGCTCTAC                           CHAIN 6) (NDH-1, CHAIN 6) -                   GGCATCC                             PARACOCCUS DENITRIFICANS , 173                                               aa.       196   cg43300900   970   CTACATCCCA   G   gap   Ala   Pro (299)   FRAMESHIFT   dehydrogenase   Human Gene Similar to SWISSPROT-   4.90E−61                   GGCTGCCCA                           ID: P29918 NADH-UBIQUINONE                   CCTACG[G/gap]                           OXIDOREDUCTASE CHAIN 6 (EC                   CCGAGGCC                           1.6.5.3) (NADH DEHYDROGENASE 1,                   CTGCTCTACG                           CHAIN 6) (NDH-1, CHAIN 6) -                   GCATCCT                             PARACOCCUS DENITRIFICANS , 173                                               aa.       197   cg43068999   666   ACATGTGGG   gap   C   Pro   Pro (300)   FRAMESHIFT   glycoprotein   Human Gene Homologous to   1.60E−119   1 (1q21)                   ACTCTGTGCT                           SWISSPROT-ID: P02743 SERUM                   GCCCCC[gap/                           AMYLOID P-COMPONENT                   C]AGAAAATA                           PRECURSOR (SAP) (9.5S ALPHA-1-                   TCCTGTCTGC                           GLYCOPROTEIN) -  HOMO SAPIENS                     CTATCAG                           (HUMAN), 223 aa.       198   cg43978774   1290   CGATCATGAA   G   gap   Pro   Pro (301)   FRAMESHIFT   interferon   Human Gene Similar to SWISSNEW-   3.50E−50    3                   CTCAAACAG                           ID: Q99873 PROTEIN ARGININE N-                   CAGGCA[G/gap]                           METHYLTRANSFERASE 1 (EC 2.1.1.-)                   GGTCCCCA                           (INTERFERON RECEPTOR 1-BOUND                   TCCACTCAGA                           PROTEIN 4) -  HOMO SAPIENS                     CACCAGC                           (HUMAN), 361 aa.       199   cg43950096   2226   TCCATGGGC   C   gap   Ala   Arg (302)   FRAMESHIFT   isomerase   Human Gene SWISSPROT-ID: Q02790   5.30E−245   12                   AGCGGCGCC                           P59 PROTEIN (HSP BINDING                   GACTGCG[C/gap]                           IMMUNOPHILIN) (HBI) (POSSIBLE                   CCCGCTC                           PEPTIDYL-PROLYL CIS-TRANS                   TCGGTCGCC                           ISOMERASE) (EC 5.2.1.8) (PPIASE)                   TTCATCTCC                           (ROTAMASE) (FKBP52 PROTEIN) (52                                               KD FK506 BINDING PROTEIN) (P52)                                               (FKBP59) -  HOMO SAPIENS  (HUMAN),                                               459 aa.       200   cg43064060   724   CTTTCTGTCG   gap   G   Ala   Gly (303)   FRAMESHIFT   nucl_recpt   Human Gene SWISSPROT-ID: Q07869   4.10E−254   22                   GGATGTCAC                           PEROXISOME PROLIFERATOR                   ACAACG[gap/                           ACTIVATED RECEPTOR ALPHA                   G]CGATTCGT                           (PPAR-ALPHA) -  HOMO SAPIENS                     TTTGGACGAA                           (HUMAN), 468 aa.lpcls: SPTREMBL-                   TGCCAAG                           ID: Q16241 PEROXISOME                                               PROLIFERATOR ACTIVATED                                               RECEPTOR ALPHA -  HOMO SAPIENS                                                 (HUMAN), 468 aa (fragment).       201   cg43064060   724   CTTTCTGTCG   gap   G   Ala   Gly (304)   FRAMESHIFT   nucl_recpt   Human Gene SWISSPROT-ID: Q07869   4.10E−254   22                   GGATGTCAC                           PEROXISOME PROLIFERATOR                   ACAACG[gap/                           ACTIVATED RECEPTOR ALPHA                   G]CGATTCGT                           (PPAR-ALPHA) -  HOMO SAPIENS                     TTTGGACGAA                           (HUMAN), 468 aa.lpcls: SPTREMBL-                   TGCCAAG                           ID: Q16241 PEROXISOME                                               PROLIFERATOR ACTIVATED                                               RECEPTOR ALPHA -  HOMO SAPIENS                                                 (HUMAN), 468 aa (fragment).       202   cg43963568   2687   GGAGAGCCG   gap   C   Gly   Gly (305)   FRAMESHIFT   struct   Human Gene SWISSPROT-ID: Q06828   5.90E−207   1 (1q32.1)                   TAGGTGTAG                           FIBROMODULIN PRECURSOR (FM)                   GCTGGCC[gap/                           (COLLAGEN-BINDING 59 KD                   C]CTTCATC                           PROTEIN) -  HOMO SAPIENS                     CACCCCATA                           (HUMAN), 376 aa.                   GGGGTAAGG       203   cg43986426   1298   AGGAAGTGC   gap   G   Lys   Glu (306)   FRAMESHIFT   ubiquitin   Human Gene SWISSPROT-ID: P41226   0.00E+00    1                   TGAAGGCAA                           UBIQUITIN-ACTIVATING ENZYME E1                   TCTCCAG[gap/                           HOMOLOG (D8) -  HOMO SAPIENS                     G]AAGTTCAT                           (HUMAN), 1011 aa.                   GCCTCTGGA                   CCAGTGGC       204   cg43305091   561   CTTTGGAGA   C   gap   Gln   Gln (307)   FRAMESHIFT   UNCLASSIFIED   Human Gene SPTREMBL-ACC: Q14675   0.00E+00                   GAGAGGTGG                           KIAA0169 PROTEIN -  HOMO SAPIENS                     ACTTGCC[C/gap]                           (HUMAN), 1745 aa (fragment).                   TGCGGCG                   AGGGGAGGA                   CACCAGTGG       205   cg43929503   1209   GGCCAAGGG   G   gap   Ala   Ala (308)   FRAMESHIFT   UNCLASSIFIED   Human Gene SWISSPROT-   0.00E+00    6                   GATGTGCCG                           ACC: P26358 DNA (CYTOSINE-5)-                   CATGCGG[G/                           METHYLTRANSFERASE (EC 2.1.1.37)                   gap]CAGCCA                           (DNA METHYLTRANSFERASE) (DNA                   CCAATGCACT                           METASE) (MCMT) (M.HSAI) -  Homo                     CATGTCCTT                             sapiens  (Human), 1495 aa.       206   cg43947634   1879   GATGGGGCC   G   gap   Ala   Ala (309)   FRAMESHIFT   UNCLASSIFIED   Human Gene SPTREMBL-ACC: Q08380   0.00E+00                   TGATCCTTGC                           MAC-2 BINDING PROTEIN                   CCGAAG[G/gap]                           PRECURSOR -  HOMO SAPIENS                     CAGCTCTG                           (HUMAN), 585 aa.                   CCCAGAGCC                   TGGGTGGC       207   cg43968223   3105   GGCAGCACA   G   gap   Leu   Cys (310)   FRAMESHIFT   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O60342   0.00E+00   14                   ATCTCATGGG                           KIAA0602 PROTEIN -  HOMO SAPIENS                     ACCGCA[G/gap]                           (HUMAN), 962 aa (fragment).                   GATTCGTTT                   GGAGCCCTG                   CATCTTG       208   cg43968223   3106   GCAGCACAA   G   gap   Ile   Ile (311)   FRAMESHIFT   UNCLASSIFIED   Human Gene SPTREMBL-ACC: O60342   0.00E+00   14                   TCTCATGGGA                           KIAA0602 PROTEIN -  HOMO SAPIENS                     CCGCAG[G/gap]                           (HUMAN), 962 aa (fragment).                   ATTCGTTTG                   GAGCCCTGC                   ATCTTGA       209   cg43970111   1219   CGCTGCTCT   G   gap   Arg   Arg (312)   FRAMESHIFT   UNCLASSIFIED   Human Gene TREMBLNEW-   6.50E−193   14                   GGGACAGGG                           ACC: AAD43131 SYLD709613                   TGCGAGA[G/gap]                           PROTEIN -  HOMO SAPIENS  (HUMAN),                   CGGGACC                           357 aa.                   GGTTGCCAT                   CAACGGATG       210   cg43916630   350   CCGGATCCC   C   gap   Pro   Pro (313)   FRAMESHIFT   UNCLASSIFIED   Human Gene SPTREMBL-ACC: Q12796   2.30E−172    6                   GGACCCCCG                           B4-2 PROTEIN -  HOMO SAPIENS                     GGCACTG[C/gap]                           (HUMAN), 327 aa.                   CCCCGAC                   CCTCTTCCTC                   CCTCATTT       211   cg44003630   917   CTGGAATCG   G   gap   Ala   Ala (314)   FRAMESHIFT   UNCLASSIFIED   Human Gene TREMBLNEW-   5.10E−164                   GTGGCACCT                           ACC: BAA76796 KIAA0952 PROTEIN -                   CTGCGGG[G/                             HOMO SAPIENS  (HUMAN), 522 aa.                   gap]CGAGGC                   CCTTCCTCTT                   GGTCAGGGG       212   cg43969137   367   GTAGCCTGC   G   gap   Leu   Cys (315)   FRAMESHIFT   UNCLASSIFIED   Human Gene Homologous to   3.60E−105   17                   CCTGGCCTA                           SPTREMBL-ACC: O08973                   GGCCGCA[G/                           HYPOTHETICAL 33.5 KD PROTEIN -                   gap]GAGAGC                             MUS MUSCULUS  (MOUSE), 300 aa.                   CTGCTGTTTT                   TCAGAACTG       213   cg29351765   81   AACCAGTTTT   C   gap   Ala   Ala (316)   FRAMESHIFT   UNCLASSIFIED   Human Gene Homologous to   6.60E−102                   GGCATGTAG                           SWISSPROT-ACC: P36137                   GCGGTG[C/gap]                           HYPOTHETICAL 51.0 KD PROTEIN IN                   CACGCAAA                           GAP1-NAP1 INTERGENIC REGION -                   TTAGGAATAT                             Saccharomyces cerevisiae  (Baker&#39;s                   TCAGTCG                           yeast), 443 aa.       214   cg29351765   82   ACCAGTTTTG   C   gap   Thr   Arg (317)   FRAMESHIFT   UNCLASSIFIED   Human Gene Homologous to   6.60E−102                   GCATGTAGG                           SWISSPROT-ACC: P36137                   CGGTGC[C/gap]                           HYPOTHETICAL 51.0 KD PROTEIN IN                   ACGCAAAT                           GAP1-NAP1 INTERGENIC REGION -                   TAGGAATATT                             Saccharomyces cerevisiae  (Baker&#39;s                   CAGTCGA                           yeast), 443 aa.       215   cg43946433   373   CAGCAAATAC   C   gap   Leu   End (318)   FRAMESHIFT   UNCLASSIFIED   Human Gene Similar to SWISSNEW-   2.10E−84    7                   GTAATGTACA                           ACC: P51636 CAVEOLIN-2 -  Homo                     AGTTC[C/gap]                             sapiens  (Human), 162 aa.                   TGACGGTGTT                   CCTGGCCATT                   CCCCT       216   cg38067019   425   ACCCCAACC   G   gap   Pro   Arg (319)   FRAMESHIFT   UNCLASSIFIED   Human Gene Similar to SWISSPROT-   1.10E−78                   TGCCACCCTT                           ACC: P02770 SERUM ALBUMIN                   CCAGAG[G/gap]                           PRECURSOR -  Rattus norvegicus                     CCGGAGGC                           (Rat), 608 aa.                   TGAGGCCAT                   GTGCAC       217   cg44010741   102   AACCGGTGT   G   gap   Ser   Thr (320)   FRAMESHIFT   UNCLASSIFIED   Human Gene Similar to SWISSNEW-   6.60E−65    5                   GGCGAGGCG                           ACC: O75380 NADH-UBIQUINONE                   GCGCGGA[G/                           OXIDOREDUCTASE 13 KD-A                   gap]CCTGCC                           SUBUNIT PRECURSOR (EC 1.6.5.3)                   CCTGGGCGC                           (EC 1.6.99.3) (COMPLEX I-13KD-A) (Cl-                   CAGGTGTTTC                           13KD-A) -  Homo sapiens  (Human), 124                                               aa.                  
 
     [0211] 
    
     
       
         1 
         
           
             320  
           
           
             1  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            1 

ggaggctgca ggcacagagg aacgagctaa atgctaaagt tcgcctattg c              51 

 
           
             2  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            2 

tgtctctagg ggacaatttt tactttactg gtgtgcaaga catcaatgac a              51 

 
           
             3  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            3 

tggaaaacca ttgcagagtg aatgggggct attcaggcct aagggatgtt t              51 

 
           
             4  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            4 

taaatgaatc cagaaaggaa gcttcgtcat tcctcagtgg gcatctttat t              51 

 
           
             5  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            5 

ggcatcagcg ctggtgtgga ggaggttcct ggttccaccc acggcttctc a              51 

 
           
             6  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            6 

ttggaaatga ccaggccaag actcaggcct ccccagttct actgaccttt g              51 

 
           
             7  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            7 

caaaagtcac catccaccag ctgaaaattt tacatgcaga taccagatac c              51 

 
           
             8  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            8 

ggagagacgg agttggcagt gaagggcgca gaggcaaaaa aggagaaaga g              51 

 
           
             9  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            9 

aactcctgac ctcaggtaat ccgcccgcct tggcctccca aagtgctggg a              51 

 
           
             10  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            10 

tcccagcact ttgggaggcc gaggcaggtg gatcacccga ggtcaggagt t              51 

 
           
             11  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            11 

gagggcacgg tctgagtgtt gctttaggta cgcttgacaa ctctcgtgtc t              51 

 
           
             12  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            12 

tgagtgttgc tttgggtacg cttgataact ctcgtgtctc gattgctgct c              51 

 
           
             13  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            13 

ctgctcaagc agtgggaatt gcccaaggag ctttagacat tgccacggat t              51 

 
           
             14  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            14 

agcgcaagca gtttggccag ccactgtcca attttgaggg aatccaattc a              51 

 
           
             15  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            15 

cactatccaa ttttgaggga atccagttca tgctcgcaga catggcaatg c              51 

 
           
             16  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            16 

tgcgtttgga ggcggcgcga gcgcttacat actctgcagc tgatcgtagt g              51 

 
           
             17  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            17 

gtaggagtgg gctggaccgg acgccggaga caaaggctcc caaggcaaga g              51 

 
           
             18  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            18 

gctgtaaaac gtcccggagt ttcctaatga gtgcgctctc ctgcagcagc t              51 

 
           
             19  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            19 

ggctcaaggg caagatcagc gaggcggaca agaagaaggt gctggacaag t              51 

 
           
             20  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            20 

tcagcgaggc cgacaagaag aaggttctgg acaagtgtca agaggtcatc t              51 

 
           
             21  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            21 

attttacatc tttggcataa gcccgggtga gatgaggagc cagtaccctg g              51 

 
           
             22  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            22 

tgtgtgtcaa accccagggg aaaaaaggga caggcagatc gaattctgtc t              51 

 
           
             23  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            23 

acgcagagca gcaaggctga gcatggccac tggaaataaa taaacatggt g              51 

 
           
             24  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            24 

aggaatacat ggaagtccgg gagaggatac acagagccat caacgacaac a              51 

 
           
             25  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            25 

caggagacgc agcgtggagc ctaccacccg acattcacgc ttcgccccac g              51 

 
           
             26  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            26 

gaagatggag gcaaatgccc tggggagtgg tcaggacatg tctcagaggc c              51 

 
           
             27  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            27 

ctgggcacgg ctccgggtgg cctcgcttcg gcggggctcg ggcgcacgtc t              51 

 
           
             28  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            28 

gctgcctggg cttcatagca ttcgcgtact ccgtgaagtc tagggacagg a              51 

 
           
             29  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            29 

cagaagactg attatcattt tagtccgaga aacatcaggc ttcagctggc t              51 

 
           
             30  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            30 

agctgctcag ctcccctgaa cccctgtcct ggccggtcag gctccacctg g              51 

 
           
             31  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            31 

tcccagcact ttgggaggcc aaggcaggca gatcacctga ggtcaggagt t              51 

 
           
             32  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            32 

tgaggtcagg agttcgagac catcccggcc aatatggtga aaccccgtct c              51 

 
           
             33  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            33 

tggcgtagag gcgggaaatg gggagtccat acccaaagcc agccagcggg g              51 

 
           
             34  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            34 

gtggagtaca tgtagctgaa gagcctctca atcttcctca agggaacacc c              51 

 
           
             35  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            35 

agtacatgta gctgaagagc cgctcgatct tcctcaaggg aacaccccca c              51 

 
           
             36  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            36 

agagccgctc aatcttcctc aaggggacac ccccacctcg gtcactcatc t              51 

 
           
             37  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            37 

caatcttcct caagggaaca cccccgcctc ggtcactcat cttgatggac a              51 

 
           
             38  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            38 

gctgctgctg ctgctgctgc tgctgcgggg ggatcacaga ccatttcttt c              51 

 
           
             39  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            39 

gctgctgctg ctgctgctgc tgctgcgggg ggatcacaga ccatttcttt c              51 

 
           
             40  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            40 

acacttacgt gtaaaagtgt cattacaatt ttaaagtaat tatttatatt c              51 

 
           
             41  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            41 

cgggagagtc ccaggcgcct ttaccgaggt tcattttcag tttaggccaa a              51 

 
           
             42  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            42 

tgcccagcaa caccctgccc acctatgagc agctgaccgt gcccaggagg g              51 

 
           
             43  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            43 

tgtctgtgaa gggaagtagc aggtgtgtca ctgttcttaa tggagcggac a              51 

 
           
             44  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            44 

ccttacaatc gtatacaaca ttcacgtggc aatattagac agttaagcac c              51 

 
           
             45  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            45 

tggcacctgc attgtcaaac tctccacaat aattgggcgc agaaaacaga g              51 

 
           
             46  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            46 

gcaccatcag ttaccttcat gactcggagc tcccctgcca gctggtgcag a              51 

 
           
             47  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            47 

tcggcttcgg gtggcctctg acagcgcagt tgagggctgc cgagtaccca g              51 

 
           
             48  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            48 

gagtggagga ccaagtgaat gtgcgaaaag aggagctggg ggagctgttt g              51 

 
           
             49  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            49 

taacgcaaag acactaaaat gatccagtca tgcaatgttc atcttatgca t              51 

 
           
             50  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            50 

agtacaccta ttaagtacca cgggtgattt agaaaaacag aaaaaaaata t              51 

 
           
             51  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            51 

tgccattgcc ctccttgtca aagacccgca ggccctccac gaagtcctca t              51 

 
           
             52  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            52 

cagcctcgtt aggacaaggc tgtgcaggct gggaggctcg gggctcccca                50 

 
           
             53  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            53 

agatatcttc tctgtcattg acaaatgaca tgttggtttg gcccagacca a              51 

 
           
             54  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            54 

cctgggaacg cctggcgcgc cgcacacttc tgggtgcccc gcggccgccg c              51 

 
           
             55  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            55 

gggaaattga gggctttcgc cttagtgccc actgctcctg tgacagcagg g              51 

 
           
             56  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            56 

gccattgctt ggcattgaat ttgtgttgat tccatggcga cctgaaggaa a              51 

 
           
             57  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            57 

agagccgccg ctgcacttcc gccacagtga ccttgtactt cgaggtggag c              51 

 
           
             58  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            58 

tgctgctgct gttgcagggc tagctacatg gcccatatgc tcagtggccg c              51 

 
           
             59  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            59 

gtttaaacaa tacagcaatt tacagattat ggaaggtttt tgatatggat t              51 

 
           
             60  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            60 

gctgccaagc ctggtgctgg cccggttggt gtttgtgcca ctgctgctgc t              51 

 
           
             61  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            61 

agaaggcggt ggaggaggag ctggatgcag aggaccggcc ggcctggaac a              51 

 
           
             62  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            62 

cgatgaggtc attgttcatg tagccggggt agcgcagggt ggtggtgctg g              51 

 
           
             63  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            63 

aaggcctaag taatttggct gaggtacata atatccaaaa tgagctggat a              51 

 
           
             64  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            64 

ggatgttgaa ggaaatacgt tatgcctcag gagctagttg cctagcaaca c              51 

 
           
             65  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            65 

ggaatctgag tatcatgtgc aaggcccaag atgacgctta ggacagaaca t              51 

 
           
             66  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            66 

gaaccaagtt tgcatttttg agggcctgag atgaagggaa gactcttacc a              51 

 
           
             67  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            67 

gaagagccag gactggccaa gggccaggcc gtcagctcct ccacagtgag                50 

 
           
             68  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            68 

atcagcagag cgccctcagg tggagtgagt ttaatggcgg agcagctcac                50 

 
           
             69  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            69 

aagaaggcga tccgggggaa ccgcaagtcc tggtgggcca tgaacacgcg c              51 

 
           
             70  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            70 

gtgaccagag catgtgccca gcccccccac caccaggggc actgccgtca t              51 

 
           
             71  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            71 

atgtgcccag cccctccacc accagaggca ctgccgtcat ggcaggggac a              51 

 
           
             72  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            72 

cctgggcgat atagtgaggc cccatttcaa aaaaaaaaaa aagcgggtgg g              51 

 
           
             73  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            73 

ttaacaggta gtactttttt tctaaggaga aagtgatgaa aaatccaaaa t              51 

 
           
             74  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            74 

atgaggccgc ccgccggagc tgcccaggag ccgccgctcg gaacatggtc t              51 

 
           
             75  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            75 

aggccgcccg ccggagctgc cccggcgccg ccgctcggaa catggtctcc g              51 

 
           
             76  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            76 

aggatgtccg aagccatgtc catcaagtca atacctgcag tgaacatttt t              51 

 
           
             77  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            77 

ctgggtagcc acctgagaat cgccataggt gcactgcctg gtcctgctcc c              51 

 
           
             78  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            78 

agccacctga gaatcgccac aggtgtactg cctggtcctg ctccccatac c              51 

 
           
             79  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            79 

ggtgcactgc ctggtcctgc tccccgtacc acgtgttcca gttgcccacg a              51 

 
           
             80  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            80 

agcatgggta gtcctcatcc aggtgcagct tgggcagcac agcctccgtg a              51 

 
           
             81  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            81 

ggctgttgta ggcatccagg tattcgggct ttacattgtg aaactggatc t              51 

 
           
             82  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            82 

aggcatccag gtattcaggc tttacgttgt gaaactggat cttatagagg t              51 

 
           
             83  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            83 

tcatggttcc tggtcggagt tggtaggacc tgagttcata tatattaggt c              51 

 
           
             84  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            84 

tgtaatccca gcactttggg aggccgaggc aggtggatca cttgaggtca a              51 

 
           
             85  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            85 

agccgcgcca ggtacgtcca gtgtgtccga gccgcgggcg tcccctgccg c              51 

 
           
             86  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            86 

accacctctc tcaaccaacc tgcatttaga aagtgaattg gatgcattgg c              51 

 
           
             87  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            87 

cgctcagcag tcctgcgttg gggtctgcgc cctaggatgc actgagatgg t              51 

 
           
             88  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            88 

agactcgcca agtaaggctt cgtgcgtagt gtcttcatgt cgcgtatagt t              51 

 
           
             89  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            89 

agaaggtccg gagatgggag aagcgctggg tgactgtggg cgacacttcc c              51 

 
           
             90  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            90 

cccttcgtat cttcaagtgg gtgcctgtgg tggatcccca ggaggaggag c              51 

 
           
             91  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            91 

agttgaagcc aaagcccttt ggtgattcac tgagtaccat ggttctgttc t              51 

 
           
             92  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            92 

atgtggcctg cagtatggcc cacagtttct cctggaggct gccattccgg a              51 

 
           
             93  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            93 

tgccgtcggt gccggccgct cgcggcctgc tcgagacgcc attgtgcctg                50 

 
           
             94  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            94 

gaccggtatg aggcggaata tatgcatcac cttcaccaat aaattcatta g              51 

 
           
             95  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            95 

gttgcccagc tctttccagc agcgcttgtc ctacaccacg ctcagcgacc t              51 

 
           
             96  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            96 

aattctcccc caagaaaaac tgttcagttt ggtggaactg tgacagaagt c              51 

 
           
             97  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            97 

acagaagtct tgctgaagta caaaacgggt gaaacaaatg actttgagtt g              51 

 
           
             98  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            98 

tagaggtgga tcaggcccca gaggataaca ctgccatctt attcagaatg a              51 

 
           
             99  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            99 

aggaaagcct gcaagaaacc aaagctagag atctggaaat acaacaggaa c              51 

 
           
             100  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            100 

gctctgggga tgatgactcc tttcctgatg atgaactgga tgacctctac t              51 

 
           
             101  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            101 

tattgcaagt ggattgatca aatccgacca agctaaagta atcagtaacc t              51 

 
           
             102  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            102 

ttttagaagt atgcattttt ttttttcttt cgactactta ccttcccttg c              51 

 
           
             103  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            103 

ttggcgtcaa ccttggccat gtcggttttc tggctgagct ggagcgctcc g              51 

 
           
             104  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            104 

acgagttgcc ggtgcaacgc tggagttgcg acgggatcct ggtctcgacc c              51 

 
           
             105  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            105 

cggtgcaacg ctggagctgc gacggcatcc tggtctcgac cccgaccgga t              51 

 
           
             106  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            106 

gcccggtcat gtggcccgat ctcgatgcca tgctcatggt gccgttgagc g              51 

 
           
             107  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            107 

agctttaagc cggaaggcag aagggggtgt gtctgaatgt taatgttttc a              51 

 
           
             108  
             46  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            108 

gcacgtgccc ccctgggcac tgggcgaaga cgtctgtgaa ggtacc                    46 

 
           
             109  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            109 

gcacgcgtag tgtcacttaa agcaaggctt catgaaaata taatacactt c              51 

 
           
             110  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            110 

catcattggc ttccaaaaaa ctgacgctaa aggaatttcc aatcaaaaca c              51 

 
           
             111  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            111 

gcaggtagca gtagtgtgtg ctgctgttgt ggaatatacg tgtgtagagt t              51 

 
           
             112  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            112 

agagttcgag gttgaggtct aagaaagtgt acgtgctgta gtcatgatgc t              51 

 
           
             113  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            113 

cagccaaagg aaacacactt gagaggcagg agaccctcac tgacgtgaga t              51 

 
           
             114  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            114 

gtcagactca ggggctgagt aacagaagag cagagagtgc agaagtggac g              51 

 
           
             115  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            115 

ggggacaaag ggacttgatt tctcaaatcg tattggaaaa accaagagga c              51 

 
           
             116  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            116 

tggtggtcat ggggacatgc atggagtcat tggaccttct cataatggag c              51 

 
           
             117  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            117 

cccaacgggg aggccaacgt gaagagggaa attcaactac tgaggaggtt a              51 

 
           
             118  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            118 

tcggaggtac gccaagcccc ggagacccgc gatgctgact ttccccagga t              51 

 
           
             119  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            119 

ttcgggattt gcgacgctgt cacagcttcc agggtatacc ccgcgaatga a              51 

 
           
             120  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            120 

agtatgtatt cctggaacaa aactgtagag aaaagtgatt ttgaagctgt a              51 

 
           
             121  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            121 

ccaccaggat ctcatagatc agaacgtcct ggagcctgta accggtgcac a              51 

 
           
             122  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            122 

tagcccctcc tctgcaggac agttggtcct tcctgagtgc atgaagctac t              51 

 
           
             123  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            123 

gctgactttt ttgtgagatt cgttgttcgt atgttgaatg acttgacttt c              51 

 
           
             124  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            124 

aggatggtga tggtgtgggt atggagcgct gccctgactg agaaaggcac g              51 

 
           
             125  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            125 

gctgcattaa ccagcatgag aggaatataa atcctgtgca ggtaccgcat g              51 

 
           
             126  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            126 

ggcttcatca ccaggcctcc tcacaaattc ctgtcccttc tgtgtcctgg a              51 

 
           
             127  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            127 

atcatcatga ttctgggctt cctggcatgc tgcggtgcta taaaagaaag t              51 

 
           
             128  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            128 

ctcatctgag caattgatct gttaatcaaa tcggctttcc tctgattata g              51 

 
           
             129  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            129 

tgctaggaat cttatgaaca gagctgttag tacgttgccc agagtagaca a              51 

 
           
             130  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            130 

tcagctttat caccttcgcg tagaattact tgttctaatt cttgggagta t              51 

 
           
             131  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            131 

tgaataagtg tctcatccag atccaccacc aggatcttcc tcttcacctg g              51 

 
           
             132  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            132 

gatgccccct gaaggtggct cagggactgg gggaggctcc cctggggctt c              51 

 
           
             133  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            133 

cataaatgtc acttgacctt gctctgccat aagaactaaa ccagcatcac c              51 

 
           
             134  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            134 

gacaagaggt tccaggagac ctttggggac gtattctctg accgctccct t              51 

 
           
             135  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            135 

gaagttatgg agacttacat gtatacgtgg agactgactc atgatccaaa g              51 

 
           
             136  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            136 

tctcacacaa gtttatacat ctatacgtgg ccagcagaaa aggagaatga c              51 

 
           
             137  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            137 

tttggctggg tccgccagat attgcggaag aaggtgtcgg tcgtgagtgt g              51 

 
           
             138  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            138 

cggacacgtg tatttgaact ctttcccctg catcgcgctg tccaggtagc g              51 

 
           
             139  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            139 

taccaggacc ctgaagctcc ttggggtagt gatgacccct gttccctgcc a              51 

 
           
             140  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            140 

gtgcaacttc tctgacaagg aagtcaaaga ctgtgttacc aacagaccat g              51 

 
           
             141  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            141 

agagaacttt ccaggtgttt catggtactc ccttccggat gagctgctct t              51 

 
           
             142  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            142 

gaagacctgt tgcggaaggt tcgcgacaag gagaccagga agcgagcact c              51 

 
           
             143  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            143 

ctatgggagt cgtcagatta tactgaagaa agaggaaaca gaagagctaa a              51 

 
           
             144  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            144 

cgagaacacc ttccttagac tcaccaccat ggcaacacac tctgaatcca a              51 

 
           
             145  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            145 

caggccctgc ccggcttgca cttcatgccc ggccgcgggc ctatccaccg g              51 

 
           
             146  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            146 

cacgcccggc cgcgggccta tccactggga ccaggtgaac tgctcggggg c              51 

 
           
             147  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            147 

tactccaaag gaaaaaccag aagctagaac ctattcagtt aataatggca a              51 

 
           
             148  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            148 

caggccctgc ccggcttgca cttcatgccc ggccgcgggc ctatccaccg g              51 

 
           
             149  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            149 

gcgccccaca accctgctcc cccgatgtcc accgtgatcc acatccgcag c              51 

 
           
             150  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            150 

gacccctctg ttcaaattga acaaggtaaa ccatatgcag agttatggat g              51 

 
           
             151  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            151 

aacggggagg ccaacgtgaa gaagggaatt caactactga ggaggttacg g              51 

 
           
             152  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            152 

tgtaggggcg gatttcctgt tcttgttcac agatgtggac tgcctatata c              51 

 
           
             153  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            153 

gagcccacac ctgcactcca tgcttgcaga aggcctgaag ctgacctcca a              51 

 
           
             154  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            154 

agaaagtatg agcgaaaacg tgaagggcga gagatcaaag aaagaataga a              51 

 
           
             155  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            155 

acagcgggag ggaaaactga tgatatcaga cacatacatt aatgaatatg a              51 

 
           
             156  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            156 

taatgaatat gaagctgcag ttttaacatt tcaattccaa agggtatttt g              51 

 
           
             157  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            157 

cctacctgaa gaaagcgcct cgccaacaag gtgcatgatc gtccaccagg g              51 

 
           
             158  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            158 

ggaggtggag ctgtccttcc gcaagcgaga gcacatctgc ctgatccgca a              51 

 
           
             159  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            159 

acagcatttt ccatattccc attgaaatag tttgcacaac gtctccaagt t              51 

 
           
             160  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            160 

accgaggagc aggaatatga ggaggggcag ccggaagagg aggctgcgga g              51 

 
           
             161  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            161 

atttatattc tgggctcctg aaagttcacc tttaaaaagc aagatgattt a              51 

 
           
             162  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            162 

gagaaaagtg attttgaagc tgtagtagca cttatgtcaa tgagctgcag t              51 

 
           
             163  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            163 

gtgtttgtag tcagcctccc actaagcatc atggccatcg ttgtgttcat c              51 

 
           
             164  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            164 

ggtgcagtac ttgaagtact tgaagtagga tagagataaa tagactcatc t              51 

 
           
             165  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            165 

cgaactgctg ctgctactgt tgctgttgct gctgctgctg ctgctgctgc t              51 

 
           
             166  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            166 

atggaaagct tgaaaaccat tgatataaaa actttttaca agacagctga t              51 

 
           
             167  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            167 

cttgtatcca cagttgatgg tgatccctat cctcctgtgg aggagccagt t              51 

 
           
             168  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            168 

ggtggtattg aaactgctct ttctattgga tgacagtttc gagtggtctt t              51 

 
           
             169  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            169 

aagagggccc aagcccgggc cgcggcgctg ggctccatct tcctcctcct g              51 

 
           
             170  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            170 

actctttgtc cactttcagg aatgatatgt tcttgctaat atcatccttg g              51 

 
           
             171  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            171 

agcttcctct cctttcttgg ccttttccca ctttgaatcc aaaagacagt c              51 

 
           
             172  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            172 

ggagagacat cgtcagctac gtcatggacc acttcgacat tgagatcatg g              51 

 
           
             173  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            173 

ctattccacg tgccagggta ggaggaagga taggacgggt agtaccacga g              51 

 
           
             174  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            174 

ctcggccggg gctgtcgtag ctcattccac ttcagggact atttcctctg c              51 

 
           
             175  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            175 

caccgcaccc tggtctatgg aggaaccttc ctgtacccag ccaaccagaa g              51 

 
           
             176  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            176 

acacttctag cccaccctgt gaccccgggg gagcaacagt ggaaaagcga g              51 

 
           
             177  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            177 

gggctgcagg atgtccgaag ccatgcccat caggtcaata cctgcagtga a              51 

 
           
             178  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            178 

cggctggcct accagaaaag gaaggggagc atgcccagga aagccaggcg c              51 

 
           
             179  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            179 

aaggggccgg tgaccttcag ggacctgctg ctgaagcagt cctcggacag c              51 

 
           
             180  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            180 

ggaactcgac tcagacgtgg ataaatataa tcccgctctg aatgcccagg c              51 

 
           
             181  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            181 

ggaggtgaag aagaataaaa gagaatgaaa ggaagaacgg cagaagaaaa g              51 

 
           
             182  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            182 

gcaaaacgaa gacccaatca cttggaaaga atggtgtgtc agagaagctt t              51 

 
           
             183  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            183 

agcatccctg gcagctccag cctgctcatc attttcaaat tcaacaaaag c              51 

 
           
             184  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            184 

cacggctctg cccaggttaa gggccccggc aagaaggtgg ccgacgcgct g              51 

 
           
             185  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            185 

gccacctccg tgtcggagcg cagccagggc gcgcccgtgt ggcgcgagga g              51 

 
           
             186  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            186 

gtgttcttcc cccaaggccc agaagagcaa tcctgaaggg ttgcttctcg t              51 

 
           
             187  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            187 

cgtgcttaaa accaccgtca ccgagtattc cggacaacac cgttggagtt c              51 

 
           
             188  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            188 

acagtcacac tcacttgtgg cttgaactct ggctcagtct ctactagtca c              51 

 
           
             189  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            189 

ttggttgtgc cttttgaatt tgacaatgtg ctacggccag atagatgagt a              51 

 
           
             190  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            190 

tggagttatt ttccaactat atgctactaa tgaaaatacg gagaagctct a              51 

 
           
             191  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            191 

aacgctggac acactgtcgt cgtcggtgac gagaagttct tcatgcacct g              51 

 
           
             192  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            192 

tgacgtgctg gccgatgaga tcgacacctt gcgcggccgc ggcgtagaca t              51 

 
           
             193  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            193 

ccatcttgga tgggtacgat gcgttacaat cgatcctgtt gacaacgaat g              51 

 
           
             194  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            194 

cgttgcaatc gatcctgttg acaacaaatg gttcatcacc ggaagtaatg a              51 

 
           
             195  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            195 

tctacatccc aggctgccca cctacgccga ggccctgctc tacggcatcc                50 

 
           
             196  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            196 

ctacatccca ggctgcccac ctacgccgag gccctgctct acggcatcct                50 

 
           
             197  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            197 

acatgtggga ctctgtgctg ccccccagaa aatatcctgt ctgcctatca g              51 

 
           
             198  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            198 

cgatcatgaa ctcaaacagc aggcaggtcc ccatccactc agacaccagc                50 

 
           
             199  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            199 

tccatgggca gcggcgccga ctgcgcccgc tctcggtcgc cttcatctcc                50 

 
           
             200  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            200 

ctttctgtcg ggatgtcaca caacggcgat tcgttttgga cgaatgccaa g              51 

 
           
             201  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            201 

ctttctgtcg ggatgtcaca caacggcgat tcgttttgga cgaatgccaa g              51 

 
           
             202  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            202 

ggagagccgt aggtgtaggc tggccccttc atccacccca taggggtaag g              51 

 
           
             203  
             51  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            203 

aggaagtgct gaaggcaatc tccaggaagt tcatgcctct ggaccagtgg c              51 

 
           
             204  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            204 

ctttggagag agaggtggac ttgcctgcgg cgaggggagg acaccagtgg                50 

 
           
             205  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            205 

ggccaagggg atgtgccgca tgcggcagcc accaatgcac tcatgtcctt                50 

 
           
             206  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            206 

gatggggcct gatccttgcc cgaagcagct ctgcccagag cctgggtggc                50 

 
           
             207  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            207 

ggcagcacaa tctcatggga ccgcagattc gtttggagcc ctgcatcttg                50 

 
           
             208  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            208 

gcagcacaat ctcatgggac cgcagattcg tttggagccc tgcatcttga                50 

 
           
             209  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            209 

cgctgctctg ggacagggtg cgagacggga ccggttgcca tcaacggatg                50 

 
           
             210  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            210 

ccggatcccg gacccccggg cactgccccg accctcttcc tccctcattt                50 

 
           
             211  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            211 

ctggaatcgg tggcacctct gcgggcgagg cccttcctct tggtcagggg                50 

 
           
             212  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            212 

gtagcctgcc ctggcctagg ccgcagagag cctgctgttt ttcagaactg                50 

 
           
             213  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            213 

aaccagtttt ggcatgtagg cggtgcacgc aaattaggaa tattcagtcg                50 

 
           
             214  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            214 

accagttttg gcatgtaggc ggtgcacgca aattaggaat attcagtcga                50 

 
           
             215  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            215 

cagcaaatac gtaatgtaca agttctgacg gtgttcctgg ccattcccct                50 

 
           
             216  
             48  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            216 

accccaacct gccacccttc cagagccgga ggctgaggcc atgtgcac                  48 

 
           
             217  
             50  
             DNA  
             Homo sapiens  
             
               allele  
               (26)...(0)  
               single nucleotide polymorphism  
             
           
            217 

aaccggtgtg gcgaggcggc gcggacctgc ccctgggcgc caggtgtttc                50 

 
           
             218  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            218 

Lys Gly Leu Asp Phe Ser Asn Arg Ile Gly Lys Thr Lys Arg 
 1               5                  10 

 
           
             219  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            219 

His Gly Asp Met His Gly Val Ile Gly Pro Ser His Asn Gly 
 1               5                  10 

 
           
             220  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            220 

Gly Glu Ala Asn Val Lys Arg Glu Ile Gln Leu Leu Arg Arg 
 1               5                  10 

 
           
             221  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            221 

Gly Lys Val Ser Ile Ala Gly Leu Arg Gly Leu Ala Tyr Leu 
 1               5                  10 

 
           
             222  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            222 

Ile Cys Asp Ala Val Thr Ala Ser Arg Val Tyr Pro Ala Asn 
 1               5                  10 

 
           
             223  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            223 

Tyr Ser Trp Asn Lys Thr Val Glu Lys Ser Asp Phe Glu Ala 
 1               5                  10 

 
           
             224  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            224 

Gly Ser His Arg Ser Glu Arg Pro Gly Ala Cys Asn Arg Cys 
 1               5                  10 

 
           
             225  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            225 

Ser Ser Ala Gly Gln Leu Val Leu Pro Glu Cys Met Lys Leu 
 1               5                  10 

 
           
             226  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            226 

Phe Phe Val Arg Phe Val Val Arg Met Leu Asn Asp Leu Thr 
 1               5                  10 

 
           
             227  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            227 

Phe Leu Ser Gln Gly Ser Ala Pro Tyr Pro His His His His 
 1               5                  10 

 
           
             228  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            228 

Tyr Leu His Arg Ile Tyr Ile Pro Leu Met Leu Val Asn Ala 
 1               5                  10 

 
           
             229  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            229 

Ile Thr Arg Pro Pro His Lys Phe Leu Ser Leu Leu Cys Pro 
 1               5                  10 

 
           
             230  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            230 

Met Ile Leu Gly Phe Leu Ala Cys Cys Gly Ala Ile Lys Glu 
 1               5                  10 

 
           
             231  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            231 

Gln Arg Lys Ala Asp Leu Ile Asn Arg Ser Ile Ala Gln Met 
 1               5                  10 

 
           
             232  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            232 

Asn Leu Met Asn Arg Ala Val Ser Thr Leu Pro Arg Val Asp 
 1               5                  10 

 
           
             233  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            233 

Gln Glu Leu Glu Gln Val Ile Leu Arg Glu Gly Asp Lys Ala 
 1               5                  10 

 
           
             234  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            234 

Lys Arg Lys Ile Leu Val Val Asp Leu Asp Glu Thr Leu Ile 
 1               5                  10 

 
           
             235  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            235 

Pro Gly Glu Pro Pro Pro Val Pro Glu Pro Pro Ser Gly Gly 
 1               5                  10 

 
           
             236  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            236 

Ala Gly Leu Val Leu Met Ala Glu Gln Gly Gln Val Thr Phe 
 1               5                  10 

 
           
             237  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            237 

Arg Phe Gln Glu Thr Phe Gly Asp Val Phe Ser Asp Arg Ser 
 1               5                  10 

 
           
             238  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            238 

Met Glu Thr Tyr Met Tyr Thr Trp Arg Leu Thr His Asp Pro 
 1               5                  10 

 
           
             239  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            239 

Thr Ser Leu Tyr Ile Tyr Thr Trp Pro Ala Glu Lys Glu Asn 
 1               5                  10 

 
           
             240  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            240 

Trp Val Arg Gln Ile Leu Arg Lys Lys Val Ser Val Val Ser 
 1               5                  10 

 
           
             241  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            241 

Leu Asp Ser Ala Met Gln Gly Lys Glu Phe Lys Tyr Thr Cys 
 1               5                  10 

 
           
             242  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            242 

Asp Pro Glu Ala Pro Trp Gly Ser Asp Asp Pro Cys Ser Leu 
 1               5                  10 

 
           
             243  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            243 

Phe Ser Asp Lys Glu Val Lys Asp Cys Val Thr Asn Arg Pro 
 1               5                  10 

 
           
             244  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            244 

Phe Pro Gly Val Ser Trp Tyr Ser Leu Pro Asp Glu Leu Leu 
 1               5                  10 

 
           
             245  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            245 

Leu Leu Arg Lys Val Arg Asp Lys Glu Thr Arg Lys Arg Ala 
 1               5                  10 

 
           
             246  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            246 

Ser Arg Gln Ile Ile Leu Lys Lys Glu Glu Thr Glu Glu Leu 
 1               5                  10 

 
           
             247  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            247 

Thr Phe Leu Arg Leu Thr Thr Met Ala Thr His Ser Glu Ser 
 1               5                  10 

 
           
             248  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            248 

Leu Pro Gly Leu His Phe Met Pro Gly Arg Gly Pro Ile His 
 1               5                  10 

 
           
             249  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            249 

Gly Arg Gly Pro Ile His Trp Asp Gln Val Asn Cys Ser Gly 
 1               5                  10 

 
           
             250  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            250 

Lys Glu Lys Pro Glu Ala Arg Thr Tyr Ser Val Asn Asn Gly 
 1               5                  10 

 
           
             251  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            251 

Leu Pro Gly Leu His Phe Met Pro Gly Arg Gly Pro Ile His 
 1               5                  10 

 
           
             252  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            252 

His Asn Pro Ala Pro Pro Met Ser Thr Val Ile His Ile Arg 
 1               5                  10 

 
           
             253  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            253 

Ser Val Gln Ile Glu Gln Gly Lys Pro Tyr Ala Glu Leu Trp 
 1               5                  10 

 
           
             254  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            254 

Glu Ala Asn Val Lys Lys Gly Ile Gln Leu Leu Arg Arg Leu 
 1               5                  10 

 
           
             255  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            255 

Ala Asp Phe Leu Phe Leu Phe Thr Asp Val Asp Cys Leu Tyr 
 1               5                  10 

 
           
             256  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            256 

Gly Gln Leu Gln Ala Phe Cys Lys His Gly Val Gln Val Trp 
 1               5                  10 

 
           
             257  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            257 

Tyr Glu Arg Lys Arg Glu Gly Arg Glu Ile Lys Glu Arg Ile 
 1               5                  10 

 
           
             258  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            258 

Glu Gly Lys Leu Met Ile Ser Asp Thr Tyr Ile Asn Glu Tyr 
 1               5                  10 

 
           
             259  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            259 

Tyr Glu Ala Ala Val Leu Thr Phe Gln Phe Gln Arg Val Phe 
 1               5                  10 

 
           
             260  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            260 

Glu Glu Ser Ala Ser Pro Thr Arg Cys Met Ile Val His Gln 
 1               5                  10 

 
           
             261  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            261 

Glu Leu Ser Phe Arg Lys Arg Glu His Ile Cys Leu Ile Arg 
 1               5                  10 

 
           
             262  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            262 

Arg Arg Cys Ala Asn Tyr Phe Asn Gly Asn Met Glu Asn Ala 
 1               5                  10 

 
           
             263  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            263 

Glu Gln Glu Tyr Glu Glu Gly Gln Pro Glu Glu Glu Ala Ala 
 1               5                  10 

 
           
             264  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            264 

Phe Trp Ala Pro Glu Ser Ser Pro Leu Lys Ser Lys Met Ile 
 1               5                  10 

 
           
             265  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            265 

Ser Asp Phe Glu Ala Val Val Ala Leu Met Ser Met Ser Cys 
 1               5                  10 

 
           
             266  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            266 

Val Val Ser Leu Pro Leu Ser Ile Met Ala Ile Val Val Phe 
 1               5                  10 

 
           
             267  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            267 

Ser Ile Tyr Leu Tyr Pro Thr Ser Ser Thr Ser Ser Thr Ala 
 1               5                  10 

 
           
             268  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            268 

Ser Ser Ser Ser Ser Ser Asn Ser Asn Ser Ser Ser Ser Ser 
 1               5                  10 

 
           
             269  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            269 

Ser Leu Lys Thr Ile Asp Ile Lys Thr Phe Tyr Lys Thr Ala 
 1               5                  10 

 
           
             270  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            270 

Ser Thr Val Asp Gly Asp Pro Tyr Pro Pro Val Glu Glu Pro 
 1               5                  10 

 
           
             271  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            271 

Leu Lys Leu Leu Phe Leu Leu Asp Asp Ser Phe Glu Trp Ser 
 1               5                  10 

 
           
             272  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            272 

Arg Lys Met Glu Pro Ser Ala Ala Ala Arg Ala Trp Ala Leu 
 1               5                  10 

 
           
             273  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            273 

Asp Asp Ile Ser Lys Asn Ile Ser Phe Leu Lys Val Asp Lys 
 1               5                  10 

 
           
             274  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            274 

Leu Leu Asp Ser Lys Trp Glu Lys Ala Lys Lys Gly Glu Glu 
 1               5                  10 

 
           
             275  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            275 

Asp Ile Val Ser Tyr Val Met Asp His Phe Asp Ile Glu Ile 
 1               5                  10 

 
           
             276  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            276 

Tyr Tyr Pro Ser Tyr Pro Ser Ser Tyr Pro Gly Thr Trp Asn 
 1               5                  10 

 
           
             277  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            277 

Gly Ala Val Val Ala His Ser Thr Ser Gly Thr Ile Ser Ser 
 1               5                  10 

 
           
             278  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            278 

Thr Leu Val Tyr Gly Gly Thr Phe Leu Tyr Pro Ala Asn Gln 
 1               5                  10 

 
           
             279  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            279 

Leu Ala His Pro Val Thr Pro Gly Glu Gln Gln Trp Lys Ser 
 1               5                  10 

 
           
             280  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            280 

Ala Gly Ile Asp Leu Met Gly Met Ala Ser Asp Ile Leu Gln 
 1               5                  10 

 
           
             281  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            281 

Ala Tyr Gln Lys Arg Lys Gly Ser Met Pro Arg Lys Ala Arg 
 1               5                  10 

 
           
             282  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            282 

Pro Val Thr Phe Arg Asp Leu Leu Leu Lys Gln Ser Ser Asp 
 1               5                  10 

 
           
             283  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            283 

Asp Ser Asp Val Asp Lys Tyr Asn Pro Ala Leu Asn Ala Gln 
 1               5                  10 

 
           
             284  
             6  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            284 

Lys Lys Asn Lys Arg Glu 
 1               5 

 
           
             285  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            285 

Glu Asp Pro Ile Thr Trp Lys Glu Trp Cys Val Arg Glu Ala 
 1               5                  10 

 
           
             286  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            286 

Val Glu Phe Glu Asn Asp Glu Gln Ala Gly Ala Ala Arg Asp 
 1               5                  10 

 
           
             287  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            287 

Ser Ala Gln Val Lys Gly Pro Gly Lys Lys Val Ala Asp Ala 
 1               5                  10 

 
           
             288  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            288 

Ser Val Ser Glu Arg Ser Gln Gly Ala Pro Val Trp Arg Glu 
 1               5                  10 

 
           
             289  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            289 

Ala Thr Leu Gln Asp Cys Ser Ser Gly Pro Trp Gly Lys Asn 
 1               5                  10 

 
           
             290  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            290 

Lys Thr Thr Val Thr Glu Tyr Ser Gly Gln His Arg Trp Ser 
 1               5                  10 

 
           
             291  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            291 

Thr Leu Thr Cys Gly Leu Asn Ser Gly Ser Val Ser Thr Ser 
 1               5                  10 

 
           
             292  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            292 

Cys Leu Leu Asn Leu Thr Met Cys Tyr Gly Gln Ile Asp Glu 
 1               5                  10 

 
           
             293  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            293 

Ile Phe Gln Leu Tyr Ala Thr Asn Glu Asn Thr Glu Lys Leu 
 1               5                  10 

 
           
             294  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            294 

Gly His Thr Val Val Val Gly Asp Glu Lys Phe Phe Met His 
 1               5                  10 

 
           
             295  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            295 

Leu Ala Asp Glu Ile Asp Thr Leu Arg Gly Arg Gly Val Asp 
 1               5                  10 

 
           
             296  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            296 

Gly Trp Val Arg Cys Val Thr Ile Asp Pro Val Asp Asn Glu 
 1               5                  10 

 
           
             297  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            297 

Ile Asp Pro Val Asp Asn Lys Trp Phe Ile Thr Gly Ser Asn 
 1               5                  10 

 
           
             298  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            298 

Ile Pro Gly Cys Pro Pro Thr Pro Arg Pro Cys Ser Thr Ala 
 1               5                  10 

 
           
             299  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            299 

Pro Gly Cys Pro Pro Thr Pro Arg Pro Cys Ser Thr Ala Ser 
 1               5                  10 

 
           
             300  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            300 

Trp Asp Ser Val Leu Pro Pro Arg Lys Tyr Pro Val Cys Leu 
 1               5                  10 

 
           
             301  
             13  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            301 

Cys Leu Ser Gly Trp Gly Pro Ala Cys Cys Leu Ser Ser 
 1               5                  10 

 
           
             302  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            302 

Lys Ala Thr Glu Ser Gly Arg Ser Arg Arg Arg Cys Pro Trp 
 1               5                  10 

 
           
             303  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            303 

Val Gly Met Ser His Asn Gly Asp Ser Phe Trp Thr Asn Ala 
 1               5                  10 

 
           
             304  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            304 

Val Gly Met Ser His Asn Gly Asp Ser Phe Trp Thr Asn Ala 
 1               5                  10 

 
           
             305  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            305 

Pro Tyr Gly Val Asp Glu Gly Ala Ser Leu His Leu Arg Leu 
 1               5                  10 

 
           
             306  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            306 

Ser Ala Glu Gly Asn Leu Gln Glu Val His Ala Ser Gly Pro 
 1               5                  10 

 
           
             307  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            307 

Gly Val Leu Pro Ser Pro Gln Ala Ser Pro Pro Leu Ser Pro 
 1               5                  10 

 
           
             308  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            308 

Met Ser Ala Leu Val Ala Ala Ala Cys Gly Thr Ser Pro Trp 
 1               5                  10 

 
           
             309  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            309 

Gln Ala Leu Gly Arg Ala Ala Ser Gly Lys Asp Gln Ala Pro 
 1               5                  10 

 
           
             310  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            310 

Gln Gly Ser Lys Arg Ile Cys Gly Pro Met Arg Leu Cys Cys 
 1               5                  10 

 
           
             311  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            311 

Met Gln Gly Ser Lys Arg Ile Cys Gly Pro Met Arg Leu Cys 
 1               5                  10 

 
           
             312  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            312 

Val Asp Gly Asn Arg Ser Arg Leu Ala Pro Cys Pro Arg Ala 
 1               5                  10 

 
           
             313  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            313 

Pro Asp Pro Arg Ala Leu Pro Arg Pro Ser Ser Ser Leu Ile 
 1               5                  10 

 
           
             314  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            314 

Thr Lys Arg Lys Gly Leu Ala Arg Arg Gly Ala Thr Asp Ser 
 1               5                  10 

 
           
             315  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            315 

Glu Lys Gln Gln Ala Leu Cys Gly Leu Gly Gln Gly Arg Leu 
 1               5                  10 

 
           
             316  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            316 

Phe Trp His Val Gly Gly Ala Arg Lys Leu Gly Ile Phe Ser 
 1               5                  10 

 
           
             317  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            317 

Phe Trp His Val Gly Gly Ala Arg Lys Leu Gly Ile Phe Ser 
 1               5                  10 

 
           
             318  
             6  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            318 

Tyr Val Met Tyr Lys Phe 
 1               5 

 
           
             319  
             13  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (8)...(0)  
               cSNP translation  
             
           
            319 

Asn Leu Pro Pro Phe Gln Arg Arg Arg Leu Arg Pro Cys 
 1               5                  10 

 
           
             320  
             14  
             PRT  
             Homo sapiens  
             
               VARIANT  
               (7)...(0)  
               cSNP translation  
             
           
            320 

Cys Gly Glu Ala Ala Arg Thr Cys Pro Trp Ala Pro Gly Val 
 1               5                  10