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                        FUNCTIONAL CLASSIFICATIONS FOR VARIATIONS IN GENES
           WHERE VARIATION HAS FUNCTIONAL CLASS IN AT LEAST ONE TRANSCRIPT MODEL FOR THE GENE
                          HUMAN BUILD 36_1  , ASSEMBLY c5_H2        , dbSNP BUILD   126
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DEFINITIONS:
  Models in gene:    Number of transcript models (splice variants) known for the gene
    Locus region:    Variations within 3 kb 5' or 500 bp 3' of the longest aligned mRNA for gene
     5' / 3' UTR:    Variation mapped to UTR region of a trancript for the gene
          Intron:    Variation mapped to intron (but not splice site) of a transcript for the gene
     Splice site:    Variation mapped to first two, or last two bases of an intron of a transcript
   Coding region:    Variation mapped to coding region of a transcript for the gene
      Contig ref:    One allele known for variation was observed in contig reference sequence
    Synon change:    One allele for variation is different from contig, but amino acid is the same
 Nonsynon change:    One allele for variation is different from contig and encodes a different amino acid
 Align Exception:    Part of the transcript sequence was not found on contig, translation not possible

                              -------------------------------------  ---------------------------------
                              Functional Classes based on position    Coding classes based on allele
                      Models  -------------------------------------  ---------------------------------
  Gene        Locus     in    Locus   5'/3'          Splice  Coding  Contig  Synon   NonSyn  Alignment
 Symbol         ID     Gene   Region  UTRs   Intron   Site   Region    Ref   Change  Change  Exception
------------ -------  ------  ------  -----  ------  ------  ------  ------  ------  ------  ---------
BDP1           55814      2        4      0     208      0       20      19       3      17        0
BIRC1           4671      2       14     42     101      0        6       6       2       4        0
CART            9607      2       20      4       5      0        3       3       1       2        0
CDH12P          1011      1       35      0       0      0        0       0       0       0        0
CDK7            1022      2        6      2     115      0        3       3       2       1        0
GTF2H2          2966      2        9     33     117      0        7       6       4       3        0
KENAE         202243      2        5     31     112      0        5       5       0       5        0
LOC153561     153561      2        6    106    1236      0       15      15       5      10        0
LOC642008     642008      2       18    133     498      0        5       5       2       3        0
LOC642009     642009      2        4     34      12      0        3       3       2       1        0
LOC642010     642010      2        6     36       8      0       68      65      19      50        0
LOC642011     642011      2       18      0       2      0        0       0       0       0        0
LOC642012     642012      2       17      0      10      0        8       8       0       8        0
LOC642013     642013      1       46      0       0      0        0       0       0       0        0
LOC642014     642014      2        7      0      33      0        3       3       0       3        0
LOC653866     653866     24       17    146     123      0        8       8       4       4        0
LOC653867     653867      2       11      3      66      0        3       3       1       2        0
LOC653868     653868      1       92      0       0      0        0       0       0       0        0
LOC653869     653869      2        6      3       1      0        1       1       0       1        0
MARVELD2      153562      2        8     12      69      0        2       2       1       1        0
MCCC2          64087      2       13      2     190      0        3       3       2       1        0
MRPS36         92259      2        9      4      30      0        1       1       1       0        0
OCLN            4950      2        3     15      66      0        6       6       1       5        0
PMCHL2          5370      3       16     38       6      0        1       1       0       1        0
RAD17           5884      9       14     64     185      0        7       7       1       6        0
SERF1A          8293      2       32      4      38      0        0       0       0       0        0
SMA3           10571      2       34    614     699      0        4       4       2       2        0
SMA4           11039      2       10      9      14      0        0       0       0       0        0
SMA5           11042      2       42   2946     706      0        1       1       0       1        0
SMN1            6606      3        9      5      91      0        4       4       4       0        0
SMN2            6607      5        9      5      94      0        4       4       4       0        0
TAF9            6880      5        9     29      61      0        5       5       0       5        0

Report generated at Mon Apr 17 15:53:35 2006
