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11
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1 #Chrom Position Strand Allele Codons Transcript ID Protein ID Substitution Region dbSNP ID SNP Type Prediction Score Median Info Num seqs at position Gene ID User Comment
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2 chr3 81780820 + T/C AGA-gGA ENST00000264326 ENSP00000264326 R190G EXON CDS rs2229519:C Nonsynonymous DAMAGING 0.04 3.06 149 ENSG00000114480
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3 chr2 230341630 + G/T - ENST00000389045 ENSP00000373697 NA EXON CDS rs1803846:A Unknown Not scored NA NA NA ENSG00000153827
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4 chr2 43881517 + A/T ATA-tTA ENST00000260605 ENSP00000260605 I230L EXON CDS rs11556157:T Nonsynonymous TOLERATED 0.47 3.19 7 ENSG00000138036
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5 chr2 43857514 + T/C TTT-TcT ENST00000260605 ENSP00000260605 F33S EXON CDS rs2288709:C Nonsynonymous TOLERATED 0.61 3.33 6 ENSG00000138036
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6 chr6 88375602 + G/A GTT-aTT ENST00000257789 ENSP00000257789 V217I EXON CDS rs2307389:A Nonsynonymous TOLERATED 0.75 3.17 13 ENSG00000135336
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7 chr22 29307353 + T/A ACC-tCC ENST00000335214 ENSP00000334612 T264S EXON CDS rs42942:A Nonsynonymous TOLERATED 0.4 3.14 23 ENSG00000100029
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8 chr10 115912482 + C/A CGA-CtA ENST00000369285 ENSP00000358291 R179L EXON CDS rs12782946:T Nonsynonymous TOLERATED 0.06 4.32 2 ENSG00000165813
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9 chr10 115900918 + G/A CAA-tAA ENST00000369287 ENSP00000358293 Q271* EXON CDS rs7095762:T Nonsynonymous N/A N/A N/A N/A ENSG00000165813
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10 chr16 69875502 + G/T ACA-AaA ENST00000338099 ENSP00000337512 T608K EXON CDS rs3096381:T Nonsynonymous TOLERATED 0.12 3.41 3 ENSG00000180917
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11 chr16 69876078 + T/C AAT-AgT ENST00000338099 ENSP00000337512 N416S EXON CDS rs3803704:C Nonsynonymous TOLERATED 1 3.15 26 ENSG00000180917
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12 chr16 69877147 + G/A CTT-tTT ENST00000338099 ENSP00000337512 L60F EXON CDS rs3096380:A Nonsynonymous TOLERATED 0.31 3.33 31 ENSG00000180917
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13 chr22 49000825 + T/A AGT-tGT ENST00000248846 ENSP00000248846 S1364C EXON CDS rs5771107:A Nonsynonymous TOLERATED 0.18 3.38 6 ENSG00000128159
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14 chr22 49000551 + T/G ACT-cCT ENST00000248846 ENSP00000248846 T1377P EXON CDS rs11703226:C Nonsynonymous TOLERATED 0.27 3.38 6 ENSG00000128159
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15 chr22 49006739 + A/C TTG-TgG ENST00000248846 ENSP00000248846 L567W EXON CDS rs4838865:G Nonsynonymous TOLERATED 0.16 3.15 10 ENSG00000128159
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16 chr11 17476318 + C/G GAG-GAc ENST00000005226 ENSP00000005226 E819D EXON CDS rs1064074:G Nonsynonymous TOLERATED 0.08 3.95 12 ENSG00000006611
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17 chr4 124033758 + C/A CGG-CtG ENST00000339154 ENSP00000344011 R40L EXON CDS rs1048201:T Nonsynonymous DAMAGING 0.01 3.14 20 ENSG00000170917
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18 chr3 185041096 + C/G GTG-cTG ENST00000311101 ENSP00000310676 V212L EXON CDS rs3732581:G Nonsynonymous TOLERATED 0.58 2.94 30 ENSG00000175193
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19 chr17 8101874 + C/T CCA-CtA ENST00000314666 ENSP00000313490 P367L EXON CDS rs4791641:T Nonsynonymous TOLERATED 0.11 3.02 34 ENSG00000178921
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20 chr6 33156520 + C/T GCG-GtG ENST00000308461 ENSP00000311794 A65V EXON CDS rs1042121:T Nonsynonymous TOLERATED 1 3.39 397 ENSG00000168383
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21 chr16 23556917 + T/C TAC-TgC ENST00000261584 ENSP00000261584 Y28C EXON CDS novel Nonsynonymous DAMAGING *Warning! Low confidence. 0 4.32 1 ENSG00000083093
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