3 | 111795803 | 111795803 | G | T | exonic | TMPRSS7 | NA | nonsynonymous SNV | exonic | ENSG00000176040 | NA | nonsynonymous SNV | Score=525;Name=lod=181 | NA | 3q13.2 | Score=844;Name=V$FOXJ2_02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 2.235 | M | -2.48 | D | 0.750 | D | 0.819 | D | 5.143 | 32 | 6.11 | 2.906 | 8.810 | 17.651 | 5.142991 | 5.142991 | 0 | NA | NA | NA | NA | NA | 22.3333334 |
10 | 123256215 | 123256215 | T | G | exonic | FGFR2 | NA | nonsynonymous SNV | exonic | ENSG00000066468 | NA | nonsynonymous SNV | Score=355;Name=lod=37 | NA | 10q26.13 | Score=857;Name=V$OCT1_02 | NA | NA | NA | rs121918506 | NA | NA | NA | NA | NA | NA | NA | NA | 0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1.000 | A | 3.77 | H | -3.85 | D | 1.102 | D | 0.949 | D | 4.453 | 23.7 | 5.28 | 1.994 | 7.910 | 15.258 | 4.452675 | 4.452675 | 0.02 | NA | NA | NA | NA | CLINSIG=pathogenic;CLNDBN=Pfeiffer_syndrome;CLNREVSTAT=single;CLNACC=RCV000014219.24;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1455:C1863356:101600:ORPHA710 | 22.3333334 |
14 | 75472653 | 75472653 | A | G | exonic | EIF2B2 | NA | nonsynonymous SNV | exonic | ENSG00000119718 | NA | nonsynonymous SNV | Score=626;Name=lod=466 | NA | 14q24.3 | Score=827;Name=V$FOXO3_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008236 | NA | 0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 3.08 | M | -3.96 | D | 1.064 | D | 0.940 | D | 3.76 | 19.09 | 4.36 | 1.065 | 2.543 | 12.131 | 3.760111 | 3.760111 | 0 | NA | NA | NA | NA | NA | 22.3333252 |
1 | 205744020 | 205744020 | G | A | exonic | RAB7L1 | NA | nonsynonymous SNV | exonic | ENSG00000117280 | NA | nonsynonymous SNV | Score=472;Name=lod=111 | NA | 1q32.1 | NA | Name=ZBTB7A_(SC-34508) | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.0000663 | NA | 0.03 | D | 0.999 | D | 0.96 | D | 0.000 | D | 1.000 | D | 4.085 | H | -1.71 | D | 0.898 | D | 0.825 | D | 5.579 | 35 | 5.71 | 2.692 | 5.399 | 17.613 | 5.5793 | 5.5793 | 0 | NA | NA | NA | NA | NA | 22.3332671 |
12 | 121416797 | 121416797 | G | A | exonic | HNF1A | NA | nonsynonymous SNV | exonic | ENSG00000135100 | NA | nonsynonymous SNV | Score=456;Name=lod=95 | NA | 12q24.31 | Score=950;Name=V$GATA1_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.03 | D | 0.999 | D | 0.994 | D | 0.000 | D | 1.000 | D | 1.7 | L | -4.98 | D | 1.099 | D | 0.947 | D | 4.842 | 27.6 | 4.34 | 1.954 | 6.435 | 15.836 | 4.84233 | 4.84233 | 0.01 | NA | NA | NA | NA | NA | 21.3333334 |
19 | 2415775 | 2415775 | C | A | exonic | TMPRSS9 | NA | nonsynonymous SNV | exonic | ENSG00000178297 | NA | nonsynonymous SNV | Score=343;Name=lod=33 | NA | 19p13.3 | NA | Name=Pol2(phosphoS2),CCNT2 | Name=3 | NA | NA | NA | NA | NA | NA | NA | NA | 0.00004201 | NA | 0 | D | 0.993 | D | 0.936 | D | 0.000 | D | 1.000 | D | 3.42 | M | 0.12 | T | 0.164 | D | 0.457 | T | 3.381 | 17.4 | 3.8 | 1.976 | 5.665 | 14.415 | 3.38052 | 3.38052 | 0 | NA | NA | NA | NA | NA | 21.3332914 |
13 | 110855918 | 110855918 | C | G | exonic | COL4A1 | NA | nonsynonymous SNV | exonic | ENSG00000187498 | NA | nonsynonymous SNV | Score=410;Name=lod=62 | NA | 13q34 | NA | Name=ZNF263 | NA | NA | rs150182714 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.00004942 | 0.0013 | 0.04 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 3.515 | H | -4.63 | D | 1.032 | D | 0.985 | D | 2.269 | 13.54 | 4.79 | 2.376 | 5.196 | 17.816 | 2.269008 | 2.269008 | 0.09 | 0.000233 | 0 | NA | NA | NA | 21.332051 |
11 | 77553595 | 77553595 | G | C | exonic | AAMDC | NA | nonsynonymous SNV | exonic | ENSG00000087884 | NA | nonsynonymous SNV | Score=633;Name=lod=500 | NA | 11q14.1 | NA | Name=c-Jun,c-Fos | Name=47 | NA | rs138381967 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0002 | 0.0013 | 0.04 | D | 0.999 | D | 0.912 | D | 0.000 | D | 1.000 | D | 2.005 | M | 0.7 | T | 0.109 | D | 0.558 | D | 4.276 | 22.3 | 4.67 | 2.941 | 6.477 | 14.855 | 4.276383 | 4.276383 | 0.04 | 0.000466 | 0.000227 | NA | NA | NA | 21.3316674 |
7 | 47331594 | 47331594 | G | A | exonic | TNS3 | NA | nonsynonymous SNV | exonic | ENSG00000136205 | NA | nonsynonymous SNV | Score=243;Name=lod=13 | NA | 7p12.3 | Score=728;Name=V$PAX4_04 | Name=Pol2 | Name=124 | NA | rs41280696 | 0.00179712 | 0.006 | NA | 0.0043 | NA | NA | 0.0046 | 0.01 | 0.02 | D | 1.0 | D | 0.964 | D | 0.020 | N | 1.000 | D | 1.795 | L | -3.05 | D | 0.782 | D | 0.844 | D | 3.88 | 19.72 | 5.86 | 2.775 | 6.828 | 17.680 | 3.880412 | 3.880412 | 0.01 | 0.008402 | 0.00161 | NA | NA | NA | 21.3143314 |
12 | 7280850 | 7280850 | C | T | exonic | RBP5 | NA | nonsynonymous SNV | exonic | ENSG00000139194 | NA | nonsynonymous SNV | Score=391;Name=lod=52 | NA | 12p13.31 | NA | Name=Pol2,TAF1,GABP | Name=7 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.01 | D | 0.999 | D | 0.981 | D | 0.000 | D | 1.000 | D | 2.29 | M | 1.49 | T | -0.663 | T | 0.190 | T | 2.962 | 15.87 | 3.55 | 2.270 | 3.664 | 16.422 | 2.961973 | 2.961973 | 0.01 | NA | NA | NA | NA | NA | 20.3333334 |
20 | 44579206 | 44579206 | C | T | exonic | ZNF335 | NA | nonsynonymous SNV | exonic | ENSG00000198026 | NA | nonsynonymous SNV | Score=644;Name=lod=551 | NA | 20q13.12 | NA | Name=Pol2 | Name=8 | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008252 | NA | 0.01 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1.000 | D | 2.475 | M | 2.31 | T | -0.902 | T | 0.137 | T | 4.953 | 28.8 | 4.82 | 2.681 | 7.239 | 17.438 | 4.952853 | 4.952853 | 0 | NA | NA | NA | NA | NA | 20.3333251 |
6 | 35259091 | 35259091 | G | T | exonic | ZNF76 | NA | nonsynonymous SNV | exonic | ENSG00000065029 | NA | nonsynonymous SNV | Score=637;Name=lod=517 | NA | 6p21.31 | Score=878;Name=V$AREB6_01 | NA | Name=5 | NA | NA | NA | NA | NA | NA | NA | NA | 0.0000286 | NA | 0 | D | 1.0 | D | 0.992 | D | 0.001 | D | 1.000 | D | 2.51 | M | 1.9 | T | -0.866 | T | 0.151 | T | 5.209 | 33 | 5.11 | 2.816 | 9.601 | 18.069 | 5.208544 | 5.208544 | 0 | NA | NA | NA | NA | NA | 20.3333048 |
2 | 204053267 | 204053267 | G | C | exonic | NBEAL1 | NA | nonsynonymous SNV | exonic | ENSG00000144426 | NA | nonsynonymous SNV | Score=592;Name=lod=338 | NA | 2q33.2 | Score=932;Name=V$LMO2COM_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000058 | NA | 0.16 | T | 0.997 | D | 0.95 | D | 0.000 | D | 1.000 | D | 2.08 | M | -1.44 | T | 0.198 | D | 0.649 | D | 5.15 | 32 | 5.85 | 2.773 | 9.751 | 19.761 | 5.150183 | 5.150183 | 0.04 | NA | NA | NA | NA | NA | 20.3332754 |
6 | 38256069 | 38256069 | G | A | exonic | BTBD9 | NA | nonsynonymous SNV | exonic | ENSG00000183826 | NA | nonsynonymous SNV | Score=505;Name=lod=150 | NA | 6p21.2 | NA | NA | NA | NA | rs375379024 | NA | NA | NA | NA | NA | NA | 0.0001 | 0.0001 | 0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 2.68 | M | -4.91 | D | 1.105 | D | 0.960 | D | 3.745 | 19.01 | 5.31 | 1.636 | 9.323 | 15.660 | 3.744885 | 3.744885 | 0 | 0.000118 | 0 | NA | NA | NA | 20.3331154 |
7 | 33061694 | 33061694 | T | G | exonic | NT5C3A | NA | nonsynonymous SNV | exonic | ENSG00000122643 | NA | nonsynonymous SNV | Score=575;Name=lod=289 | NA | 7p14.3 | Score=798;Name=V$COMP1_01 | NA | NA | NA | rs144452782 | 0.000599042 | 0.003 | NA | NA | NA | NA | 0.001 | 0.0019 | 0.16 | T | 0.999 | D | 0.989 | D | 0.000 | D | 1.000 | D | 2.14 | M | -1.9 | D | 0.474 | D | 0.725 | D | 4.197 | 21.8 | 5.4 | 2.058 | 4.731 | 15.418 | 4.196983 | 4.196983 | 0.09 | 0.001862 | 0.000683 | NA | NA | NA | 20.3274714 |
1 | 32674927 | 32674927 | T | C | exonic | DCDC2B | NA | nonsynonymous SNV | exonic | ENSG00000222046 | NA | nonsynonymous SNV | Score=489;Name=lod=130 | NA | 1p35.1 | NA | Name=Pol2 | NA | NA | rs144804850 | 0.00139776 | 0.005 | NA | 0.0029 | NA | NA | 0.0053 | 0.01 | 0 | D | 1.0 | D | 1.0 | D | . | . | 1.000 | D | 3.045 | M | -4.22 | D | 0.919 | D | 0.936 | D | 4.771 | 26.8 | 5.16 | 2.078 | 7.399 | 14.958 | 4.770833 | 4.770833 | 0 | 0.008095 | 0.001212 | NA | NA | NA | 20.3149384 |
19 | 40421270 | 40421270 | C | T | exonic | FCGBP | NA | nonsynonymous SNV | exonic | ENSG00000090920 | NA | nonsynonymous SNV | Score=449;Name=lod=89 | NA | 19q13.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000009676 | NA | 0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 2.91 | M | -0.15 | T | 0.129 | D | 0.496 | T | 5.266 | 33 | 4.94 | 2.449 | 7.747 | 17.284 | 5.265948 | 5.265948 | NA | NA | NA | NA | NA | NA | 19.3333237 |
9 | 35733406 | 35733406 | T | C | exonic | CREB3 | NA | nonsynonymous SNV | exonic | ENSG00000107175 | NA | nonsynonymous SNV | NA | NA | 9p13.3 | NA | Name=Pol2,Sin3Ak-20,CTCF,CTCF_(C-20),PU.1 | Name=130 | NA | rs138981526 | 0 | NA | NA | NA | NA | NA | 0.0004 | 0.0002 | 0 | D | 1.0 | D | 0.998 | D | 0.001 | N | 0.950 | D | 2.295 | M | -1.86 | D | 0.443 | D | 0.700 | D | 3.212 | 16.76 | 3.62 | 0.768 | 3.688 | 8.684 | 3.212464 | 3.212464 | 0 | 0.000233 | 0 | NA | NA | NA | 19.3327004 |
1 | 37947235 | 37947235 | A | T | exonic | ZC3H12A | NA | nonsynonymous SNV | exonic | ENSG00000163874 | NA | nonsynonymous SNV | Score=534;Name=lod=198 | NA | 1p34.3 | NA | Name=Egr-1 | Name=29 | NA | rs201388317 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.00007415 | 0.0001 | 0.03 | D | 1.0 | D | 0.994 | D | 0.000 | D | 1.000 | D | 1.935 | M | 0.89 | T | -0.630 | T | 0.240 | T | 4.957 | 28.9 | 5.42 | 2.054 | 5.267 | 15.466 | 4.957246 | 4.957246 | 0 | 0.000116 | 0 | NA | NA | NA | 19.3321433 |
11 | 117979606 | 117979606 | G | C | exonic | TMPRSS4 | NA | nonsynonymous SNV | exonic | ENSG00000137648 | NA | nonsynonymous SNV | Score=391;Name=lod=52 | NA | 11q23.3 | NA | NA | NA | NA | rs45441097 | 0.00259585 | 0.006 | NA | 0.0086 | NA | 0.001 | 0.0042 | 0.01 | 0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 2.97 | M | 0.26 | T | 0.898 | D | 0.961 | D | 4.036 | 20.7 | 4.93 | 2.564 | 5.377 | 15.172 | 4.036391 | 4.036391 | 0 | 0.005121 | 0.000909 | NA | 0.051 | NA | 19.3180124 |
13 | 45589616 | 45589616 | C | G | exonic | KIAA1704 | NA | nonsynonymous SNV | exonic | ENSG00000133114 | NA | nonsynonymous SNV | Score=599;Name=lod=361 | NA | 13q14.12 | NA | Name=c-Fos,GATA-2 | Name=27 | NA | rs151309735 | 0.00199681 | 0.006 | NA | NA | NA | 0.0041 | 0.004 | 0.0077 | 0.05 | D | 0.999 | D | 0.984 | D | 0.000 | D | 1.000 | D | 2.42 | M | . | . | -0.205 | T | 0.374 | T | 4.548 | 24.6 | 5.51 | 2.746 | 7.192 | 18.782 | 4.548355 | 4.548355 | 0.01 | 0.007674 | 0.001589 | NA | NA | NA | 19.3156594 |
6 | 33281504 | 33281504 | C | A | exonic | TAPBP | NA | nonsynonymous SNV | exonic | ENSG00000231925 | NA | nonsynonymous SNV | Score=321;Name=lod=27 | NA | 6p21.32 | NA | Name=EBF,Pol2,CEBPB,TBP,BAF155,EBF1_(C-8) | Name=111 | NA | rs45583737 | 0.00339457 | 0.0089 | NA | 0.0029 | 0.0008 | 0.0051 | 0.0051 | 0.0076 | 0 | D | 1.0 | D | 0.996 | D | 0.000 | D | 0.996 | D | 2.28 | M | 1.14 | T | -0.631 | T | 0.222 | T | 1.795 | 11.96 | 4.15 | 2.300 | 1.961 | 12.127 | 1.795345 | 1.795345 | 0 | 0.007572 | 0.001365 | NA | NA | NA | 19.3117614 |
4 | 82369284 | 82369284 | T | G | exonic | RASGEF1B | NA | nonsynonymous SNV | exonic | ENSG00000138670 | NA | nonsynonymous SNV | Score=558;Name=lod=248 | NA | 4q21.21 | NA | Name=FOSL1_(SC-183) | Name=7 | NA | NA | NA | NA | NA | NA | NA | NA | 0.00006589 | NA | 0.06 | T | 0.972 | D | 0.844 | P | 0.000 | D | 1.000 | D | 2.085 | M | 1.58 | T | -0.886 | T | 0.156 | T | 4.644 | 25.5 | 5.31 | 2.243 | 5.820 | 15.100 | 4.643658 | 4.643658 | 0.01 | NA | NA | NA | NA | NA | 18.8332675 |
3 | 154886383 | 154886383 | A | G | exonic | MME | NA | nonsynonymous SNV | exonic | ENSG00000196549 | NA | nonsynonymous SNV | Score=496;Name=lod=138 | NA | 3q25.2 | Score=862;Name=V$OCT1_07 | NA | NA | NA | rs181745819 | 0.000399361 | 0.001 | NA | 0.0014 | NA | NA | 0.00003301 | 0.0028 | 0.12 | T | 0.976 | D | 0.739 | P | 0.000 | D | 1.000 | D | 1 | L | -1.64 | D | 0.011 | D | 0.512 | D | 3.865 | 19.64 | 5.25 | 1.988 | 7.082 | 15.182 | 3.865446 | 3.865446 | 0.07 | NA | NA | NA | NA | NA | 18.8323004 |
11 | 18047154 | 18047154 | C | T | exonic | TPH1 | NA | nonsynonymous SNV | exonic | ENSG00000129167 | NA | nonsynonymous SNV | Score=659;Name=lod=635 | NA | 11p15.1 | NA | NA | NA | NA | rs145855109 | 0.000399361 | NA | NA | NA | NA | 0.002 | 0.0007 | 0.0007 | 0.02 | D | 0.808 | P | 0.298 | B | 0.000 | D | 1.000 | D | 3.28 | M | -6.41 | D | 1.111 | D | 0.981 | D | 4.904 | 28.3 | 5.71 | 2.692 | 7.773 | 19.834 | 4.904046 | 4.904046 | 0.03 | 0.000699 | 0 | NA | NA | NA | 18.8319344 |
18 | 19153835 | 19153835 | C | T | exonic | ESCO1 | NA | nonsynonymous SNV | exonic | ENSG00000141446 | NA | nonsynonymous SNV | Score=586;Name=lod=322 | NA | 18q11.2 | Score=824;Name=V$FOXO3_01 | Name=MafK_(ab50322) | NA | NA | rs148536942 | 0.00119808 | 0.003 | NA | 0.0029 | 0.0008 | NA | 0.0012 | 0.01 | 0.03 | D | 0.996 | D | 0.837 | P | 0.000 | D | 0.998 | D | 1.935 | M | 1.44 | T | -0.398 | T | 0.296 | T | 4.078 | 21 | 5.74 | 2.715 | 5.038 | 18.116 | 4.078169 | 4.078169 | NA | 0.001628 | 0.000227 | NA | NA | NA | 18.8275054 |
16 | 2287649 | 2287649 | A | C | exonic | DNASE1L2 | NA | nonsynonymous SNV | exonic | ENSG00000167968 | NA | nonsynonymous SNV | Score=403;Name=lod=58 | NA | 16p13.3 | NA | Name=Pol2 | Name=10 | NA | rs62621282 | 0.00259585 | 0.005 | NA | 0.0115 | NA | NA | 0.0026 | 0.01 | 0.14 | T | 0.984 | D | 0.831 | P | 0.000 | D | 0.528 | N | 2.56 | M | -1.28 | T | 0.199 | D | 0.502 | D | 2.54 | 14.45 | 4.37 | 1.833 | 4.650 | 9.904 | 2.539914 | 2.539914 | 0.02 | 0.002908 | 0.000761 | NA | NA | NA | 18.8228254 |
21 | 33975515 | 33975515 | C | T | exonic | C21orf59 | NA | nonsynonymous SNV | exonic | ENSG00000159079,ENSG00000265590 | NA | nonsynonymous SNV | Score=554;Name=lod=239 | NA | 21q22.11 | Score=959;Name=V$MZF1_01 | NA | NA | NA | rs61735781 | 0.00379393 | 0.0099 | NA | 0.0014 | NA | 0.0082 | 0.0045 | 0.011 | 0.02 | D | 0.999 | D | 0.907 | P | 0.000 | D | 0.999 | D | 2.77 | M | . | . | 0.014 | D | 0.434 | T | 4.317 | 22.6 | 5.38 | 2.677 | 2.548 | 19.501 | 4.316671 | 4.316671 | 0.01 | 0.007209 | 0.001362 | NA | 0.065 | NA | 18.8117244 |
9 | 37711382 | 37711382 | G | C | exonic | FRMPD1 | NA | nonsynonymous SNV | exonic | ENSG00000070601 | NA | nonsynonymous SNV | Score=472;Name=lod=111 | NA | 9p13.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | D | 1.0 | D | 0.984 | D | 0.000 | D | 1.000 | D | 2.53 | M | 0.63 | T | -0.384 | T | 0.311 | T | 4.135 | 21.3 | 5.31 | 2.486 | 5.331 | 14.482 | 4.135137 | 4.135137 | 0 | NA | NA | NA | NA | NA | 18.3333334 |
11 | 45891977 | 45891977 | T | G | exonic | CRY2 | NA | nonsynonymous SNV | exonic | ENSG00000121671 | NA | nonsynonymous SNV | Score=538;Name=lod=204 | NA | 11p11.2 | Score=764;Name=V$HOX13_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | D | 0.923 | P | 0.85 | P | 0.000 | D | 0.997 | D | 3.075 | M | . | . | 0.057 | D | 0.461 | T | 3.783 | 19.2 | -2.88 | -0.421 | -1.309 | 15.300 | 3.78254 | 3.78254 | 0 | NA | NA | NA | NA | NA | 18.3333334 |
16 | 23456431 | 23456431 | G | C | exonic | COG7 | NA | nonsynonymous SNV | exonic | ENSG00000168434 | NA | nonsynonymous SNV | Score=533;Name=lod=195 | NA | 16p12.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.04 | D | 0.999 | D | 0.964 | D | 0.000 | D | 1.000 | D | 2.22 | M | 0.01 | T | -0.175 | T | 0.430 | T | 4.863 | 27.8 | 5.55 | 2.601 | 6.753 | 18.498 | 4.863331 | 4.863331 | 0 | NA | NA | NA | NA | NA | 18.3333334 |
5 | 140209597 | 140209597 | G | T | exonic | PCDHA6 | NA | nonsynonymous SNV | exonic | ENSG00000081842 | NA | nonsynonymous SNV | Score=259;Name=lod=15 | NA | 5q31.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00002487 | NA | 0 | D | 1.0 | D | 0.99 | D | 0.002 | U | 1.000 | D | 3.355 | M | 0.69 | T | 0.010 | D | 0.385 | T | 1.802 | 11.98 | 3.98 | 2.216 | 5.619 | 16.652 | 1.801839 | 1.801839 | 0 | NA | NA | NA | NA | NA | 18.3333085 |
18 | 21494777 | 21494777 | C | A | exonic | LAMA3 | NA | nonsynonymous SNV | exonic | ENSG00000053747 | NA | nonsynonymous SNV | Score=361;Name=lod=39 | NA | 18q11.2 | NA | NA | NA | NA | rs201547061 | 0.000399361 | NA | NA | 0.0029 | NA | NA | 0.00004956 | 0.0028 | 0.01 | D | 1.0 | D | 1.0 | D | . | . | 1.000 | D | 2.52 | M | -0.81 | T | 0.325 | D | 0.608 | D | 3.39 | 17.44 | 4.87 | 2.513 | 4.889 | 18.201 | 3.39001 | 3.39001 | 0 | NA | NA | NA | NA | NA | 18.3332838 |
12 | 21028181 | 21028181 | T | A | exonic | SLCO1B3 | NA | nonsynonymous SNV | exonic | ENSG00000111700,ENSG00000257046 | NA | nonsynonymous SNV | Score=355;Name=lod=37 | NA | 12p12.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.0001 | NA | 0 | D | 1.0 | D | 0.998 | D | 0.000 | D | 1.000 | D | 3.42 | M | 0.87 | T | -0.245 | T | 0.323 | T | 2.492 | 14.29 | 3.92 | 1.653 | 6.000 | 11.126 | 2.492348 | 2.492348 | 0 | NA | NA | NA | NA | NA | 18.3332334 |
17 | 39620376 | 39620376 | C | T | exonic | KRT32 | NA | nonsynonymous SNV | exonic | ENSG00000108759 | NA | nonsynonymous SNV | Score=399;Name=lod=56 | NA | 17q21.2 | NA | NA | NA | NA | rs144111267 | 0.00179712 | NA | NA | NA | 0.0068 | NA | 0.001 | 0.0089 | 0.01 | D | 1.0 | D | 0.997 | D | 0.005 | N | 0.812 | D | 1.8 | L | -2.68 | D | 0.706 | D | 0.728 | D | 3.85 | 19.56 | 5.04 | 2.492 | 3.649 | 11.270 | 3.849917 | 3.849917 | 0.03 | 0 | 0.008852 | NA | NA | NA | 18.3323334 |
1 | 211836799 | 211836799 | A | G | exonic | NEK2 | NA | nonsynonymous SNV | exonic | ENSG00000117650 | NA | nonsynonymous SNV | Score=374;Name=lod=44 | NA | 1q32.3 | NA | NA | NA | NA | rs202099146 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.00008719 | 0.0013 | 0.29 | T | 1.0 | D | 0.977 | D | 0.001 | D | 1.000 | D | 1.43 | L | -2.4 | D | 0.438 | D | 0.742 | D | 3.989 | 20.4 | 5.46 | 2.195 | 7.714 | 15.834 | 3.988833 | 3.988833 | 0.09 | 0.000349 | 0 | NA | NA | NA | 18.3318972 |
5 | 76029285 | 76029285 | C | A | exonic | F2R | NA | nonsynonymous SNV | exonic | ENSG00000181104 | NA | nonsynonymous SNV | NA | NA | 5q13.3 | Score=719;Name=V$SEF1_C | NA | NA | NA | rs2227799 | 0.00119808 | 0.003 | NA | 0.0014 | 0.0015 | NA | 0.0003 | 0.011 | 0.04 | D | 1.0 | D | 0.972 | D | 0.342 | N | 0.872 | D | 1.995 | M | -1.06 | T | 0.314 | D | 0.605 | D | 3.121 | 16.43 | 4.79 | 2.641 | 5.039 | 18.378 | 3.121071 | 3.121071 | 0 | 0.000233 | 0.000227 | NA | 0.007 | NA | 18.3298004 |
16 | 16208928 | 16208928 | G | A | exonic | ABCC1 | NA | nonsynonymous SNV | exonic | ENSG00000103222 | NA | nonsynonymous SNV | Score=497;Name=lod=139 | NA | 16p13.11 | NA | NA | NA | NA | rs74985930 | 0.000399361 | 0.001 | NA | NA | NA | 0.001 | 0.0015 | 0.0017 | 0.35 | T | 1.0 | D | 0.997 | D | 0.000 | D | 1.000 | D | 0.105 | N | -2.67 | D | 0.355 | D | 0.686 | D | 3.406 | 17.5 | 5.18 | 2.417 | 7.992 | 17.686 | 3.40567 | 3.40567 | 0.12 | 0.001299 | 0 | ID=COSM702670;OCCURENCE=1(lung) | NA | NA | 18.3295344 |
7 | 103969537 | 103969537 | G | T | exonic | LHFPL3 | NA | nonsynonymous SNV | exonic | ENSG00000187416 | NA | nonsynonymous SNV | Score=831;Name=lod=3182 | NA | 7q22.2 | NA | NA | Name=3 | NA | rs190167677 | 0.000599042 | 0.002 | NA | 0.0014 | NA | NA | 0.0009 | 0.0028 | 0.46 | T | 0.991 | D | 0.962 | D | 0.020 | N | 1.000 | D | 2.62 | M | -0.69 | T | 0.125 | D | 0.629 | D | 4.5 | 24.2 | 5.06 | 2.339 | 9.490 | 18.455 | 4.499961 | 4.499961 | 0.21 | 0.000949 | 0 | NA | NA | NA | 18.3294844 |
15 | 44856827 | 44856827 | G | A | exonic | SPG11 | NA | nonsynonymous SNV | exonic | ENSG00000104133 | NA | nonsynonymous SNV | Score=569;Name=lod=274 | NA | 15q21.1 | Score=768;Name=V$MEF2_01 | NA | NA | NA | rs139334167 | 0.00179712 | 0.004 | NA | 0.0072 | NA | NA | 0.0013 | 0.011 | 0.07 | T | 0.999 | D | 0.967 | D | 0.028 | N | 1.000 | D | 2.125 | M | -1.12 | T | 0.215 | D | 0.560 | D | 3.749 | 19.04 | 5.26 | 1.611 | 1.327 | 15.147 | 3.749209 | 3.749209 | 0.05 | 0.00221 | 0.000682 | NA | 0.007 | NA | 18.3258234 |
17 | 10354727 | 10354727 | T | G | exonic | MYH4 | NA | nonsynonymous SNV | exonic | ENSG00000264424 | NA | nonsynonymous SNV | Score=401;Name=lod=57 | NA | 17p13.1 | NA | NA | NA | NA | rs34610503 | 0.00239617 | 0.002 | NA | 0.0029 | NA | 0.0082 | 0.0032 | 0.0033 | 0.01 | D | 0.849 | P | 0.649 | P | 0.001 | U | 0.979 | D | 2.865 | M | -1.65 | D | 0.444 | D | 0.646 | D | 4.172 | 21.6 | 5.62 | 2.263 | 2.043 | 11.245 | 4.17248 | 4.17248 | NA | 0.003256 | 0.000681 | NA | NA | NA | 18.3248774 |
12 | 58018668 | 58018668 | T | G | exonic | SLC26A10 | NA | nonsynonymous SNV | exonic | ENSG00000135502 | NA | nonsynonymous SNV | Score=340;Name=lod=32 | NA | 12q13.3 | NA | NA | NA | NA | rs111924104 | 0.00359425 | 0.003 | NA | 0.0058 | 0.0053 | 0.0041 | 0.0054 | 0.01 | 0.03 | D | 0.997 | D | 0.952 | D | . | . | 1.000 | D | 1.735 | L | -2.4 | D | 0.394 | D | 0.697 | D | 2.246 | 13.47 | 3.65 | 2.029 | 4.422 | 7.261 | 2.246357 | 2.246357 | 0.02 | 0.00686 | 0.004085 | NA | NA | NA | 18.3180734 |
16 | 89986091 | 89986091 | G | A | exonic | MC1R | NA | nonsynonymous SNV | exonic | ENSG00000198211,ENSG00000258839 | NA | nonsynonymous SNV | Score=538;Name=lod=204 | NA | 16q24.3 | NA | NA | NA | NA | rs11547464 | 0.00279553 | 0.0089 | NA | 0.0058 | 0.0008 | NA | 0.005 | 0.01 | . | . | 1.0 | D | 1.0 | D | 0.001 | U | 1.000 | D | 4.11 | H | -4.27 | D | 0.907 | D | 0.957 | D | 5.507 | 35 | 4.81 | 2.234 | 6.453 | 16.852 | 5.507412 | 5.507412 | 0 | 0.007442 | 0.000682 | NA | NA | NA | 18.3119914 |
2 | 179643775 | 179643775 | C | T | exonic | TTN | NA | nonsynonymous SNV | exonic | ENSG00000155657 | NA | nonsynonymous SNV | Score=638;Name=lod=524 | NA | 2q31.2 | Score=855;Name=V$ZID_01 | NA | NA | NA | rs36021856 | 0.00379393 | 0.0159 | NA | 0.0043 | NA | NA | 0.0099 | 0.02 | 0 | D | 1.0 | D | 1.0 | D | . | . | 1.000 | D | 2.38 | M | -0.24 | T | -0.120 | T | 0.356 | T | 3.312 | 17.13 | 5.72 | 2.711 | 7.781 | 19.895 | 3.311645 | 3.311645 | 0.03 | 0.007326 | 0.000681 | NA | NA | CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040288.1|RCV000126011.1;CLNDSDB=.|.;CLNDSDBID=.|. | 18.3002074 |
14 | 75416073 | 75416073 | T | C | exonic | PGF | NA | nonsynonymous SNV | exonic | ENSG00000119630 | NA | nonsynonymous SNV | Score=483;Name=lod=123 | NA | 14q24.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001789 | NA | 0 | D | 0.999 | D | 0.888 | P | 0.000 | D | 0.976 | D | 1.965 | M | . | . | -0.440 | T | 0.292 | T | 3.616 | 18.4 | 4.16 | 1.753 | 4.210 | 10.189 | 3.615925 | 3.615925 | 0 | NA | NA | NA | NA | NA | 17.8333155 |
9 | 109692959 | 109692959 | G | C | exonic | ZNF462 | NA | nonsynonymous SNV | exonic | ENSG00000148143 | NA | nonsynonymous SNV | Score=419;Name=lod=67 | NA | 9q31.2 | Score=758;Name=V$HEN1_02 | NA | Name=7 | NA | NA | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.00002474 | NA | 0.1 | T | 0.991 | D | 0.766 | P | 0.000 | D | 1.000 | D | 0.55 | N | 3.9 | T | -1.035 | T | 0.024 | T | 3.262 | 16.95 | 5.09 | 2.359 | 2.745 | 13.474 | 3.262111 | 3.262111 | 0.01 | NA | NA | NA | NA | NA | 17.8323087 |
5 | 39311336 | 39311336 | A | T | exonic | C9 | NA | nonsynonymous SNV | exonic | ENSG00000113600 | NA | nonsynonymous SNV | Score=533;Name=lod=195 | NA | 5p13.1 | Score=741;Name=V$MEF2_04 | NA | NA | NA | rs141600725 | 0.000399361 | NA | NA | 0.0014 | NA | 0.001 | 0.0008 | 0.0028 | 0.48 | T | 0.957 | D | 0.67 | P | 0.000 | D | 0.981 | D | 1.75 | L | -2.07 | D | -0.125 | T | 0.536 | D | 4.201 | 21.8 | 4.31 | 2.082 | 1.646 | 9.879 | 4.201417 | 4.201417 | 0.04 | 0.002093 | 0.000681 | NA | NA | NA | 17.8304404 |
11 | 16824599 | 16824599 | C | T | exonic | PLEKHA7 | NA | nonsynonymous SNV | exonic | ENSG00000166689 | NA | nonsynonymous SNV | Score=595;Name=lod=349 | NA | 11p15.1 | Score=795;Name=V$ER_Q6 | NA | NA | NA | rs34556458 | 0.0061901 | 0.0119 | NA | 0.0202 | 0.0008 | 0.0041 | 0.0068 | 0.03 | 0.04 | D | 0.995 | D | 0.867 | P | 0.000 | D | 1.000 | D | 2.215 | M | 1.41 | T | -0.980 | T | 0.075 | T | 5.112 | 32 | 5.84 | 2.768 | 7.272 | 19.738 | 5.112012 | 5.112012 | 0.18 | 0.007802 | 0.001591 | NA | NA | NA | 17.8068314 |
7 | 27856536 | 27856536 | A | G | exonic | TAX1BP1 | NA | nonsynonymous SNV | exonic | ENSG00000106052 | NA | nonsynonymous SNV | Score=573;Name=lod=283 | NA | 7p15.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.08 | T | 0.999 | D | 0.985 | D | 0.000 | D | 1.000 | D | 2.085 | M | 2.55 | T | -0.649 | T | 0.246 | T | 4.056 | 20.8 | 5.67 | 2.178 | 7.141 | 15.915 | 4.055665 | 4.055665 | 0 | NA | NA | NA | NA | NA | 17.3333334 |
2 | 73746975 | 73746975 | A | G | exonic | ALMS1 | NA | nonsynonymous SNV | exonic | ENSG00000116127 | NA | nonsynonymous SNV | Score=459;Name=lod=98 | NA | 2p13.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008286 | NA | 0.01 | D | 0.999 | D | 0.996 | D | 0.000 | D | 1.000 | D | 1.525 | L | 2.69 | T | -1.141 | T | 0.075 | T | 4.154 | 21.5 | 5.62 | 2.277 | 4.868 | 12.513 | 4.153814 | 4.153814 | 0 | NA | NA | NA | NA | NA | 17.3333251 |
11 | 73809278 | 73809278 | G | C | exonic | C2CD3 | NA | nonsynonymous SNV | exonic | ENSG00000168014 | NA | nonsynonymous SNV | Score=652;Name=lod=593 | NA | 11q13.4 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008256 | NA | 0.13 | T | 0.998 | D | 0.996 | D | 0.000 | D | 1.000 | D | 2.26 | M | 0.23 | T | -0.331 | T | 0.408 | T | 4.852 | 27.7 | 5.62 | 2.794 | 5.570 | 19.625 | 4.852433 | 4.852433 | 0 | NA | NA | NA | NA | NA | 17.3333251 |
3 | 100605051 | 100605051 | C | A | exonic | ABI3BP | NA | nonsynonymous SNV | exonic | ENSG00000154175 | NA | nonsynonymous SNV | Score=502;Name=lod=146 | NA | 3q12.2 | NA | NA | NA | NA | rs199740093 | NA | NA | NA | NA | NA | NA | 0.00001666 | NA | 0.01 | D | 1.0 | D | 1.0 | D | 0.000 | D | 1.000 | D | 1.905 | M | 1.14 | T | -0.713 | T | 0.230 | T | 4.713 | 26.2 | 5.71 | 2.695 | 6.753 | 19.853 | 4.713332 | 4.713332 | 0 | NA | NA | NA | NA | NA | 17.3333167 |
14 | 45400737 | 45400737 | G | A | exonic | KLHL28 | NA | nonsynonymous SNV | exonic | ENSG00000179454 | NA | nonsynonymous SNV | Score=733;Name=lod=1274 | NA | 14q21.2 | Score=834;Name=V$PAX3_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001687 | NA | 0.18 | T | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 0.33 | N | -1.33 | T | -0.016 | T | 0.489 | T | 2.337 | 13.77 | 4.72 | 2.321 | 5.164 | 17.631 | 2.33746 | 2.33746 | 0.19 | NA | NA | NA | NA | NA | 17.3333165 |
17 | 33457364 | 33457364 | C | T | exonic | FNDC8 | NA | nonsynonymous SNV | exonic | ENSG00000073598 | NA | nonsynonymous SNV | Score=426;Name=lod=72 | NA | 17q12 | Score=694;Name=V$PPARG_02 | Name=Pol2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00002472 | NA | 0 | D | 0.993 | D | 0.353 | B | 0.111 | N | 1.000 | D | 0.345 | N | 1.38 | T | -1.087 | T | 0.053 | T | 2.499 | 14.32 | 3.92 | 1.399 | 2.161 | 10.565 | 2.498818 | 2.498818 | NA | NA | NA | NA | NA | NA | 17.3333087 |
19 | 13869786 | 13869786 | G | A | exonic | CCDC130 | NA | nonsynonymous SNV | exonic | ENSG00000104957 | NA | nonsynonymous SNV | Score=529;Name=lod=188 | NA | 19p13.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.0000254 | NA | 0.12 | T | 1.0 | D | 0.996 | D | 0.000 | D | 1.000 | D | 2.295 | M | 1.46 | T | -0.822 | T | 0.194 | T | 5.029 | 29.7 | 5.06 | 2.645 | 8.591 | 15.954 | 5.028667 | 5.028667 | 0 | NA | NA | ID=COSM991728;OCCURENCE=1(endometrium) | NA | NA | 17.333308 |
1 | 26161677 | 26161677 | C | T | exonic | AUNIP | NA | nonsynonymous SNV | exonic | ENSG00000127423 | NA | nonsynonymous SNV | Score=494;Name=lod=136 | NA | 1p36.11 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00004123 | NA | 0 | D | 1.0 | D | 1.0 | D | 0.000 | D | 0.997 | D | 1.1 | L | -0.43 | T | -0.311 | T | 0.372 | T | 4.158 | 21.5 | 5.39 | 2.826 | 3.943 | 14.588 | 4.158297 | 4.158297 | NA | NA | NA | NA | NA | NA | 17.3332922 |
5 | 172341813 | 172341813 | G | A | exonic | ERGIC1 | NA | nonsynonymous SNV | exonic | ENSG00000113719 | NA | nonsynonymous SNV | Score=567;Name=lod=269 | NA | 5q35.1 | NA | NA | NA | NA | rs369010301 | NA | NA | NA | NA | NA | NA | 0.000008286 | 0.0001 | 0.02 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 2.375 | M | . | . | -0.042 | T | 0.465 | T | 5.204 | 33 | 5.37 | 2.505 | 9.356 | 18.749 | 5.204417 | 5.204417 | 0.01 | 0.000116 | 0 | NA | NA | NA | 17.3332091 |
1 | 161681057 | 161681057 | C | T | exonic | FCRLA | NA | nonsynonymous SNV | exonic | ENSG00000132185 | NA | nonsynonymous SNV | Score=295;Name=lod=21 | NA | 1q23.3 | Score=798;Name=V$PAX5_02 | NA | NA | NA | rs147592382 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.00009095 | 0.0002 | 0 | D | 1.0 | D | 0.949 | D | 0.541 | N | 1.000 | D | 3.42 | M | 2.6 | T | -0.952 | T | 0.087 | T | 3.694 | 18.77 | 4.07 | 1.312 | 1.376 | 9.271 | 3.694062 | 3.694062 | 0 | 0.000233 | 0 | NA | NA | NA | 17.3330094 |
6 | 128303989 | 128303989 | T | A | exonic | PTPRK | NA | nonsynonymous SNV | exonic | ENSG00000152894 | NA | nonsynonymous SNV | Score=583;Name=lod=312 | NA | 6q22.33 | NA | NA | NA | NA | rs144386522 | 0.000599042 | NA | NA | NA | NA | 0.0031 | 0.0004 | 0.0003 | 0 | D | 0.999 | D | 0.984 | D | 0.000 | D | 1.000 | D | 1.935 | M | 1.54 | T | -0.906 | T | 0.137 | T | 4.502 | 24.2 | 5.98 | 2.289 | 8.040 | 16.456 | 4.502096 | 4.502096 | 0 | 0.000349 | 0 | NA | NA | NA | 17.3325844 |
4 | 79432453 | 79432453 | G | A | exonic | FRAS1 | NA | nonsynonymous SNV | exonic | ENSG00000138759 | NA | nonsynonymous SNV | Score=627;Name=lod=469 | NA | 4q21.21 | NA | NA | NA | NA | rs61729366 | 0.00139776 | 0.006 | NA | NA | 0.0008 | NA | 0.0057 | 0.011 | 0.04 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 2.175 | M | 2.46 | T | -1.046 | T | 0.097 | T | 5.455 | 35 | 5.7 | 2.698 | 9.657 | 19.831 | 5.454638 | 5.454638 | 0 | 0.009813 | 0.00119 | NA | 0.007 | NA | 17.3118204 |
16 | 16295863 | 16295863 | T | C | exonic | ABCC6 | NA | nonsynonymous SNV | exonic | ENSG00000091262 | NA | nonsynonymous SNV | Score=537;Name=lod=203 | NA | 16p13.11 | NA | Name=PU.1 | NA | NA | rs72653762 | 0.00279553 | 0.0099 | NA | 0.0029 | NA | 0.002 | 0.0061 | 0.01 | 0 | D | 1.0 | D | 1.0 | D | 0.000 | U | 1.000 | D | 2.68 | M | -2.8 | D | 0.533 | D | 0.760 | D | 2.833 | 15.44 | 1.8 | 0.510 | 0.549 | 9.238 | 2.832967 | 2.832967 | 0 | 0.009186 | 0.001821 | NA | NA | NA | 17.3081474 |
4 | 154279631 | 154279631 | A | G | exonic | MND1 | NA | nonsynonymous SNV | exonic | ENSG00000121211 | NA | nonsynonymous SNV | Score=603;Name=lod=377 | NA | 4q31.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.06 | T | 0.973 | D | 0.848 | P | 0.000 | D | 1.000 | D | 2.34 | M | . | . | -0.224 | T | 0.395 | T | 2.993 | 15.98 | 5.7 | 2.165 | 7.047 | 15.959 | 2.992863 | 2.992863 | 0.03 | NA | NA | NA | NA | NA | 16.8333334 |
11 | 92531088 | 92531088 | T | A | exonic | FAT3 | NA | nonsynonymous SNV | exonic | ENSG00000165323 | NA | nonsynonymous SNV | Score=435;Name=lod=78 | NA | 11q14.3 | Score=836;Name=V$ER_Q6 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.01 | D | 0.962 | D | 0.604 | P | . | . | 1.000 | D | 1.54 | L | 0.64 | T | -0.787 | T | 0.177 | T | 3.834 | 19.47 | 5.81 | 2.224 | 7.975 | 16.167 | 3.83398 | 3.83398 | 0.01 | NA | NA | NA | NA | NA | 16.8333334 |
16 | 24834847 | 24834847 | C | A | exonic | TNRC6A | NA | nonsynonymous SNV | exonic | ENSG00000090905 | NA | nonsynonymous SNV | Score=695;Name=lod=890 | NA | 16p12.1 | Score=745;Name=V$MYOGNF1_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.17 | T | 0.976 | D | 0.761 | P | 0.000 | D | 1.000 | D | 0.415 | N | 2.76 | T | -0.681 | T | 0.204 | T | 1.806 | 12 | 5.64 | 2.638 | 3.601 | 19.710 | 1.806007 | 1.806007 | 0.47 | NA | NA | NA | NA | NA | 16.8333334 |
2 | 209010521 | 209010521 | G | A | exonic | CRYGB | NA | nonsynonymous SNV | exonic | ENSG00000182187 | NA | nonsynonymous SNV | Score=464;Name=lod=103 | NA | 2q34 | Score=801;Name=V$TCF11MAFG_01 | NA | NA | NA | rs201502749 | 0.000199681 | NA | 0.001 | NA | NA | NA | 0.00004222 | 0.0017 | 0.04 | D | 0.777 | P | 0.343 | B | 0.000 | D | 1.000 | D | 2.71 | M | -1.05 | T | -0.125 | T | 0.427 | T | 2.277 | 13.57 | 2.74 | 1.314 | 1.516 | 10.103 | 2.276697 | 2.276697 | 0.05 | NA | NA | ID=COSM573104;OCCURENCE=1(lung) | NA | NA | 16.8332912 |
3 | 54933874 | 54933874 | C | T | exonic | CACNA2D3 | NA | nonsynonymous SNV | exonic | ENSG00000157445 | NA | nonsynonymous SNV | Score=537;Name=lod=203 | NA | 3p14.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00009301 | NA | 0.03 | D | 0.998 | D | 0.644 | P | 0.000 | D | 1.000 | D | 1.245 | L | -0.53 | T | -0.497 | T | 0.291 | T | 4.382 | 23.2 | 4.63 | 2.624 | 3.589 | 10.541 | 4.381507 | 4.381507 | 0.02 | NA | NA | NA | NA | NA | 16.8332404 |
1 | 202126900 | 202126900 | C | T | exonic | PTPN7 | NA | nonsynonymous SNV | exonic | ENSG00000143851 | NA | nonsynonymous SNV | Score=516;Name=lod=167 | NA | 1q32.1 | Score=761;Name=V$P53_01 | NA | Name=3 | NA | rs149783764 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.0004 | 0.0013 | 0.11 | T | 0.983 | D | 0.713 | P | 0.000 | D | 1.000 | D | 0.945 | L | 2.76 | T | -0.603 | T | 0.237 | T | 2.399 | 13.98 | 5.18 | 2.400 | 1.862 | 18.677 | 2.399048 | 2.399048 | 0.08 | 0.000349 | 0.000227 | NA | NA | NA | 16.8305844 |
2 | 179597590 | 179597590 | T | C | exonic | TTN | NA | nonsynonymous SNV | exonic | ENSG00000155657 | NA | nonsynonymous SNV | Score=463;Name=lod=102 | NA | 2q31.2 | Score=777;Name=V$HEN1_01 | NA | NA | NA | rs190636272 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0008 | 0.0013 | 0 | D | 0.98 | D | 0.819 | P | . | . | 1.000 | D | 0.3 | N | -0.26 | T | -0.428 | T | 0.279 | T | 2.052 | 12.82 | 6.17 | 2.371 | 6.036 | 16.822 | 2.051998 | 2.051998 | NA | 0.000964 | 0.000254 | NA | NA | CLINSIG=unknown;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000039885.1;CLNDSDB=.;CLNDSDBID=. | 16.8305694 |
4 | 57829669 | 57829669 | G | A | exonic | NOA1 | NA | nonsynonymous SNV | exonic | ENSG00000084092 | NA | nonsynonymous SNV | Score=439;Name=lod=81 | NA | 4q12 | NA | NA | NA | NA | rs61747375 | 0.00379393 | 0.004 | NA | 0.0043 | NA | 0.0123 | 0.0031 | 0.011 | 0.01 | D | 0.997 | D | 0.861 | P | 0.000 | D | 1.000 | D | 2.585 | M | 1.1 | T | -0.540 | T | 0.211 | T | 3.875 | 19.69 | 5.41 | 2.681 | 5.124 | 19.159 | 3.875361 | 3.875361 | 0 | 0.002326 | 0.001135 | NA | 0.007 | NA | 16.8239074 |
17 | 17697404 | 17697404 | C | T | exonic | RAI1 | NA | nonsynonymous SNV | exonic | ENSG00000108557 | NA | nonsynonymous SNV | Score=422;Name=lod=69 | NA | 17p11.2 | NA | NA | NA | NA | rs113208290 | 0.00299521 | 0.0109 | NA | 0.0043 | NA | 0.001 | 0.0036 | 0.011 | 0.04 | D | 0.976 | D | 0.696 | P | 0.005 | N | 1.000 | D | 1.935 | M | 1.44 | T | -0.975 | T | 0.106 | T | 3.01 | 16.04 | 5.55 | 2.621 | 3.141 | 19.494 | 3.010211 | 3.010211 | 0.01 | 0.004651 | 0.001589 | NA | 0.007 | CLINSIG=other;CLNDBN=not_specified;CLNREVSTAT=mult;CLNACC=RCV000082255.3;CLNDSDB=.;CLNDSDBID=. | 16.8141824 |
2 | 170029657 | 170029657 | C | T | exonic | LRP2 | NA | nonsynonymous SNV | exonic | ENSG00000081479 | NA | nonsynonymous SNV | Score=429;Name=lod=74 | NA | 2q31.1 | Score=830;Name=V$CHOP_01 | NA | NA | NA | rs34355135 | 0.00379393 | 0.006 | NA | 0.0115 | NA | 0.0051 | 0.0055 | 0.01 | 0.23 | T | 0.607 | P | 0.145 | B | 0.000 | N | 1.000 | D | 3.27 | M | -3.93 | D | 0.063 | D | 0.724 | D | 1.279 | 10.18 | -0.879 | -0.167 | 1.262 | 3.473 | 1.279458 | 1.279458 | 0.04 | 0.007791 | 0.001589 | NA | NA | CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=single;CLNACC=RCV000117500.1;CLNDSDB=.;CLNDSDBID=. | 16.8140424 |
9 | 8465666 | 8465666 | C | G | exonic | PTPRD | NA | nonsynonymous SNV | exonic | ENSG00000153707 | NA | nonsynonymous SNV | Score=616;Name=lod=425 | NA | 9p24.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | . | . | 0.981 | D | 0.932 | D | 0.000 | D | 1.000 | D | 1.78 | L | 0.91 | T | -0.619 | T | 0.306 | T | 4.144 | 21.4 | 5.5 | 2.746 | 7.445 | 19.757 | 4.144176 | 4.144176 | 0.25 | NA | NA | NA | NA | NA | 16.3333334 |
19 | 9296702 | 9296702 | T | C | exonic | OR7D2 | NA | nonsynonymous SNV | exonic | ENSG00000188000 | NA | nonsynonymous SNV | NA | NA | 19p13.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | D | 0.999 | D | 0.967 | D | 0.007 | U | 0.992 | D | 4.13 | H | 7.41 | T | -1.048 | T | 0.006 | T | 2.851 | 15.5 | 2.21 | 1.296 | 6.633 | 9.517 | 2.85105 | 2.85105 | 0 | NA | NA | NA | NA | NA | 16.3333334 |
6 | 35258481 | 35258481 | G | T | exonic | ZNF76 | NA | nonsynonymous SNV | exonic | ENSG00000065029 | NA | nonsynonymous SNV | Score=589;Name=lod=329 | NA | 6p21.31 | Score=960;Name=V$CEBP_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008238 | NA | 0.4 | T | 0.956 | P | 0.622 | P | 0.000 | D | 0.962 | D | 1.01 | L | 1.28 | T | -1.145 | T | 0.056 | T | 3.213 | 16.76 | 5.36 | 2.797 | 5.944 | 13.575 | 3.212611 | 3.212611 | 0.18 | NA | NA | NA | NA | NA | 16.3333252 |
5 | 140209598 | 140209598 | A | T | exonic | PCDHA6 | NA | nonsynonymous SNV | exonic | ENSG00000081842 | NA | nonsynonymous SNV | Score=259;Name=lod=15 | NA | 5q31.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00002487 | NA | 0 | D | 0.998 | D | 0.96 | D | 0.002 | U | 1.000 | D | 2.035 | M | 0.74 | T | -0.681 | T | 0.236 | T | 1.748 | 11.8 | 2.8 | 0.692 | 8.187 | 9.474 | 1.747703 | 1.747703 | 0 | NA | NA | NA | NA | NA | 16.3333085 |
14 | 39868794 | 39868794 | C | T | exonic | FBXO33 | NA | nonsynonymous SNV | exonic | ENSG00000165355 | NA | nonsynonymous SNV | Score=654;Name=lod=609 | NA | 14q21.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00003489 | NA | . | . | 0.999 | D | 0.972 | D | 0.000 | D | 1.000 | D | 0.345 | N | 0.89 | T | -0.935 | T | 0.153 | T | 2.384 | 13.93 | 5.85 | 2.767 | 4.383 | 20.154 | 2.384205 | 2.384205 | 0 | NA | NA | NA | NA | NA | 16.3332985 |
6 | 155606327 | 155606327 | T | C | exonic | TFB1M | NA | nonsynonymous SNV | exonic | ENSG00000029639 | NA | nonsynonymous SNV | Score=336;Name=lod=31 | NA | 6q25.3 | Score=752;Name=V$STAT3_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00009887 | NA | 0.74 | T | 0.372 | B | 0.216 | B | 0.001 | D | 0.999 | D | 2.045 | M | 1.58 | T | -1.100 | T | 0.042 | T | 1.667 | 11.53 | 5.9 | 2.254 | 2.609 | 12.174 | 1.666688 | 1.666688 | 0.94 | NA | NA | NA | NA | NA | 16.3332345 |
18 | 21104425 | 21104425 | A | G | exonic | C18orf8 | NA | nonsynonymous SNV | exonic | ENSG00000141452 | NA | nonsynonymous SNV | Score=525;Name=lod=182 | NA | 18q11.2 | NA | NA | NA | NA | rs147982431 | NA | NA | NA | NA | NA | NA | 0.0002 | 0.001 | 0.22 | T | 0.994 | D | 0.978 | D | 0.000 | D | 1.000 | D | 2.14 | M | . | . | -0.304 | T | 0.408 | T | 4.538 | 24.5 | 5.4 | 2.032 | 8.857 | 15.412 | 4.538377 | 4.538377 | 0 | 0.001047 | 0 | NA | NA | NA | 16.3320864 |
3 | 57303603 | 57303603 | C | G | exonic | APPL1 | NA | nonsynonymous SNV | exonic | ENSG00000157500 | NA | nonsynonymous SNV | Score=689;Name=lod=844 | NA | 3p14.3 | NA | NA | NA | NA | rs138485817 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.0006 | 0.0028 | 0.02 | D | 0.999 | D | 0.99 | D | 0.000 | D | 1.000 | D | 0.975 | L | 2.74 | T | -1.150 | T | 0.076 | T | 2.898 | 15.66 | 5.65 | 2.817 | 7.436 | 20.078 | 2.897885 | 2.897885 | 0.01 | 0.001977 | 0 | NA | NA | NA | 16.3307564 |
13 | 46538118 | 46538118 | G | T | exonic | ZC3H13 | NA | nonsynonymous SNV | exonic | ENSG00000123200 | NA | nonsynonymous SNV | Score=635;Name=lod=507 | NA | 13q14.13 | NA | NA | NA | NA | rs143461574 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.0007 | 0.0026 | 0 | D | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 1.7 | L | 2.3 | T | -0.557 | T | 0.286 | T | 3.7 | 18.8 | 5.73 | 2.713 | 5.284 | 19.898 | 3.70006 | 3.70006 | 0 | 0.000465 | 0 | NA | NA | NA | 16.3301684 |
2 | 101643904 | 101643904 | C | G | exonic | TBC1D8 | NA | nonsynonymous SNV | exonic | ENSG00000204634 | NA | nonsynonymous SNV | Score=295;Name=lod=21 | NA | 2q11.2 | Score=759;Name=V$STAT3_01 | NA | NA | NA | rs201720097 | 0.000599042 | 0.002 | NA | NA | NA | 0.001 | 0.0007 | 0.0026 | 0.81 | T | 1.0 | D | 0.998 | D | 0.000 | D | 0.945 | D | 1.78 | L | 0.82 | T | -0.787 | T | 0.238 | T | 3.891 | 19.78 | 5.18 | 2.554 | 3.810 | 17.238 | 3.891088 | 3.891088 | 0.01 | 0.000484 | 0 | NA | NA | NA | 16.3301494 |
4 | 70361182 | 70361182 | T | C | exonic | UGT2B4 | NA | nonsynonymous SNV | exonic | ENSG00000156096 | NA | nonsynonymous SNV | Score=272;Name=lod=17 | NA | 4q13.2 | NA | NA | NA | NA | rs181603790 | 0.000998403 | NA | NA | 0.0058 | 0.0008 | NA | 0.0016 | 0.01 | 0.05 | D | 1.0 | D | 0.999 | D | 0.003 | U | 0.999 | D | 2.305 | M | -0.06 | T | -0.445 | T | 0.293 | T | 1.7 | 11.64 | 2.4 | 1.101 | 3.264 | 8.360 | 1.699937 | 1.699937 | 0.03 | 0.002234 | 0.00048 | NA | NA | NA | 16.3294994 |
13 | 53049198 | 53049198 | G | C | exonic | CKAP2 | NA | nonsynonymous SNV | exonic | ENSG00000136108 | NA | nonsynonymous SNV | Score=340;Name=lod=32 | NA | 13q14.3 | Score=947;Name=V$LYF1_01 | NA | NA | NA | rs34624748 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.002 | 0.002 | 0.01 | D | 1.0 | D | 0.996 | D | 0.000 | D | 1.000 | D | 2.485 | M | 1.69 | T | -0.804 | T | 0.159 | T | 3.047 | 16.17 | 3.86 | 0.607 | 0.748 | 9.738 | 3.047053 | 3.047053 | 0 | 0.001977 | 0 | NA | NA | NA | 16.3283564 |
9 | 94486381 | 94486381 | G | A | exonic | ROR2 | NA | nonsynonymous SNV | exonic | ENSG00000169071 | NA | nonsynonymous SNV | Score=563;Name=lod=260 | NA | 9q22.31 | Score=824;Name=V$CEBP_C | NA | NA | NA | rs141235720 | 0.000399361 | 0.001 | NA | NA | 0.0008 | NA | 0.0021 | 0.0034 | 0.33 | T | 1.0 | D | 0.996 | D | 0.001 | D | 1.000 | D | 0.805 | L | -1.13 | T | -0.210 | T | 0.474 | T | 2.77 | 15.22 | 4.65 | 2.415 | 4.347 | 17.751 | 2.770186 | 2.770186 | 0.19 | 0.003372 | 0.000908 | ID=COSM48755;OCCURENCE=1(lung),1(large_intestine) | NA | NA | 16.3268614 |
9 | 134308126 | 134308126 | G | A | exonic | PRRC2B | NA | nonsynonymous SNV | exonic | ENSG00000130723 | NA | nonsynonymous SNV | Score=720;Name=lod=1122 | NA | 9q34.13 | NA | NA | NA | NA | rs41302675 | 0.00139776 | 0.003 | NA | 0.0043 | NA | 0.001 | 0.0038 | 0.004 | 0.02 | D | 0.997 | D | 0.992 | D | 0.002 | U | 1.000 | D | 2.7 | M | 1.08 | T | -0.418 | T | 0.323 | T | 5.537 | 35 | 6.03 | 2.861 | 9.476 | 19.545 | 5.537088 | 5.537088 | 0 | 0.002959 | 0.001207 | NA | NA | NA | 16.3235744 |
5 | 140362125 | 140362125 | C | G | exonic | PCDHA1,PCDHA10,PCDHA11,PCDHA12,PCDHA13,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9,PCDHAC1,PCDHAC2 | NA | nonsynonymous SNV | exonic | ENSG00000081842,ENSG00000204961,ENSG00000204962,ENSG00000204963,ENSG00000204965,ENSG00000204967,ENSG00000204969,ENSG00000204970,ENSG00000239389,ENSG00000243232,ENSG00000248383,ENSG00000249158,ENSG00000250120,ENSG00000251664,ENSG00000255408 | NA | nonsynonymous SNV | Score=608;Name=lod=396 | NA | 5q31.3 | NA | Name=POU2F2,Oct-2,Pbx3,PU.1 | NA | NA | rs79247475 | 0.00159744 | 0.005 | NA | NA | NA | 0.0031 | 0.0055 | 0.011 | 0.08 | T | 1.0 | D | 0.998 | D | 0.001 | D | 1.000 | D | 1.845 | L | 0.78 | T | -0.605 | T | 0.247 | T | 4.546 | 24.6 | 5.9 | 2.802 | 4.950 | 17.179 | 4.545576 | 4.545576 | 0 | 0.004302 | 0.000454 | NA | 0.007 | NA | 16.3185314 |
2 | 242742842 | 242742842 | A | G | exonic | GAL3ST2 | NA | nonsynonymous SNV | exonic | ENSG00000154252 | NA | nonsynonymous SNV | Score=340;Name=lod=32 | NA | 2q37.3 | NA | Name=Egr-1 | NA | NA | rs139344622 | 0.00119808 | 0.003 | NA | 0.0029 | NA | 0.001 | 0.0051 | 0.008 | 0 | D | 1.0 | D | 0.988 | D | 0.011 | N | 0.877 | N | 3.46 | M | 1.7 | T | -0.689 | T | 0.166 | T | 3.283 | 17.02 | 3.83 | 1.737 | 5.339 | 13.089 | 3.28302 | 3.28302 | 0 | 0.008025 | 0.001589 | NA | 0.007 | NA | 16.3172084 |
20 | 51871502 | 51871502 | G | A | exonic | TSHZ2 | NA | nonsynonymous SNV | exonic | ENSG00000182463 | NA | nonsynonymous SNV | Score=488;Name=lod=128 | NA | 20q13.2 | NA | NA | NA | NA | rs45479792 | 0.00299521 | 0.008 | NA | 0.0072 | 0.0008 | 0.001 | 0.0066 | 0.01 | 0.11 | T | 0.994 | D | 0.97 | D | 0.000 | D | 1.000 | D | 2.31 | M | 1.6 | T | -0.800 | T | 0.148 | T | 3.908 | 19.87 | 4.98 | 1.482 | 7.604 | 17.083 | 3.907598 | 3.907598 | 0.02 | 0.007558 | 0.002043 | NA | NA | NA | 16.3111754 |
10 | 101591737 | 101591737 | T | C | exonic | ABCC2 | NA | nonsynonymous SNV | exonic | ENSG00000023839 | NA | nonsynonymous SNV | NA | NA | 10q24.2 | NA | NA | NA | NA | rs45441199 | 0.00219649 | 0.0099 | NA | 0.0014 | NA | NA | 0.0053 | 0.01 | 0.03 | D | 0.316 | B | 0.232 | B | 0.510 | N | 1.000 | D | 1.985 | M | -3.61 | D | 0.452 | D | 0.762 | D | 2.093 | 12.96 | 5.64 | 2.149 | 2.195 | 15.833 | 2.093462 | 2.093462 | 0.04 | 0.008721 | 0.001362 | NA | 0.014 | NA | 16.3094124 |
10 | 82363337 | 82363337 | C | T | exonic | SH2D4B | NA | nonsynonymous SNV | exonic | ENSG00000178217 | NA | nonsynonymous SNV | Score=361;Name=lod=39 | NA | 10q23.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | NA | 0.05 | D | 0.581 | P | 0.123 | B | 0.000 | N | 1.000 | D | 2.24 | M | 1.97 | T | -1.087 | T | 0.059 | T | 3.44 | 17.64 | 5.12 | 1.567 | 3.181 | 12.934 | 3.43968 | 3.43968 | 0.08 | NA | NA | NA | NA | NA | 15.8333334 |
1 | 36755247 | 36755247 | G | A | exonic | THRAP3 | NA | nonsynonymous SNV | exonic | ENSG00000054118 | NA | nonsynonymous SNV | Score=512;Name=lod=160 | NA | 1p34.3 | Score=739;Name=V$SEF1_C | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.0000083 | NA | 0.08 | T | 0.486 | P | 0.356 | B | 0.000 | D | 1.000 | D | 1.525 | L | 2.55 | T | -1.178 | T | 0.052 | T | 3.876 | 19.69 | 6.06 | 2.882 | 7.827 | 19.609 | 3.875563 | 3.875563 | 0.01 | NA | NA | NA | NA | NA | 15.8333251 |
14 | 105413326 | 105413326 | G | A | exonic | AHNAK2 | NA | nonsynonymous SNV | exonic | ENSG00000185567 | NA | nonsynonymous SNV | Score=431;Name=lod=75 | NA | 14q32.33 | NA | NA | NA | NA | rs369899617 | NA | NA | NA | NA | NA | NA | 0.00004142 | 0.0003 | 0.01 | D | 0.998 | D | 0.827 | P | . | . | 1.000 | D | 3.64 | H | 4.6 | T | -0.969 | T | 0.038 | T | 2.279 | 13.58 | 3.64 | 1.581 | 4.333 | 14.976 | 2.278753 | 2.278753 | 0 | 0 | 0.000254 | ID=COSM953891;OCCURENCE=1(endometrium) | NA | NA | 15.833292 |
10 | 5011081 | 5011081 | A | T | exonic | AKR1C1 | NA | nonsynonymous SNV | exonic | ENSG00000187134 | NA | nonsynonymous SNV | Score=487;Name=lod=127 | NA | 10p15.1 | Score=959;Name=V$MYOD_Q6 | Name=Pol2 | NA | NA | rs11474 | NA | NA | NA | NA | NA | NA | 0.00006589 | NA | 0.05 | D | 0.111 | B | 0.448 | P | 0.006 | N | 0.999 | D | 1.405 | L | 1.79 | T | -0.913 | T | 0.178 | T | 1.79 | 11.95 | 2.1 | 1.209 | 4.413 | 8.103 | 1.79043 | 1.79043 | 0.04 | NA | NA | NA | NA | NA | 15.8332675 |
12 | 56629033 | 56629033 | C | T | exonic | SLC39A5 | NA | nonsynonymous SNV | exonic | ENSG00000139540 | NA | nonsynonymous SNV | Score=615;Name=lod=421 | NA | 12q13.3 | NA | NA | NA | NA | rs147133811 | NA | NA | NA | NA | NA | NA | 0.00008886 | 0.0007 | 0 | D | 0.998 | D | 0.88 | P | 0.008 | N | 0.994 | D | 2.18 | M | 0.74 | T | -0.148 | T | 0.388 | T | 3.387 | 17.43 | 4.44 | 2.420 | 3.808 | 16.703 | 3.38651 | 3.38651 | 0 | 0 | 0.000681 | NA | NA | NA | 15.8332445 |
1 | 232942679 | 232942679 | T | C | exonic | MAP10 | NA | nonsynonymous SNV | exonic | ENSG00000212916 | NA | nonsynonymous SNV | Score=265;Name=lod=16 | NA | 1q42.2 | NA | NA | NA | NA | rs202096626 | NA | NA | NA | NA | NA | NA | 0.0005 | 0.0006 | 0 | D | 0.998 | D | 0.9 | P | 0.008 | U | 1.000 | D | 2.175 | M | . | . | -0.370 | T | 0.324 | T | 3.052 | 16.19 | 4.87 | 2.291 | 4.898 | 11.556 | 3.051735 | 3.051735 | 0 | 0.000613 | 0 | NA | NA | NA | 15.8322204 |
1 | 36553609 | 36553609 | G | A | exonic | TEKT2 | NA | nonsynonymous SNV | exonic | ENSG00000092850 | NA | nonsynonymous SNV | Score=539;Name=lod=207 | NA | 1p34.3 | NA | Name=Max | Name=5 | NA | rs141119805 | NA | NA | NA | NA | NA | NA | 0.0007 | 0.0007 | 0.39 | T | 0.997 | D | 0.728 | P | 0.003 | N | 0.987 | D | 1.305 | L | 4.31 | T | -0.823 | T | 0.017 | T | 4.411 | 23.4 | 4.95 | 2.266 | 2.984 | 17.793 | 4.411327 | 4.411327 | 0.59 | 0.000698 | 0 | NA | NA | NA | 15.8319354 |
14 | 91357007 | 91357007 | C | T | exonic | RPS6KA5 | NA | nonsynonymous SNV | exonic | ENSG00000100784 | NA | nonsynonymous SNV | Score=563;Name=lod=258 | NA | 14q32.11 | NA | NA | NA | NA | rs55911249 | 0.000998403 | 0.002 | NA | 0.0043 | NA | NA | 0.0021 | 0.0028 | 0.04 | D | 0.994 | D | 0.831 | P | 0.000 | D | 1.000 | D | 1.005 | L | -0.08 | T | -0.481 | T | 0.300 | T | 5 | 29.4 | 5.45 | 2.535 | 7.780 | 19.284 | 4.999614 | 4.999614 | 0.08 | 0.001977 | 0.000681 | NA | NA | NA | 15.8272564 |
11 | 58170712 | 58170712 | C | T | exonic | OR5B3 | NA | nonsynonymous SNV | exonic | ENSG00000172769 | NA | nonsynonymous SNV | Score=468;Name=lod=106 | NA | 11q12.1 | NA | NA | NA | NA | rs138976101 | 0.000998403 | 0.005 | NA | NA | NA | NA | 0.0029 | 0.01 | 0 | D | 0.98 | D | 0.782 | P | 0.016 | N | 0.998 | D | 3.945 | H | 2.99 | T | -0.705 | T | 0.084 | T | 3.179 | 16.64 | 4.19 | 2.338 | 4.651 | 15.583 | 3.17872 | 3.17872 | 0 | 0.005122 | 0.001817 | NA | NA | NA | 15.8203114 |
10 | 73055607 | 73055607 | G | A | exonic | UNC5B | NA | nonsynonymous SNV | exonic | ENSG00000107731 | NA | nonsynonymous SNV | Score=613;Name=lod=412 | NA | 10q22.1 | Score=885;Name=V$ZID_01 | NA | NA | NA | rs61749231 | 0.00319489 | 0.006 | NA | 0.0086 | NA | 0.0041 | 0.0044 | 0.01 | 0.04 | D | 0.934 | P | 0.208 | B | 0.000 | D | 0.989 | D | 0.55 | N | 0.85 | T | -1.066 | T | 0.048 | T | 2.069 | 12.87 | 3.76 | 2.437 | 1.640 | 9.707 | 2.068509 | 2.068509 | 0.05 | 0.008605 | 0.001589 | NA | 0.007 | NA | 15.8143284 |
1 | 216108128 | 216108128 | T | C | exonic | USH2A | NA | nonsynonymous SNV | exonic | ENSG00000042781 | NA | nonsynonymous SNV | Score=374;Name=lod=44 | NA | 1q41 | NA | NA | NA | NA | rs111033394 | 0.00299521 | 0.0119 | NA | 0.0043 | NA | NA | 0.0038 | 0.01 | 0.3 | T | 0.919 | P | 0.375 | B | 0.000 | D | 1.000 | D | 2.125 | M | 2.71 | T | -0.994 | T | 0.031 | T | 3.126 | 16.45 | 5.81 | 2.210 | 3.793 | 12.071 | 3.125586 | 3.125586 | 0.09 | 0.004537 | 0.00227 | NA | NA | CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000041903.1;CLNDSDB=.;CLNDSDBID=. | 15.8130964 |
19 | 55693469 | 55693469 | C | T | exonic | PTPRH | NA | nonsynonymous SNV | exonic | ENSG00000080031 | NA | nonsynonymous SNV | Score=500;Name=lod=143 | NA | 19q13.42 | Score=959;Name=V$MYOD_Q6 | NA | NA | NA | rs45541434 | 0.00519169 | 0.0119 | NA | 0.013 | 0.0008 | 0.0041 | 0.0075 | 0.02 | 0.99 | T | 0.975 | D | 0.655 | P | 0.004 | N | 0.521 | D | -0.45 | N | -1.59 | D | -0.594 | T | 0.154 | T | 3.685 | 18.72 | 3.82 | 1.196 | 1.793 | 8.962 | 3.684827 | 3.684827 | 0.21 | 0.009186 | 0.003404 | NA | 0.007 | NA | 15.8047474 |
1 | 27686399 | 27686399 | G | T | exonic | MAP3K6 | NA | nonsynonymous SNV | exonic | ENSG00000142733 | NA | nonsynonymous SNV | Score=620;Name=lod=442 | NA | 1p36.11 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.03 | D | 0.906 | P | 0.542 | P | . | . | 0.991 | D | 0.565 | N | -0.08 | T | -0.769 | T | 0.177 | T | 3.813 | 19.36 | 5.03 | 2.610 | 5.201 | 12.037 | 3.812996 | 3.812996 | NA | NA | NA | NA | NA | NA | 15.3333334 |
6 | 38810663 | 38810663 | A | C | exonic | DNAH8 | NA | nonsynonymous SNV | exonic | ENSG00000124721 | NA | nonsynonymous SNV | Score=593;Name=lod=343 | NA | 6p21.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.04 | D | 0.1 | B | 0.279 | B | 0.001 | D | 0.995 | N | 3.18 | M | 0.05 | T | -0.656 | T | 0.242 | T | 1.998 | 12.64 | 5.12 | 2.047 | 6.176 | 9.721 | 1.998387 | 1.998387 | 0.02 | NA | NA | NA | NA | NA | 15.3333334 |
17 | 38560731 | 38560731 | C | T | exonic | TOP2A | NA | nonsynonymous SNV | exonic | ENSG00000131747 | NA | nonsynonymous SNV | Score=459;Name=lod=98 | NA | 17q21.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00004198 | NA | 0.01 | D | 0.273 | B | 0.23 | B | 0.000 | D | 1.000 | D | 1.745 | L | 1.93 | T | -1.046 | T | 0.090 | T | 4.064 | 20.9 | 5.5 | 2.592 | 7.760 | 19.383 | 4.064383 | 4.064383 | 0.03 | NA | NA | NA | NA | NA | 15.3332914 |
2 | 160706630 | 160706630 | G | A | exonic | LY75,LY75-CD302 | NA | nonsynonymous SNV | exonic | ENSG00000054219,ENSG00000248672 | NA | nonsynonymous SNV | Score=431;Name=lod=75 | NA | 2q24.2 | Score=949;Name=V$CETS1P54_01 | NA | NA | NA | rs145262865 | 0.000199681 | NA | 0.001 | NA | NA | NA | 0.00002491 | 0.0017 | 0.1 | T | 1.0 | D | 0.999 | D | 0.005 | U | 1.000 | D | 1.825 | L | 2.21 | T | -1.107 | T | 0.107 | T | 3.637 | 18.5 | 5.54 | 2.609 | 4.305 | 16.373 | 3.636931 | 3.636931 | 0.01 | 0.000116 | 0.000227 | ID=COSM1008195;OCCURENCE=1(endometrium) | NA | NA | 15.3331925 |
18 | 77659045 | 77659045 | G | C | exonic | KCNG2 | NA | nonsynonymous SNV | exonic | ENSG00000178342 | NA | nonsynonymous SNV | Score=679;Name=lod=765 | NA | 18q23 | NA | NA | NA | NA | rs200870939 | NA | NA | NA | NA | NA | NA | 0.0002 | 0.0001 | 0.34 | T | 0.793 | P | 0.459 | P | 0.120 | U | 1.000 | D | 2.045 | M | -4.42 | D | 0.434 | D | 0.834 | D | 1.849 | 12.14 | 1.31 | 0.638 | 1.858 | 4.322 | 1.849026 | 1.849026 | 0.09 | 0.000116 | 0 | NA | NA | NA | 15.3330174 |
3 | 49147760 | 49147760 | C | T | exonic | USP19 | NA | nonsynonymous SNV | exonic | ENSG00000172046 | NA | nonsynonymous SNV | Score=602;Name=lod=374 | NA | 3p21.31 | NA | NA | NA | NA | rs185755099 | 0 | NA | NA | NA | NA | NA | 0.0003 | 0.01 | 0.17 | T | 0.999 | D | 0.997 | D | 0.000 | D | 1.000 | D | 1.24 | L | 1.4 | T | -0.967 | T | 0.136 | T | 4.869 | 27.9 | 5.67 | 2.666 | 7.476 | 19.763 | 4.86895 | 4.86895 | 0.03 | 0.000236 | 0 | NA | NA | NA | 15.3327974 |
3 | 38049774 | 38049774 | C | A | exonic | PLCD1 | NA | nonsynonymous SNV | exonic | ENSG00000187091 | NA | nonsynonymous SNV | Score=340;Name=lod=32 | NA | 3p22.2 | NA | NA | NA | NA | rs78426951 | 0.000399361 | 0.001 | NA | 0.0014 | NA | NA | 0.0009 | 0.0028 | 0.51 | T | 0.998 | D | 0.955 | D | 0.000 | D | 1.000 | D | 1.335 | L | -0.36 | T | -0.642 | T | 0.328 | T | 3.975 | 20.3 | 4.05 | 2.477 | 1.717 | 12.705 | 3.974526 | 3.974526 | 0.01 | 0.001395 | 0.000454 | NA | NA | NA | 15.3300384 |
12 | 4870233 | 4870233 | A | G | exonic | GALNT8 | NA | nonsynonymous SNV | exonic | ENSG00000130035 | NA | nonsynonymous SNV | Score=505;Name=lod=150 | NA | 12p13.32 | NA | NA | NA | NA | rs143807268 | 0.000798722 | 0.002 | 0.001 | NA | NA | 0.001 | 0.0009 | 0.0017 | 0 | D | 0.943 | P | 0.543 | P | 0.044 | N | 0.882 | D | 3.235 | M | 0.2 | T | -0.194 | T | 0.296 | T | 3.82 | 19.4 | 3.27 | 1.389 | 8.531 | 9.672 | 3.819813 | 3.819813 | 0 | 0.001744 | 0.001135 | NA | NA | NA | 15.3286894 |
7 | 38574539 | 38574539 | G | A | exonic | AMPH | NA | nonsynonymous SNV | exonic | ENSG00000078053 | NA | nonsynonymous SNV | Score=608;Name=lod=394 | NA | 7p14.1 | NA | NA | NA | NA | rs147234401 | 0.000399361 | 0.001 | NA | NA | 0.0008 | NA | 0.0012 | 0.0028 | 0 | D | 1.0 | D | 0.997 | D | 0.000 | D | 1.000 | D | 2.135 | M | -0.02 | T | -0.224 | T | 0.386 | T | 3.654 | 18.58 | -0.747 | -0.037 | 1.238 | 15.376 | 3.653729 | 3.653729 | 0 | 0.002791 | 0.000227 | ID=COSM1450618;OCCURENCE=1(large_intestine) | NA | NA | 15.3283424 |
7 | 143701389 | 143701389 | A | T | exonic | OR6B1 | NA | nonsynonymous SNV | exonic | ENSG00000221813 | NA | nonsynonymous SNV | Score=295;Name=lod=21 | NA | 7q35 | NA | NA | NA | NA | rs182442940 | 0.00259585 | 0.004 | NA | 0.0086 | 0.0015 | 0.001 | 0.0018 | 0.01 | 0 | D | 1.0 | D | 1.0 | D | 0.003 | U | 0.599 | D | 3.865 | H | 4.44 | T | -0.976 | T | 0.030 | T | 3.587 | 18.27 | -3.13 | -0.425 | -1.271 | 13.911 | 3.587495 | 3.587495 | 0 | 0.002107 | 0.001631 | NA | 0.007 | NA | 15.3254264 |
6 | 144184227 | 144184227 | A | C | exonic | LTV1 | NA | nonsynonymous SNV | exonic | ENSG00000135521 | NA | nonsynonymous SNV | Score=432;Name=lod=76 | NA | 6q24.2 | NA | NA | NA | NA | rs41285031 | 0.00179712 | 0.0089 | NA | NA | NA | NA | 0.0042 | 0.01 | 0.18 | T | 0.899 | P | 0.826 | P | 0.000 | D | 1.000 | D | 2.85 | M | . | . | -0.452 | T | 0.310 | T | 3.653 | 18.57 | 4.45 | 0.965 | 5.846 | 11.336 | 3.653331 | 3.653331 | 0.01 | 0.005698 | 0.000454 | NA | NA | NA | 15.3145354 |
16 | 23702246 | 23702246 | G | C | exonic | ERN2 | NA | nonsynonymous SNV | exonic | ENSG00000134398 | NA | nonsynonymous SNV | Score=401;Name=lod=57 | NA | 16p12.2 | NA | NA | NA | NA | rs56129167 | 0.00379393 | 0.007 | NA | 0.0072 | NA | 0.0072 | 0.0061 | 0.01 | 0 | D | 0.955 | P | 0.871 | P | 0.000 | D | 1.000 | D | 3.165 | M | 1.46 | T | -0.652 | T | 0.163 | T | 2.281 | 13.58 | 3.25 | 0.306 | 6.648 | 12.983 | 2.281059 | 2.281059 | 0.01 | 0.008605 | 0.001138 | NA | NA | NA | 15.3116284 |
1 | 29527028 | 29527028 | G | A | exonic | MECR | NA | nonsynonymous SNV | exonic | ENSG00000116353 | NA | nonsynonymous SNV | Score=531;Name=lod=191 | NA | 1p35.3 | Score=808;Name=V$TCF11MAFG_01 | NA | NA | NA | rs148978800 | 0.00179712 | 0.008 | NA | NA | 0.0008 | NA | 0.005 | 0.01 | 0.08 | T | 0.965 | D | 0.335 | B | 0.022 | N | 0.951 | D | 2.22 | M | 3.44 | T | -1.063 | T | 0.016 | T | 3.225 | 16.81 | 4.75 | 2.696 | 4.282 | 10.263 | 3.224512 | 3.224512 | 0.19 | 0.008721 | 0.000681 | ID=COSM908048;OCCURENCE=1(endometrium) | NA | NA | 15.3116124 |
9 | 15874585 | 15874585 | T | G | exonic | CCDC171 | NA | nonsynonymous SNV | exonic | ENSG00000164989 | NA | nonsynonymous SNV | Score=812;Name=lod=2661 | NA | 9p22.3 | NA | NA | NA | NA | rs149814894 | 0.00678914 | 0.0109 | NA | 0.0058 | NA | 0.0194 | 0.0095 | 0.01 | 0.12 | T | 1.0 | D | 0.999 | D | 0.000 | D | 1.000 | D | 0.805 | L | 2.14 | T | -0.907 | T | 0.142 | T | 3.602 | 18.34 | 5.74 | 2.205 | 5.172 | 16.105 | 3.602189 | 3.602189 | 0 | 0.007093 | 0.001135 | ID=COSM1235977,COSM1235976;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) | NA | NA | 15.3058404 |
16 | 341206 | 341206 | C | G | exonic | AXIN1 | NA | nonsynonymous SNV | exonic | ENSG00000103126 | NA | nonsynonymous SNV | Score=567;Name=lod=270 | NA | 16p13.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.39 | T | 0.501 | P | 0.086 | B | 0.000 | D | 1.000 | D | 1.39 | L | 0.19 | T | -0.948 | T | 0.131 | T | 1.519 | 11.03 | 3.57 | 1.836 | 3.574 | 14.066 | 1.519165 | 1.519165 | 0.43 | NA | NA | NA | NA | NA | 14.8333334 |
20 | 17600316 | 17600316 | T | C | exonic | RRBP1 | NA | nonsynonymous SNV | exonic | ENSG00000125844 | NA | nonsynonymous SNV | NA | NA | 20p12.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.11 | T | 0.989 | D | 0.889 | P | 0.000 | D | 0.999 | N | 2.19 | M | 2.04 | T | -0.946 | T | 0.152 | T | 2.496 | 14.31 | 4.75 | 1.048 | 2.772 | 10.79 | 2.495797 | 2.495797 | 0.01 | NA | NA | NA | NA | NA | 14.8333334 |
11 | 119243493 | 119243493 | C | T | exonic | USP2 | NA | nonsynonymous SNV | exonic | ENSG00000036672 | NA | nonsynonymous SNV | Score=309;Name=lod=24 | NA | 11q23.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00002701 | NA | 0.07 | T | 0.998 | D | 0.743 | P | 0.049 | N | 1.000 | D | 0.345 | N | 2.14 | T | -1.102 | T | 0.057 | T | 2.721 | 15.06 | 5.37 | 2.501 | 1.679 | 16.265 | 2.720804 | 2.720804 | 0 | NA | NA | NA | NA | NA | 14.8333064 |
4 | 110618781 | 110618781 | C | T | exonic | CASP6 | NA | nonsynonymous SNV | exonic | ENSG00000138794 | NA | nonsynonymous SNV | Score=358;Name=lod=38 | NA | 4q25 | NA | NA | NA | NA | rs377499378 | NA | NA | NA | NA | NA | NA | 0.00003395 | 0.0001 | 0.01 | D | 0.72 | P | 0.234 | B | 0.000 | D | 1.000 | D | 1.8 | L | 1.89 | T | -1.063 | T | 0.068 | T | 2.587 | 14.61 | 4.3 | 1.561 | 1.325 | 8.445 | 2.587369 | 2.587369 | 0.06 | 0.000116 | 0 | NA | NA | NA | 14.8331835 |
14 | 64610629 | 64610629 | G | A | exonic | SYNE2 | NA | nonsynonymous SNV | exonic | ENSG00000054654 | NA | nonsynonymous SNV | Score=561;Name=lod=253 | NA | 14q23.2 | NA | NA | NA | NA | rs142206385 | 0.000399361 | NA | 0.001 | NA | 0.0008 | NA | 0.0002 | 0.002 | 0.03 | D | 0.763 | P | 0.143 | B | 0.013 | N | 1.000 | D | 2.395 | M | 1.31 | T | -0.906 | T | 0.120 | T | 2.792 | 15.3 | 4.44 | 1.240 | 3.926 | 7.484 | 2.791982 | 2.791982 | 0 | 0.000349 | 0 | NA | NA | NA | 14.8327844 |
1 | 235324212 | 235324212 | G | A | exonic | RBM34 | NA | nonsynonymous SNV | exonic | ENSG00000188739 | NA | nonsynonymous SNV | NA | NA | 1q42.3 | NA | Name=Sin3Ak-20,CHD2_(N-1250),Pol2 | Name=115 | NA | rs184349413 | 0.00179712 | 0.001 | NA | 0.0086 | 0.0015 | NA | 0.0004 | 0.01 | 0.2 | T | 0.969 | D | 0.691 | P | 0.001 | N | 0.687 | N | 2.215 | M | 2.35 | T | -1.091 | T | 0.057 | T | 3.959 | 20.3 | 3.17 | 1.287 | 2.429 | 8.907 | 3.959016 | 3.959016 | 0.01 | 0.000364 | 0.000785 | NA | NA | NA | 14.8315694 |
13 | 39262826 | 39262826 | C | G | exonic | FREM2 | NA | nonsynonymous SNV | exonic | ENSG00000150893 | NA | nonsynonymous SNV | Score=496;Name=lod=138 | NA | 13q13.3 | NA | NA | NA | NA | rs190063725 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.0001 | 0.0013 | 0.25 | T | 0.988 | D | 0.751 | P | 0.000 | D | 1.000 | D | 0.93 | L | 1.71 | T | -1.141 | T | 0.087 | T | 2.633 | 14.77 | 5.6 | 2.648 | 2.597 | 19.623 | 2.633404 | 2.633404 | 0.13 | NA | NA | NA | NA | NA | 14.8312334 |
7 | 23383339 | 23383339 | T | C | exonic | IGF2BP3 | NA | nonsynonymous SNV | exonic | ENSG00000136231 | NA | nonsynonymous SNV | Score=630;Name=lod=484 | NA | 7p15.3 | NA | NA | NA | NA | rs150697725 | 0.00139776 | 0.003 | 0.001 | NA | NA | 0.0031 | 0.0016 | 0.004 | 0.4 | T | 0.57 | P | 0.196 | B | 0.000 | D | 1.000 | D | 2.085 | M | 2.47 | T | -1.107 | T | 0.051 | T | 3.433 | 17.61 | 5.64 | 2.145 | 6.155 | 15.862 | 3.432779 | 3.432779 | 0.2 | 0.001977 | 0.000227 | NA | NA | NA | 14.8267564 |
7 | 76903907 | 76903907 | C | T | exonic | CCDC146 | NA | nonsynonymous SNV | exonic | ENSG00000135205 | NA | nonsynonymous SNV | NA | NA | 7q11.23 | Score=824;Name=V$BACH1_01 | NA | NA | NA | rs148164233 | 0.00419329 | 0.003 | 0.001 | NA | NA | 0.0174 | 0.0037 | 0.004 | 0.03 | D | 0.99 | D | 0.727 | P | 0.001 | D | 0.997 | N | 1.39 | L | 1.04 | T | -0.903 | T | 0.169 | T | 1.23 | 9.989 | 5.71 | 2.698 | 4.057 | 19.430 | 1.230341 | NA | 0 | 0.002558 | 0.000681 | NA | NA | NA | 14.8240754 |
6 | 161491684 | 161491684 | G | T | exonic | MAP3K4 | NA | nonsynonymous SNV | exonic | ENSG00000085511 | NA | nonsynonymous SNV | NA | NA | 6q26 | NA | NA | Name=2 | NA | rs34018542 | 0.000798722 | 0.001 | NA | 0.0029 | 0.0008 | NA | 0.0029 | 0.0056 | 0.04 | D | 0.974 | D | 0.646 | P | 0.000 | D | 0.749 | N | 1.59 | L | 2.22 | T | -1.105 | T | 0.030 | T | 1.105 | 9.51 | 4.69 | 1.363 | 3.268 | 9.976 | 1.105499 | NA | 0.01 | 0.005581 | 0.000908 | NA | NA | NA | 14.8238524 |
9 | 79323853 | 79323853 | C | T | exonic | PRUNE2 | NA | nonsynonymous SNV | exonic | ENSG00000106772 | NA | nonsynonymous SNV | NA | NA | 9q21.2 | NA | NA | NA | NA | rs200875180 | 0.000998403 | 0.005 | NA | NA | NA | NA | 0.0038 | 0.0038 | 0 | D | 1.0 | D | 0.829 | P | 0.000 | D | 1.000 | D | 0.975 | L | 0.31 | T | -0.885 | T | 0.201 | T | 2.621 | 14.72 | 5.94 | 2.826 | 4.165 | 14.954 | 2.620639 | 2.620639 | 0 | 0.003769 | 0.000319 | NA | NA | NA | 14.8207644 |
19 | 35790493 | 35790493 | C | T | exonic | MAG | NA | nonsynonymous SNV | exonic | ENSG00000105695 | NA | nonsynonymous SNV | Score=501;Name=lod=145 | NA | 19q13.12 | NA | NA | NA | NA | rs144553163 | 0.00239617 | 0.005 | NA | 0.0014 | 0.0008 | 0.0051 | 0.0044 | 0.01 | 1 | T | 0.98 | D | 0.79 | P | 0.000 | D | 0.919 | D | 1.245 | L | -1.0 | T | -0.510 | T | 0.274 | T | 3.859 | 19.6 | 4.57 | 2.361 | 1.742 | 14.866 | 3.858571 | 3.858571 | 0.03 | 0.004302 | 0.002497 | NA | NA | NA | 14.8196314 |
12 | 49498284 | 49498284 | T | G | exonic | LMBR1L | NA | nonsynonymous SNV | exonic | ENSG00000139636 | NA | nonsynonymous SNV | Score=622;Name=lod=449 | NA | 12q13.12 | NA | NA | NA | NA | rs35343771 | 0.00159744 | 0.005 | 0.001 | 0.0029 | NA | NA | 0.0044 | 0.0048 | 1 | T | 0.91 | P | 0.909 | D | 0.000 | D | 1.000 | D | 0.8 | N | 2.07 | T | -1.118 | T | 0.068 | T | 3.026 | 16.1 | 6.07 | 2.326 | 8.005 | 15.611 | 3.025943 | 3.025943 | 0.55 | 0.004767 | 0.001589 | NA | NA | NA | 14.8191664 |
6 | 35285719 | 35285719 | A | C | exonic | DEF6 | NA | nonsynonymous SNV | exonic | ENSG00000023892 | NA | nonsynonymous SNV | Score=371;Name=lod=43 | NA | 6p21.31 | NA | Name=c-Myc,HA-E2F1,CTCF | Name=127 | NA | rs61734579 | 0.00479233 | 0.0189 | NA | 0.0072 | NA | NA | 0.0088 | 0.02 | 0.06 | T | 0.985 | D | 0.67 | P | 0.001 | D | 1.000 | N | 0.64 | N | 2.64 | T | -1.102 | T | 0.033 | T | 4.619 | 25.3 | 2.83 | 0.869 | 1.349 | 8.701 | 4.618935 | 4.618935 | 0.05 | 0.00907 | 0.001816 | NA | NA | NA | 14.7965634 |
6 | 42977092 | 42977092 | T | C | exonic | PPP2R5D | NA | synonymous SNV | exonic | ENSG00000112640 | NA | synonymous SNV | Score=606;Name=lod=386 | NA | 6p21.1 | Score=909;Name=V$SOX9_B1 | Name=Rad21,CTCF,SMC3_(ab9263),CTCF_(SC-5916),CTCFL_(SC-98982),CTCF_(C-20),ZNF263 | Name=87 | NA | rs114970216 | 0.00119808 | 0.005 | NA | 0.0014 | NA | NA | 0.0048 | 0.011 | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | . | . | . | . | 0.714 | 7.805 | -6.84 | -1.363 | -1.143 | 18.214 | 0.714379 | NA | NA | 0.007209 | 0.002724 | NA | 0.014 | NA | 14.6496576 |
17 | 49072486 | 49072486 | C | T | exonic | SPAG9 | NA | nonsynonymous SNV | exonic | ENSG00000008294 | NA | nonsynonymous SNV | Score=325;Name=lod=28 | NA | 17q21.33 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.03 | D | 0.449 | B | 0.265 | B | 0.001 | N | 1.000 | D | 1.75 | L | 1.88 | T | -1.067 | T | 0.087 | T | 4.233 | 22 | 5.59 | 2.621 | 7.135 | 19.596 | 4.2328 | 4.2328 | 0.01 | NA | NA | NA | NA | NA | 14.3333334 |
4 | 126373317 | 126373317 | C | T | exonic | FAT4 | NA | nonsynonymous SNV | exonic | ENSG00000196159 | NA | nonsynonymous SNV | Score=343;Name=lod=33 | NA | 4q28.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001647 | NA | 0.01 | D | 0.219 | B | 0.034 | B | 0.003 | U | 1.000 | D | 1.845 | L | 0.53 | T | -0.862 | T | 0.156 | T | 2.938 | 15.79 | 4.92 | 1.445 | 4.651 | 14.756 | 2.937846 | 2.937846 | 0 | NA | NA | ID=COSM232313,COSM232312;OCCURENCE=2(skin) | NA | NA | 14.3333169 |
8 | 22267473 | 22267473 | T | G | exonic | SLC39A14 | NA | nonsynonymous SNV | exonic | ENSG00000104635 | NA | nonsynonymous SNV | Score=568;Name=lod=272 | NA | 8p21.3 | Score=836;Name=V$RREB1_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001648 | NA | 0.28 | T | 0.007 | B | 0.039 | B | . | . | 1.000 | D | . | . | 0.9 | T | -1.077 | T | 0.073 | T | 2.572 | 14.56 | 4.08 | 0.995 | 3.230 | 6.333 | 2.571512 | 2.571512 | 0.3 | NA | NA | NA | NA | NA | 14.3333169 |
9 | 95263039 | 95263039 | T | C | exonic | ECM2 | NA | nonsynonymous SNV | exonic | ENSG00000106823 | NA | nonsynonymous SNV | Score=568;Name=lod=272 | NA | 9q22.31 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001655 | NA | 0.46 | T | 0.158 | B | 0.065 | B | 0.000 | D | 1.000 | D | -0.93 | N | 0.72 | T | -1.061 | T | 0.043 | T | 1.868 | 12.2 | 3.96 | 2.058 | 3.539 | 9.821 | 1.867649 | 1.867649 | 0.51 | NA | NA | NA | NA | NA | 14.3333168 |
7 | 26224829 | 26224829 | C | G | exonic | NFE2L3 | NA | nonsynonymous SNV | exonic | ENSG00000050344 | NA | nonsynonymous SNV | NA | NA | 7p15.2 | NA | Name=RXRA,Pol2,Pol2-4H8 | Name=52 | NA | rs143155770 | NA | NA | NA | NA | NA | NA | 0.00004942 | 0.0013 | 0.02 | D | 0.083 | B | 0.024 | B | 0.095 | N | 1.000 | N | 2.165 | M | 1.39 | T | -0.952 | T | 0.123 | T | 2.739 | 15.12 | 5.13 | 2.564 | 1.796 | 18.960 | 2.73945 | 2.73945 | 0.01 | 0.000233 | 0 | NA | NA | NA | 14.333051 |
14 | 105353232 | 105353232 | A | G | exonic | CEP170B | NA | nonsynonymous SNV | exonic | ENSG00000099814 | NA | nonsynonymous SNV | Score=278;Name=lod=18 | NA | 14q32.33 | NA | NA | NA | NA | rs373327078 | NA | NA | NA | NA | NA | NA | 0.00004316 | 0.0002 | 0.02 | D | 0.985 | D | 0.952 | D | 0.000 | N | 1.000 | D | 1.655 | L | 0.4 | T | -0.652 | T | 0.262 | T | 1.781 | 11.92 | 2.15 | 0.592 | 3.784 | 7.858 | 1.781197 | 1.781197 | 0 | 0.000243 | 0 | NA | NA | NA | 14.3330472 |
1 | 159410402 | 159410402 | C | T | exonic | OR10J1 | NA | nonsynonymous SNV | exonic | ENSG00000196184 | NA | nonsynonymous SNV | NA | NA | 1q23.2 | NA | NA | NA | NA | rs144480627 | 0.000399361 | NA | NA | NA | 0.0015 | NA | 0.0003 | 0.0018 | 0 | D | 1.0 | D | 0.99 | D | 0.004 | N | 1.000 | N | 2.925 | M | 8.39 | T | -1.040 | T | 0.001 | T | 3.114 | 16.41 | 3.51 | 1.189 | 3.629 | 10.227 | 3.114426 | 3.114426 | 0 | 0 | 0.001816 | NA | NA | NA | 14.3330334 |
17 | 44248783 | 44248783 | G | T | exonic | KANSL1 | NA | nonsynonymous SNV | exonic | ENSG00000120071 | NA | nonsynonymous SNV | Score=472;Name=lod=110 | NA | 17q21.31 | Score=767;Name=V$STAT3_01 | NA | NA | NA | rs142096969 | 0.000798722 | 0.001 | NA | 0.0043 | NA | NA | 0.0018 | 0.0024 | 0.5 | T | 0.103 | B | 0.058 | B | 0.000 | D | 1.000 | D | 0.345 | N | 2.72 | T | -0.977 | T | 0.022 | T | 1.556 | 11.16 | 6.04 | 2.873 | 2.286 | 13.678 | 1.556207 | 1.556207 | 0.47 | 0.002442 | 0.000227 | NA | NA | NA | 14.3280914 |
8 | 110131553 | 110131553 | G | A | exonic | TRHR | NA | nonsynonymous SNV | exonic | ENSG00000174417 | NA | nonsynonymous SNV | Score=426;Name=lod=72 | NA | 8q23.1 | Score=912;Name=V$TCF11_01 | NA | NA | NA | rs147019235 | 0.000798722 | 0.003 | NA | NA | 0.0008 | NA | 0.0021 | 0.004 | 0.28 | T | 0.448 | B | 0.091 | B | 0.000 | N | 1.000 | D | 2.22 | M | -0.23 | T | -0.689 | T | 0.247 | T | 3.02 | 16.07 | 4.93 | 1.471 | 4.569 | 14.268 | 3.02009 | 3.02009 | 0.03 | 0.001861 | 0.002497 | NA | NA | NA | 14.3263724 |
14 | 96730313 | 96730313 | G | A | exonic | BDKRB1 | NA | stopgain | exonic | ENSG00000100739 | NA | stopgain | NA | NA | 14q32.2 | Score=837;Name=V$GRE_C | Name=c-Myc,HA-E2F1 | Name=4 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.1 | T | . | . | . | . | 0.784 | U | 1.000 | A | . | . | . | . | . | . | . | . | 4.949 | 28.8 | 3.49 | 0.616 | -0.154 | 6.591 | 4.948566 | 4.948566 | 0.57 | NA | NA | NA | NA | NA | 14 |
1 | 145606274 | 145606274 | C | T | splicing | POLR3C | NM_006468:exon6:c.678+1G>A | NA | splicing | ENSG00000186141 | ENST00000334163:exon6:c.678+1G>A,ENST00000369294:exon6:c.678+1G>A | NA | Score=355;Name=lod=37 | NA | 1q21.1 | NA | Name=GATA-1 | Name=3 | NA | NA | NA | NA | NA | NA | NA | NA | 0.00005772 | NA | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | . | . | . | . | 3.79 | 19.24 | 4.96 | 1.485 | 4.254 | 10.815 | 3.79044 | 3.79044 | NA | NA | NA | NA | NA | NA | 13.9999423 |
19 | 55677895 | 55677895 | A | C | exonic | DNAAF3 | NA | nonsynonymous SNV | exonic | ENSG00000167646 | NA | nonsynonymous SNV | Score=336;Name=lod=31 | NA | 19q13.42 | NA | Name=STAT3,NF-YA,Pol2,NF-YB,E2F6_(H-50) | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008294 | NA | 0.04 | D | 0.729 | P | 0.354 | B | 0.890 | N | 1.000 | D | 0.69 | N | 2.05 | T | -1.092 | T | 0.040 | T | 1.47 | 10.86 | 2.91 | 0.864 | 0.427 | 5.976 | 1.469847 | 1.469847 | 0 | NA | NA | NA | NA | NA | 13.8333251 |
16 | 2150254 | 2150254 | G | A | exonic | PKD1 | NA | nonsynonymous SNV | exonic | ENSG00000008710 | NA | nonsynonymous SNV | Score=544;Name=lod=217 | NA | 16p13.3 | NA | NA | NA | NA | rs147967021 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.00009404 | 0.0028 | 0 | D | 0.891 | P | 0.283 | B | 0.002 | N | 0.998 | D | 1.265 | L | -0.24 | T | -0.685 | T | 0.188 | T | 2.133 | 13.09 | 4.69 | 2.424 | 2.193 | 10.831 | 2.133364 | 2.133364 | 0 | NA | NA | NA | NA | NA | 13.8332394 |
6 | 109954427 | 109954427 | C | T | exonic | AK9 | NA | nonsynonymous SNV | exonic | ENSG00000155085 | NA | nonsynonymous SNV | Score=414;Name=lod=64 | NA | 6q21 | NA | NA | NA | NA | rs200088189 | 0.000399361 | NA | NA | NA | NA | 0.002 | 0.0001 | NA | . | . | 0.536 | P | 0.246 | B | 0.000 | D | 1.000 | D | 1.15 | L | -0.04 | T | -1.005 | T | 0.099 | T | 2.271 | 13.55 | 4.8 | 1.389 | 2.106 | 12.515 | 2.271427 | 2.271427 | 0.02 | NA | NA | NA | NA | NA | 13.8332334 |
15 | 70949424 | 70949424 | T | C | exonic | UACA | NA | nonsynonymous SNV | exonic | ENSG00000137831 | NA | nonsynonymous SNV | Score=595;Name=lod=350 | NA | 15q23 | NA | NA | NA | NA | rs143220817 | NA | NA | NA | NA | NA | NA | 0.00008257 | 0.0002 | 0.04 | D | 0.783 | P | 0.205 | B | 0.043 | N | 1.000 | D | 1.61 | L | 1.58 | T | -0.963 | T | 0.103 | T | 3.457 | 17.71 | 5.5 | 2.216 | 5.765 | 15.914 | 3.456784 | 3.456784 | 0 | 0.000116 | 0.000227 | NA | NA | NA | 13.8331348 |
14 | 93649713 | 93649713 | T | C | exonic | MOAP1 | NA | nonsynonymous SNV | exonic | ENSG00000165943 | NA | nonsynonymous SNV | Score=329;Name=lod=29 | NA | 14q32.12 | Score=926;Name=V$AP1_C | NA | Name=4 | NA | rs74075220 | 0.00758786 | 0.001 | NA | 0.0043 | 0.0257 | NA | 0.0026 | 0.03 | 0.2 | T | 0.784 | P | 0.391 | B | . | . | 0.964 | N | 1.445 | L | 2.88 | T | -1.065 | T | 0.011 | T | 1.711 | 11.68 | 3.45 | 1.816 | 2.514 | 8.672 | 1.710811 | 1.710811 | 0.15 | 0.001163 | 0.015433 | NA | 0.022 | NA | 13.8285704 |
15 | 78295765 | 78295765 | T | C | exonic | TBC1D2B | NA | nonsynonymous SNV | exonic | ENSG00000167202 | NA | nonsynonymous SNV | Score=461;Name=lod=100 | NA | 15q24.3 | NA | NA | NA | NA | rs138988358 | 0.00359425 | 0.005 | NA | 0.0029 | 0.0083 | NA | 0.0018 | 0.01 | 0.11 | T | 0.642 | P | 0.412 | B | 0.000 | D | 1.000 | D | 1.005 | L | 2.0 | T | -0.892 | T | 0.147 | T | 2.462 | 14.19 | 5.29 | 1.988 | 6.116 | 14.405 | 2.462446 | 2.462446 | 0.01 | 0.001514 | 0.004326 | NA | NA | NA | 13.8250194 |
10 | 3141542 | 3141542 | G | A | exonic | PFKP | NA | nonsynonymous SNV | exonic | ENSG00000067057 | NA | nonsynonymous SNV | Score=476;Name=lod=115 | NA | 10p15.2 | NA | Name=STAT3,CEBPB | Name=93 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.07 | T | 0.063 | B | 0.069 | B | 0.010 | N | 1.000 | D | -0.255 | N | -1.35 | T | -0.879 | T | 0.222 | T | 3.061 | 16.22 | 0.519 | 0.060 | 2.311 | 10.329 | 3.061138 | 3.061138 | 0.42 | NA | NA | NA | NA | NA | 13.3333334 |
12 | 57863479 | 57863479 | C | G | exonic | GLI1 | NA | nonsynonymous SNV | exonic | ENSG00000111087 | NA | nonsynonymous SNV | Score=461;Name=lod=100 | NA | 12q13.3 | Score=688;Name=V$BRACH_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1 | T | 0.005 | B | 0.031 | B | 0.039 | N | 0.995 | N | -0.235 | N | 2.79 | T | -0.942 | T | 0.013 | T | 1.048 | 9.281 | 3.73 | 1.296 | 1.427 | 6.867 | 1.048264 | NA | 0.23 | NA | NA | NA | NA | NA | 13.3333334 |
13 | 75900394 | 75900394 | C | T | exonic | TBC1D4 | NA | nonsynonymous SNV | exonic | ENSG00000136111 | NA | nonsynonymous SNV | Score=300;Name=lod=22 | NA | 13q22.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.55 | T | 0.015 | B | 0.009 | B | 0.089 | N | 1.000 | D | 1.175 | L | 0.91 | T | -1.077 | T | 0.079 | T | 2.431 | 14.09 | 4.64 | 1.446 | 2.833 | 11.345 | 2.431135 | 2.431135 | 0.4 | NA | NA | NA | NA | NA | 13.3333334 |
17 | 77078115 | 77078115 | C | A | exonic | ENGASE | NA | nonsynonymous SNV | exonic | ENSG00000167280 | NA | nonsynonymous SNV | NA | NA | 17q25.3 | Score=851;Name=V$ARNT_01 | Name=Egr-1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | . | . | 0.068 | B | 0.038 | B | 0.046 | N | 0.999 | N | 1.155 | L | . | . | -1.057 | T | 0.046 | T | -0.085 | 3.584 | -7.57 | -1.356 | -3.209 | 1.142 | -0.085074 | NA | 0.23 | NA | NA | NA | NA | NA | 13.3333334 |
6 | 32036743 | 32036743 | C | T | exonic | TNXB | NA | nonsynonymous SNV | exonic | ENSG00000168477 | NA | nonsynonymous SNV | NA | NA | 6p21.33 | Score=793;Name=V$CDPCR3_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008655 | NA | 0.14 | T | 0.926 | P | 0.638 | P | 0.007 | N | 0.999 | N | 1.65 | L | 3.64 | T | -0.979 | T | 0.010 | T | 2.557 | 14.51 | 4.07 | 1.226 | 1.769 | 8.106 | 2.557304 | 2.557304 | 0 | NA | NA | NA | NA | NA | 13.3333247 |
12 | 129293353 | 129293353 | A | G | exonic | SLC15A4 | NA | nonsynonymous SNV | exonic | ENSG00000139370 | NA | nonsynonymous SNV | Score=498;Name=lod=141 | NA | 12q24.32 | Score=796;Name=V$PAX2_01 | NA | NA | NA | rs189625027 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.0000165 | 0.0028 | 0.31 | T | 0.001 | B | 0.004 | B | 0.000 | N | 1.000 | D | 1.35 | L | 3.85 | T | -1.020 | T | 0.124 | T | 2.907 | 15.69 | 4.32 | 0.983 | 6.555 | 11.840 | 2.906903 | 2.906903 | 0.27 | NA | NA | NA | NA | NA | 13.3333169 |
17 | 6483131 | 6483131 | T | C | exonic | KIAA0753 | NA | nonsynonymous SNV | exonic | ENSG00000198920 | NA | nonsynonymous SNV | Score=313;Name=lod=25 | NA | 17p13.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001657 | NA | 0.31 | T | 0.008 | B | 0.009 | B | 0.001 | N | 0.592 | D | 1.5 | L | 0.97 | T | -0.983 | T | 0.082 | T | 3.359 | 17.32 | 3.22 | 1.008 | 2.671 | 7.931 | 3.35874 | 3.35874 | 0.15 | NA | NA | NA | NA | NA | 13.3333168 |
20 | 51870120 | 51870120 | A | T | exonic | TSHZ2 | NA | nonsynonymous SNV | exonic | ENSG00000182463 | NA | nonsynonymous SNV | NA | NA | 20q13.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001662 | NA | 0.04 | D | 0.001 | B | 0.001 | B | 0.000 | D | 0.998 | N | 1.61 | L | 2.49 | T | -1.088 | T | 0.026 | T | 0.315 | 5.706 | -6.08 | -1.856 | -1.194 | 11.778 | 0.314831 | NA | 0.02 | NA | NA | NA | NA | NA | 13.3333168 |
17 | 10547753 | 10547753 | G | A | exonic | MYH3 | NA | nonsynonymous SNV | exonic | ENSG00000109063 | NA | nonsynonymous SNV | Score=521;Name=lod=174 | NA | 17p13.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00003295 | NA | 0.27 | T | 0.003 | B | 0.008 | B | . | . | 0.646 | N | 0.91 | L | -2.28 | D | -0.326 | T | 0.453 | T | 1.496 | 10.95 | 4.5 | 2.496 | 3.328 | 11.758 | 1.495821 | 1.495821 | NA | NA | NA | NA | NA | NA | 13.3333004 |
X | 2833643 | 2833643 | C | A | exonic | ARSD | NA | nonsynonymous SNV | exonic | ENSG00000006756 | NA | nonsynonymous SNV | NA | NA | Xp22.33 | NA | NA | Name=4 | NA | rs115332247 | NA | NA | NA | NA | NA | NA | 0.0001 | NA | 0.06 | T | 0.005 | B | 0.02 | B | 0.914 | N | 1.000 | P | 1.39 | L | -3.26 | D | -0.434 | T | 0.591 | D | 0.787 | 8.15 | -6.79 | -1.408 | -2.691 | 2.444 | 0.787191 | NA | 0.06 | NA | NA | ID=COSM1467377;OCCURENCE=1(large_intestine) | NA | NA | 13.3332334 |
6 | 17794837 | 17794837 | T | C | exonic | KIF13A | NA | nonsynonymous SNV | exonic | ENSG00000137177 | NA | nonsynonymous SNV | Score=456;Name=lod=95 | NA | 6p22.3 | NA | NA | NA | NA | rs201793412 | NA | NA | NA | NA | NA | NA | 0.0001 | 0.0002 | 0.13 | T | 0.14 | B | 0.247 | B | 0.000 | D | 1.000 | D | 1.895 | L | 1.21 | T | -0.649 | T | 0.257 | T | 3.336 | 17.23 | 5.55 | 2.233 | 5.030 | 15.984 | 3.336158 | 3.336158 | 0.07 | 0.000242 | 0 | NA | NA | NA | 13.3329914 |
12 | 2907914 | 2907914 | G | A | exonic | FKBP4 | NA | nonsynonymous SNV | exonic | ENSG00000004478 | NA | nonsynonymous SNV | Score=389;Name=lod=51 | NA | 12p13.33 | NA | NA | NA | NA | rs191293085 | 0.000599042 | 0.002 | NA | 0.0014 | NA | NA | 0.0000906 | 0.0028 | 0.32 | T | 0.307 | B | 0.065 | B | 0.000 | D | 1.000 | D | 0.68 | N | 0.56 | T | -1.024 | T | 0.105 | T | 3.726 | 18.92 | 4.87 | 2.242 | 9.383 | 16.577 | 3.725768 | 3.725768 | 0.54 | NA | NA | NA | NA | NA | 13.3312428 |
14 | 64604650 | 64604650 | A | G | exonic | SYNE2 | NA | nonsynonymous SNV | exonic | ENSG00000054654 | NA | nonsynonymous SNV | Score=444;Name=lod=85 | NA | 14q23.2 | NA | Name=CTCF_(SC-5916),CTCF_(C-20),CTCF,SMC3_(ab9263),Rad21 | Name=50 | NA | rs147640636 | NA | NA | NA | NA | NA | NA | 0.0007 | 0.0014 | 0.41 | T | 0.282 | B | 0.159 | B | 0.006 | N | 1.000 | D | 1.295 | L | 1.36 | T | -1.101 | T | 0.068 | T | 2.214 | 13.36 | 2.12 | 0.117 | 2.659 | 9.838 | 2.214493 | 2.214493 | 0.12 | 0.001395 | 0.000227 | NA | NA | NA | 13.3312384 |
7 | 29966229 | 29966229 | T | C | exonic | SCRN1 | NA | nonsynonymous SNV | exonic | ENSG00000136193 | NA | nonsynonymous SNV | Score=545;Name=lod=218 | NA | 7p14.3 | NA | NA | NA | NA | rs151249549 | 0.000399361 | 0.001 | NA | NA | 0.0008 | NA | 0.0012 | 0.002 | . | . | 0.103 | B | 0.031 | B | 0.000 | D | 1.000 | D | 1.63 | L | 3.18 | T | -1.086 | T | 0.036 | T | 1.872 | 12.22 | 5.68 | 2.185 | 3.404 | 14.796 | 1.872421 | 1.872421 | 0.08 | 0.001395 | 0.000908 | NA | NA | NA | 13.3297384 |
18 | 215504 | 215504 | G | A | exonic | THOC1 | NA | nonsynonymous SNV | exonic | ENSG00000079134 | NA | nonsynonymous SNV | Score=645;Name=lod=556 | NA | 18p11.32 | NA | NA | NA | NA | rs138671246 | 0.000399361 | 0.001 | NA | 0.0014 | NA | NA | 0.0014 | 0.0028 | 0.59 | T | 0.029 | B | 0.022 | B | 0.000 | D | 1.000 | D | 0.665 | N | . | . | -0.940 | T | 0.157 | T | 1.903 | 12.32 | 5.44 | 2.560 | 6.757 | 19.261 | 1.902522 | 1.902522 | NA | 0.001954 | 0.00027 | NA | NA | NA | 13.3289794 |
5 | 110096992 | 110096992 | A | G | exonic | SLC25A46 | NA | nonsynonymous SNV | exonic | ENSG00000164209 | NA | nonsynonymous SNV | Score=502;Name=lod=146 | NA | 5q22.1 | NA | NA | NA | NA | rs141213807 | 0.000399361 | 0.001 | NA | NA | 0.0008 | NA | 0.002 | 0.003 | 0.38 | T | 0.008 | B | 0.009 | B | 0.000 | D | 1.000 | D | 1.32 | L | -1.15 | T | -0.343 | T | 0.471 | T | 1.528 | 11.06 | 5.96 | 2.284 | 5.902 | 16.445 | 1.528277 | 1.528277 | 0.67 | 0.003024 | 0.001135 | NA | NA | NA | 13.3273094 |
16 | 1308156 | 1308156 | G | A | exonic | TPSD1 | NA | nonsynonymous SNV | exonic | ENSG00000095917 | NA | nonsynonymous SNV | NA | NA | 16p13.3 | NA | NA | NA | NA | rs139855296 | 0.000998403 | 0.005 | NA | NA | NA | NA | 0.0014 | 0.004 | 0.55 | T | 0.607 | P | 0.505 | P | 0.000 | D | 1.000 | N | 1.41 | L | -2.42 | D | -0.420 | T | 0.562 | D | 1.422 | 10.69 | 2.09 | 1.537 | -0.018 | 8.856 | 1.422312 | 1.422312 | 0.35 | 0.002094 | 0.000456 | NA | NA | NA | 13.3248394 |
14 | 92253952 | 92253952 | T | G | exonic | TC2N | NA | nonsynonymous SNV | exonic | ENSG00000165929 | NA | nonsynonymous SNV | Score=474;Name=lod=113 | NA | 14q32.12 | NA | NA | NA | NA | rs144110131 | 0.000599042 | 0.002 | NA | NA | 0.0008 | NA | 0.0023 | 0.0055 | 0.21 | T | 0.874 | P | 0.641 | P | 0.000 | D | 0.923 | N | 0.345 | N | 3.42 | T | -1.099 | T | 0.026 | T | 2.582 | 14.59 | 5.73 | 2.308 | 6.602 | 16.312 | 2.581856 | 2.581856 | 0.2 | 0.005465 | 0 | NA | NA | NA | 13.3235684 |
16 | 10775932 | 10775932 | A | G | exonic | TEKT5 | NA | nonsynonymous SNV | exonic | ENSG00000153060 | NA | nonsynonymous SNV | Score=300;Name=lod=22 | NA | 16p13.13 | NA | Name=HNF4A_(H-171),HNF4G_(SC-6558) | NA | NA | rs138988373 | 0.00219649 | 0.006 | NA | 0.0058 | NA | 0.001 | 0.0025 | 0.004 | 0.53 | T | 0.0 | B | 0.0 | B | 0.038 | N | 0.931 | D | -1.28 | N | 4.43 | T | -0.868 | T | 0.003 | T | -0.58 | 1.395 | 3.88 | 1.889 | 1.120 | 5.513 | -0.579606 | NA | 0.41 | 0.003372 | 0.000683 | NA | NA | NA | 13.3214614 |
16 | 10788200 | 10788200 | C | G | exonic | TEKT5 | NA | nonsynonymous SNV | exonic | ENSG00000153060 | NA | nonsynonymous SNV | Score=429;Name=lod=74 | NA | 16p13.13 | NA | NA | NA | NA | rs148185751 | 0.00259585 | 0.006 | NA | 0.0058 | 0.0015 | 0.001 | 0.0027 | 0.004 | 0.02 | D | 0.319 | B | 0.364 | B | 0.003 | N | 0.997 | D | 2.81 | M | 3.97 | T | -1.173 | T | 0.028 | T | 1.905 | 12.33 | 4.68 | 1.368 | 0.283 | 8.029 | 1.905042 | 1.905042 | 0.01 | 0.003372 | 0.001138 | NA | NA | NA | 13.3212614 |
16 | 2296927 | 2296927 | G | A | exonic | ECI1 | NA | nonsynonymous SNV | exonic | ENSG00000167969 | NA | nonsynonymous SNV | Score=304;Name=lod=23 | NA | 16p13.3 | NA | NA | NA | NA | rs112729404 | 0.00658946 | 0.002 | 0.001 | NA | NA | 0.0307 | 0.0083 | 0.0042 | 0.1 | T | 0.962 | D | 0.344 | B | 0.000 | N | 1.000 | D | 2.01 | M | -0.37 | T | -0.712 | T | 0.228 | T | 1.171 | 9.763 | 3.22 | 0.761 | 6.033 | 9.082 | 1.17056 | NA | 0.01 | 0.004186 | 0.000227 | NA | NA | NA | 13.3188474 |
2 | 136620315 | 136620315 | T | C | exonic | MCM6 | NA | nonsynonymous SNV | exonic | ENSG00000076003 | NA | nonsynonymous SNV | Score=698;Name=lod=919 | NA | 2q21.3 | NA | NA | NA | NA | rs141448886 | 0.00239617 | 0.008 | 0.001 | 0.0014 | NA | 0.002 | 0.004 | 0.01 | 0.24 | T | 0.399 | B | 0.34 | B | 0.000 | D | 1.000 | D | 1.32 | L | 2.8 | T | -1.082 | T | 0.026 | T | 4.198 | 21.8 | 5.27 | 1.973 | 7.589 | 15.208 | 4.19751 | 4.19751 | 0.05 | 0.004535 | 0.000908 | NA | NA | NA | 13.3167984 |
11 | 65314277 | 65314277 | G | C | exonic | LTBP3 | NA | nonsynonymous SNV | exonic | ENSG00000168056 | NA | nonsynonymous SNV | Score=439;Name=lod=81 | NA | 11q13.1 | Score=987;Name=V$SP1_Q6 | Name=TAF1,Pbx3,IRF1,USF-1,SP1,E2F6_(H-50) | Name=71 | NA | rs148780991 | 0.00878594 | 0.0109 | 0.002 | 0.0101 | 0.0182 | NA | 0.0074 | 0.015 | 0.36 | T | 0.234 | B | 0.11 | B | 0.001 | N | 1.000 | N | -0.39 | N | 1.95 | T | -1.000 | T | 0.011 | T | 1.888 | 12.27 | 4.08 | 1.109 | 0.698 | 9.287 | 1.887566 | 1.887566 | 0.21 | 0.007009 | 0.015539 | NA | NA | NA | 13.3080244 |
2 | 179393691 | 179393691 | G | A | exonic | TTN | NA | nonsynonymous SNV | exonic | ENSG00000155657 | NA | nonsynonymous SNV | Score=510;Name=lod=157 | NA | 2q31.2 | NA | NA | NA | NA | rs55842557 | 0.00379393 | 0.0159 | NA | 0.0043 | NA | NA | 0.0098 | 0.02 | 0 | D | 0.257 | B | 0.068 | B | . | . | 1.000 | N | 0.695 | N | 0.25 | T | -0.944 | T | 0.084 | T | 2.625 | 14.74 | 4.74 | 2.677 | 3.452 | 13.248 | 2.624609 | 2.624609 | NA | 0.006818 | 0.000793 | NA | NA | CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040981.1|RCV000126004.1;CLNDSDB=.|.;CLNDSDBID=.|. | 13.3008154 |
11 | 57947223 | 57947223 | C | A | exonic | OR9Q1 | NA | nonsynonymous SNV | exonic | ENSG00000186509 | NA | nonsynonymous SNV | Score=378;Name=lod=46 | NA | 11q12.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.01 | D | 0.552 | P | 0.12 | B | 0.218 | N | 0.840 | N | 1.815 | L | 7.54 | T | -0.971 | T | 0.001 | T | 2.148 | 13.14 | 2.91 | 1.436 | 0.205 | 1.371 | 2.147802 | 2.147802 | 0.04 | NA | NA | NA | NA | NA | 12.8333334 |
22 | 50898827 | 50898827 | G | A | exonic | SBF1 | NA | nonsynonymous SNV | exonic | ENSG00000100241 | NA | nonsynonymous SNV | Score=591;Name=lod=336 | NA | 22q13.33 | NA | NA | NA | NA | rs202156491 | NA | NA | NA | NA | NA | NA | 0.0007 | 0.0009 | 0 | D | 0.998 | D | 0.9 | P | 0.004 | N | 0.961 | D | 0.895 | L | 2.85 | T | -1.134 | T | 0.041 | T | 3.261 | 16.94 | 1.58 | 0.251 | 2.910 | 11.43 | 3.261272 | 3.261272 | 0 | 0.000936 | 0 | NA | NA | NA | 12.8316974 |
1 | 235324219 | 235324219 | G | A | exonic | RBM34 | NA | nonsynonymous SNV | exonic | ENSG00000188739 | NA | nonsynonymous SNV | NA | NA | 1q42.3 | NA | Name=Sin3Ak-20,CHD2_(N-1250),Pol2 | Name=115 | NA | rs181926176 | 0.00179712 | 0.001 | NA | 0.0086 | 0.0015 | NA | 0.0004 | 0.01 | 0.38 | T | 0.64 | P | 0.146 | B | 0.001 | N | 0.988 | D | 2.255 | M | 2.08 | T | -1.084 | T | 0.030 | T | 3.302 | 17.1 | 0.896 | 0.273 | 1.087 | 6.016 | 3.301935 | 3.301935 | 0.02 | 0.000364 | 0.000779 | NA | NA | NA | 12.8315694 |
22 | 46932032 | 46932032 | T | A | exonic | CELSR1 | NA | nonsynonymous SNV | exonic | ENSG00000075275 | NA | nonsynonymous SNV | Score=498;Name=lod=141 | NA | 22q13.31 | NA | NA | NA | NA | rs142090496 | 0.000798722 | 0.002 | NA | 0.0014 | NA | 0.001 | 0.0011 | 0.0028 | 0.06 | T | 0.972 | D | 0.694 | P | 0.000 | U | 0.868 | N | 1.785 | L | 4.66 | T | -1.100 | T | 0.013 | T | 3.017 | 16.06 | 4.21 | 1.553 | 4.777 | 12.956 | 3.016895 | 3.016895 | 0.12 | 0.002674 | 0.000454 | NA | NA | NA | 12.8275594 |
4 | 37591783 | 37591783 | G | A | exonic | C4orf19 | NA | nonsynonymous SNV | exonic | ENSG00000154274 | NA | nonsynonymous SNV | Score=278;Name=lod=18 | NA | 4p14 | NA | NA | NA | NA | rs75469859 | 0.00119808 | 0.003 | NA | 0.0014 | NA | 0.002 | 0.0014 | 0.004 | 0.08 | T | 0.977 | D | 0.787 | P | 0.462 | N | 1.000 | N | 1.59 | L | 1.49 | T | -0.973 | T | 0.129 | T | 4.191 | 21.7 | 5.54 | 2.884 | 3.783 | 13.080 | 4.191373 | 4.191373 | 0.01 | 0.001744 | 0 | NA | NA | NA | 12.8271894 |
11 | 124756982 | 124756982 | G | A | exonic | ROBO4 | NA | nonsynonymous SNV | exonic | ENSG00000154133 | NA | nonsynonymous SNV | Score=358;Name=lod=38 | NA | 11q24.2 | NA | NA | NA | NA | rs138481093 | 0.00199681 | 0.006 | 0.001 | 0.0029 | 0.0008 | NA | 0.005 | 0.01 | 0.1 | T | 0.986 | D | 0.534 | P | 0.303 | N | 0.997 | N | 1.78 | L | 0.18 | T | -0.922 | T | 0.206 | T | 2.484 | 14.26 | 3.83 | 0.955 | 1.196 | 7.800 | 2.483817 | 2.483817 | 0.04 | 0.007444 | 0.002499 | NA | NA | NA | 12.8148894 |
21 | 43708422 | 43708422 | G | A | exonic | ABCG1 | NA | synonymous SNV | exonic | ENSG00000160179 | NA | synonymous SNV | Score=596;Name=lod=353 | NA | 21q22.3 | Score=819;Name=V$PAX2_01 | NA | Name=33 | NA | rs141061143 | 0.00139776 | NA | NA | 0.0014 | 0.0045 | NA | 0.0002 | 0.0041 | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | -0.818 | T | 0.217 | T | 1.669 | 11.54 | 2.3 | 0.883 | 3.009 | 9.973 | 1.669497 | 1.669497 | NA | 0 | 0.000681 | NA | NA | NA | 12.6664666 |
3 | 48669454 | 48669454 | G | C | exonic | SLC26A6 | NA | nonsynonymous SNV | exonic | ENSG00000225697 | NA | nonsynonymous SNV | Score=534;Name=lod=197 | NA | 3p21.31 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.1 | T | 0.36 | B | 0.119 | B | . | . | 1.000 | D | 0.395 | N | -2.71 | D | -0.432 | T | 0.508 | D | 2.937 | 15.79 | -1.36 | -0.230 | -0.296 | 9.944 | 2.937282 | 2.937282 | 0.08 | NA | NA | NA | NA | NA | 12.3333334 |
5 | 79739010 | 79739010 | A | G | exonic | ZFYVE16 | NA | nonsynonymous SNV | exonic | ENSG00000039319 | NA | nonsynonymous SNV | Score=422;Name=lod=69 | NA | 5q14.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.22 | T | 0.0 | B | 0.0 | B | 0.101 | N | 0.993 | N | -1.01 | N | 1.23 | T | -1.047 | T | 0.029 | T | -0.917 | 0.403 | 3.54 | 1.322 | 2.711 | 6.840 | -0.917387 | NA | 0.45 | NA | NA | NA | NA | NA | 12.3333334 |
19 | 48343000 | 48343000 | G | A | exonic | CRX | NA | nonsynonymous SNV | exonic | ENSG00000105392 | NA | nonsynonymous SNV | Score=450;Name=lod=90 | NA | 19q13.33 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.16 | T | 0.026 | B | 0.017 | B | 0.050 | N | 1.000 | N | 0.69 | N | -2.03 | D | -0.769 | T | 0.328 | T | 2.765 | 15.21 | 2.04 | 0.415 | 3.937 | 4.446 | 2.765373 | 2.765373 | 0.13 | NA | NA | ID=COSM439884;OCCURENCE=1(breast) | NA | NA | 12.3333334 |
19 | 37619496 | 37619496 | G | C | exonic | ZNF420 | NA | nonsynonymous SNV | exonic | ENSG00000197050 | NA | nonsynonymous SNV | NA | NA | 19q13.12 | NA | Name=SETDB1,KAP1,ZNF274 | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008241 | NA | . | . | 0.821 | P | 0.57 | P | . | . | 1.000 | N | 1.275 | L | 3.19 | T | -1.027 | T | 0.027 | T | -0.695 | 0.987 | 2.01 | 0.980 | 0.447 | 9.288 | -0.695326 | NA | 0.24 | NA | NA | NA | NA | NA | 12.3333252 |
10 | 131965213 | 131965213 | A | G | exonic | GLRX3 | NA | nonsynonymous SNV | exonic | ENSG00000108010 | NA | nonsynonymous SNV | Score=549;Name=lod=227 | NA | 10q26.3 | Score=827;Name=V$GR_Q6 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008284 | NA | 0.5 | T | 0.002 | B | 0.002 | B | 0.002 | N | 0.742 | N | 0.015 | N | 3.2 | T | -0.975 | T | 0.011 | T | -0.79 | 0.704 | 2.65 | 0.259 | 2.013 | 8.717 | -0.789589 | NA | 0.74 | NA | NA | NA | NA | NA | 12.3333251 |
12 | 32490627 | 32490627 | T | C | exonic | BICD1 | NA | nonsynonymous SNV | exonic | ENSG00000151746 | NA | nonsynonymous SNV | Score=780;Name=lod=1975 | NA | 12p11.21 | NA | NA | NA | NA | rs200867915 | NA | NA | NA | NA | NA | NA | 0.00004119 | NA | 0.48 | T | 0.008 | B | 0.007 | B | 0.001 | N | 1.000 | D | 0 | N | 1.01 | T | -1.071 | T | 0.052 | T | -0.171 | 3.168 | 4.66 | 1.968 | 2.694 | 10.447 | -0.170539 | NA | 0.83 | NA | NA | NA | NA | NA | 12.3332922 |
15 | 75131031 | 75131031 | T | C | exonic | ULK3 | NA | nonsynonymous SNV | exonic | ENSG00000140474 | NA | nonsynonymous SNV | Score=446;Name=lod=87 | NA | 15q24.1 | Score=920;Name=V$HOXA3_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00005975 | NA | 0.39 | T | 0.017 | B | 0.007 | B | . | . | 0.815 | D | 1.085 | L | 2.06 | T | -1.034 | T | 0.033 | T | 2.008 | 12.67 | 1.63 | 0.022 | 2.325 | 5.607 | 2.008193 | 2.008193 | 0.23 | NA | NA | ID=COSM1478352;OCCURENCE=1(breast) | NA | NA | 12.3332736 |
20 | 33584521 | 33584521 | G | A | exonic | MYH7B | NA | nonsynonymous SNV | exonic | ENSG00000078814 | NA | nonsynonymous SNV | NA | NA | 20q11.22 | NA | NA | Name=3 | NA | NA | NA | NA | NA | NA | NA | NA | 0.0003 | NA | 0.01 | D | 0.425 | B | 0.237 | B | 0.438 | N | 1.000 | N | 0.69 | N | -1.66 | D | -0.690 | T | 0.310 | T | 1.258 | 10.1 | 2.09 | 0.375 | 0.109 | 1.085 | 1.258267 | 1.258267 | 0.02 | NA | NA | NA | NA | NA | 12.3330334 |
10 | 105104826 | 105104826 | C | T | exonic | PCGF6 | NA | nonsynonymous SNV | exonic | ENSG00000156374 | NA | nonsynonymous SNV | Score=629;Name=lod=480 | NA | 10q24.33 | Score=842;Name=V$IRF7_01 | NA | NA | NA | rs137910892 | 0.000199681 | NA | NA | NA | NA | 0.001 | 0.0002 | 0.0006 | 0.47 | T | 0.002 | B | 0.001 | B | 0.001 | N | 1.000 | D | 0.59 | N | 1.38 | T | -1.098 | T | 0.054 | T | 2.458 | 14.18 | 3.84 | 0.763 | 4.684 | 11.892 | 2.457667 | 2.457667 | 0.32 | 0.000581 | 0 | NA | NA | NA | 12.3325524 |
10 | 102738626 | 102738626 | G | A | exonic | SEMA4G | NA | nonsynonymous SNV | exonic | ENSG00000095539 | NA | nonsynonymous SNV | Score=440;Name=lod=82 | NA | 10q24.31 | NA | NA | NA | NA | rs138710515 | NA | NA | NA | NA | NA | NA | 0.0003 | 0.0006 | 0.38 | T | 0.208 | B | 0.052 | B | 0.000 | N | 1.000 | D | 1.015 | L | 2.83 | T | -1.021 | T | 0.021 | T | 2.339 | 13.78 | 4.73 | 1.380 | 4.521 | 11.636 | 2.339296 | 2.339296 | 0.13 | 0.000581 | 0 | NA | NA | NA | 12.3324524 |
8 | 8749895 | 8749895 | G | A | exonic | MFHAS1 | NA | nonsynonymous SNV | exonic | ENSG00000147324 | NA | nonsynonymous SNV | Score=452;Name=lod=92 | NA | 8p23.1 | NA | Name=Pol2 | Name=113 | NA | rs140544252 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0003 | 0.0007 | 0.37 | T | 0.146 | B | 0.038 | B | 0.004 | N | 0.926 | N | 1.58 | L | 1.81 | T | -1.046 | T | 0.050 | T | 0.541 | 6.931 | 3.45 | 0.573 | 3.018 | 9.058 | 0.541412 | NA | 0.79 | 0.000698 | 0 | NA | NA | NA | 12.3313354 |
12 | 108686280 | 108686280 | G | A | exonic | CMKLR1 | NA | nonsynonymous SNV | exonic | ENSG00000174600 | NA | nonsynonymous SNV | NA | NA | 12q23.3 | NA | NA | NA | NA | rs146650378 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0005 | 0.0013 | 0.01 | D | 0.947 | P | 0.567 | P | 0.007 | N | 0.998 | N | 1.91 | M | 0.95 | T | -0.900 | T | 0.147 | T | 0.755 | 8 | 2.29 | 0.163 | 1.409 | 14.505 | 0.755197 | NA | 0.02 | 0.000588 | 0 | NA | NA | NA | 12.3312454 |
1 | 110882499 | 110882499 | T | G | exonic | RBM15 | NA | nonsynonymous SNV | exonic | ENSG00000162775 | NA | nonsynonymous SNV | Score=435;Name=lod=78 | NA | 1p13.3 | NA | Name=USF1_(SC-8983),Pol2,ELK4,Sin3Ak-20,E2F6_(H-50),Egr-1 | Name=72 | NA | rs200933258 | 0.000599042 | 0.002 | NA | 0.0014 | NA | NA | 0.0002 | 0.0028 | 0.59 | T | 0.039 | B | 0.013 | B | 0.001 | N | 0.969 | N | -0.345 | N | 0.9 | T | -0.959 | T | 0.014 | T | 0.918 | 8.735 | 2.79 | 0.954 | 0.908 | 6.709 | 0.917509 | NA | 0.78 | NA | NA | NA | NA | NA | 12.3311334 |
12 | 52962157 | 52962157 | G | A | exonic | KRT74 | NA | nonsynonymous SNV | exonic | ENSG00000170484 | NA | nonsynonymous SNV | Score=371;Name=lod=43 | NA | 12q13.13 | NA | NA | NA | NA | NA | 0.000599042 | 0.002 | 0.001 | NA | NA | NA | 0.0003 | NA | 0.05 | D | 0.926 | P | 0.507 | P | 0.004 | N | 1.000 | N | 1.415 | L | -0.97 | T | -0.249 | T | 0.563 | D | 2.385 | 13.93 | 1.3 | 0.137 | 0.560 | 10.230 | 2.385147 | 2.385147 | 0.1 | NA | NA | ID=COSM124031;OCCURENCE=1(upper_aerodigestive_tract) | NA | NA | 12.3310334 |
18 | 47463727 | 47463727 | G | A | exonic | MYO5B | NA | nonsynonymous SNV | exonic | ENSG00000167306 | NA | nonsynonymous SNV | NA | NA | 18q21.1 | NA | NA | NA | NA | rs75107667 | 0.0091853 | NA | 0.001 | 0.0029 | 0.0325 | NA | 0.0023 | 0.03 | 0.08 | T | 0.002 | B | 0.014 | B | 0.531 | N | 0.824 | D | 0.435 | N | -3.62 | D | -0.408 | T | 0.460 | T | 1.509 | 11 | 4.39 | 1.229 | 3.859 | 12.897 | 1.509013 | 1.509013 | 0.14 | 0.00012 | 0.021378 | NA | 0.022 | NA | 12.3309134 |
16 | 72831132 | 72831132 | C | A | exonic | ZFHX3 | NA | nonsynonymous SNV | exonic | ENSG00000140836 | NA | nonsynonymous SNV | Score=343;Name=lod=33 | NA | 16q22.2 | NA | NA | NA | NA | rs148334947 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.0009 | 0.0026 | 0.71 | T | 0.002 | B | 0.002 | B | 0.000 | D | 0.798 | N | 0.345 | N | -0.7 | T | -0.966 | T | 0.172 | T | 0.787 | 8.149 | 6.03 | 2.854 | 2.503 | 15.258 | 0.786921 | NA | NA | 0.001512 | 0.000227 | NA | NA | NA | 12.3289214 |
12 | 39724052 | 39724052 | A | G | exonic | KIF21A | NA | nonsynonymous SNV | exonic | ENSG00000139116 | NA | nonsynonymous SNV | Score=623;Name=lod=454 | NA | 12q12 | NA | NA | NA | NA | rs150294289 | 0.00139776 | 0.004 | NA | 0.0043 | NA | NA | 0.0011 | 0.01 | 0.78 | T | 0.0 | B | 0.002 | B | . | . | 1.000 | D | 0 | N | -0.38 | T | -1.059 | T | 0.067 | T | 1.483 | 10.91 | 4.82 | 1.089 | 4.647 | 11.237 | 1.482908 | 1.482908 | 0.36 | 0.001628 | 0.000681 | NA | NA | NA | 12.3266054 |
10 | 95931011 | 95931011 | A | G | exonic | PLCE1 | NA | nonsynonymous SNV | exonic | ENSG00000138193 | NA | nonsynonymous SNV | Score=497;Name=lod=140 | NA | 10q23.33 | Score=949;Name=V$CDPCR3HD_01 | NA | NA | NA | rs61751494 | 0.000798722 | 0.003 | NA | 0.0014 | NA | NA | 0.0016 | 0.0035 | 0.44 | T | 0.006 | B | 0.004 | B | 0.001 | D | 0.930 | N | 0.46 | N | 1.45 | T | -1.047 | T | 0.038 | T | 0.552 | 6.986 | 5.71 | 2.172 | 0.905 | 5.729 | 0.55195 | NA | 0.15 | 0.003481 | 0.000249 | NA | NA | NA | 12.3252524 |
4 | 5620263 | 5620263 | G | A | exonic | EVC2 | NA | nonsynonymous SNV | exonic | ENSG00000173040 | NA | nonsynonymous SNV | NA | NA | 4p16.2 | NA | NA | NA | NA | rs140951974 | 0.00179712 | 0.006 | NA | 0.0029 | NA | 0.001 | 0.004 | 0.01 | 0.21 | T | 0.97 | D | 0.265 | B | 0.000 | D | 1.000 | N | 0.695 | N | -1.04 | T | -0.822 | T | 0.168 | T | 2.833 | 15.44 | 4.37 | 2.488 | 1.943 | 9.876 | 2.832975 | 2.832975 | 0.05 | 0.003953 | 0.000227 | NA | NA | NA | 12.3193804 |
17 | 5085637 | 5085637 | G | A | exonic | ZNF594 | NA | nonsynonymous SNV | exonic | ENSG00000180626 | NA | nonsynonymous SNV | NA | NA | 17p13.2 | NA | Name=KAP1,SETDB1 | NA | NA | rs189770499 | 0.00239617 | 0.004 | NA | 0.0029 | NA | 0.0061 | 0.0048 | 0.01 | 0.05 | D | 1.0 | D | 0.996 | D | . | . | 1.000 | N | 2.325 | M | 0.68 | T | -0.924 | T | 0.180 | T | 1.264 | 10.12 | -0.665 | 0.034 | 0.296 | 5.464 | 1.26438 | 1.26438 | 0.04 | 0.006534 | 0.001159 | NA | NA | NA | 12.3179994 |
10 | 119043458 | 119043458 | T | G | exonic | PDZD8 | NA | nonsynonymous SNV | exonic | ENSG00000165650 | NA | nonsynonymous SNV | NA | NA | 10q25.3 | Score=810;Name=V$PBX1_02 | NA | NA | NA | rs140922572 | 0.000798722 | 0.004 | NA | NA | NA | NA | 0.0052 | 0.0067 | 0.37 | T | 0.132 | B | 0.051 | B | 0.001 | N | 0.975 | N | 0.805 | L | -2.03 | D | -0.798 | T | 0.278 | T | -0.23 | 2.889 | 3.17 | 1.011 | 2.484 | 8.570 | -0.230091 | NA | 0.36 | 0.006744 | 0.00227 | NA | NA | NA | 12.3173894 |
19 | 15760883 | 15760883 | G | A | exonic | CYP4F3 | NA | nonsynonymous SNV | exonic | ENSG00000186529 | NA | nonsynonymous SNV | Score=295;Name=lod=21 | NA | 19p13.12 | Score=933;Name=V$TCF11_01 | NA | NA | NA | rs28371536 | 0.00299521 | 0.0099 | NA | 0.0043 | NA | 0.002 | 0.0063 | 0.01 | 0.07 | T | 0.05 | B | 0.19 | B | 0.004 | U | 0.971 | D | 0.395 | N | -0.34 | T | -0.899 | T | 0.131 | T | 1.854 | 12.16 | 2.94 | 0.667 | 4.257 | 9.454 | 1.853745 | 1.853745 | 0.07 | 0.009302 | 0.001135 | NA | NA | NA | 12.3078314 |
6 | 132203615 | 132203615 | G | A | splicing | ENPP1 | NM_006208:exon21:c.2230+1G>A | NA | splicing | ENSG00000197594 | ENST00000360971:exon21:c.2230+1G>A,ENST00000513998:exon21:c.2204+1G>A | NA | Score=387;Name=lod=50 | NA | 6q23.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008239 | NA | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | . | . | . | . | 4.254 | 22.2 | 6.16 | 2.937 | 6.338 | 18.633 | 4.253761 | 4.253761 | NA | NA | NA | NA | NA | NA | 11.9999918 |
4 | 165878621 | 165878621 | G | A | exonic | FAM218A | NA | stopgain | exonic | ENSG00000250486 | NA | stopgain | NA | NA | 4q32.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001662 | NA | 0 | D | . | . | . | . | . | . | 1.000 | N | . | . | . | . | . | . | . | . | 1.594 | 11.29 | -2.48 | -1.270 | -0.507 | 0.078 | 1.593966 | 1.593966 | 0 | NA | NA | NA | NA | NA | 11.9999834 |
3 | 40085760 | 40085760 | G | A | exonic | MYRIP | NA | synonymous SNV | exonic | ENSG00000170011 | NA | nonsynonymous SNV | Score=489;Name=lod=129 | NA | 3p22.1 | Score=797;Name=V$COMP1_01 | Name=FOXA1_(C-20) | NA | NA | rs56248790 | 0.00219649 | 0.006 | NA | 0.0029 | NA | 0.0031 | 0.0022 | 0.01 | . | . | 0.017 | B | 0.002 | B | . | . | 1.000 | D | . | . | 2.0 | T | -1.012 | T | 0.018 | T | 2.746 | 15.14 | -10.9 | -2.763 | 0.008 | 12.247 | 2.745583 | 2.745583 | 0.02 | 0.002209 | 0.001135 | NA | NA | NA | 11.989591 |
2 | 167273315 | 167273315 | G | A | exonic | SCN7A | NA | nonsynonymous SNV | exonic | ENSG00000136546 | NA | nonsynonymous SNV | NA | NA | 2q24.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00002591 | NA | 0 | D | 0.669 | P | 0.04 | B | 0.736 | N | 1.000 | N | -0.625 | N | -4.09 | D | -0.293 | T | 0.632 | D | 0.416 | 6.26 | 0.442 | 0.172 | 0.805 | 16.370 | 0.416089 | NA | 0 | NA | NA | NA | NA | NA | 11.8333075 |
1 | 75702736 | 75702736 | C | A | exonic | SLC44A5 | NA | nonsynonymous SNV | exonic | ENSG00000137968 | NA | nonsynonymous SNV | NA | NA | 1p31.1 | NA | NA | NA | NA | rs143251034 | 0.000399361 | 0.001 | NA | 0.0014 | NA | NA | 0.0004 | 0.0028 | 0 | D | 0.982 | D | 0.891 | P | 0.202 | N | 0.998 | D | 2.175 | M | 2.84 | T | -1.038 | T | 0.045 | T | 1.643 | 11.45 | -1.47 | 0.010 | 0.671 | 6.567 | 1.643121 | 1.643121 | 0.02 | 0.000116 | 0 | NA | NA | NA | 11.8318174 |
12 | 14976375 | 14976375 | C | T | exonic | C12orf60 | NA | nonsynonymous SNV | exonic | ENSG00000182993 | NA | nonsynonymous SNV | NA | NA | 12p12.3 | Score=1000;Name=V$AML1_01 | NA | NA | NA | rs149459242 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0006 | 0.001 | 0.01 | D | 0.893 | P | 0.432 | B | 0.061 | N | 1.000 | N | 1.1 | L | 2.24 | T | -1.060 | T | 0.032 | T | 1.469 | 10.86 | 2.37 | 1.185 | 0.673 | 4.778 | 1.468777 | 1.468777 | 0.04 | 0.001047 | 0.000681 | NA | NA | NA | 11.8306864 |
17 | 80543972 | 80543972 | C | T | exonic | FOXK2 | NA | nonsynonymous SNV | exonic | ENSG00000141568 | NA | nonsynonymous SNV | NA | NA | 17q25.3 | NA | NA | NA | NA | rs12150682 | 0.00379393 | 0.0159 | NA | 0.0014 | 0.0015 | NA | 0.0055 | 0.011 | 0.05 | D | 0.83 | P | 0.221 | B | 0.005 | N | 1.000 | N | 0.69 | N | -3.34 | D | -0.295 | T | 0.481 | T | 2.139 | 13.11 | 3.37 | 0.824 | 2.432 | 9.069 | 2.138568 | 2.138568 | 0.06 | 0.008394 | 0.001137 | NA | 0.007 | NA | 11.8035394 |
1 | 227921376 | 227921376 | C | T | exonic | JMJD4 | NA | synonymous SNV | exonic | ENSG00000081692 | NA | synonymous SNV | NA | NA | 1q42.13 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00002534 | NA | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | -0.853 | T | 0.140 | T | -0.045 | 3.784 | -8.45 | -1.873 | -3.526 | 7.639 | -0.045005 | NA | NA | NA | NA | NA | NA | NA | 11.6666413 |
3 | 124438188 | 124438188 | C | T | exonic | KALRN | NA | synonymous SNV | exonic | ENSG00000160145 | NA | synonymous SNV | Score=573;Name=lod=285 | NA | 3q21.2 | NA | NA | NA | NA | rs56410073 | 0.00159744 | 0.005 | 0.001 | 0.0029 | NA | NA | 0.0028 | 0.0044 | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | -0.772 | T | 0.223 | T | 0.525 | 6.844 | 4.42 | 1.445 | 1.953 | 9.625 | 0.524926 | NA | NA | 0.004419 | 0.001816 | NA | NA | NA | 11.6544476 |
9 | 140611555 | 140611555 | A | G | exonic | EHMT1 | NA | nonsynonymous SNV | exonic | ENSG00000181090 | NA | nonsynonymous SNV | NA | NA | 9q34.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.39 | T | 0.005 | B | 0.003 | B | 0.137 | N | 1.000 | N | 1.39 | L | 1.69 | T | -0.991 | T | 0.180 | T | 2.146 | 13.13 | 4.62 | 2.236 | 1.808 | 7.636 | 2.145627 | 2.145627 | 0.04 | NA | NA | NA | NA | NA | 11.3333334 |
3 | 49841903 | 49841903 | G | A | exonic | FAM212A | NA | nonsynonymous SNV | exonic | ENSG00000185614 | NA | nonsynonymous SNV | Score=278;Name=lod=18 | NA | 3p21.31 | NA | Name=ZNF263,Max | Name=30 | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008259 | NA | 0.34 | T | 0.007 | B | 0.006 | B | 0.630 | N | 0.953 | N | -0.115 | N | . | . | -1.005 | T | 0.039 | T | 0.458 | 6.489 | 1.95 | 0.156 | 0.528 | 5.073 | 0.458382 | NA | 0.24 | NA | NA | NA | NA | NA | 11.3333251 |
1 | 44595144 | 44595144 | G | T | exonic | KLF17 | NA | nonsynonymous SNV | exonic | ENSG00000171872 | NA | nonsynonymous SNV | NA | NA | 1p34.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008433 | NA | 0.09 | T | 0.16 | B | 0.027 | B | 0.233 | N | 1.000 | N | 0.55 | N | 3.2 | T | -0.999 | T | 0.015 | T | 1.891 | 12.28 | 3.66 | 1.520 | 1.800 | 10.296 | 1.89087 | 1.89087 | 0.05 | NA | NA | NA | NA | NA | 11.333325 |
17 | 48435851 | 48435851 | G | A | exonic | XYLT2 | NA | nonsynonymous SNV | exonic | ENSG00000015532 | NA | nonsynonymous SNV | Score=587;Name=lod=324 | NA | 17q21.33 | NA | NA | NA | NA | rs369581548 | NA | NA | NA | NA | NA | NA | 0.00002489 | NA | 0.14 | T | 0.023 | B | 0.009 | B | 0.014 | N | 1.000 | D | 1.59 | L | 3.56 | T | -1.002 | T | 0.014 | T | 3.337 | 17.23 | 2.62 | 0.571 | 1.659 | 7.786 | 3.337102 | 3.337102 | 0.03 | NA | NA | NA | NA | NA | 11.3333085 |
22 | 46804943 | 46804943 | T | C | exonic | CELSR1 | NA | nonsynonymous SNV | exonic | ENSG00000075275 | NA | nonsynonymous SNV | Score=235;Name=lod=12 | NA | 22q13.31 | NA | NA | NA | NA | rs201049711 | NA | NA | NA | NA | NA | NA | 0.00004212 | NA | 1 | T | 0.0 | B | 0.0 | B | 0.001 | N | 1.000 | D | -2.12 | N | -0.08 | T | -0.939 | T | 0.044 | T | -1.033 | 0.216 | 2.45 | 0.355 | 1.784 | 11.220 | -1.032644 | NA | 1 | NA | NA | NA | NA | NA | 11.3332913 |
1 | 196963210 | 196963210 | A | G | exonic | CFHR5 | NA | nonsynonymous SNV | exonic | ENSG00000134389 | NA | nonsynonymous SNV | Score=251;Name=lod=14 | NA | 1q31.3 | NA | NA | NA | NA | rs201787238 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.00007569 | 0.0002 | . | . | 0.378 | B | 0.15 | B | . | . | 1.000 | N | 0.805 | L | 1.64 | T | -0.902 | T | 0.224 | T | 1.534 | 11.08 | 3.98 | 1.448 | 1.781 | 9.268 | 1.533854 | 1.533854 | 0.01 | 0 | 0.000228 | NA | NA | NA | 11.3332577 |
4 | 159091777 | 159091777 | C | G | exonic | FAM198B | NA | nonsynonymous SNV | exonic | ENSG00000164125 | NA | nonsynonymous SNV | NA | NA | 4q32.1 | NA | Name=CTCF_(SC-5916),c-Myc,TAF1,CTCF,Rad21 | Name=34 | NA | NA | 0.000199681 | NA | 0.001 | NA | NA | NA | 0.0001 | NA | 0.29 | T | 0.01 | B | 0.022 | B | 0.124 | N | 1.000 | N | 1.845 | L | 1.6 | T | -1.009 | T | 0.056 | T | 0.525 | 6.844 | 2.89 | 0.487 | 0.352 | 0.548 | 0.524885 | NA | 0.23 | NA | NA | NA | NA | NA | 11.3332334 |
10 | 135342118 | 135342118 | C | T | exonic | CYP2E1 | NA | nonsynonymous SNV | exonic | ENSG00000130649 | NA | nonsynonymous SNV | NA | NA | 10q26.3 | Score=861;Name=V$NFKB_C | NA | Name=7 | NA | NA | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.0002 | NA | 0.01 | D | 0.122 | B | 0.036 | B | 0.020 | N | 1.000 | N | 1.685 | L | -0.41 | T | -0.909 | T | 0.175 | T | 2.605 | 14.67 | -0.662 | -0.189 | 0.769 | 3.784 | 2.604515 | 2.604515 | 0 | NA | NA | NA | NA | NA | 11.3331334 |
12 | 50366997 | 50366997 | T | G | exonic | AQP6 | NA | nonsynonymous SNV | exonic | ENSG00000086159 | NA | nonsynonymous SNV | NA | NA | 12q13.12 | NA | NA | NA | NA | rs144813201 | NA | NA | NA | NA | NA | NA | 0.0001 | 0.0002 | 0 | D | 0.003 | B | 0.001 | B | 0.297 | N | 0.977 | N | 1.355 | L | -2.16 | D | -0.607 | T | 0.473 | T | 1.221 | 9.954 | -4.12 | -0.913 | -1.076 | 6.273 | 1.221033 | NA | 0 | 0.000233 | 0.000227 | NA | NA | NA | 11.3330004 |
11 | 102398322 | 102398322 | C | G | exonic | MMP7 | NA | nonsynonymous SNV | exonic | ENSG00000137673 | NA | nonsynonymous SNV | Score=385;Name=lod=49 | NA | 11q22.2 | NA | NA | NA | NA | rs141956671 | 0.00219649 | NA | NA | NA | 0.0083 | NA | 0.0004 | 0.0041 | 0.06 | T | 0.934 | P | 0.725 | P | 0.271 | N | 1.000 | N | 1.965 | M | 0.71 | T | -0.966 | T | 0.167 | T | 2.329 | 13.74 | 1.4 | 0.398 | -1.476 | 5.537 | 2.328734 | 2.328734 | 0.43 | 0 | 0.001816 | NA | NA | NA | 11.3329334 |
14 | 31765138 | 31765138 | T | G | exonic | HEATR5A | NA | nonsynonymous SNV | exonic | ENSG00000129493 | NA | nonsynonymous SNV | Score=631;Name=lod=490 | NA | 14q12 | NA | NA | Name=2 | NA | rs200160216 | 0.000798722 | NA | NA | 0.0058 | NA | NA | 0.0004 | NA | 0.06 | T | 0.941 | P | 0.796 | P | 0.013 | N | 1.000 | D | 1.61 | L | -0.16 | T | -0.592 | T | 0.307 | T | 2.321 | 13.72 | 0.688 | -0.108 | 0.367 | 10.246 | 2.320866 | 2.320866 | 0.02 | NA | NA | NA | NA | NA | 11.3329334 |
19 | 19675769 | 19675769 | C | T | exonic | PBX4 | NA | nonsynonymous SNV | exonic | ENSG00000105717 | NA | nonsynonymous SNV | Score=343;Name=lod=33 | NA | 19p13.11 | Score=967;Name=V$MYOD_Q6 | NA | NA | NA | rs116791423 | 0.000599042 | NA | 0.002 | NA | NA | 0.001 | 0.0003 | 0.0005 | 0.6 | T | 0.003 | B | 0.001 | B | 0.015 | N | 0.817 | D | 1.005 | L | -2.69 | D | -0.708 | T | 0.435 | T | 0.832 | 8.355 | -1.5 | -0.431 | 0.405 | 4.164 | 0.831761 | NA | 0.79 | 0.000116 | 0.000454 | NA | NA | NA | 11.3329174 |
19 | 17321596 | 17321596 | G | A | exonic | MYO9B | NA | nonsynonymous SNV | exonic | ENSG00000099331 | NA | nonsynonymous SNV | NA | NA | 19p13.11 | NA | NA | NA | NA | rs199522818 | 0.000199681 | NA | NA | NA | 0.0008 | NA | 0.0003 | 0.0007 | 0.73 | T | 0.051 | B | 0.004 | B | 0.387 | N | 1.000 | N | 0.695 | N | -1.77 | D | -0.867 | T | 0.320 | T | 1.4 | 10.62 | 5.01 | 2.321 | 3.151 | 12.407 | 1.399974 | 1.399974 | 0.5 | 0.000118 | 0.000712 | NA | NA | NA | 11.3329154 |
14 | 62249083 | 62249083 | C | T | exonic | SNAPC1 | NA | nonsynonymous SNV | exonic | ENSG00000023608 | NA | nonsynonymous SNV | Score=304;Name=lod=23 | NA | 14q23.2 | NA | NA | NA | NA | rs140945950 | NA | NA | NA | NA | NA | NA | 0.0006 | 0.0003 | 0.33 | T | 0.181 | B | 0.074 | B | 0.481 | N | 0.995 | D | 1.1 | L | . | . | -1.099 | T | 0.181 | T | 1.529 | 11.06 | 5.28 | 1.602 | 0.528 | 14.525 | 1.528943 | 1.528943 | 0.03 | 0.000349 | 0 | NA | NA | NA | 11.3323844 |
1 | 10068261 | 10068261 | A | G | exonic | RBP7 | NA | nonsynonymous SNV | exonic | ENSG00000162444 | NA | nonsynonymous SNV | Score=558;Name=lod=246 | NA | 1p36.22 | NA | NA | NA | NA | rs145618174 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0003 | 0.0005 | 0.03 | D | 0.042 | B | 0.031 | B | 0.012 | N | 0.658 | N | 1.65 | L | 3.13 | T | -1.093 | T | 0.021 | T | 2.279 | 13.58 | 2.99 | 0.656 | 4.396 | 6.305 | 2.278853 | 2.278853 | 0.03 | 0.000349 | 0.000454 | NA | NA | NA | 11.3316844 |
8 | 24774812 | 24774812 | G | A | exonic | NEFM | NA | nonsynonymous SNV | exonic | ENSG00000104722 | NA | nonsynonymous SNV | NA | NA | 8p21.2 | NA | NA | NA | NA | rs61751047 | 0.000998403 | 0.001 | NA | NA | 0.003 | NA | 0.0006 | 0.0034 | 0.29 | T | 0.002 | B | 0.001 | B | 0.075 | N | 1.000 | N | 2.35 | M | -1.61 | D | -0.171 | T | 0.702 | D | -0.907 | 0.424 | 1.68 | 0.499 | 1.785 | 6.416 | -0.906998 | NA | 0.05 | 0.000465 | 0.003404 | ID=COSM454338;OCCURENCE=1(breast) | NA | NA | 11.3312684 |
11 | 18740269 | 18740269 | G | A | exonic | IGSF22 | NA | nonsynonymous SNV | exonic | ENSG00000179057 | NA | nonsynonymous SNV | NA | NA | 11p15.1 | NA | NA | NA | NA | rs201466035 | 0.000599042 | 0.002 | NA | 0.0014 | NA | NA | 0.0007 | 0.0009 | 0.03 | D | 0.999 | D | 0.96 | D | 0.073 | U | 1.000 | N | 1.965 | M | 0.61 | T | -0.918 | T | 0.191 | T | 2.987 | 15.96 | -0.237 | -0.329 | 0.141 | 3.840 | 2.987141 | 2.987141 | 0.06 | 0.000855 | 0 | NA | NA | NA | 11.3297784 |
2 | 37599896 | 37599896 | A | C | exonic | QPCT | NA | nonsynonymous SNV | exonic | ENSG00000115828 | NA | nonsynonymous SNV | Score=577;Name=lod=295 | NA | 2p22.2 | NA | NA | NA | NA | rs139934664 | 0.00119808 | 0.003 | NA | 0.0029 | 0.0008 | NA | 0.0014 | 0.0026 | 0.26 | T | 0.149 | B | 0.125 | B | 0.000 | N | 1.000 | D | 1.28 | L | 0.79 | T | -1.048 | T | 0.111 | T | 2.15 | 13.14 | 2.09 | 0.108 | 3.308 | 14.373 | 2.149554 | 2.149554 | 0.14 | 0.001279 | 0.000681 | NA | NA | NA | 11.3276544 |
1 | 111957583 | 111957583 | A | G | exonic | OVGP1 | NA | nonsynonymous SNV | exonic | ENSG00000085465 | NA | nonsynonymous SNV | NA | NA | 1p13.2 | NA | Name=FOSL2,RXRA | NA | NA | rs1126656 | NA | NA | NA | NA | NA | NA | 0.0065 | 0.22 | 0.47 | T | 0.0 | B | 0.0 | B | . | . | 1.000 | P | -1.24 | N | 3.83 | T | -0.937 | T | 0.001 | T | -0.615 | 1.263 | -5.76 | -3.042 | -2.105 | 1.698 | -0.615397 | NA | 0.11 | NA | NA | NA | 0.051 | NA | 11.3268334 |
22 | 38219570 | 38219570 | C | G | exonic | GALR3 | NA | nonsynonymous SNV | exonic | ENSG00000128310 | NA | nonsynonymous SNV | Score=415;Name=lod=65 | NA | 22q13.1 | NA | NA | NA | NA | rs78650836 | 0.000998403 | 0.001 | NA | 0.0029 | 0.0008 | 0.001 | 0.0037 | 0.006 | 0.61 | T | 0.12 | B | 0.023 | B | 0.001 | N | 0.986 | N | 0.595 | N | 1.23 | T | -1.053 | T | 0.031 | T | 1.644 | 11.45 | 4.24 | 2.885 | 2.077 | 6.697 | 1.643789 | 1.643789 | 0.76 | 0.006047 | 0.001135 | NA | NA | NA | 11.3225864 |
15 | 89169738 | 89169738 | G | A | exonic | AEN | NA | nonsynonymous SNV | exonic | ENSG00000181026 | NA | nonsynonymous SNV | NA | NA | 15q26.1 | NA | Name=Pol2 | NA | NA | rs147477549 | 0.00159744 | 0.006 | NA | 0.0014 | 0.0008 | NA | 0.0028 | 0.01 | 0.76 | T | 0.006 | B | 0.002 | B | 0.007 | N | 1.000 | N | -0.255 | N | 2.31 | T | -1.010 | T | 0.011 | T | -0.57 | 1.433 | -6.78 | -1.137 | -1.168 | 3.393 | -0.569745 | NA | 0.48 | 0.003838 | 0.000455 | NA | NA | NA | 11.3206954 |
2 | 220097286 | 220097286 | G | A | exonic | ANKZF1 | NA | nonsynonymous SNV | exonic | ENSG00000163516 | NA | nonsynonymous SNV | NA | NA | 2q35 | NA | NA | NA | NA | rs200506719 | 0.00199681 | 0.004 | NA | NA | NA | 0.0061 | 0.0066 | 0.011 | 0.79 | T | 0.176 | B | 0.037 | B | 0.120 | N | 1.000 | N | 2.125 | M | 1.76 | T | -1.009 | T | 0.042 | T | 1.857 | 12.17 | 4.66 | 1.576 | 2.407 | 10.022 | 1.856758 | 1.856758 | 0.04 | 0.006072 | 0.002347 | NA | 0.007 | NA | 11.3166614 |
19 | 5772823 | 5772823 | G | C | exonic | CATSPERD | NA | nonsynonymous SNV | exonic | ENSG00000174898 | NA | nonsynonymous SNV | NA | NA | 19p13.3 | NA | NA | NA | NA | rs143660393 | 0.00239617 | 0.008 | NA | 0.0043 | NA | 0.001 | 0.0042 | 0.01 | 0.01 | D | 1.0 | D | 0.996 | D | 0.307 | N | 1.000 | N | 2.045 | M | 1.67 | T | -1.055 | T | 0.106 | T | 2.591 | 14.63 | 1.95 | 0.803 | 0.810 | 5.300 | 2.591332 | 2.591332 | 0.01 | 0.00531 | 0.00141 | NA | 0.036 | NA | 11.3158234 |
17 | 34190069 | 34190069 | C | A | exonic | C17orf66 | NA | nonsynonymous SNV | exonic | ENSG00000172653 | NA | nonsynonymous SNV | NA | NA | 17q12 | Score=822;Name=V$HNF4_01_B | NA | NA | NA | rs115641363 | 0.00279553 | 0.0099 | NA | 0.0029 | NA | 0.002 | 0.0048 | 0.011 | 0.54 | T | 0.386 | B | 0.232 | B | 0.382 | N | 1.000 | N | 0.805 | L | 0.82 | T | -1.056 | T | 0.052 | T | 0.701 | 7.741 | -5.35 | -1.235 | -1.167 | 2.722 | 0.701267 | NA | 0.17 | 0.006163 | 0.001589 | NA | 0.007 | NA | 11.3124704 |
2 | 121726366 | 121726366 | C | T | exonic | GLI2 | NA | synonymous SNV | exonic | ENSG00000074047 | NA | nonsynonymous SNV | Score=457;Name=lod=96 | NA | 2q14.2 | NA | NA | NA | NA | rs142793481 | 0.00359425 | 0.0089 | 0.002 | 0.0014 | NA | 0.0061 | 0.0073 | 0.01 | 0 | D | 0.008 | B | 0.002 | B | . | . | 1.000 | D | . | . | . | . | -0.994 | T | 0.122 | T | 4.124 | 21.3 | -4.85 | -0.744 | -0.851 | 14.435 | 4.124312 | 4.124312 | 0 | 0.005465 | 0.001589 | NA | NA | NA | 10.978335 |
13 | 98829175 | 98829175 | C | G | exonic | RNF113B | NA | nonsynonymous SNV | exonic | ENSG00000139797 | NA | nonsynonymous SNV | Score=702;Name=lod=953 | NA | 13q32.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.71 | T | 0.804 | P | 0.446 | B | 0.002 | U | 1.000 | N | 1.045 | L | 1.49 | T | -1.027 | T | 0.050 | T | 2.047 | 12.8 | 1.16 | 0.936 | 4.951 | 8.184 | 2.046654 | 2.046654 | 0.65 | NA | NA | NA | NA | NA | 10.8333334 |
7 | 142637601 | 142637601 | T | C | exonic | C7orf34 | NA | nonsynonymous SNV | exonic | ENSG00000165131 | NA | nonsynonymous SNV | NA | NA | 7q34 | NA | NA | NA | NA | rs148010864 | 0.000798722 | NA | NA | 0.0029 | 0.0015 | NA | 0.0005 | 0.0028 | 0.01 | D | 0.597 | P | 0.199 | B | 0.003 | N | 1.000 | N | 0.69 | N | . | . | -1.054 | T | 0.053 | T | 1.655 | 11.49 | 3.33 | 0.846 | 2.330 | 7.163 | 1.65483 | 1.65483 | 0.03 | 0.000698 | 0.000227 | NA | NA | NA | 10.8321354 |
2 | 73315604 | 73315604 | C | T | exonic | RAB11FIP5 | NA | nonsynonymous SNV | exonic | ENSG00000135631 | NA | nonsynonymous SNV | NA | NA | 2p13.2 | NA | NA | NA | NA | rs199517071 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.00008307 | 0.0026 | 0.34 | T | 0.998 | D | 0.747 | P | 0.258 | N | 1.000 | N | 1.61 | L | 0.91 | T | -1.032 | T | 0.126 | T | 2.298 | 13.64 | 3.28 | 1.074 | 0.087 | 5.835 | 2.298396 | 2.298396 | 0.58 | NA | NA | NA | NA | NA | 10.8312503 |
12 | 121593936 | 121593936 | C | T | exonic | P2RX7 | NA | nonsynonymous SNV | exonic | ENSG00000089041 | NA | nonsynonymous SNV | NA | NA | 12q24.31 | NA | NA | Name=3 | NA | rs28360445 | 0.000998403 | 0.002 | NA | 0.0043 | NA | NA | 0.0013 | 0.01 | 0 | D | 0.976 | D | 0.657 | P | 0.544 | N | 1.000 | N | 0 | N | 3.64 | T | -0.944 | T | 0.008 | T | 1.1 | 9.489 | -1.17 | -0.427 | -0.106 | 5.973 | 1.100292 | NA | 0 | 0.001977 | 0.000454 | NA | NA | NA | 10.8280564 |
5 | 171765882 | 171765882 | C | T | exonic | SH3PXD2B | NA | nonsynonymous SNV | exonic | ENSG00000174705 | NA | nonsynonymous SNV | NA | NA | 5q35.1 | Score=714;Name=V$P53_01 | NA | NA | NA | rs141103005 | 0.00239617 | 0.003 | NA | NA | NA | 0.0092 | 0.0013 | 0.0026 | . | . | 0.53 | P | 0.059 | B | 0.052 | N | 1.000 | N | 0.695 | N | 0.13 | T | -1.055 | T | 0.083 | T | -0.597 | 1.33 | -4.75 | -0.916 | 1.183 | 1.810 | -0.59705 | NA | 0.06 | 0.001279 | 0.000454 | NA | 0.043 | NA | 10.8277544 |
19 | 5783515 | 5783515 | G | A | exonic | PRR22 | NA | nonsynonymous SNV | exonic | ENSG00000212123 | NA | nonsynonymous SNV | NA | NA | 19p13.3 | NA | Name=Pol2-4H8,Pol2 | NA | NA | rs34572934 | 0.000998403 | 0.003 | NA | 0.0029 | NA | NA | 0.0016 | 0.0028 | 0.17 | T | 0.999 | D | 0.889 | P | . | . | 1.000 | N | 0.975 | L | -0.04 | T | -0.890 | T | 0.246 | T | 2.499 | 14.32 | 2.36 | 0.717 | 0.436 | 7.774 | 2.4991 | 2.4991 | 0.02 | 0.002461 | 0.002537 | NA | 0.036 | NA | 10.8262724 |
2 | 71360431 | 71360431 | G | A | exonic | MPHOSPH10 | NA | nonsynonymous SNV | exonic | ENSG00000124383 | NA | nonsynonymous SNV | NA | NA | 2p13.3 | NA | NA | NA | NA | rs150757204 | 0.000998403 | 0.003 | NA | 0.0029 | NA | NA | 0.0017 | 0.0031 | 0.18 | T | 0.753 | P | 0.195 | B | 0.622 | N | 1.000 | N | 1.355 | L | 2.93 | T | -1.042 | T | 0.028 | T | 1.763 | 11.85 | 4.16 | 2.528 | 1.821 | 10.848 | 1.762625 | 1.762625 | 0.27 | 0.00314 | 0.000227 | NA | NA | NA | 10.8254934 |
1 | 156641746 | 156641746 | C | G | exonic | NES | NA | nonsynonymous SNV | exonic | ENSG00000132688 | NA | nonsynonymous SNV | NA | NA | 1q23.1 | NA | NA | NA | NA | rs140652000 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0032 | 0.0041 | 0 | D | 0.915 | P | 0.321 | B | . | . | 1.000 | N | 1.525 | L | -2.27 | D | -0.647 | T | 0.294 | T | 2.044 | 12.79 | -3.54 | -0.414 | -0.784 | 7.417 | 2.043651 | 2.043651 | 0 | 0.00407 | 0 | NA | NA | NA | 10.8250634 |
15 | 64970496 | 64970496 | C | T | exonic | ZNF609 | NA | nonsynonymous SNV | exonic | ENSG00000180357 | NA | nonsynonymous SNV | NA | NA | 15q22.31 | NA | NA | NA | NA | rs146522359 | 0.00139776 | 0.004 | NA | 0.0029 | 0.0008 | NA | 0.0022 | 0.011 | 0.08 | T | 0.567 | P | 0.092 | B | 0.311 | N | 1.000 | N | 0.345 | N | 0.94 | T | -1.039 | T | 0.062 | T | 1.999 | 12.64 | 5.62 | 2.640 | 2.921 | 12.937 | 1.999185 | 1.999185 | 0.02 | 0.004652 | 0.001362 | NA | 0.007 | NA | 10.8224814 |
3 | 47452676 | 47452676 | G | A | exonic | PTPN23 | NA | nonsynonymous SNV | exonic | ENSG00000076201 | NA | nonsynonymous SNV | NA | NA | 3p21.31 | Score=866;Name=V$YY1_01 | NA | NA | NA | rs138329311 | 0.00359425 | 0.0099 | NA | 0.0086 | 0.0008 | 0.001 | 0.0078 | 0.01 | 0.54 | T | 0.909 | P | 0.128 | B | 0.000 | N | 1.000 | N | 0.345 | N | 3.92 | T | -0.855 | T | 0.004 | T | 1.034 | 9.224 | 2.36 | 0.611 | 2.827 | 8.304 | 1.03403 | NA | 0.47 | 0.009848 | 0.00117 | NA | NA | NA | 10.8057854 |
20 | 42089613 | 42089613 | G | A | exonic | SRSF6 | NA | synonymous SNV | exonic | ENSG00000124193 | NA | synonymous SNV | Score=536;Name=lod=201 | NA | 20q13.11 | Score=879;Name=V$MAZR_01 | Name=HEY1,Pol2-4H8 | Name=6 | NA | NA | NA | NA | NA | NA | NA | NA | 0.0001 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.305371 | NA | NA | NA | NA | NA | NA | NA | 10.6665666 |
19 | 9006663 | 9006663 | C | T | exonic | MUC16 | NA | synonymous SNV | exonic | ENSG00000181143 | NA | synonymous SNV | NA | NA | 19p13.2 | Score=748;Name=V$NRSF_01 | NA | NA | NA | rs376322394 | 0.000998403 | NA | 0.001 | NA | 0.0023 | 0.001 | 0.0004 | 0.0005 | . | . | . | . | . | . | . | . | . | . | . | . | . | . | -1.037 | T | 0.059 | T | -0.582 | 1.387 | -5.98 | -5.897 | -11.109 | 4.038 | -0.581746 | NA | NA | 0 | 0.000502 | NA | NA | NA | 10.6662666 |
2 | 182783550 | 182783550 | A | G | exonic | SSFA2 | NA | synonymous SNV | exonic | ENSG00000138434 | NA | synonymous SNV | Score=625;Name=lod=462 | NA | 2q31.3 | NA | Name=MafK_(ab50322) | NA | NA | rs78894663 | 0.00579073 | 0.001 | NA | 0.0029 | 0.0197 | NA | 0.0025 | 0.027 | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | -0.998 | T | 0.087 | T | 1.205 | 9.892 | 2.52 | 0.205 | 0.624 | 9.081 | 1.204576 | NA | NA | 0.000116 | 0.026782 | NA | NA | NA | 10.6630506 |
5 | 102343291 | 102343291 | C | A | exonic | PAM | NA | synonymous SNV | exonic | ENSG00000145730 | NA | synonymous SNV | Score=599;Name=lod=364 | NA | 5q21.1 | Score=861;Name=V$IRF1_01 | NA | NA | NA | rs34746026 | 0.00559105 | 0.003 | NA | 0.0014 | NA | 0.0245 | 0.005 | 0.011 | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | -0.979 | T | 0.124 | T | 0.911 | 8.706 | 3.35 | 0.720 | 0.328 | 0.892 | 0.910841 | NA | NA | 0.004419 | 0.000908 | NA | 0.007 | NA | 10.6542476 |
3 | 167248948 | 167248948 | T | C | exonic | WDR49 | NA | nonsynonymous SNV | exonic | ENSG00000174776 | NA | nonsynonymous SNV | Score=431;Name=lod=75 | NA | 3q26.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.43 | T | 0.008 | B | 0.001 | B | 0.081 | N | 1.000 | N | 0.925 | L | 1.63 | T | -1.032 | T | 0.066 | T | -0.546 | 1.524 | 3.15 | 0.398 | 0.888 | 7.950 | -0.546232 | NA | 0.12 | NA | NA | NA | NA | NA | 10.3333334 |
4 | 169393005 | 169393005 | C | T | exonic | DDX60L | NA | nonsynonymous SNV | exonic | ENSG00000181381 | NA | nonsynonymous SNV | NA | NA | 4q32.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.07 | T | 0.341 | B | 0.124 | B | 0.643 | U | 1.000 | N | 1.1 | L | 2.3 | T | -1.024 | T | 0.035 | T | 2.264 | 13.53 | 2.31 | 0.176 | 4.759 | 9.113 | 2.264016 | 2.264016 | 0.02 | NA | NA | NA | NA | NA | 10.3333334 |
6 | 126210903 | 126210903 | G | T | exonic | NCOA7 | NA | nonsynonymous SNV | exonic | ENSG00000111912 | NA | nonsynonymous SNV | NA | NA | 6q22.32 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.23 | T | 0.1 | B | 0.054 | B | 0.283 | N | 1.000 | N | 0.805 | L | 1.46 | T | -1.028 | T | 0.018 | T | -0.697 | 0.983 | 2.66 | 1.434 | 0.677 | 4.318 | -0.696532 | NA | 0 | NA | NA | NA | NA | NA | 10.3333334 |
8 | 30706055 | 30706055 | G | C | exonic | TEX15 | NA | nonsynonymous SNV | exonic | ENSG00000133863 | NA | nonsynonymous SNV | NA | NA | 8p12 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | D | 0.004 | B | 0.006 | B | 0.082 | N | 1.000 | N | -0.11 | N | 2.82 | T | -1.004 | T | 0.010 | T | 1.374 | 10.52 | -3.57 | -0.583 | -0.485 | 0.367 | 1.374262 | 1.374262 | 0.18 | NA | NA | NA | NA | NA | 10.3333334 |
1 | 235602095 | 235602095 | G | C | exonic | TBCE | NA | nonsynonymous SNV | exonic | ENSG00000116957 | NA | nonsynonymous SNV | Score=389;Name=lod=51 | NA | 1q42.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008239 | NA | 0.62 | T | 0.001 | B | 0.003 | B | 0.024 | N | 0.720 | N | 1.24 | L | 1.93 | T | -1.028 | T | 0.040 | T | 0.322 | 5.748 | 2.56 | 0.906 | -0.018 | 7.561 | 0.322375 | NA | 0.47 | NA | NA | NA | NA | NA | 10.3333252 |
8 | 145112442 | 145112442 | G | A | exonic | OPLAH | NA | nonsynonymous SNV | exonic | ENSG00000178814 | NA | nonsynonymous SNV | NA | NA | 8q24.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000039 | NA | 0.27 | T | 0.009 | B | 0.007 | B | 0.101 | N | 0.980 | N | . | . | . | . | -0.900 | T | 0.106 | T | 2.496 | 14.3 | 3.2 | 2.025 | -0.012 | 12.217 | 2.495536 | 2.495536 | 0.28 | NA | NA | NA | NA | NA | 10.3332944 |
15 | 56385886 | 56385886 | T | C | exonic | RFX7 | NA | nonsynonymous SNV | exonic | ENSG00000181827 | NA | nonsynonymous SNV | Score=696;Name=lod=901 | NA | 15q21.3 | NA | NA | NA | NA | rs375177046 | 0.000199681 | NA | NA | NA | 0.0008 | NA | 0.00009958 | 0.0003 | 0.75 | T | 0.0 | B | 0.0 | B | 0.031 | N | 0.507 | N | -0.55 | N | 0.77 | T | -1.018 | T | 0.039 | T | -1.133 | 0.115 | -8.18 | -1.633 | -0.341 | 16.183 | -1.132757 | NA | 0.82 | 0 | 0.000262 | NA | NA | NA | 10.3332338 |
1 | 175049305 | 175049305 | C | A | exonic | TNN | NA | nonsynonymous SNV | exonic | ENSG00000120332 | NA | nonsynonymous SNV | NA | NA | 1q25.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.0001 | NA | 0.09 | T | 0.04 | B | 0.063 | B | 0.306 | N | 1.000 | N | 0.6 | N | 3.97 | T | -0.954 | T | 0.011 | T | 2.004 | 12.66 | 3.7 | 0.704 | 1.392 | 12.292 | 2.004075 | 2.004075 | 0.03 | NA | NA | NA | NA | NA | 10.3332334 |
19 | 11486643 | 11486643 | C | G | exonic | SWSAP1 | NA | nonsynonymous SNV | exonic | ENSG00000173928 | NA | nonsynonymous SNV | NA | NA | 19p13.2 | NA | Name=Pol2 | NA | NA | rs150033461 | NA | NA | NA | NA | NA | NA | 0.0002 | NA | 0.12 | T | 0.164 | B | 0.027 | B | 0.527 | N | 1.000 | N | 0.895 | L | 0.86 | T | -1.034 | T | 0.076 | T | 2.15 | 13.15 | 2.86 | 1.051 | 0.002 | 3.343 | 2.150013 | 2.150013 | 0.05 | NA | NA | NA | NA | NA | 10.3331334 |
10 | 126715565 | 126715565 | C | T | exonic | CTBP2 | NA | nonsynonymous SNV | exonic | ENSG00000175029 | NA | nonsynonymous SNV | NA | NA | 10q26.13 | NA | NA | NA | NA | rs143281706 | 0.000199681 | NA | NA | NA | NA | 0.001 | 0.00009146 | 0.0001 | 0 | D | 0.957 | D | 0.312 | B | 0.491 | N | 1.000 | N | . | . | -1.7 | D | -0.635 | T | 0.336 | T | 1.344 | 10.42 | 1.45 | 0.204 | 0.040 | 2.657 | 1.343945 | 1.343945 | 0 | 0.000116 | 0 | NA | NA | NA | 10.3331259 |
20 | 744428 | 744428 | G | A | exonic | SLC52A3 | NA | nonsynonymous SNV | exonic | ENSG00000101276 | NA | nonsynonymous SNV | Score=333;Name=lod=30 | NA | 20p13 | Score=847;Name=V$ER_Q6 | NA | NA | NA | rs150159842 | 0.000998403 | NA | NA | 0.0072 | NA | NA | 0.0002 | 0.0002 | 0.05 | D | 0.003 | B | 0.003 | B | 0.875 | N | 1.000 | N | 1.39 | L | -0.59 | T | -0.884 | T | 0.211 | T | 1.788 | 11.94 | -0.151 | 0.077 | 0.503 | 4.446 | 1.788492 | 1.788492 | 0.04 | 0.000116 | 0.000227 | NA | NA | NA | 10.3330174 |
22 | 50298100 | 50298100 | G | C | exonic | ALG12 | NA | nonsynonymous SNV | exonic | ENSG00000182858 | NA | nonsynonymous SNV | NA | NA | 22q13.33 | NA | NA | NA | NA | rs182006999 | 0.000399361 | NA | NA | NA | NA | 0.002 | 0.0003 | 0.0001 | 0.12 | T | 0.26 | B | 0.207 | B | 0.400 | N | 1.000 | N | 1.33 | L | -0.07 | T | -1.077 | T | 0.061 | T | -0.482 | 1.783 | -9.54 | -4.196 | -4.606 | 1.528 | -0.481512 | NA | 0.04 | 0.000116 | 0 | NA | NA | NA | 10.3329174 |
9 | 125673569 | 125673569 | C | G | exonic | ZBTB6 | NA | nonsynonymous SNV | exonic | ENSG00000186130 | NA | nonsynonymous SNV | Score=608;Name=lod=394 | NA | 9q33.2 | NA | NA | NA | NA | rs143894946 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.0002 | 0.0028 | 0.23 | T | 0.048 | B | 0.027 | B | 0.000 | D | 0.981 | D | 1.645 | L | 2.95 | T | -1.040 | T | 0.024 | T | 1.612 | 11.35 | -0.222 | -0.008 | 0.800 | 10.387 | 1.612424 | 1.612424 | 0.07 | 0.000233 | 0 | NA | NA | NA | 10.3329004 |
10 | 101639648 | 101639648 | C | T | exonic | DNMBP | NA | nonsynonymous SNV | exonic | ENSG00000107554 | NA | nonsynonymous SNV | NA | NA | 10q24.2 | NA | NA | NA | NA | rs199968530 | NA | NA | NA | NA | NA | NA | 0.0003 | 0.0003 | 0.48 | T | 0.001 | B | 0.001 | B | 0.184 | N | 1.000 | N | 0.345 | N | 2.8 | T | -1.071 | T | 0.038 | T | 1.458 | 10.82 | -9.7 | -1.438 | -5.963 | 5.072 | 1.458087 | 1.458087 | 0.68 | 0.000349 | 0 | NA | NA | NA | 10.3326844 |
19 | 39915896 | 39915896 | A | G | exonic | PLEKHG2 | NA | nonsynonymous SNV | exonic | ENSG00000090924 | NA | nonsynonymous SNV | Score=333;Name=lod=30 | NA | 19q13.2 | Score=846;Name=V$NFKB_C | Name=Pol2 | NA | NA | rs199999525 | 0.000798722 | NA | NA | 0.0058 | NA | NA | 0.0003 | 0.0004 | . | . | 0.005 | B | 0.011 | B | 0.083 | N | 0.977 | N | 1.185 | L | -0.56 | T | -0.982 | T | 0.183 | T | 1.914 | 12.36 | 1.57 | 0.265 | 0.641 | 6.420 | 1.913548 | 1.913548 | 0.13 | 0.000356 | 0 | NA | NA | NA | 10.3326774 |
11 | 57886441 | 57886441 | C | T | exonic | OR9I1 | NA | nonsynonymous SNV | exonic | ENSG00000172377 | NA | nonsynonymous SNV | NA | NA | 11q12.1 | NA | NA | NA | NA | rs139300657 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.0003 | 0.0028 | 1 | T | 0.429 | B | 0.099 | B | 0.000 | D | 1.000 | N | -0.915 | N | 9.1 | T | -1.099 | T | 0.000 | T | -0.802 | 0.672 | 4.03 | 1.433 | 0.034 | 7.138 | -0.801673 | NA | 0.71 | 0.000582 | 0.000227 | ID=COSM415544;OCCURENCE=1(urinary_tract) | NA | NA | 10.3324514 |
6 | 24843131 | 24843131 | C | T | exonic | FAM65B | NA | nonsynonymous SNV | exonic | ENSG00000111913 | NA | nonsynonymous SNV | Score=516;Name=lod=166 | NA | 6p22.3 | NA | NA | NA | NA | rs201962345 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.0003 | 0.0028 | 0.41 | T | 0.069 | B | 0.039 | B | 0.035 | N | 0.999 | D | 1.24 | L | 1.32 | T | -1.087 | T | 0.029 | T | 2.801 | 15.33 | 1.96 | 0.607 | 2.841 | 9.142 | 2.801008 | 2.801008 | 0.01 | 0.000732 | 0 | NA | NA | NA | 10.3323014 |
15 | 43568715 | 43568715 | T | C | exonic | TGM7 | NA | nonsynonymous SNV | exonic | ENSG00000159495 | NA | nonsynonymous SNV | Score=507;Name=lod=154 | NA | 15q15.2 | NA | NA | NA | NA | rs148274809 | 0.000599042 | 0.001 | NA | 0.0014 | NA | 0.001 | 0.0018 | 0.011 | 1 | T | 0.003 | B | 0.007 | B | 0.336 | N | 0.951 | N | 0.915 | L | -0.19 | T | -0.993 | T | 0.122 | T | 2.343 | 13.79 | 3.3 | 0.647 | 1.305 | 8.539 | 2.343238 | 2.343238 | 0.54 | 0.001861 | 0.000227 | NA | 0.007 | NA | 10.3286724 |
12 | 123187313 | 123187313 | C | G | exonic | HCAR2 | NA | nonsynonymous SNV | exonic | ENSG00000182782 | NA | nonsynonymous SNV | NA | NA | 12q24.31 | Score=815;Name=V$CDPCR3_01 | NA | NA | NA | rs144376493 | 0.00119808 | 0.005 | NA | 0.0014 | NA | NA | 0.0018 | NA | 0.3 | T | 0.008 | B | 0.016 | B | 0.324 | N | 1.000 | N | 1.15 | L | 1.06 | T | -1.047 | T | 0.078 | T | -0.45 | 1.915 | -9.83 | -2.003 | -0.136 | 14.223 | -0.449758 | NA | 0.61 | NA | NA | NA | NA | NA | 10.3265334 |
12 | 123187314 | 123187314 | C | T | exonic | HCAR2 | NA | nonsynonymous SNV | exonic | ENSG00000182782 | NA | nonsynonymous SNV | NA | NA | 12q24.31 | Score=815;Name=V$CDPCR3_01 | NA | NA | NA | rs141052038 | 0.00119808 | 0.005 | NA | 0.0014 | NA | NA | 0.0019 | NA | 0.26 | T | 0.005 | B | 0.004 | B | 0.324 | N | 1.000 | N | 0.645 | N | 1.07 | T | -1.063 | T | 0.047 | T | -0.363 | 2.29 | -10.5 | -2.694 | -1.276 | 1.363 | -0.362698 | NA | 0.6 | NA | NA | NA | NA | NA | 10.3264334 |
2 | 130931095 | 130931095 | G | A | exonic | SMPD4 | NA | synonymous SNV | exonic | ENSG00000136699 | NA | stopgain | Score=448;Name=lod=88 | NA | 2q21.1 | NA | NA | NA | NA | rs145230616 | 0.00638978 | 0.004 | NA | 0.0043 | 0.0038 | 0.0204 | 0.004 | 0.011 | 0.92 | T | . | . | . | . | . | . | 1.000 | D | . | . | . | . | . | . | . | . | 4.102 | 21.1 | -4.12 | -0.677 | 0.362 | 1.129 | 4.102182 | 4.102182 | 1 | 0.001163 | 0.00227 | NA | 0.007 | NA | 10.3241703 |
3 | 39307832 | 39307832 | T | C | exonic | CX3CR1 | NA | nonsynonymous SNV | exonic | ENSG00000168329 | NA | nonsynonymous SNV | NA | NA | 3p22.2 | Score=790;Name=V$CMYB_01 | NA | NA | NA | rs199811198 | 0.000798722 | 0.003 | NA | NA | NA | 0.001 | 0.0029 | 0.0041 | 0 | D | 0.166 | B | 0.096 | B | 0.204 | N | 1.000 | N | 0.41 | N | 1.22 | T | -1.029 | T | 0.054 | T | 1.992 | 12.62 | 4.23 | 0.897 | -0.084 | 6.122 | 1.991676 | 1.991676 | 0.1 | 0.004063 | 0.000248 | NA | NA | NA | 10.3233704 |
4 | 70146423 | 70146423 | G | A | exonic | UGT2B28 | NA | nonsynonymous SNV | exonic | ENSG00000135226 | NA | nonsynonymous SNV | NA | NA | 4q13.2 | NA | NA | NA | NA | rs150261084 | 0.00139776 | 0.002 | NA | 0.0058 | 0.0008 | NA | 0.0032 | 0.01 | 0.62 | T | 0.24 | B | 0.102 | B | 0.190 | U | 1.000 | N | -0.345 | N | 0.06 | T | -1.041 | T | 0.045 | T | -2.019 | 0.006 | -4.36 | -4.831 | -7.778 | 1.429 | -2.019228 | NA | 0.53 | 0.005432 | 0.001719 | NA | NA | NA | 10.3227014 |
11 | 68747507 | 68747507 | T | G | exonic | MRGPRD | NA | nonsynonymous SNV | exonic | ENSG00000172938 | NA | nonsynonymous SNV | NA | NA | 11q13.3 | NA | Name=ELF1_(SC-631) | NA | NA | rs143309852 | 0.00259585 | 0.004 | NA | 0.0043 | 0.0008 | 0.0051 | 0.0038 | 0.01 | 0.19 | T | 0.007 | B | 0.004 | B | 0.030 | U | 1.000 | N | 1.495 | L | 3.76 | T | -1.009 | T | 0.010 | T | 1.234 | 10.01 | -9.11 | -1.649 | 0.162 | 9.018 | 1.233728 | 1.233728 | 0.04 | 0.003697 | 0.001205 | NA | NA | NA | 10.3218364 |
3 | 171452701 | 171452701 | C | T | exonic | PLD1 | NA | nonsynonymous SNV | exonic | ENSG00000075651 | NA | nonsynonymous SNV | NA | NA | 3q26.31 | NA | NA | NA | NA | rs148972595 | 0.00239617 | 0.005 | NA | 0.0072 | 0.0008 | 0.001 | 0.0025 | 0.01 | 0.28 | T | 0.013 | B | 0.022 | B | 0.000 | N | 1.000 | N | 1.115 | L | 3.32 | T | -1.059 | T | 0.039 | T | 2.181 | 13.25 | 4.01 | 1.436 | 1.468 | 9.058 | 2.181483 | 2.181483 | 0.07 | 0.004419 | 0.000908 | NA | 0.007 | NA | 10.3214144 |
19 | 8171067 | 8171067 | C | T | exonic | FBN3 | NA | nonsynonymous SNV | exonic | ENSG00000142449 | NA | nonsynonymous SNV | Score=572;Name=lod=281 | NA | 19p13.2 | NA | NA | NA | NA | rs151274163 | 0.000998403 | 0.005 | NA | NA | NA | NA | 0.0058 | 0.01 | 1 | T | 0.0 | B | 0.0 | B | 0.023 | N | 0.994 | N | 0.475 | N | -3.77 | D | -0.509 | T | 0.512 | D | -1.831 | 0.009 | -0.849 | -0.252 | -0.293 | 11.606 | -1.830866 | NA | 1 | 0.005465 | 0.002724 | ID=COSM1157870;OCCURENCE=1(pancreas) | NA | NA | 10.3170684 |
2 | 220099713 | 220099713 | C | T | exonic | ANKZF1 | NA | nonsynonymous SNV | exonic | ENSG00000163516 | NA | nonsynonymous SNV | NA | NA | 2q35 | NA | NA | NA | NA | rs140395841 | 0.00199681 | 0.004 | NA | NA | NA | 0.0061 | 0.0066 | 0.011 | 0.21 | T | 0.048 | B | 0.01 | B | 0.106 | N | 1.000 | N | 1.87 | L | 1.9 | T | -1.087 | T | 0.050 | T | -0.372 | 2.247 | 5.2 | 2.705 | 1.800 | 15.585 | -0.372488 | NA | 0.1 | 0.005978 | 0.002217 | NA | 0.007 | NA | 10.3167554 |
8 | 38869207 | 38869207 | G | A | exonic | ADAM9 | NA | nonsynonymous SNV | exonic | ENSG00000168615 | NA | nonsynonymous SNV | Score=498;Name=lod=141 | NA | 8p11.22 | Score=833;Name=V$OCT1_02 | NA | NA | NA | rs61753672 | 0.00399361 | 0.005 | NA | 0.0029 | 0.0008 | 0.0123 | 0.0064 | 0.011 | 0.97 | T | 0.084 | B | 0.097 | B | 0.003 | N | 0.633 | N | 0.28 | N | 3.24 | T | -0.951 | T | 0.008 | T | 0.349 | 5.892 | 1.19 | 0.469 | 1.084 | 6.302 | 0.348613 | NA | 0.3 | 0.00593 | 0.000454 | NA | 0.007 | NA | 10.3160034 |
16 | 723506 | 723506 | C | T | exonic | RHOT2 | NA | nonsynonymous SNV | exonic | ENSG00000140983 | NA | nonsynonymous SNV | NA | NA | 16p13.3 | NA | NA | Name=4 | NA | rs147973504 | 0.00279553 | 0.006 | NA | 0.0029 | NA | 0.0061 | 0.0053 | 0.011 | 0.12 | T | 0.021 | B | 0.017 | B | 0.007 | N | 0.733 | N | 0.345 | N | 2.58 | T | -1.024 | T | 0.017 | T | 1.405 | 10.63 | 4.64 | 2.139 | 0.468 | 14.996 | 1.404865 | 1.404865 | 0.04 | 0.006401 | 0.000909 | ID=COSM328360;OCCURENCE=1(pancreas) | 0.007 | NA | 10.3156324 |
19 | 14001206 | 14001206 | G | A | exonic | C19orf57 | NA | nonsynonymous SNV | exonic | ENSG00000132016 | NA | nonsynonymous SNV | NA | NA | 19p13.12 | NA | NA | NA | NA | rs144502446 | 0.00279553 | 0.0089 | NA | 0.0014 | 0.0023 | 0.001 | 0.0072 | 0.011 | 0.25 | T | 0.0 | B | 0.001 | B | . | . | 1.000 | N | 0.145 | N | 1.67 | T | -1.066 | T | 0.020 | T | -0.896 | 0.447 | -5.29 | -3.561 | -4.466 | 0.575 | -0.895879 | NA | 0.27 | 0.006409 | 0.001136 | NA | 0.007 | NA | 10.3108244 |
5 | 52240850 | 52240850 | C | A | exonic | ITGA1 | NA | nonsynonymous SNV | exonic | ENSG00000213949 | NA | nonsynonymous SNV | Score=450;Name=lod=90 | NA | 5q11.2 | Score=791;Name=V$MEF2_02 | NA | Name=20 | NA | rs151102756 | 0.00539137 | 0.0129 | 0.001 | 0.0014 | NA | 0.0123 | 0.0072 | 0.01 | 0.41 | T | 0.136 | B | 0.017 | B | 0.042 | N | 0.860 | N | 0.64 | N | 0.79 | T | -1.103 | T | 0.039 | T | 2.011 | 12.68 | 0.424 | 0.381 | -0.592 | 0.543 | 2.010677 | 2.010677 | 0.12 | 0.007907 | 0.001362 | NA | NA | NA | 10.3053264 |
22 | 21133831 | 21133831 | C | A | exonic | SERPIND1 | NA | nonsynonymous SNV | exonic | ENSG00000099937 | NA | nonsynonymous SNV | NA | NA | 22q11.21 | NA | NA | NA | NA | rs5903 | 0.00339457 | 0.0119 | NA | 0.0043 | NA | 0.002 | 0.0069 | 0.0097 | 1 | T | 0.0 | B | 0.0 | B | 0.001 | N | 1.000 | N | -0.295 | N | -1.53 | D | -0.812 | T | 0.089 | T | 0.164 | 4.885 | -11.5 | -1.815 | -2.171 | 7.576 | 0.164489 | NA | 1 | 0.009651 | 0.00227 | NA | NA | NA | 10.3048824 |
7 | 44610376 | 44610376 | G | A | exonic | DDX56 | NA | stopgain | exonic | ENSG00000136271 | NA | stopgain | NA | NA | 7p13 | Score=730;Name=V$PPARG_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008267 | NA | 0.36 | T | . | . | . | . | 0.176 | N | 1.000 | N | . | . | . | . | . | . | . | . | 14.196 | 48 | 1.5 | 0.256 | 0.874 | 13.216 | 14.195918 | 14.195918 | 0.51 | NA | NA | NA | NA | NA | 9.9999917 |
9 | 118162670 | 118162670 | C | A | exonic | DEC1 | NA | nonsynonymous SNV | exonic | ENSG00000173077 | NA | nonsynonymous SNV | NA | NA | 9q33.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008293 | NA | 0 | D | 0.722 | P | 0.156 | B | . | . | 1.000 | N | . | . | 0.19 | T | -1.023 | T | 0.112 | T | 0.032 | 4.178 | -1.37 | -0.540 | -0.199 | 6.563 | 0.031525 | NA | NA | NA | NA | ID=COSM202034;OCCURENCE=1(large_intestine) | NA | NA | 9.8333251 |
6 | 90368431 | 90368431 | T | A | exonic | MDN1 | NA | nonsynonymous SNV | exonic | ENSG00000112159 | NA | nonsynonymous SNV | Score=272;Name=lod=17 | NA | 6q15 | NA | NA | NA | NA | rs139030773 | NA | NA | NA | NA | NA | NA | 0.00004942 | 0.0005 | 0.36 | T | 0.759 | P | 0.202 | B | 0.000 | D | 0.668 | N | 1.1 | L | 3.8 | T | -0.820 | T | 0.004 | T | 1.953 | 12.49 | 1.02 | 0.361 | 0.103 | 7.265 | 1.952733 | 1.952733 | 0.06 | 0.000116 | 0.000454 | NA | NA | NA | 9.833168 |
1 | 161018422 | 161018422 | C | G | exonic | ARHGAP30 | NA | nonsynonymous SNV | exonic | ENSG00000186517 | NA | nonsynonymous SNV | NA | NA | 1q23.3 | NA | NA | NA | NA | rs61733353 | 0.0081869 | NA | NA | 0.0029 | 0.0295 | NA | 0.0024 | 0.019 | 0.03 | D | 0.553 | P | 0.343 | B | 0.438 | N | 1.000 | N | 2.015 | M | 3.01 | T | -1.021 | T | 0.037 | T | 0.369 | 6.003 | 0.756 | 0.282 | -0.310 | 4.019 | 0.369047 | NA | 0.03 | 0.000116 | 0.018838 | NA | 0.007 | NA | 9.8308174 |
1 | 3329051 | 3329051 | G | A | exonic | PRDM16 | NA | nonsynonymous SNV | exonic | ENSG00000142611 | NA | nonsynonymous SNV | Score=582;Name=lod=308 | NA | 1p36.32 | NA | NA | NA | NA | rs149333409 | 0.000798722 | 0.003 | NA | 0.0014 | NA | NA | 0.0012 | 0.01 | 0.07 | T | 0.8 | P | 0.259 | B | 0.071 | U | 0.920 | N | 1.87 | L | 3.45 | T | -1.031 | T | 0.012 | T | 0.201 | 5.084 | 1.68 | 0.241 | 1.877 | 5.922 | 0.201188 | NA | 0.02 | 0.002402 | 0 | NA | NA | NA | 9.8267314 |
1 | 67279835 | 67279835 | G | A | exonic | WDR78 | NA | nonsynonymous SNV | exonic | ENSG00000152763 | NA | nonsynonymous SNV | NA | NA | 1p31.3 | NA | NA | NA | NA | rs148734945 | 0.000998403 | 0.004 | NA | 0.0014 | NA | NA | 0.0019 | 0.01 | 0.03 | D | 0.498 | P | 0.153 | B | 0.335 | N | 1.000 | N | 0.345 | N | 0.35 | T | -0.993 | T | 0.073 | T | 0.622 | 7.347 | 1.77 | 0.293 | 1.177 | 8.201 | 0.622068 | NA | 0.01 | 0.003505 | 0.000454 | NA | 0.007 | NA | 9.8239284 |
10 | 105037868 | 105037868 | C | T | exonic | INA | NA | synonymous SNV | exonic | ENSG00000148798 | NA | synonymous SNV | Score=791;Name=lod=2184 | NA | 10q24.33 | Score=847;Name=V$ELK1_01 | NA | Name=3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.183071 | NA | NA | NA | NA | NA | NA | NA | 9.6666666 |
19 | 10939816 | 10939816 | C | T | exonic | DNM2 | NA | synonymous SNV | exonic | ENSG00000079805 | NA | synonymous SNV | Score=552;Name=lod=233 | NA | 19p13.2 | NA | Name=CTCF_(SC-5916),CTCF,ZBTB33 | Name=8 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.706356 | NA | NA | NA | NA | NA | NA | NA | 9.6666666 |
17 | 7406476 | 7406476 | G | C | exonic | POLR2A | NA | synonymous SNV | exonic | ENSG00000181222 | NA | synonymous SNV | Score=560;Name=lod=251 | NA | 17p13.1 | NA | Name=Rad21,Pol2-4H8,CTCF,SMC3_(ab9263),CTCF_(SC-5916),CTCF_(C-20) | Name=14 | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008624 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.103732 | NA | NA | NA | NA | NA | NA | NA | 9.666658 |
6 | 116325143 | 116325143 | G | A | exonic | FRK | NA | synonymous SNV | exonic | ENSG00000111816 | NA | synonymous SNV | Score=540;Name=lod=209 | NA | 6q22.1 | NA | Name=PU.1,JunD | Name=7 | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001657 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.4737 | NA | NA | NA | NA | NA | NA | NA | 9.66665 |
11 | 116661330 | 116661330 | G | A | exonic | APOA5 | NA | synonymous SNV | exonic | ENSG00000110243 | NA | synonymous SNV | Score=433;Name=lod=77 | NA | 11q23.3 | Score=960;Name=V$USF_C | NA | Name=8 | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001861 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.832431 | NA | NA | NA | NA | NA | NA | NA | 9.666648 |
11 | 76867745 | 76867745 | G | A | exonic | MYO7A | NA | synonymous SNV | exonic | ENSG00000137474 | NA | synonymous SNV | Score=525;Name=lod=181 | NA | 11q13.5 | Score=734;Name=V$PPARG_01 | NA | NA | Score=87;Name=431899_0_+_87 | rs34477144 | 0.000998403 | 0.001 | NA | 0.0014 | 0.0015 | 0.001 | 0.0025 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.103259 | NA | NA | 0.002724 | 0 | NA | NA | CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000036177.1;CLNDSDB=.;CLNDSDBID=. | 9.6604426 |
7 | 151859523 | 151859523 | G | A | exonic | MLL3 | NA | synonymous SNV | exonic | ENSG00000055609 | NA | synonymous SNV | NA | NA | 7q36.1 | NA | NA | Name=3 | NA | rs140482040 | 0.00119808 | 0.004 | NA | 0.0029 | NA | NA | 0.0029 | 0.0045 | . | . | . | . | . | . | . | . | 1.000 | N | . | . | . | . | . | . | . | . | 1.401 | 10.62 | 3.4 | 1.268 | 0.630 | 6.324 | 1.40119 | 1.40119 | NA | 0.004535 | 0.000227 | NA | NA | NA | 9.6552316 |
17 | 10551919 | 10551919 | G | C | exonic | MYH3 | NA | synonymous SNV | exonic | ENSG00000109063 | NA | synonymous SNV | Score=488;Name=lod=128 | NA | 17p13.1 | Score=987;Name=V$IK2_01 | Name=CTCF | Name=4 | NA | rs147148934 | 0.00319489 | 0.003 | NA | 0.0072 | 0.0008 | 0.0072 | 0.0048 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.531339 | NA | NA | 0.004767 | 0.00227 | NA | NA | NA | 9.6540996 |
1 | 879482 | 879482 | G | C | exonic | SAMD11 | NA | synonymous SNV | exonic | ENSG00000187634 | NA | synonymous SNV | NA | NA | 1p36.33 | NA | NA | NA | NA | rs149880798 | 0.00399361 | 0.0149 | NA | 0.0072 | NA | NA | 0.0062 | 0.02 | 0.01 | D | . | . | . | . | 0.000 | D | 0.690 | N | . | . | . | . | -0.968 | T | 0.056 | T | -0.843 | 0.567 | -5.2 | -0.861 | -0.113 | 3.898 | -0.842805 | NA | NA | 0.008837 | 0.001816 | NA | NA | NA | 9.6367296 |
8 | 25365148 | 25365148 | C | T | exonic | CDCA2 | NA | nonsynonymous SNV | exonic | ENSG00000184661 | NA | nonsynonymous SNV | NA | NA | 8p21.2 | NA | NA | Name=24 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.29 | T | 0.178 | B | 0.165 | B | 0.159 | N | 1.000 | N | 0.805 | L | 1.44 | T | -1.036 | T | 0.054 | T | 2.196 | 13.3 | 0.542 | 0.073 | -0.220 | 1.929 | 2.195731 | 2.195731 | 0.06 | NA | NA | NA | NA | NA | 9.3333334 |
19 | 36342551 | 36342551 | C | G | exonic | NPHS1 | NA | nonsynonymous SNV | exonic | ENSG00000161270 | NA | nonsynonymous SNV | NA | NA | 19q13.12 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001963 | NA | 0.04 | D | 0.442 | B | 0.135 | B | 0.002 | N | 1.000 | N | 0.46 | N | -0.71 | T | -0.891 | T | 0.178 | T | 3.67 | 18.65 | 1.41 | 0.574 | . | 7.226 | 3.669784 | 3.669784 | 0.03 | NA | NA | NA | NA | NA | 9.3333138 |
9 | 135140221 | 135140221 | G | A | exonic | SETX | NA | nonsynonymous SNV | exonic | ENSG00000107290 | NA | nonsynonymous SNV | NA | NA | 9q34.13 | NA | NA | NA | NA | rs376524608 | NA | NA | NA | NA | NA | NA | 0.00004118 | 0.0001 | 0.25 | T | 0.041 | B | 0.011 | B | 0.065 | N | 1.000 | N | 1.67 | L | -1.73 | D | -0.448 | T | 0.554 | D | 2.064 | 12.86 | 0.049 | 0.154 | 0.645 | 7.848 | 2.064254 | 2.064254 | 0.08 | 0.000116 | 0 | NA | NA | NA | 9.3331762 |
14 | 51226983 | 51226983 | G | A | exonic | NIN | NA | nonsynonymous SNV | exonic | ENSG00000100503 | NA | nonsynonymous SNV | NA | NA | 14q22.1 | NA | Name=YY1 | Name=3 | NA | rs147946706 | NA | NA | NA | NA | NA | NA | 0.0003 | 0.0001 | 0.32 | T | 0.002 | B | 0.009 | B | 0.980 | N | 1.000 | N | 0.4 | N | 3.51 | T | -0.949 | T | 0.021 | T | 1.095 | 9.467 | 1.72 | 0.284 | 0.443 | 6.837 | 1.094578 | NA | 0.16 | 0.000116 | 0 | NA | NA | NA | 9.3329174 |
9 | 35869498 | 35869498 | C | T | exonic | OR13J1 | NA | nonsynonymous SNV | exonic | ENSG00000168828 | NA | nonsynonymous SNV | NA | NA | 9p13.3 | NA | NA | NA | NA | rs146834712 | NA | NA | NA | NA | NA | NA | 0.0002 | 0.0005 | 0.02 | D | 0.01 | B | 0.002 | B | 0.254 | N | 1.000 | N | 1.04 | L | 1.19 | T | -1.018 | T | 0.071 | T | 0.457 | 6.481 | 2.66 | 0.417 | -0.387 | 11.945 | 0.456986 | NA | 0.01 | 0.000465 | 0 | NA | NA | NA | 9.3326684 |
1 | 62910770 | 62910770 | A | G | exonic | USP1 | NA | nonsynonymous SNV | exonic | ENSG00000162607 | NA | nonsynonymous SNV | NA | NA | 1p31.3 | NA | NA | NA | NA | NA | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.000008339 | NA | 0.74 | T | 0.0 | B | 0.003 | B | 0.026 | N | 1.000 | N | 1.245 | L | 2.29 | T | -0.985 | T | 0.019 | T | 1.112 | 9.536 | -2.73 | -0.331 | 0.344 | 0.537 | 1.112106 | NA | 0.32 | NA | NA | NA | NA | NA | 9.3323251 |
8 | 96259948 | 96259948 | T | C | exonic | C8orf37 | NA | nonsynonymous SNV | exonic | ENSG00000156172 | NA | nonsynonymous SNV | Score=363;Name=lod=40 | NA | 8q22.1 | NA | NA | NA | NA | rs148114532 | 0.000998403 | NA | NA | NA | NA | 0.0051 | 0.0007 | 0.0006 | 0.1 | T | 0.433 | B | 0.127 | B | 0.007 | N | 0.955 | N | 1.87 | L | -1.65 | D | -0.551 | T | 0.422 | T | 2.839 | 15.46 | 1.45 | 0.006 | 0.561 | 13.087 | 2.838787 | 2.838787 | 0.3 | 0.000581 | 0 | NA | NA | NA | 9.3320524 |
20 | 44511254 | 44511254 | C | T | exonic | ZSWIM1 | NA | nonsynonymous SNV | exonic | ENSG00000168612 | NA | nonsynonymous SNV | NA | NA | 20q13.12 | NA | Name=NRSF | NA | NA | rs35165640 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0002 | 0.0013 | 0.02 | D | 0.011 | B | 0.001 | B | . | . | 1.000 | N | 0 | N | 1.84 | T | -1.014 | T | 0.028 | T | 0.073 | 4.395 | 0.014 | -0.031 | -0.016 | 3.879 | 0.072866 | NA | 0.21 | 0.000349 | 0 | NA | NA | NA | 9.3317844 |
19 | 55087468 | 55087468 | G | A | exonic | LILRA2 | NA | nonsynonymous SNV | exonic | ENSG00000239998 | NA | nonsynonymous SNV | NA | NA | 19q13.42 | NA | NA | NA | NA | rs151154459 | 0.000399361 | 0.001 | NA | 0.0014 | NA | NA | 0.0008 | 0.0013 | . | . | 0.009 | B | 0.047 | B | 0.154 | N | 1.000 | N | -0.07 | N | 4.4 | T | -0.915 | T | 0.005 | T | -1.503 | 0.017 | -3.32 | -0.506 | -2.363 | 4.249 | -1.502921 | NA | 1 | 0.000581 | 0.000227 | NA | NA | NA | 9.3309524 |
10 | 70968613 | 70968613 | C | A | exonic | SUPV3L1 | NA | nonsynonymous SNV | exonic | ENSG00000156502 | NA | nonsynonymous SNV | NA | NA | 10q22.1 | Score=764;Name=V$PAX5_01 | NA | NA | NA | rs200900544 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0007 | 0.0013 | 0.39 | T | 0.012 | B | 0.01 | B | 0.989 | N | 1.000 | N | 0.895 | L | 1.58 | T | -0.999 | T | 0.041 | T | -1.952 | 0.007 | -2.32 | -0.391 | -0.259 | 2.626 | -1.951546 | NA | 0.96 | 0.000814 | 0.000227 | NA | NA | NA | 9.3308194 |
1 | 150131687 | 150131687 | C | T | exonic | PLEKHO1 | NA | nonsynonymous SNV | exonic | ENSG00000023902 | NA | nonsynonymous SNV | NA | NA | 1q21.2 | Score=837;Name=V$GRE_C | Name=Pol2-4H8,c-Fos | NA | NA | rs150382228 | 0.000399361 | 0.001 | NA | 0.0014 | NA | NA | 0.0011 | 0.0028 | 0.32 | T | 0.063 | B | 0.016 | B | 0.999 | N | 1.000 | N | 0 | N | 1.06 | T | -0.981 | T | 0.022 | T | 1.568 | 11.2 | -0.792 | 0.016 | 0.552 | 13.372 | 1.567933 | 1.567933 | 0.12 | 0.001163 | 0 | NA | NA | NA | 9.3300704 |
10 | 126172791 | 126172791 | G | A | exonic | LHPP | NA | nonsynonymous SNV | exonic | ENSG00000107902 | NA | nonsynonymous SNV | NA | NA | 10q26.13 | NA | NA | NA | NA | rs148962333 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0009 | 0.0017 | 0.4 | T | 0.008 | B | 0.009 | B | 0.664 | N | 1.000 | N | 1.02 | L | 1.67 | T | -1.021 | T | 0.045 | T | 0.167 | 4.897 | -7.11 | -1.870 | -0.129 | 8.011 | 0.166709 | NA | 0.38 | 0.001744 | 0.000227 | NA | NA | NA | 9.3296894 |
21 | 32127470 | 32127470 | T | C | exonic | KRTAP21-1 | NA | nonsynonymous SNV | exonic | ENSG00000187005 | NA | nonsynonymous SNV | Score=389;Name=lod=51 | NA | 21q22.11 | NA | NA | NA | NA | rs148348278 | 0.00199681 | NA | NA | NA | NA | 0.0102 | 0.003 | 0.0014 | 0 | D | 0.008 | B | 0.006 | B | . | . | 1.000 | N | . | . | . | . | -1.003 | T | 0.073 | T | 0.099 | 4.533 | 0.614 | 0.237 | 0.103 | 5.775 | 0.099027 | NA | 0 | 0.001395 | 0.000227 | NA | NA | NA | 9.3289384 |
16 | 84520339 | 84520339 | T | C | exonic | TLDC1 | NA | nonsynonymous SNV | exonic | ENSG00000140950 | NA | nonsynonymous SNV | NA | NA | 16q24.1 | NA | NA | NA | NA | rs141459520 | 0.000599042 | 0.003 | NA | NA | NA | NA | 0.0009 | 0.0013 | 0.03 | D | 0.071 | B | 0.107 | B | 0.011 | N | 1.000 | N | 1.44 | L | 0.96 | T | -0.983 | T | 0.095 | T | -0.121 | 3.41 | 1.75 | 0.016 | 1.422 | 8.882 | -0.120503 | NA | 0.17 | 0.001279 | 0.000455 | NA | NA | NA | 9.3281544 |
6 | 66115146 | 66115146 | C | T | exonic | EYS | NA | nonsynonymous SNV | exonic | ENSG00000188107 | NA | nonsynonymous SNV | NA | NA | 6q12 | NA | NA | NA | NA | rs112822256 | 0.00219649 | 0.003 | NA | NA | 0.0053 | 0.001 | 0.0018 | 0.011 | 0.03 | D | 0.001 | B | 0.001 | B | . | . | 1.000 | N | 0.6 | N | -1.61 | D | -0.827 | T | 0.246 | T | 0.984 | 9.018 | -1.66 | -0.679 | 0.103 | 6.756 | 0.984254 | NA | 0.01 | 0.001279 | 0.006128 | NA | 0.007 | NA | 9.3272544 |
14 | 55509919 | 55509919 | G | A | exonic | SOCS4 | NA | nonsynonymous SNV | exonic | ENSG00000180008 | NA | nonsynonymous SNV | NA | NA | 14q22.3 | NA | NA | NA | NA | rs146421724 | 0.00179712 | 0.003 | NA | 0.0086 | NA | NA | 0.0014 | 0.0028 | 0.15 | T | 0.0 | B | 0.0 | B | 0.310 | N | 1.000 | N | 0 | N | 1.48 | T | -1.024 | T | 0.035 | T | -0.395 | 2.148 | -4.77 | -1.350 | -0.433 | 6.006 | -0.395268 | NA | 0.2 | 0.001744 | 0 | NA | NA | NA | 9.3271894 |
12 | 32994073 | 32994073 | G | A | exonic | PKP2 | NA | nonsynonymous SNV | exonic | ENSG00000057294 | NA | nonsynonymous SNV | NA | NA | 12p11.21 | NA | NA | NA | NA | rs146882581 | 0.00379393 | 0.005 | NA | 0.0029 | 0.0091 | NA | 0.0023 | 0.01 | 0.12 | T | 0.198 | B | 0.032 | B | 0.002 | N | 1.000 | N | 1.56 | L | -1.07 | T | -0.835 | T | 0.225 | T | -0.137 | 3.327 | 2.01 | 0.068 | 0.502 | 8.816 | -0.137495 | NA | 0.08 | 0.002326 | 0.006355 | NA | NA | CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=single;CLNACC=RCV000038172.1;CLNDSDB=.;CLNDSDBID=. | 9.3237074 |
9 | 136340625 | 136340625 | C | T | exonic | SLC2A6 | NA | nonsynonymous SNV | exonic | ENSG00000160326 | NA | nonsynonymous SNV | Score=426;Name=lod=72 | NA | 9q34.2 | NA | NA | NA | NA | rs147854160 | 0.000798722 | 0.003 | NA | 0.0014 | NA | NA | 0.0026 | 0.0051 | 0.37 | T | 0.021 | B | 0.003 | B | 0.042 | N | 0.996 | N | -0.525 | N | -0.84 | T | -1.018 | T | 0.092 | T | 0.598 | 7.225 | 0.644 | 0.206 | 1.189 | 6.988 | 0.598187 | NA | 0.8 | 0.005117 | 0.00091 | NA | NA | NA | 9.3226164 |
12 | 57132236 | 57132236 | C | T | exonic | PRIM1 | NA | nonsynonymous SNV | exonic | ENSG00000198056 | NA | nonsynonymous SNV | Score=456;Name=lod=95 | NA | 12q13.3 | NA | NA | NA | NA | rs143246089 | 0.00259585 | 0.004 | NA | 0.0101 | 0.0008 | 0.001 | 0.0067 | 0.01 | 0.2 | T | 0.0 | B | 0.0 | B | 0.448 | N | 1.000 | N | -1.1 | N | 0.96 | T | -1.029 | T | 0.025 | T | 1.107 | 9.516 | 2.0 | 0.349 | -0.217 | 6.071 | 1.106991 | NA | 0.53 | 0.008427 | 0.00134 | NA | NA | NA | 9.3142064 |
3 | 100364914 | 100364914 | G | A | exonic | GPR128 | NA | nonsynonymous SNV | exonic | ENSG00000144820 | NA | nonsynonymous SNV | NA | NA | 3q12.2 | NA | NA | NA | NA | rs61742836 | 0.00419329 | 0.0159 | NA | 0.0043 | 0.0015 | NA | 0.0049 | 0.011 | 0.75 | T | 0.001 | B | 0.002 | B | 0.866 | N | 1.000 | N | 1.155 | L | 1.44 | T | -0.992 | T | 0.044 | T | 1.211 | 9.917 | -2.94 | -0.446 | -1.582 | 7.078 | 1.211071 | NA | 0.29 | 0.007442 | 0.001135 | NA | 0.007 | NA | 9.3050914 |
6 | 11105483 | 11105483 | C | A | exonic | ERVFRD-1 | NA | nonsynonymous SNV | exonic | ENSG00000244476 | NA | nonsynonymous SNV | NA | NA | 6p24.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00003313 | 0.011 | 0.04 | D | 0.743 | P | 0.095 | B | . | . | 0.670 | N | 0.345 | N | 2.43 | T | -0.962 | T | 0.007 | T | 1.914 | 12.36 | 0.235 | 0.308 | 0.305 | . | 1.913789 | 1.913789 | NA | NA | NA | NA | 0.007 | NA | 8.8333003 |
11 | 433417 | 433417 | C | T | exonic | ANO9 | NA | nonsynonymous SNV | exonic | ENSG00000185101 | NA | nonsynonymous SNV | NA | NA | 11p15.5 | NA | NA | NA | NA | rs150163423 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0008 | 0.0009 | 0.02 | D | 0.454 | P | 0.115 | B | 0.000 | N | 1.000 | N | 0.805 | L | -0.27 | T | -0.922 | T | 0.169 | T | -0.754 | 0.806 | 0.433 | 0.114 | -0.783 | 3.842 | -0.75377 | NA | 0.12 | 0.00093 | 0.000454 | NA | NA | NA | 8.8306034 |
12 | 15035919 | 15035919 | T | C | exonic | MGP | NA | nonsynonymous SNV | exonic | ENSG00000111341 | NA | nonsynonymous SNV | NA | NA | 12p12.3 | NA | NA | NA | NA | rs1801716 | 0.00399361 | 0.003 | NA | 0.0043 | NA | 0.0143 | 0.0051 | 0.01 | 0.28 | T | 0.454 | P | 0.026 | B | 0.556 | N | 1.000 | N | 1.245 | L | 1.52 | T | -1.047 | T | 0.031 | T | 1.369 | 10.5 | 1.86 | 0.166 | 1.799 | 4.413 | 1.368978 | 1.368978 | 0.55 | 0.004884 | 0.000908 | NA | NA | NA | 8.8203494 |
1 | 161126745 | 161126745 | G | A | exonic | UFC1 | NA | synonymous SNV | exonic | ENSG00000143222 | NA | synonymous SNV | Score=507;Name=lod=154 | NA | 1q23.3 | Score=843;Name=V$FOXO4_02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.952975 | NA | NA | NA | NA | NA | NA | NA | 8.6666666 |
3 | 99569638 | 99569638 | T | C | exonic | FILIP1L | NA | synonymous SNV | exonic | ENSG00000168386 | NA | synonymous SNV | Score=616;Name=lod=425 | NA | 3q12.1 | NA | NA | Name=19 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.447102 | NA | NA | NA | NA | NA | NA | NA | 8.6666666 |
12 | 132490838 | 132490838 | C | G | exonic | EP400 | NA | synonymous SNV | exonic | ENSG00000183495 | NA | synonymous SNV | Score=462;Name=lod=101 | NA | 12q24.33 | NA | NA | Name=2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.890294 | NA | NA | NA | NA | NA | NA | NA | 8.6666666 |
2 | 48026799 | 48026799 | C | T | exonic | MSH6 | NA | synonymous SNV | exonic | ENSG00000116062 | NA | synonymous SNV | Score=493;Name=lod=135 | NA | 2p16.3 | NA | Name=BCL3 | NA | NA | rs63749893 | NA | NA | NA | NA | NA | NA | 0.000008266 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.057606 | NA | NA | NA | NA | NA | NA | CLINSIG=unknown;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000074679.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 | 8.6666583 |
20 | 8745817 | 8745817 | G | A | exonic | PLCB1 | NA | synonymous SNV | exonic | ENSG00000182621 | NA | synonymous SNV | Score=457;Name=lod=96 | NA | 20p12.3 | Score=836;Name=V$RFX1_02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00002492 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.109695 | NA | NA | NA | NA | NA | NA | NA | 8.6666417 |
19 | 4028798 | 4028798 | G | C | exonic | PIAS4 | NA | synonymous SNV | exonic | ENSG00000105229 | NA | synonymous SNV | Score=589;Name=lod=329 | NA | 19p13.3 | Score=798;Name=V$COMP1_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00002496 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.151904 | NA | NA | NA | NA | NA | NA | NA | 8.6666416 |
19 | 42213898 | 42213898 | C | T | exonic | CEACAM5 | NA | synonymous SNV | exonic | ENSG00000105388,ENSG00000267881 | NA | synonymous SNV | NA | NA | 19q13.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00003341 | NA | . | . | . | . | . | . | . | . | 1.000 | N | . | . | . | . | -1.000 | T | 0.058 | T | -0.385 | 2.194 | -0.993 | 0.156 | -1.767 | 5.338 | -0.3845 | NA | NA | NA | NA | NA | NA | NA | 8.6666332 |
10 | 99358629 | 99358629 | C | T | exonic | HOGA1 | NA | synonymous SNV | exonic | ENSG00000241935 | NA | synonymous SNV | Score=471;Name=lod=109 | NA | 10q24.2 | NA | NA | Name=6 | NA | NA | NA | NA | NA | NA | NA | NA | 0.00004943 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.043967 | NA | NA | NA | NA | NA | NA | NA | 8.6666172 |
20 | 45221159 | 45221159 | C | T | exonic | SLC13A3 | NA | synonymous SNV | exonic | ENSG00000158296 | NA | synonymous SNV | NA | NA | 20q13.12 | NA | NA | NA | NA | rs139819116 | NA | NA | NA | NA | NA | NA | 0.00004977 | 0.0005 | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | -0.784 | T | 0.130 | T | 0.91 | 8.703 | -10.6 | -3.351 | -0.581 | 7.243 | 0.910273 | NA | NA | 0 | 0.000454 | ID=COSM189078;OCCURENCE=1(large_intestine) | NA | NA | 8.6666168 |
19 | 21910313 | 21910313 | C | G | exonic | ZNF100 | NA | synonymous SNV | exonic | ENSG00000197020 | NA | synonymous SNV | Score=366;Name=lod=41 | NA | 19p12 | NA | Name=ZNF274 | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00005017 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.164785 | NA | NA | NA | NA | NA | NA | NA | 8.6666164 |
11 | 64876383 | 64876383 | C | T | exonic | VPS51 | NA | synonymous SNV | exonic | ENSG00000149823 | NA | synonymous SNV | Score=585;Name=lod=317 | NA | 11q13.1 | NA | Name=GATA3_(SC-268),Pol2,FOXA1_(C-20),ERalpha_a,c-Myc,p300 | Name=5 | NA | rs143862116 | NA | NA | NA | NA | NA | NA | 0.00005185 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.386751 | NA | NA | NA | NA | NA | NA | NA | 8.6666148 |
12 | 133384698 | 133384698 | C | T | exonic | GOLGA3 | NA | synonymous SNV | exonic | ENSG00000090615 | NA | synonymous SNV | Score=417;Name=lod=66 | NA | 12q24.33 | Score=707;Name=V$NRSF_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00006016 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.589333 | NA | NA | NA | NA | NA | NA | NA | 8.6666064 |
7 | 20824833 | 20824833 | G | A | exonic | SP8 | NA | synonymous SNV | exonic | ENSG00000164651 | NA | synonymous SNV | Score=715;Name=lod=1072 | NA | 7p21.1 | Score=855;Name=V$CEBPB_02 | Name=CTCF | NA | NA | rs374176171 | NA | NA | NA | NA | NA | NA | 0.0002 | 0.0001 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.35515 | NA | 0 | 0.000138 | 0 | NA | NA | NA | 8.6663286 |
19 | 41307140 | 41307140 | C | T | exonic | EGLN2 | NA | synonymous SNV | exonic | ENSG00000269858 | NA | synonymous SNV | Score=577;Name=lod=296 | NA | 19q13.2 | Score=743;Name=V$TAXCREB_02 | Name=Pol2-4H8 | NA | NA | rs150973573 | 0.00199681 | NA | NA | 0.0058 | 0.0045 | NA | 0.0007 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.041245 | NA | NA | 0.000116 | 0.004087 | ID=COSM1393896;OCCURENCE=1(large_intestine) | NA | NA | 8.6658506 |
14 | 93299631 | 93299631 | C | T | exonic | GOLGA5 | NA | synonymous SNV | exonic | ENSG00000066455 | NA | synonymous SNV | NA | NA | 14q32.12 | NA | NA | NA | NA | rs371855374 | 0.000399361 | 0.001 | NA | NA | 0.0008 | NA | 0.0002 | 0.0005 | . | . | . | . | . | . | . | . | 1.000 | N | . | . | . | . | -1.028 | T | 0.059 | T | 1.413 | 10.66 | -10.4 | -2.363 | -1.218 | 8.666 | 1.413176 | 1.413176 | NA | 0.000465 | 0 | NA | NA | NA | 8.6650016 |
14 | 21936855 | 21936855 | T | G | exonic | RAB2B | NA | synonymous SNV | exonic | ENSG00000129472 | NA | synonymous SNV | Score=635;Name=lod=510 | NA | 14q11.2 | Score=925;Name=V$LMO2COM_01 | NA | NA | NA | NA | 0.00339457 | NA | NA | NA | NA | 0.0174 | 0.0018 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.508784 | 1.508784 | NA | NA | NA | NA | NA | NA | 8.6648666 |
22 | 29704662 | 29704662 | C | T | exonic | GAS2L1 | NA | synonymous SNV | exonic | ENSG00000185340 | NA | synonymous SNV | NA | NA | 22q12.2 | NA | Name=Egr-1 | Name=5 | NA | NA | 0.00119808 | NA | NA | NA | NA | 0.0061 | 0.0018 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.876715 | NA | NA | NA | NA | NA | NA | NA | 8.6648666 |
8 | 24771984 | 24771984 | G | T | exonic | NEFM | NA | synonymous SNV | exonic | ENSG00000104722 | NA | synonymous SNV | Score=823;Name=lod=2949 | NA | 8p21.2 | Score=855;Name=V$CHOP_01 | NA | Name=81 | NA | rs61735463 | 0.00199681 | 0.001 | NA | NA | 0.0068 | NA | 0.0008 | 0.0066 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.956319 | NA | NA | 0.000465 | 0.006582 | NA | NA | NA | 8.6644016 |
12 | 56094816 | 56094816 | C | T | exonic | ITGA7 | NA | synonymous SNV | exonic | ENSG00000135424 | NA | synonymous SNV | Score=622;Name=lod=448 | NA | 12q13.2 | Score=1000;Name=V$MZF1_01 | Name=c-Jun | NA | NA | rs145463677 | 0.000798722 | 0.002 | NA | 0.0014 | NA | 0.001 | 0.0008 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.593918 | NA | NA | 0.001047 | 0.000454 | NA | NA | NA | 8.6628196 |
7 | 103969525 | 103969525 | C | T | exonic | LHFPL3 | NA | synonymous SNV | exonic | ENSG00000187416 | NA | synonymous SNV | Score=831;Name=lod=3182 | NA | 7q22.2 | Score=786;Name=V$AHR_01 | NA | Name=3 | NA | rs185070516 | 0.000599042 | 0.002 | NA | 0.0014 | NA | NA | 0.0009 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.996819 | NA | NA | 0.000952 | 0 | NA | NA | NA | 8.6628146 |
10 | 115804956 | 115804956 | C | A | exonic | ADRB1 | NA | synonymous SNV | exonic | ENSG00000043591 | NA | synonymous SNV | Score=747;Name=lod=1448 | NA | 10q25.3 | NA | Name=ELF1_(SC-631),Max,PAX5-C20 | Name=23 | NA | rs141633952 | 0.000199681 | NA | NA | NA | NA | 0.001 | 0.002 | 0.0037 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.06735 | NA | NA | 0.003743 | 0.000912 | NA | NA | NA | 8.6609236 |
19 | 12975884 | 12975884 | C | T | exonic | MAST1 | NA | synonymous SNV | exonic | ENSG00000105613 | NA | synonymous SNV | Score=542;Name=lod=212 | NA | 19p13.2 | Score=802;Name=V$XBP1_01 | Name=TCF4 | NA | NA | rs35952311 | 0.00259585 | 0.003 | NA | 0.0014 | NA | 0.0092 | 0.0043 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.556803 | NA | NA | 0.006628 | 0.001362 | NA | 0.007 | NA | 8.6527386 |
6 | 33281505 | 33281505 | C | A | exonic | TAPBP | NA | synonymous SNV | exonic | ENSG00000231925 | NA | synonymous SNV | NA | NA | 6p21.32 | Score=829;Name=V$EGR1_01 | Name=Pol2,EBF,CEBPB,BAF155,TBP,EBF1_(C-8) | Name=111 | NA | rs45501592 | 0.00339457 | 0.0089 | NA | 0.0029 | 0.0008 | 0.0051 | 0.0051 | 0.0076 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.104785 | NA | NA | 0.007572 | 0.001366 | NA | NA | NA | 8.6450946 |
6 | 72967952 | 72967952 | G | A | exonic | RIMS1 | NA | synonymous SNV | exonic | ENSG00000079841 | NA | synonymous SNV | Score=697;Name=lod=907 | NA | 6q13 | NA | NA | NA | NA | rs41265493 | 0.00479233 | 0.0139 | NA | 0.0014 | NA | 0.0092 | 0.0079 | 0.011 | . | . | . | . | . | . | . | . | 1.000 | D | . | . | . | . | -1.027 | T | 0.061 | T | 0.898 | 8.65 | -0.137 | -0.036 | 0.388 | 1.888 | 0.898107 | NA | NA | 0.009768 | 0.002564 | NA | 0.007 | NA | 8.6350986 |
2 | 182766624 | 182766624 | C | A | exonic | SSFA2 | NA | nonsynonymous SNV | exonic | ENSG00000138434 | NA | nonsynonymous SNV | NA | NA | 2q31.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.69 | T | 0.0 | B | 0.001 | B | 0.415 | N | 0.960 | N | 0.345 | N | 2.76 | T | -0.976 | T | 0.017 | T | -0.083 | 3.594 | 1.56 | 0.080 | 0.228 | 0.793 | -0.08308 | NA | 0.29 | NA | NA | NA | NA | NA | 8.3333334 |
1 | 33292442 | 33292442 | C | T | exonic | S100PBP | NA | nonsynonymous SNV | exonic | ENSG00000116497 | NA | nonsynonymous SNV | NA | NA | 1p35.1 | NA | NA | NA | NA | rs146571632 | NA | NA | NA | NA | NA | NA | 0.0001 | 0.0005 | . | . | 0.043 | B | 0.029 | B | 0.000 | N | 1.000 | N | 0.805 | L | . | . | -1.043 | T | 0.060 | T | 1.128 | 9.597 | 2.62 | 0.372 | 0.074 | 5.549 | 1.127564 | NA | 0 | 0 | 0.000454 | NA | NA | NA | 8.3332334 |
14 | 99183532 | 99183532 | C | T | exonic | C14orf177 | NA | nonsynonymous SNV | exonic | ENSG00000176605 | NA | nonsynonymous SNV | NA | NA | 14q32.2 | NA | NA | NA | NA | rs143969442 | NA | NA | NA | NA | NA | NA | 0.0002 | 0.0005 | 0 | D | 0.0 | B | 0.0 | B | . | . | 1.000 | N | 0 | N | 1.14 | T | -1.028 | T | 0.040 | T | 1.225 | 9.968 | -0.782 | -0.137 | -0.077 | 4.252 | 1.224784 | NA | NA | 0.000465 | 0.000227 | ID=COSM355766;OCCURENCE=1(lung) | NA | NA | 8.3326684 |
12 | 9256972 | 9256972 | C | T | exonic | A2M | NA | nonsynonymous SNV | exonic | ENSG00000175899 | NA | nonsynonymous SNV | NA | NA | 12p13.31 | NA | NA | NA | NA | rs200364039 | NA | NA | NA | NA | NA | NA | 0.0008 | 0.0004 | 0.19 | T | 0.051 | B | 0.006 | B | 0.861 | N | 1.000 | N | 1.575 | L | 1.64 | T | -1.004 | T | 0.068 | T | 0.621 | 7.34 | 0.749 | -0.061 | -1.206 | 8.160 | 0.620724 | NA | 0.19 | 0.000365 | 0 | NA | NA | NA | 8.3321684 |
15 | 29346257 | 29346257 | C | T | exonic | APBA2 | NA | nonsynonymous SNV | exonic | ENSG00000034053 | NA | nonsynonymous SNV | Score=313;Name=lod=25 | NA | 15q13.1 | NA | NA | NA | NA | rs141358568 | 0.000798722 | 0.001 | NA | 0.0043 | NA | NA | 0.0004 | 0.01 | 0.15 | T | 0.0 | B | 0.001 | B | 0.607 | N | 1.000 | N | -0.41 | N | 1.02 | T | -1.027 | T | 0.040 | T | 0.444 | 6.412 | 1.71 | 0.360 | -0.285 | 9.187 | 0.444058 | NA | 0.28 | 0.000698 | 0.000681 | ID=COSM268249;OCCURENCE=1(ovary),1(large_intestine),1(endometrium) | NA | NA | 8.3312354 |
11 | 63487782 | 63487782 | C | T | exonic | RTN3 | NA | nonsynonymous SNV | exonic | ENSG00000133318 | NA | nonsynonymous SNV | NA | NA | 11q13.1 | NA | NA | Name=49 | NA | rs116807490 | 0.00858626 | NA | NA | 0.0029 | 0.031 | NA | 0.0021 | 0.022 | 0.41 | T | 0.021 | B | 0.013 | B | 0.025 | N | 1.000 | N | 0.145 | N | 1.98 | T | -1.023 | T | 0.015 | T | 1.417 | 10.68 | 0.155 | -0.045 | 0.003 | 7.713 | 1.417322 | 1.417322 | 0.45 | 0 | 0.021808 | NA | 0.014 | NA | 8.3312334 |
14 | 24705004 | 24705004 | G | T | exonic | GMPR2 | NA | nonsynonymous SNV | exonic | ENSG00000100938 | NA | nonsynonymous SNV | NA | NA | 14q12 | Score=830;Name=V$MRF2_01 | NA | NA | NA | rs45530636 | 0.000599042 | 0.001 | NA | 0.0014 | NA | 0.001 | 0.0003 | 0.0028 | 0.23 | T | 0.004 | B | 0.017 | B | 0.415 | N | 1.000 | N | -0.345 | N | -1.13 | T | -0.985 | T | 0.152 | T | 1.998 | 12.64 | -0.053 | 0.235 | 0.842 | 2.511 | 1.997776 | 1.997776 | 0.14 | 0.000843 | 0 | NA | NA | NA | 8.3311904 |
12 | 125299559 | 125299559 | G | A | exonic | SCARB1 | NA | nonsynonymous SNV | exonic | ENSG00000073060 | NA | nonsynonymous SNV | NA | NA | 12q24.31 | NA | NA | NA | NA | rs150222965 | 0.00199681 | NA | NA | 0.0029 | NA | 0.0082 | 0.0028 | 0.0028 | 0.19 | T | 0.047 | B | 0.016 | B | 0.363 | N | 1.000 | N | 1.12 | L | -0.65 | T | -0.962 | T | 0.197 | T | 1.224 | 9.966 | -4.44 | -0.743 | -0.241 | 5.646 | 1.224264 | NA | 0.16 | 0.001977 | 0.001135 | NA | NA | NA | 8.3285564 |
9 | 130479638 | 130479638 | G | A | exonic | TTC16 | NA | nonsynonymous SNV | exonic | ENSG00000167094 | NA | nonsynonymous SNV | NA | NA | 9q34.11 | NA | NA | NA | NA | rs139753825 | 0.000798722 | 0.002 | NA | 0.0029 | NA | NA | 0.0011 | 0.0019 | 0.65 | T | 0.925 | P | 0.626 | P | 0.096 | N | 1.000 | N | 1.115 | L | 0.66 | T | -0.983 | T | 0.102 | T | 2.39 | 13.95 | 0.107 | 0.120 | 0.069 | 7.592 | 2.38965 | 2.38965 | 0.66 | 0.00186 | 0 | NA | NA | NA | 8.3283734 |
17 | 61898459 | 61898459 | C | T | exonic | FTSJ3 | NA | nonsynonymous SNV | exonic | ENSG00000108592 | NA | nonsynonymous SNV | NA | NA | 17q23.3 | NA | Name=Pol2 | NA | NA | rs141577537 | 0.000599042 | 0.002 | NA | 0.0014 | NA | NA | 0.0012 | 0.0028 | 0.77 | T | 0.001 | B | 0.018 | B | 0.054 | N | 1.000 | N | 0 | N | 1.58 | T | -0.997 | T | 0.026 | T | 1.825 | 12.06 | -0.723 | -0.226 | -0.134 | 4.568 | 1.824566 | 1.824566 | 0.19 | 0.002209 | 0.000227 | NA | NA | NA | 8.3279244 |
2 | 113831941 | 113831941 | G | A | exonic | IL1F10 | NA | nonsynonymous SNV | exonic | ENSG00000136697 | NA | nonsynonymous SNV | NA | NA | 2q13 | NA | NA | NA | NA | rs72827872 | 0.00199681 | 0.001 | NA | 0.0043 | NA | 0.0061 | 0.0036 | 0.0048 | 0.58 | T | 0.001 | B | 0.001 | B | 0.026 | N | 1.000 | N | 1.445 | L | 1.38 | T | -1.030 | T | 0.085 | T | 0.47 | 6.549 | 2.8 | 0.641 | 0.779 | 7.568 | 0.469618 | NA | 0.09 | 0.004767 | 0.001135 | NA | 0.065 | NA | 8.3239664 |
22 | 38109227 | 38109227 | C | G | exonic | TRIOBP | NA | nonsynonymous SNV | exonic | ENSG00000100106 | NA | nonsynonymous SNV | NA | NA | 22q13.1 | NA | NA | NA | NA | rs199646135 | 0.000798722 | NA | NA | 0.0043 | 0.0008 | NA | 0.0049 | 0.01 | 0 | D | 0.02 | B | 0.008 | B | . | . | 1.000 | N | 0.695 | N | 2.03 | T | -1.004 | T | 0.021 | T | 1.453 | 10.8 | -0.516 | -0.048 | 0.408 | 4.03 | 1.453221 | 1.453221 | 0 | 0.008017 | 0.000529 | NA | NA | NA | 8.3204164 |
8 | 110457592 | 110457592 | C | T | exonic | PKHD1L1 | NA | nonsynonymous SNV | exonic | ENSG00000205038 | NA | nonsynonymous SNV | NA | NA | 8q23.1 | NA | NA | NA | NA | rs148982821 | 0.00139776 | 0.007 | NA | NA | NA | NA | 0.0023 | 0.01 | 0.58 | T | 0.0 | B | 0.002 | B | 0.031 | N | 1.000 | N | -0.805 | N | -2.39 | D | -0.829 | T | 0.199 | T | -0.441 | 1.951 | 0.58 | 0.145 | 0.518 | 4.534 | -0.441195 | NA | 0.08 | 0.003754 | 0.000517 | NA | NA | NA | 8.3202794 |
11 | 113267947 | 113267947 | C | A | exonic | ANKK1 | NA | nonsynonymous SNV | exonic | ENSG00000170209 | NA | nonsynonymous SNV | Score=304;Name=lod=23 | NA | 11q23.2 | NA | NA | NA | NA | rs138608171 | 0.000998403 | 0.005 | NA | NA | NA | NA | 0.0031 | 0.01 | 0.87 | T | 0.079 | B | 0.063 | B | 0.234 | N | 0.999 | N | -0.32 | N | 1.56 | T | -0.996 | T | 0.016 | T | -0.222 | 2.925 | -0.612 | 0.017 | 0.158 | 3.197 | -0.22226 | NA | 0.72 | 0.005347 | 0.000476 | NA | NA | NA | 8.3198864 |
12 | 49724153 | 49724153 | T | A | exonic | TROAP | NA | nonsynonymous SNV | exonic | ENSG00000135451 | NA | nonsynonymous SNV | NA | NA | 12q13.12 | NA | NA | NA | NA | rs143183472 | 0.00219649 | 0.004 | NA | NA | NA | 0.0072 | 0.0066 | 0.01 | 0.82 | T | 0.103 | B | 0.058 | B | 0.062 | N | 1.000 | N | 1.24 | L | . | . | -1.026 | T | 0.051 | T | 1.225 | 9.971 | -5.91 | -0.919 | -0.547 | 7.711 | 1.225472 | NA | 0.87 | 0.007093 | 0.000681 | NA | NA | NA | 8.3156404 |
1 | 225152253 | 225152253 | C | T | exonic | DNAH14 | NA | nonsynonymous SNV | exonic | ENSG00000185842 | NA | nonsynonymous SNV | NA | NA | 1q42.12 | NA | NA | NA | NA | rs41267349 | 0.00359425 | 0.0089 | NA | 0.0043 | 0.0038 | 0.001 | 0.0059 | 0.01 | 0.06 | T | 0.059 | B | 0.027 | B | 0.717 | N | 1.000 | N | . | . | 2.27 | T | -1.027 | T | 0.037 | T | 1.792 | 11.95 | 0.603 | 0.254 | 1.321 | 2.194 | 1.792051 | 1.792051 | 0.08 | 0.006522 | 0.003625 | NA | NA | NA | 8.3120114 |
19 | 3551125 | 3551125 | C | T | exonic | MFSD12 | NA | synonymous SNV | exonic | ENSG00000161091 | NA | nonsynonymous SNV | NA | NA | 19p13.3 | Score=808;Name=V$PAX5_01 | Name=Pol2 | NA | NA | rs61733854 | 0.00159744 | 0.007 | NA | 0.0014 | NA | NA | 0.0069 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.060997 | NA | NA | 0.006691 | 0.001705 | NA | NA | NA | 7.979409 |
3 | 9970088 | 9970088 | C | T | exonic | IL17RC | NA | nonsynonymous SNV | exonic | ENSG00000163702 | NA | nonsynonymous SNV | NA | NA | 3p25.3 | NA | NA | NA | NA | rs11719981 | 0.000798722 | NA | 0.001 | 0.0014 | NA | 0.002 | 0.0017 | 0.0017 | 0.79 | T | 0.462 | P | 0.023 | B | 0.617 | N | 1.000 | N | 0.035 | N | 2.49 | T | -0.978 | T | 0.011 | T | -0.631 | 1.205 | -0.082 | 0.140 | 0.280 | 3.667 | -0.631326 | NA | 0.51 | 0.001746 | 0.000909 | NA | NA | NA | 7.8298874 |
7 | 99704892 | 99704892 | C | T | exonic | TAF6 | NA | nonsynonymous SNV | exonic | ENSG00000106290 | NA | nonsynonymous SNV | NA | NA | 7q22.1 | NA | NA | NA | NA | rs146348021 | 0.00139776 | 0.003 | NA | 0.0058 | NA | NA | 0.0036 | 0.01 | 0.83 | T | 0.6 | P | 0.208 | B | 0.006 | N | 0.867 | N | 0 | N | 0.93 | T | -1.004 | T | 0.028 | T | 2.498 | 14.31 | 1.01 | 0.310 | -0.099 | 6.766 | 2.498076 | 2.498076 | 0.3 | 0.005139 | 0.000459 | NA | NA | NA | 7.8215944 |
10 | 134218287 | 134218287 | G | A | exonic | PWWP2B | NA | nonsynonymous SNV | exonic | ENSG00000171813 | NA | nonsynonymous SNV | NA | NA | 10q26.3 | NA | NA | NA | NA | rs199872085 | 0.00139776 | 0.003 | NA | 0.0029 | 0.0008 | 0.001 | 0.0048 | 0.01 | 0.5 | T | 0.892 | P | 0.163 | B | 0.265 | N | 1.000 | N | -0.14 | N | 1.55 | T | -1.055 | T | 0.043 | T | 1.615 | 11.36 | -0.469 | -0.240 | 0.286 | 6.863 | 1.614637 | 1.614637 | 0.39 | 0.004903 | 0.000744 | NA | NA | NA | 7.8206304 |
1 | 158906715 | 158906715 | C | T | exonic | PYHIN1 | NA | synonymous SNV | exonic | ENSG00000163564 | NA | synonymous SNV | NA | NA | 1q23.1 | Score=891;Name=V$EVI1_06 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.838178 | NA | NA | NA | NA | NA | NA | NA | 7.6666666 |
2 | 55476582 | 55476582 | T | C | exonic | MTIF2 | NA | synonymous SNV | exonic | ENSG00000085760 | NA | synonymous SNV | NA | NA | 2p16.1 | Score=824;Name=V$PAX3_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.408705 | 1.408705 | NA | NA | NA | NA | NA | NA | 7.6666666 |
2 | 120849134 | 120849134 | G | A | exonic | EPB41L5 | NA | synonymous SNV | exonic | ENSG00000115109 | NA | synonymous SNV | Score=587;Name=lod=325 | NA | 2q14.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.899925 | NA | NA | NA | NA | NA | NA | NA | 7.6666666 |
6 | 51893037 | 51893037 | G | T | exonic | PKHD1 | NA | synonymous SNV | exonic | ENSG00000170927 | NA | synonymous SNV | Score=309;Name=lod=24 | NA | 6p12.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.553054 | NA | NA | NA | NA | NA | NA | NA | 7.6666666 |
7 | 20449239 | 20449239 | A | G | exonic | ITGB8 | NA | synonymous SNV | exonic | ENSG00000105855 | NA | synonymous SNV | Score=632;Name=lod=494 | NA | 7p21.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.863262 | NA | NA | NA | NA | NA | NA | NA | 7.6666666 |
9 | 2039575 | 2039575 | C | T | exonic | SMARCA2 | NA | synonymous SNV | exonic | ENSG00000080503 | NA | synonymous SNV | Score=460;Name=lod=99 | NA | 9p24.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.494421 | 1.494421 | NA | NA | NA | NA | NA | NA | 7.6666666 |
3 | 47088028 | 47088028 | G | A | exonic | SETD2 | NA | synonymous SNV | exonic | ENSG00000181555 | NA | synonymous SNV | NA | NA | 3p21.31 | Score=855;Name=V$AP4_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00000824 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.726036 | NA | NA | NA | NA | NA | NA | NA | 7.6666584 |
16 | 2813961 | 2813961 | A | T | exonic | SRRM2 | NA | synonymous SNV | exonic | ENSG00000167978 | NA | synonymous SNV | NA | NA | 16p13.3 | NA | Name=Pol2(phosphoS2) | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008264 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.760836 | NA | NA | NA | NA | NA | NA | NA | 7.6666583 |
17 | 79164752 | 79164752 | C | T | exonic | AZI1 | NA | synonymous SNV | exonic | ENSG00000141577 | NA | synonymous SNV | Score=358;Name=lod=38 | NA | 17q25.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008514 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.850059 | NA | NA | NA | NA | NA | NA | NA | 7.6666581 |
11 | 64137218 | 64137218 | C | T | exonic | RPS6KA4 | NA | synonymous SNV | exonic | ENSG00000162302 | NA | synonymous SNV | Score=561;Name=lod=253 | NA | 11q13.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00000932 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.402342 | 1.402342 | NA | NA | NA | NA | NA | NA | 7.6666573 |
16 | 1810459 | 1810459 | C | T | exonic | MAPK8IP3 | NA | synonymous SNV | exonic | ENSG00000138834 | NA | synonymous SNV | Score=549;Name=lod=228 | NA | 16p13.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00004151 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.711969 | NA | NA | NA | NA | NA | NA | NA | 7.6666251 |
3 | 97680493 | 97680493 | C | A | exonic | MINA | NA | synonymous SNV | exonic | ENSG00000170854 | NA | synonymous SNV | NA | NA | 3q11.2 | Score=828;Name=V$FREAC4_01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.0000579 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.212759 | NA | NA | NA | NA | NA | NA | NA | 7.6666087 |
3 | 48699636 | 48699636 | C | T | exonic | CELSR3 | NA | synonymous SNV | exonic | ENSG00000008300 | NA | synonymous SNV | NA | NA | 3p21.31 | NA | Name=NRSF | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00006836 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.179707 | NA | NA | NA | NA | NA | NA | NA | 7.6665982 |
15 | 27572153 | 27572153 | C | T | exonic | GABRG3 | NA | synonymous SNV | exonic | ENSG00000182256 | NA | synonymous SNV | Score=512;Name=lod=161 | NA | 15q12 | Score=805;Name=V$PBX1_02 | NA | NA | NA | rs376676320 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.0003 | 0.0003 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.536718 | NA | NA | 0 | 0.000257 | ID=COSM1372205;OCCURENCE=1(large_intestine) | NA | NA | 7.6663666 |
8 | 69104722 | 69104722 | C | T | exonic | PREX2 | NA | synonymous SNV | exonic | ENSG00000046889 | NA | synonymous SNV | NA | NA | 8q13.2 | NA | Name=E2F6_(H-50),HA-E2F1 | Name=6 | NA | rs61753705 | 0.000399361 | NA | NA | 0.0029 | NA | NA | 0.0004 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.632216 | NA | NA | NA | NA | NA | NA | NA | 7.6662666 |
5 | 148689617 | 148689617 | C | T | exonic | AFAP1L1 | NA | synonymous SNV | exonic | ENSG00000157510 | NA | synonymous SNV | Score=587;Name=lod=325 | NA | 5q32 | Score=956;Name=V$AP4_Q5 | NA | NA | NA | rs139614291 | NA | NA | NA | NA | NA | NA | 0.0001 | 0.0005 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.152516 | NA | NA | 0.000349 | 0.000454 | NA | NA | NA | 7.6662176 |
19 | 18123757 | 18123757 | G | A | exonic | ARRDC2 | NA | synonymous SNV | exonic | ENSG00000105643 | NA | synonymous SNV | Score=470;Name=lod=108 | NA | 19p13.11 | Score=964;Name=V$TCF11_01 | NA | NA | NA | rs140570800 | 0.000199681 | NA | NA | 0.0014 | NA | NA | 0.0002 | 0.0003 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.279701 | NA | NA | 0.000349 | 0 | NA | NA | NA | 7.6661176 |
9 | 114131316 | 114131316 | T | C | exonic | KIAA0368 | NA | synonymous SNV | exonic | ENSG00000136813 | NA | synonymous SNV | Score=443;Name=lod=84 | NA | 9q31.3 | NA | NA | NA | NA | NA | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.00001755 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.196511 | NA | NA | NA | NA | NA | NA | NA | 7.665649 |
9 | 138651555 | 138651555 | G | A | exonic | KCNT1 | NA | synonymous SNV | exonic | ENSG00000107147 | NA | synonymous SNV | NA | NA | 9q34.3 | Score=772;Name=V$PAX5_02 | Name=JunD,ZNF263 | NA | NA | rs142756900 | NA | NA | NA | NA | NA | NA | 0.0006 | 0.0006 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.564634 | NA | NA | 0.000581 | 0 | NA | NA | NA | 7.6654856 |
9 | 80144114 | 80144114 | C | T | exonic | GNA14 | NA | synonymous SNV | exonic | ENSG00000156049 | NA | synonymous SNV | Score=622;Name=lod=448 | NA | 9q21.2 | Score=866;Name=V$HAND1E47_01 | NA | NA | NA | rs147709559 | 0.000599042 | 0.001 | NA | 0.0029 | NA | NA | 0.0003 | 0.0001 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.419288 | 1.419288 | NA | 0.000116 | 0 | NA | NA | NA | 7.6652506 |
14 | 62212486 | 62212486 | T | C | exonic | HIF1A | NA | synonymous SNV | exonic | ENSG00000100644 | NA | synonymous SNV | Score=607;Name=lod=391 | NA | 14q23.2 | Score=820;Name=V$OCT1_04 | NA | NA | NA | rs149019950 | 0.000599042 | 0.001 | NA | 0.0014 | NA | 0.001 | 0.0004 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.340799 | 1.340799 | NA | 0.000233 | 0.000227 | NA | NA | NA | 7.6650336 |
2 | 196774877 | 196774877 | A | G | exonic | DNAH7 | NA | synonymous SNV | exonic | ENSG00000118997 | NA | synonymous SNV | Score=501;Name=lod=145 | NA | 2q32.3 | Score=931;Name=V$LMO2COM_01 | NA | NA | NA | rs200575809 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0003 | 0.0004 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.208386 | NA | NA | 0.000365 | 0 | NA | NA | NA | 7.6650016 |
4 | 73930519 | 73930519 | G | A | exonic | COX18 | NA | synonymous SNV | exonic | ENSG00000163626 | NA | synonymous SNV | Score=501;Name=lod=145 | NA | 4q13.3 | NA | NA | Name=15 | NA | rs61741433 | 0.00259585 | NA | NA | 0.0029 | 0.0083 | NA | 0.0015 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.532201 | NA | NA | 0.000233 | 0.011348 | NA | NA | NA | 7.6649336 |
6 | 49814239 | 49814239 | G | A | exonic | CRISP1 | NA | synonymous SNV | exonic | ENSG00000124812 | NA | synonymous SNV | Score=383;Name=lod=48 | NA | 6p12.3 | NA | Name=TAL1_(SC-12984) | NA | NA | rs138679779 | NA | NA | NA | NA | NA | NA | 0.0006 | 0.0014 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.660061 | NA | NA | 0.001395 | 0.000454 | NA | NA | NA | 7.6646716 |
1 | 55349318 | 55349318 | G | A | exonic | DHCR24 | NA | synonymous SNV | exonic | ENSG00000116133 | NA | synonymous SNV | Score=622;Name=lod=451 | NA | 1p32.3 | Score=791;Name=V$CART1_01 | NA | NA | NA | rs61733134 | 0.0071885 | NA | NA | 0.0014 | 0.0265 | NA | 0.0021 | 0.033 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.244873 | 1.244873 | NA | 0.000349 | 0.020654 | NA | 0.022 | NA | 7.6642176 |
1 | 205628425 | 205628425 | G | A | exonic | SLC45A3 | NA | synonymous SNV | exonic | ENSG00000158715 | NA | synonymous SNV | NA | NA | 1q32.1 | Score=867;Name=V$YY1_01 | NA | Name=132 | NA | rs143282781 | 0.000199681 | NA | NA | NA | NA | 0.001 | 0.0013 | 0.0013 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.032311 | NA | NA | 0.001279 | 0.000681 | NA | NA | NA | 7.6640876 |
15 | 81605612 | 81605612 | C | T | exonic | STARD5 | NA | synonymous SNV | exonic | ENSG00000172345 | NA | synonymous SNV | NA | NA | 15q25.1 | NA | Name=CEBPB,GR,c-Fos,JunD,Pol2(b),c-Jun,ERalpha_a,Max,p300,STAT3 | Name=114 | NA | rs61659195 | 0.00778754 | NA | NA | NA | 0.0295 | NA | 0.0028 | 0.025 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.165718 | NA | 0.01 | 0.000116 | 0.024739 | NA | 0.014 | NA | 7.6637506 |
2 | 71797754 | 71797754 | C | T | exonic | DYSF | NA | synonymous SNV | exonic | ENSG00000135636 | NA | synonymous SNV | Score=521;Name=lod=175 | NA | 2p13.2 | Score=834;Name=V$MRF2_01 | NA | NA | NA | rs143475751 | 0.000399361 | 0.001 | NA | 0.0014 | NA | NA | 0.0009 | 0.001 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.36781 | NA | NA | 0.001047 | 0 | NA | NA | NA | 7.6637196 |
5 | 79351738 | 79351738 | A | G | exonic | THBS4 | NA | synonymous SNV | exonic | ENSG00000113296 | NA | synonymous SNV | NA | NA | 5q14.1 | NA | Name=EBF | Name=12 | NA | rs17882513 | 0.00339457 | 0.001 | NA | 0.0043 | 0.0098 | NA | 0.0015 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.651602 | NA | NA | 0.000581 | 0.007717 | NA | 0.007 | NA | 7.6635856 |
16 | 23080363 | 23080363 | G | A | exonic | USP31 | NA | synonymous SNV | exonic | ENSG00000103404 | NA | synonymous SNV | Score=366;Name=lod=41 | NA | 16p12.2 | Score=851;Name=V$FAC1_01 | NA | NA | NA | rs146554415 | 0.000798722 | 0.002 | NA | 0.0029 | NA | NA | 0.0006 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.36519 | NA | NA | 0.000581 | 0.000683 | NA | NA | NA | 7.6634856 |
1 | 6521701 | 6521701 | C | T | exonic | TNFRSF25 | NA | synonymous SNV | exonic | ENSG00000215788 | NA | synonymous SNV | Score=628;Name=lod=477 | NA | 1p36.31 | Score=860;Name=V$P300_01 | NA | NA | NA | rs149595085 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.0003 | 0.0041 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.547896 | 1.547896 | NA | 0.001047 | 0 | NA | NA | NA | 7.6633196 |
X | 2835964 | 2835964 | G | A | exonic | ARSD | NA | synonymous SNV | exonic | ENSG00000006756 | NA | synonymous SNV | NA | NA | Xp22.33 | NA | Name=HMGN3,CCNT2,YY1 | Name=5 | NA | rs73632972 | NA | NA | NA | NA | NA | NA | 0.0045 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.118953 | NA | NA | NA | NA | NA | NA | NA | 7.6621666 |
11 | 5717780 | 5717780 | C | T | exonic | TRIM22 | NA | synonymous SNV | exonic | ENSG00000132274 | NA | synonymous SNV | NA | NA | 11p15.4 | Score=820;Name=V$E4BP4_01 | NA | Name=7 | NA | rs61735271 | 0.00798722 | 0.002 | NA | 0.0115 | 0.0227 | NA | 0.0024 | 0.022 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.137621 | NA | NA | 0.000941 | 0.011516 | NA | 0.029 | NA | 7.6613256 |
10 | 102762598 | 102762598 | C | T | exonic | LZTS2 | NA | synonymous SNV | exonic | ENSG00000107816 | NA | synonymous SNV | Score=403;Name=lod=58 | NA | 10q24.31 | Score=714;Name=V$HOX13_01 | NA | NA | NA | rs117876479 | 0.00638978 | 0.003 | 0.0278 | 0.0014 | NA | NA | 0.0046 | 0.02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.445005 | 1.445005 | NA | 0.000349 | 0.000227 | NA | NA | NA | 7.6587176 |
11 | 16077331 | 16077331 | T | C | exonic | SOX6 | NA | synonymous SNV | exonic | ENSG00000110693 | NA | synonymous SNV | Score=739;Name=lod=1341 | NA | 11p15.2 | Score=850;Name=V$EVI1_04 | NA | NA | NA | rs146022326 | 0.00159744 | 0.004 | NA | 0.0043 | 0.0008 | NA | 0.0022 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.763303 | NA | NA | 0.00198 | 0.000682 | NA | NA | NA | 7.6584866 |
19 | 7594511 | 7594511 | C | T | exonic | MCOLN1 | NA | synonymous SNV | exonic | ENSG00000090674 | NA | synonymous SNV | Score=651;Name=lod=588 | NA | 19p13.2 | Score=782;Name=V$PAX2_01 | NA | NA | NA | rs147754092 | 0.00119808 | 0.003 | NA | NA | 0.0015 | 0.001 | 0.0025 | 0.003 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.451882 | 1.451882 | NA | 0.003023 | 0.000908 | NA | NA | NA | 7.6581436 |
21 | 47545949 | 47545949 | T | C | exonic | COL6A2 | NA | synonymous SNV | exonic | ENSG00000142173 | NA | synonymous SNV | Score=336;Name=lod=31 | NA | 21q22.3 | Score=905;Name=V$RORA1_01 | NA | NA | NA | rs61735830 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.0028 | 0.0038 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.113945 | NA | NA | 0.003837 | 0.000908 | NA | NA | NA | 7.6580296 |
19 | 13211508 | 13211508 | C | T | exonic | LYL1 | NA | synonymous SNV | exonic | ENSG00000104903 | NA | synonymous SNV | Score=573;Name=lod=284 | NA | 19p13.2 | NA | NA | Name=2 | NA | rs142687463 | 0.00159744 | 0.001 | NA | 0.0029 | NA | 0.0051 | 0.0039 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.374326 | 1.374326 | NA | 0.005116 | 0.001816 | ID=COSM565176;OCCURENCE=1(lung) | 0.007 | NA | 7.6566506 |
1 | 158262459 | 158262459 | C | T | exonic | CD1C | NA | synonymous SNV | exonic | ENSG00000158481 | NA | synonymous SNV | NA | NA | 1q23.1 | NA | NA | NA | NA | rs3138103 | 0.000998403 | 0.004 | NA | 0.0014 | NA | NA | 0.0028 | 0.0042 | . | . | . | . | . | . | . | . | 1.000 | N | . | . | . | . | -0.977 | T | 0.019 | T | 0.398 | 6.164 | -1.61 | -0.310 | -2.389 | 2.974 | 0.398461 | NA | NA | 0.004186 | 0.001362 | NA | NA | NA | 7.6556806 |
16 | 16208714 | 16208714 | G | A | exonic | ABCC1 | NA | synonymous SNV | exonic | ENSG00000103222 | NA | synonymous SNV | Score=412;Name=lod=63 | NA | 16p13.11 | Score=760;Name=V$PAX6_01 | NA | NA | NA | rs191017838 | 0.000798722 | 0.003 | NA | 0.0014 | NA | NA | 0.0034 | 0.0077 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.003538 | NA | NA | 0.007705 | 0.001157 | NA | NA | NA | 7.6525616 |
8 | 26220321 | 26220321 | A | G | exonic | PPP2R2A | NA | synonymous SNV | exonic | ENSG00000221914 | NA | synonymous SNV | Score=641;Name=lod=536 | NA | 8p21.2 | Score=830;Name=V$E4BP4_01 | NA | NA | NA | rs142156798 | 0.00279553 | 0.008 | NA | 0.0086 | NA | NA | 0.004 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.114223 | NA | NA | 0.002442 | 0.000681 | NA | NA | NA | 7.6522246 |
16 | 88744949 | 88744949 | G | T | exonic | SNAI3 | NA | synonymous SNV | exonic | ENSG00000185669 | NA | synonymous SNV | Score=439;Name=lod=81 | NA | 16q24.3 | Score=812;Name=V$CDPCR3_01 | NA | NA | NA | rs139375690 | 0.00419329 | 0.0089 | NA | 0.0029 | NA | 0.0102 | 0.0046 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.317645 | NA | NA | 0.00407 | 0.000227 | NA | NA | NA | 7.6490966 |
21 | 44299573 | 44299573 | C | T | exonic | WDR4 | NA | synonymous SNV | exonic | ENSG00000160193 | NA | synonymous SNV | NA | NA | 21q22.3 | Score=793;Name=V$CMYB_01 | Name=GABP,Sin3Ak-20,TAF1,HA-E2F1,Max,ELF1_(SC-631),E2F6,c-Myc,HDAC2_(SC-6296),YY1,GRp20,USF-1,ETS1,HEY1,YY1_(C-20),THAP1_(SC-98174),NRSF,eGFP-JunD,BRCA1_(C-1863),Pol2,Pol2(phosphoS2),c-Jun,E2F4,NFKB,ZNF263,Pol2-4H8,SRF,CEBPB,USF1_(SC-8983) | NA | NA | rs138295040 | 0.00299521 | 0.008 | 0.001 | 0.0029 | NA | 0.0041 | 0.0045 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 2.017281 | 2.017281 | NA | 0.005815 | 0.000454 | NA | NA | NA | 7.6483516 |
14 | 60938319 | 60938319 | T | C | exonic | C14orf39 | NA | synonymous SNV | exonic | ENSG00000179008 | NA | synonymous SNV | Score=517;Name=lod=168 | NA | 14q23.1 | Score=895;Name=V$MSX1_01 | NA | NA | NA | rs35543839 | 0.00319489 | 0.006 | 0.001 | 0.0014 | 0.0008 | 0.0072 | 0.0055 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.217291 | NA | NA | 0.007454 | 0.001817 | NA | 0.051 | NA | 7.6477126 |
3 | 48694471 | 48694471 | C | T | exonic | CELSR3 | NA | synonymous SNV | exonic | ENSG00000008300 | NA | synonymous SNV | Score=560;Name=lod=251 | NA | 3p21.31 | NA | NA | Name=7 | NA | rs145229058 | 0.00159744 | 0.005 | NA | 0.0043 | NA | NA | 0.006 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.199285 | NA | NA | 0.008843 | 0.001136 | ID=COSM166490;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) | NA | NA | 7.6468236 |
16 | 67220479 | 67220479 | G | A | exonic | EXOC3L1 | NA | synonymous SNV | exonic | ENSG00000179044 | NA | synonymous SNV | Score=412;Name=lod=63 | NA | 16q22.1 | NA | NA | Name=42 | NA | rs75613564 | 0.00199681 | 0.008 | NA | 0.0014 | 0.0008 | NA | 0.0051 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.896996 | NA | NA | 0.008023 | 0.00182 | NA | NA | NA | 7.6455436 |
15 | 68583172 | 68583172 | C | G | exonic | FEM1B | NA | synonymous SNV | exonic | ENSG00000169018 | NA | synonymous SNV | Score=428;Name=lod=73 | NA | 15q23 | Score=707;Name=V$BRACH_01 | NA | NA | NA | rs143637660 | 0.00219649 | 0.0099 | NA | NA | NA | 0.001 | 0.0059 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.375857 | NA | NA | 0.006515 | 0.000909 | NA | NA | NA | 7.6443516 |
3 | 145913061 | 145913061 | G | T | exonic | PLSCR4 | NA | synonymous SNV | exonic | ENSG00000114698 | NA | synonymous SNV | NA | NA | 3q24 | NA | Name=c-Fos,c-Jun,GATA-2,Pol2(b) | Name=22 | NA | rs34467190 | 0.00379393 | 0.0129 | NA | 0.0014 | 0.0008 | 0.0041 | 0.0057 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.183986 | NA | NA | 0.007093 | 0.001362 | NA | 0.007 | NA | 7.6409736 |
3 | 49688155 | 49688155 | C | T | exonic | BSN | NA | synonymous SNV | exonic | ENSG00000164061 | NA | synonymous SNV | Score=361;Name=lod=39 | NA | 3p21.31 | Score=710;Name=V$NRSF_01 | NA | NA | NA | rs139787101 | 0.00219649 | 0.0089 | NA | 0.0014 | 0.0008 | NA | 0.0091 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.50166 | NA | NA | 0.009537 | 0.001817 | NA | NA | NA | 7.6391296 |
2 | 179396573 | 179396573 | T | G | exonic | TTN | NA | synonymous SNV | exonic | ENSG00000155657 | NA | synonymous SNV | Score=619;Name=lod=436 | NA | 2q31.2 | NA | NA | NA | NA | rs56375087 | 0.00379393 | 0.0159 | NA | 0.0043 | NA | NA | 0.01 | 0.02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.469225 | NA | NA | 0.006771 | 0.000517 | NA | NA | CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=single|single;CLNACC=RCV000040946.1|RCV000125986.1;CLNDSDB=.|.;CLNDSDBID=.|. | 7.6339956 |
9 | 115759518 | 115759518 | C | T | exonic | ZNF883 | NA | nonsynonymous SNV | ncRNA_exonic | ENSG00000228623 | NA | NA | NA | NA | 9q32 | NA | Name=KAP1,SETDB1 | Name=8 | NA | rs376231861 | NA | NA | NA | NA | NA | NA | 0.00008293 | 0.0002 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.926876 | NA | NA | 0 | 0.000234 | NA | NA | NA | 7.4999171 |
22 | 50956675 | 50956675 | C | T | exonic | NCAPH2 | NA | nonsynonymous SNV | exonic | ENSG00000025770 | NA | nonsynonymous SNV | NA | NA | 22q13.33 | NA | NA | NA | NA | rs139403039 | NA | NA | NA | NA | NA | NA | 0.00009176 | 0.0005 | 1 | T | 0.009 | B | 0.008 | B | 0.015 | N | 1.000 | N | 0 | N | . | . | -1.017 | T | 0.041 | T | 0.698 | 7.723 | 1.13 | 0.195 | -0.764 | 4.575 | 0.697691 | NA | 0.3 | 0.000116 | 0.000454 | ID=COSM1035498,COSM1154045;OCCURENCE=1(endometrium) | NA | NA | 7.3331256 |
14 | 23549797 | 23549797 | T | A | exonic | ACIN1 | NA | nonsynonymous SNV | exonic | ENSG00000100813 | NA | nonsynonymous SNV | NA | NA | 14q11.2 | NA | NA | NA | NA | rs143040721 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.00005766 | 0.0001 | 0.16 | T | 0.002 | B | 0.004 | B | 0.117 | N | 1.000 | N | 0.205 | N | 2.04 | T | -1.017 | T | 0.025 | T | 1.267 | 10.13 | 1.3 | 0.068 | -0.562 | 7.493 | 1.266771 | 1.266771 | 0.04 | 0.000116 | 0 | NA | NA | NA | 7.3321597 |
19 | 42729069 | 42729069 | C | A | exonic | ZNF526 | NA | nonsynonymous SNV | exonic | ENSG00000167625 | NA | nonsynonymous SNV | NA | NA | 19q13.2 | NA | NA | NA | NA | rs143231579 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.00006591 | 0.0003 | . | . | 0.041 | B | 0.025 | B | 0.800 | N | 1.000 | N | 1.39 | L | 3.0 | T | -0.961 | T | 0.022 | T | 0.826 | 8.328 | 0.807 | 0.584 | 0.878 | 4.251 | 0.825797 | NA | 0.02 | 0.000349 | 0 | NA | NA | NA | 7.3319185 |
19 | 55087463 | 55087463 | G | C | exonic | LILRA2 | NA | nonsynonymous SNV | exonic | ENSG00000239998 | NA | nonsynonymous SNV | NA | NA | 19q13.42 | NA | NA | NA | NA | rs140640200 | 0.00519169 | 0.001 | 0.001 | 0.0014 | NA | 0.0235 | 0.001 | 0.004 | . | . | 0.0 | B | 0.001 | B | 0.101 | N | 1.000 | N | -3.575 | N | 4.11 | T | -0.843 | T | 0.001 | T | -1.247 | 0.052 | -0.756 | 0.048 | -0.372 | 2.962 | -1.246702 | NA | 0.53 | 0.000581 | 0.000227 | NA | NA | NA | 7.3307524 |
9 | 21239552 | 21239552 | C | T | exonic | IFNA14 | NA | nonsynonymous SNV | exonic | ENSG00000228083 | NA | nonsynonymous SNV | NA | NA | 9p21.3 | NA | NA | NA | NA | rs28383770 | 0.00239617 | 0.003 | NA | 0.0086 | 0.0008 | 0.002 | 0.0023 | 0.01 | 0.07 | T | 0.002 | B | 0.027 | B | 0.677 | N | 1.000 | N | 1.54 | L | 3.5 | T | -0.976 | T | 0.013 | T | 0.683 | 7.653 | -0.705 | -0.028 | -0.575 | 6.54 | 0.68335 | NA | 0.07 | 0.004651 | 0 | NA | NA | NA | 7.3233824 |
1 | 248458766 | 248458766 | T | C | exonic | OR2T12 | NA | nonsynonymous SNV | exonic | ENSG00000177201 | NA | nonsynonymous SNV | NA | NA | 1q44 | NA | NA | NA | NA | rs41310573 | 0.00758786 | 0.005 | 0.001 | 0.0043 | 0.0219 | NA | 0.0029 | 0.03 | 1 | T | 0.0 | B | 0.0 | B | 0.199 | N | 1.000 | N | -2.915 | N | 8.1 | T | -0.950 | T | 0.000 | T | -1.437 | 0.02 | 1.55 | -0.159 | 0.656 | 7.423 | -1.436879 | NA | 1 | 0.002442 | 0.008625 | ID=COSM1341135;OCCURENCE=1(large_intestine) | NA | NA | 7.3229914 |
19 | 4891564 | 4891564 | C | T | exonic | ARRDC5 | NA | nonsynonymous SNV | exonic | ENSG00000205784 | NA | nonsynonymous SNV | NA | NA | 19p13.3 | NA | NA | NA | NA | rs117229323 | 0.00239617 | 0.006 | NA | 0.0058 | NA | 0.002 | 0.0039 | 0.01 | 0.57 | T | 0.003 | B | 0.003 | B | 0.005 | N | 1.000 | N | 0.975 | L | 2.12 | T | -1.006 | T | 0.019 | T | -0.329 | 2.439 | 0.412 | 0.339 | -0.074 | 4.368 | -0.329008 | NA | 0.67 | 0.004565 | 0.000753 | NA | NA | NA | 7.3188684 |
1 | 168013876 | 168013876 | G | A | exonic | DCAF6 | NA | nonsynonymous SNV | exonic | ENSG00000143164 | NA | nonsynonymous SNV | NA | NA | 1q24.2 | NA | NA | NA | NA | rs113151068 | 0.00199681 | 0.007 | NA | 0.0043 | NA | NA | 0.0026 | 0.01 | 0.58 | T | 0.044 | B | 0.022 | B | 0.054 | N | 1.000 | N | 0 | N | 1.45 | T | -0.971 | T | 0.009 | T | 1.73 | 11.75 | -1.27 | -0.094 | -0.343 | 1.901 | 1.730334 | 1.730334 | 0.15 | 0.005116 | 0.000227 | NA | NA | NA | 7.3186174 |
19 | 3752927 | 3752927 | C | T | exonic | APBA3 | NA | nonsynonymous SNV | exonic | ENSG00000011132 | NA | nonsynonymous SNV | NA | NA | 19p13.3 | NA | NA | NA | NA | rs117197891 | 0.00499201 | 0.0089 | NA | 0.0043 | 0.0008 | 0.0123 | 0.0069 | 0.01 | 0.37 | T | 0.0 | B | 0.0 | B | 0.135 | N | 1.000 | N | 0.525 | N | 0.55 | T | -1.052 | T | 0.055 | T | 0.458 | 6.489 | -1.63 | -0.298 | 0.035 | 8.902 | 0.458359 | NA | 0.06 | 0.008958 | 0.001362 | NA | NA | NA | 7.3085754 |
3 | 39175810 | 39175810 | C | T | exonic | TTC21A | NA | synonymous SNV | exonic | ENSG00000168026 | NA | synonymous SNV | NA | NA | 3p22.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.405211 | NA | NA | NA | NA | NA | NA | NA | 6.6666666 |
6 | 129813620 | 129813620 | C | T | exonic | LAMA2 | NA | synonymous SNV | exonic | ENSG00000196569 | NA | synonymous SNV | NA | NA | 6q22.33 | NA | NA | Name=19 | NA | rs3189618 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.729104 | NA | NA | NA | NA | NA | NA | NA | 6.6666666 |
10 | 17083149 | 17083149 | A | G | exonic | CUBN | NA | synonymous SNV | exonic | ENSG00000107611 | NA | synonymous SNV | NA | NA | 10p13 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.425768 | NA | NA | NA | NA | NA | NA | NA | 6.6666666 |
19 | 44536725 | 44536725 | T | C | exonic | ZNF222 | NA | synonymous SNV | exonic | ENSG00000159885 | NA | synonymous SNV | NA | NA | 19q13.31 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.139963 | NA | NA | NA | NA | NA | NA | NA | 6.6666666 |
4 | 8401310 | 8401310 | G | A | exonic | ACOX3 | NA | synonymous SNV | exonic | ENSG00000087008 | NA | synonymous SNV | NA | NA | 4p16.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008249 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.773892 | NA | NA | NA | NA | NA | NA | NA | 6.6666584 |
8 | 105459708 | 105459708 | A | G | exonic | DPYS | NA | synonymous SNV | exonic | ENSG00000147647 | NA | synonymous SNV | NA | NA | 8q22.3 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000008239 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.013054 | NA | NA | NA | NA | NA | NA | NA | 6.6666584 |
2 | 217280117 | 217280117 | C | T | exonic | SMARCAL1 | NA | synonymous SNV | exonic | ENSG00000138375 | NA | synonymous SNV | NA | NA | 2q35 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00001647 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.163757 | NA | NA | NA | NA | NA | NA | NA | 6.6666501 |
9 | 2077644 | 2077644 | C | T | exonic | SMARCA2 | NA | synonymous SNV | exonic | ENSG00000080503 | NA | synonymous SNV | Score=547;Name=lod=223 | NA | 9p24.3 | NA | NA | NA | NA | rs149890563 | 0.000199681 | NA | NA | NA | 0.0008 | NA | 0.00001648 | 0.002 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.595623 | NA | NA | NA | NA | NA | NA | NA | 6.6666501 |
3 | 53326567 | 53326567 | C | T | exonic | DCP1A | NA | synonymous SNV | exonic | ENSG00000162290 | NA | synonymous SNV | Score=295;Name=lod=21 | NA | 3p21.1 | NA | NA | NA | NA | rs200307108 | NA | NA | NA | NA | NA | NA | 0.00001659 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 2.395762 | 2.395762 | NA | NA | NA | NA | NA | NA | 6.66665 |
9 | 38395910 | 38395910 | G | A | exonic | ALDH1B1 | NA | synonymous SNV | exonic | ENSG00000137124 | NA | synonymous SNV | NA | NA | 9p13.2 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00002473 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.349347 | NA | NA | NA | NA | NA | NA | NA | 6.6666419 |
19 | 35786682 | 35786682 | G | A | exonic | MAG | NA | synonymous SNV | exonic | ENSG00000105695 | NA | synonymous SNV | NA | NA | 19q13.12 | Score=867;Name=V$SPZ1_01 | NA | NA | NA | rs199750254 | 0.000199681 | NA | NA | NA | NA | 0.001 | 0.00002476 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.174811 | NA | NA | NA | NA | ID=COSM994929,COSM994928;OCCURENCE=1(large_intestine),1(endometrium) | NA | NA | 6.6666418 |
17 | 8046779 | 8046779 | G | A | exonic | PER1 | NA | synonymous SNV | exonic | ENSG00000179094 | NA | synonymous SNV | NA | NA | 17p13.1 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00003935 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.515826 | NA | NA | NA | NA | NA | NA | NA | 6.6666273 |
22 | 19967453 | 19967453 | C | T | exonic | ARVCF | NA | synonymous SNV | exonic | ENSG00000099889 | NA | synonymous SNV | NA | NA | 22q11.21 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00006909 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.390619 | NA | NA | NA | NA | NA | NA | NA | 6.6665975 |
9 | 74300191 | 74300191 | G | A | exonic | TMEM2 | NA | synonymous SNV | exonic | ENSG00000135048 | NA | synonymous SNV | NA | NA | 9q21.13 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00007417 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.162327 | NA | NA | NA | NA | NA | NA | NA | 6.6665924 |
21 | 43531675 | 43531675 | C | T | exonic | UMODL1 | NA | synonymous SNV | exonic | ENSG00000177398 | NA | synonymous SNV | NA | NA | 21q22.3 | NA | Name=EBF | NA | NA | rs201648916 | 0.000399361 | NA | NA | NA | 0.0015 | NA | 0.0001 | 0.002 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.005235 | NA | NA | NA | NA | NA | NA | NA | 6.6665666 |
1 | 28599160 | 28599160 | C | T | exonic | SESN2 | NA | synonymous SNV | exonic | ENSG00000130766 | NA | synonymous SNV | Score=496;Name=lod=138 | NA | 1p35.3 | NA | NA | NA | NA | rs147643685 | NA | NA | NA | NA | NA | NA | 0.00003296 | 0.0002 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.240248 | 1.240248 | NA | 0.000116 | 0.000227 | NA | NA | NA | 6.6665176 |
8 | 75929142 | 75929142 | T | C | exonic | CRISPLD1 | NA | synonymous SNV | exonic | ENSG00000121005 | NA | synonymous SNV | Score=560;Name=lod=251 | NA | 8q21.11 | NA | NA | NA | NA | rs200626463 | NA | NA | NA | NA | NA | NA | 0.0002 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.411363 | NA | NA | 0.000118 | 0 | NA | NA | NA | 6.6663486 |
15 | 80464532 | 80464532 | C | A | exonic | FAH | NA | synonymous SNV | exonic | ENSG00000103876 | NA | synonymous SNV | Score=440;Name=lod=82 | NA | 15q25.1 | NA | NA | NA | NA | rs147016995 | 0.000399361 | NA | NA | NA | 0.0015 | NA | 0.00009063 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.224893 | NA | NA | 0.000233 | 0 | NA | 0.007 | NA | 6.666343 |
12 | 7361754 | 7361754 | C | T | exonic | PEX5 | NA | synonymous SNV | exonic | ENSG00000139197 | NA | synonymous SNV | Score=533;Name=lod=195 | NA | 12p13.31 | NA | NA | NA | NA | rs143571888 | NA | NA | NA | NA | NA | NA | 0.0003 | 0.0005 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.934377 | NA | NA | 0.000233 | 0.000454 | NA | NA | NA | 6.6661336 |
17 | 56688605 | 56688605 | G | A | exonic | TEX14 | NA | synonymous SNV | exonic | ENSG00000121101 | NA | synonymous SNV | Score=451;Name=lod=91 | NA | 17q22 | NA | NA | NA | NA | rs192936672 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0002 | 0.0013 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.117293 | NA | NA | NA | NA | NA | NA | NA | 6.6654666 |
1 | 55224346 | 55224346 | C | T | exonic | PARS2 | NA | synonymous SNV | exonic | ENSG00000162396 | NA | synonymous SNV | NA | NA | 1p32.3 | Score=761;Name=V$TCF11MAFG_01 | NA | NA | NA | rs145967472 | 0.00119808 | NA | NA | NA | 0.0045 | NA | 0.0009 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.40927 | NA | NA | 0.000349 | 0.01044 | NA | NA | NA | 6.6654176 |
19 | 52825796 | 52825796 | A | G | exonic | ZNF480 | NA | synonymous SNV | exonic | ENSG00000198464 | NA | synonymous SNV | NA | NA | 19q13.41 | NA | Name=SETDB1 | NA | NA | rs150701576 | 0.00259585 | NA | NA | NA | 0.0098 | NA | 0.0008 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.378952 | NA | NA | 0.000465 | 0.00522 | NA | NA | NA | 6.6654016 |
1 | 109805587 | 109805587 | G | T | exonic | CELSR2 | NA | synonymous SNV | exonic | ENSG00000143126 | NA | synonymous SNV | Score=395;Name=lod=54 | NA | 1p13.3 | NA | NA | NA | NA | rs200841982 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0002 | 0.0001 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.774455 | NA | NA | 0.000116 | 0 | NA | NA | NA | 6.6653506 |
13 | 33273973 | 33273973 | A | C | exonic | PDS5B | NA | synonymous SNV | exonic | ENSG00000083642 | NA | synonymous SNV | Score=701;Name=lod=941 | NA | 13q13.1 | NA | NA | NA | NA | rs371816913 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0003 | 0.0001 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.263981 | 1.263981 | NA | 0.000123 | 0 | NA | NA | NA | 6.6652436 |
3 | 46593058 | 46593058 | G | A | exonic | LRRC2 | NA | synonymous SNV | exonic | ENSG00000163827 | NA | synonymous SNV | Score=428;Name=lod=73 | NA | 3p21.31 | NA | NA | NA | NA | rs146344015 | 0.000599042 | 0.001 | NA | NA | NA | 0.002 | 0.0002 | 0.0003 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.099416 | NA | NA | 0.000349 | 0.000227 | NA | NA | NA | 6.6651176 |
10 | 87373299 | 87373299 | G | A | exonic | GRID1 | NA | synonymous SNV | exonic | ENSG00000182771 | NA | synonymous SNV | Score=516;Name=lod=166 | NA | 10q23.1 | NA | NA | NA | NA | rs150033140 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0002 | 0.0003 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.053053 | NA | NA | 0.000349 | 0 | NA | NA | NA | 6.6651176 |
19 | 41269551 | 41269551 | C | T | exonic | SNRPA | NA | synonymous SNV | exonic | ENSG00000077312 | NA | synonymous SNV | Score=591;Name=lod=337 | NA | 19q13.2 | NA | NA | NA | NA | rs116493527 | 0.00519169 | NA | 0.003 | 0.0058 | 0.0144 | NA | 0.0017 | 0.02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.166233 | NA | NA | 0.000116 | 0.011348 | NA | NA | NA | 6.6648506 |
19 | 33703254 | 33703254 | G | A | exonic | SLC7A10 | NA | synonymous SNV | exonic | ENSG00000130876 | NA | synonymous SNV | Score=618;Name=lod=434 | NA | 19q13.11 | NA | NA | NA | NA | rs115581846 | 0.00658946 | NA | NA | 0.0014 | 0.0242 | NA | 0.0021 | 0.022 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.511205 | 1.511205 | NA | 0.000349 | 0.0202 | NA | 0.014 | NA | 6.6642176 |
1 | 205764031 | 205764031 | G | A | exonic | SLC41A1 | NA | synonymous SNV | exonic | ENSG00000133065 | NA | synonymous SNV | Score=579;Name=lod=301 | NA | 1q32.1 | NA | NA | NA | NA | rs151305052 | 0.000399361 | NA | NA | NA | NA | 0.002 | 0.0013 | 0.0012 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.369635 | 1.369635 | NA | 0.001163 | 0.000454 | NA | NA | NA | 6.6642036 |
10 | 76979070 | 76979070 | A | G | exonic | VDAC2 | NA | synonymous SNV | exonic | ENSG00000165637 | NA | synonymous SNV | Score=615;Name=lod=422 | NA | 10q22.2 | NA | NA | NA | NA | rs144704103 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0009 | 0.0013 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.805591 | NA | NA | 0.000698 | 0 | NA | NA | NA | 6.6640686 |
21 | 45746685 | 45746685 | C | T | exonic | PFKL | NA | synonymous SNV | exonic | ENSG00000141959 | NA | synonymous SNV | Score=604;Name=lod=380 | NA | 21q22.3 | NA | NA | NA | NA | rs146583875 | 0.000798722 | 0.002 | NA | 0.0029 | NA | NA | 0.0009 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.107598 | NA | NA | 0.000349 | 0.000682 | NA | NA | NA | 6.6634176 |
10 | 82269185 | 82269185 | C | T | exonic | TSPAN14 | NA | synonymous SNV | exonic | ENSG00000108219 | NA | synonymous SNV | Score=548;Name=lod=224 | NA | 10q23.1 | NA | NA | NA | NA | rs116583360 | 0.00459265 | 0.001 | NA | 0.0043 | 0.0136 | 0.001 | 0.0019 | 0.012 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.414124 | 1.414124 | NA | 0.000581 | 0.011802 | ID=COSM197151;OCCURENCE=1(pancreas),1(large_intestine) | 0.007 | NA | 6.6631856 |
3 | 9055435 | 9055435 | G | A | exonic | SRGAP3 | NA | synonymous SNV | exonic | ENSG00000196220 | NA | synonymous SNV | Score=618;Name=lod=432 | NA | 3p25.3 | NA | NA | NA | NA | rs145531861 | 0.000199681 | NA | NA | NA | 0.0008 | NA | 0.0014 | 0.0023 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.003317 | NA | NA | 0.002326 | 0.000227 | NA | NA | NA | 6.6629406 |
22 | 21383661 | 21383661 | G | A | exonic | SLC7A4 | NA | synonymous SNV | exonic | ENSG00000099960 | NA | synonymous SNV | Score=590;Name=lod=332 | NA | 22q11.21 | NA | NA | NA | NA | rs45618435 | 0.000998403 | 0.001 | NA | 0.0058 | NA | NA | 0.0013 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.043046 | NA | NA | 0.001628 | 0.000908 | NA | NA | NA | 6.6627386 |
2 | 219887947 | 219887947 | G | T | exonic | CCDC108 | NA | synonymous SNV | exonic | ENSG00000181378 | NA | synonymous SNV | Score=385;Name=lod=49 | NA | 2q35 | NA | NA | NA | NA | rs146417352 | 0.00199681 | 0.001 | 0.001 | NA | NA | 0.0082 | 0.0022 | 0.0009 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.881703 | NA | NA | 0.00093 | 0.000227 | NA | NA | NA | 6.6625366 |
10 | 62038547 | 62038547 | G | A | exonic | ANK3 | NA | synonymous SNV | exonic | ENSG00000151150 | NA | synonymous SNV | Score=604;Name=lod=381 | NA | 10q21.2 | NA | NA | NA | NA | rs77316697 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.0006 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.37764 | 1.37764 | NA | 0.00186 | 0.000454 | NA | 0.007 | NA | 6.6622066 |
7 | 20689734 | 20689734 | G | A | exonic | ABCB5 | NA | synonymous SNV | exonic | ENSG00000004846 | NA | synonymous SNV | Score=500;Name=lod=143 | NA | 7p21.1 | NA | NA | NA | NA | rs139633934 | 0.00139776 | 0.002 | NA | 0.0058 | 0.0008 | NA | 0.0011 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.903532 | NA | NA | 0.001815 | 0 | NA | 0.007 | NA | 6.6617516 |
16 | 57206205 | 57206205 | C | T | exonic | FAM192A | NA | synonymous SNV | exonic | ENSG00000172775 | NA | synonymous SNV | Score=685;Name=lod=811 | NA | 16q13 | NA | NA | NA | NA | rs180702754 | 0.000798722 | 0.001 | NA | 0.0014 | NA | 0.002 | 0.0017 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.018266 | NA | NA | 0.002322 | 0 | NA | 0.007 | NA | 6.6616446 |
3 | 121260205 | 121260205 | G | A | exonic | POLQ | NA | synonymous SNV | exonic | ENSG00000051341 | NA | synonymous SNV | Score=652;Name=lod=595 | NA | 3q13.33 | NA | NA | NA | NA | rs142289848 | 0.00119808 | 0.003 | NA | 0.0043 | NA | NA | 0.0007 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.81806 | NA | NA | 0.001395 | 0.000681 | NA | NA | NA | 6.6615716 |
2 | 172926350 | 172926350 | G | A | exonic | METAP1D | NA | synonymous SNV | exonic | ENSG00000172878 | NA | synonymous SNV | Score=525;Name=lod=182 | NA | 2q31.1 | NA | NA | NA | NA | rs149714087 | 0.000798722 | 0.001 | NA | NA | 0.0023 | NA | 0.0015 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.12063 | NA | NA | 0.002791 | 0.001135 | NA | NA | NA | 6.6613756 |
9 | 137803106 | 137803106 | G | A | exonic | FCN1 | NA | synonymous SNV | exonic | ENSG00000085265 | NA | synonymous SNV | NA | NA | 9q34.3 | Score=732;Name=V$SEF1_C | NA | NA | NA | rs142943184 | 0.000599042 | 0.003 | NA | NA | NA | NA | 0.0018 | 0.0026 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.394818 | NA | NA | 0.001628 | 0 | NA | NA | NA | 6.6602386 |
4 | 95198229 | 95198229 | C | G | exonic | SMARCAD1 | NA | synonymous SNV | exonic | ENSG00000163104 | NA | synonymous SNV | Score=681;Name=lod=779 | NA | 4q22.3 | NA | NA | NA | NA | rs61762662 | 0.000599042 | 0.003 | NA | NA | NA | NA | 0.002 | 0.0015 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.090326 | NA | NA | 0.001512 | 0.000454 | NA | NA | NA | 6.6601546 |
6 | 88854082 | 88854082 | G | A | exonic | CNR1 | NA | synonymous SNV | exonic | ENSG00000118432 | NA | synonymous SNV | Score=435;Name=lod=78 | NA | 6q15 | NA | NA | NA | NA | rs144233963 | 0.0071885 | 0.002 | NA | 0.0043 | 0.0234 | NA | 0.0033 | 0.02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.574087 | NA | NA | 0.001395 | 0.019973 | NA | NA | NA | 6.6599716 |
16 | 2027195 | 2027195 | C | T | exonic | TBL3 | NA | synonymous SNV | exonic | ENSG00000183751 | NA | synonymous SNV | Score=455;Name=lod=94 | NA | 16p13.3 | NA | NA | NA | NA | rs148169075 | 0.00139776 | 0.003 | NA | 0.0058 | NA | NA | 0.0016 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.224139 | NA | NA | 0.002559 | 0.000455 | NA | NA | NA | 6.6595076 |
1 | 204197978 | 204197978 | T | C | exonic | PLEKHA6 | NA | synonymous SNV | exonic | ENSG00000143850 | NA | synonymous SNV | Score=467;Name=lod=105 | NA | 1q32.1 | NA | NA | NA | NA | rs142113537 | 0.000599042 | 0.002 | NA | 0.0014 | NA | NA | 0.0018 | 0.0035 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.063056 | NA | NA | 0.003488 | 0.000681 | NA | NA | NA | 6.6593786 |
6 | 38690855 | 38690855 | G | C | exonic | DNAH8 | NA | synonymous SNV | exonic | ENSG00000124721 | NA | synonymous SNV | NA | NA | 6p21.2 | NA | Name=Pol2-4H8,Pol2(b) | NA | NA | rs180723141 | 0.00139776 | 0.003 | NA | 0.0043 | NA | 0.001 | 0.0026 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.669405 | NA | NA | 0.002762 | 0.000571 | NA | NA | NA | 6.6583046 |
11 | 45986980 | 45986980 | G | A | exonic | PHF21A | NA | synonymous SNV | exonic | ENSG00000135365 | NA | synonymous SNV | Score=723;Name=lod=1155 | NA | 11p11.2 | NA | NA | NA | NA | rs35646259 | 0.000798722 | 0.003 | NA | 0.0014 | NA | NA | 0.0019 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.361724 | 1.361724 | NA | 0.003605 | 0.001817 | NA | NA | NA | 6.6581616 |
2 | 11778907 | 11778907 | C | T | exonic | GREB1 | NA | synonymous SNV | exonic | ENSG00000196208 | NA | synonymous SNV | Score=529;Name=lod=188 | NA | 2p25.1 | NA | NA | NA | NA | rs138273238 | 0.00139776 | 0.005 | NA | NA | NA | 0.002 | 0.0011 | 0.004 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.082463 | NA | NA | 0.002549 | 0.000526 | NA | NA | NA | 6.6580176 |
6 | 111527803 | 111527803 | T | C | exonic | SLC16A10 | NA | synonymous SNV | exonic | ENSG00000112394 | NA | synonymous SNV | NA | NA | 6q21 | Score=799;Name=V$OCT1_04 | NA | NA | NA | rs149374548 | 0.00119808 | 0.005 | NA | NA | NA | 0.001 | 0.0021 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.742347 | NA | NA | 0.001628 | 0 | NA | NA | NA | 6.6579386 |
11 | 3039866 | 3039866 | G | A | exonic | CARS | NA | synonymous SNV | exonic | ENSG00000110619 | NA | synonymous SNV | Score=603;Name=lod=377 | NA | 11p15.4 | NA | NA | NA | NA | rs80041195 | 0.00119808 | 0.003 | NA | 0.0029 | NA | 0.001 | 0.0027 | 0.0031 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.399787 | NA | NA | 0.003141 | 0.000681 | NA | NA | NA | 6.6578256 |
12 | 57920935 | 57920935 | C | A | exonic | MBD6 | NA | synonymous SNV | exonic | ENSG00000166987 | NA | synonymous SNV | Score=654;Name=lod=605 | NA | 12q13.3 | NA | NA | NA | NA | rs76917839 | 0.00858626 | NA | NA | 0.0058 | 0.0287 | 0.001 | 0.0058 | 0.033 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.318036 | NA | NA | 0.003145 | 0.03297 | NA | 0.014 | NA | 6.6577216 |
9 | 94519645 | 94519645 | G | A | exonic | ROR2 | NA | synonymous SNV | exonic | ENSG00000169071 | NA | synonymous SNV | Score=444;Name=lod=85 | NA | 9q22.31 | NA | NA | NA | NA | rs145568368 | 0.000798722 | 0.003 | NA | NA | 0.0008 | NA | 0.0027 | 0.0047 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.837016 | NA | NA | 0.004651 | 0.001362 | NA | NA | NA | 6.6563156 |
5 | 118969692 | 118969692 | A | G | exonic | FAM170A | NA | synonymous SNV | exonic | ENSG00000164334 | NA | synonymous SNV | NA | NA | 5q23.1 | Score=833;Name=V$TST1_01 | NA | NA | NA | rs148156357 | 0.00199681 | 0.005 | NA | 0.0029 | 0.0008 | 0.002 | 0.0036 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.205398 | NA | NA | 0.00373 | 0.001282 | NA | NA | NA | 6.6543366 |
6 | 7231521 | 7231521 | C | T | exonic | RREB1 | NA | synonymous SNV | exonic | ENSG00000124782 | NA | synonymous SNV | Score=455;Name=lod=94 | NA | 6p24.3 | NA | NA | NA | NA | rs148116530 | 0.00299521 | 0.003 | NA | NA | NA | 0.0123 | 0.0049 | 0.0051 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.237042 | 1.237042 | NA | 0.00512 | 0.000908 | NA | NA | NA | 6.6536466 |
17 | 67111065 | 67111065 | G | A | exonic | ABCA6 | NA | synonymous SNV | exonic | ENSG00000154262 | NA | synonymous SNV | Score=454;Name=lod=93 | NA | 17q24.3 | NA | NA | NA | NA | rs138479597 | 0.00139776 | 0.003 | NA | 0.0043 | 0.0008 | NA | 0.0033 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.478053 | NA | NA | 0.00686 | 0.000908 | NA | NA | NA | 6.6535066 |
9 | 134349958 | 134349958 | A | C | exonic | PRRC2B | NA | synonymous SNV | exonic | ENSG00000130723 | NA | synonymous SNV | Score=659;Name=lod=637 | NA | 9q34.13 | NA | NA | NA | NA | rs200268888 | 0.00159744 | 0.004 | NA | 0.0058 | NA | NA | 0.0035 | 0.0057 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.644339 | NA | NA | 0.005711 | 0.001595 | NA | NA | NA | 6.6534556 |
14 | 105850736 | 105850736 | C | T | exonic | PACS2 | NA | synonymous SNV | exonic | ENSG00000179364 | NA | synonymous SNV | Score=539;Name=lod=207 | NA | 14q32.33 | NA | NA | NA | NA | rs143071112 | 0.00179712 | 0.005 | NA | 0.0043 | 0.0008 | NA | 0.0042 | 0.0049 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.07223 | NA | NA | 0.004885 | 0.001135 | NA | NA | NA | 6.6525816 |
4 | 156634600 | 156634600 | T | C | exonic | GUCY1A3 | NA | synonymous SNV | exonic | ENSG00000164116 | NA | synonymous SNV | NA | NA | 4q32.1 | Score=775;Name=V$ER_Q6 | NA | NA | NA | rs143472664 | 0.00239617 | 0.006 | NA | 0.0072 | NA | 0.001 | 0.0036 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.52329 | NA | NA | 0.005 | 0.000681 | NA | NA | NA | 6.6520666 |
20 | 62319919 | 62319919 | G | A | exonic | RTEL1 | NA | synonymous SNV | exonic | ENSG00000026036,ENSG00000258366 | NA | synonymous SNV | NA | NA | 20q13.33 | NA | Name=Pol2,Pol2(phosphoS2) | NA | NA | rs116900568 | 0.00179712 | 0.006 | NA | 0.0043 | NA | NA | 0.0041 | 0.0049 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.542143 | NA | NA | 0.0049 | 0.000456 | ID=COSM35349;OCCURENCE=1(central_nervous_system) | NA | NA | 6.6516666 |
19 | 38189694 | 38189694 | G | A | exonic | ZNF607 | NA | synonymous SNV | exonic | ENSG00000198182 | NA | synonymous SNV | Score=414;Name=lod=64 | NA | 19q13.12 | NA | NA | NA | NA | rs117357379 | 0.00279553 | 0.006 | NA | 0.0101 | 0.0008 | NA | 0.0034 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.15107 | NA | NA | 0.005698 | 0.000908 | NA | 0.007 | NA | 6.6515686 |
15 | 86262383 | 86262383 | G | A | exonic | AKAP13 | NA | synonymous SNV | exonic | ENSG00000170776 | NA | synonymous SNV | NA | NA | 15q25.3 | NA | NA | Name=2 | NA | rs79991499 | 0.00239617 | 0.007 | NA | 0.0058 | 0.0008 | NA | 0.003 | 0.022 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.582599 | NA | NA | 0.00535 | 0.001362 | NA | 0.014 | NA | 6.6513166 |
7 | 33055315 | 33055315 | C | T | exonic | NT5C3A | NA | synonymous SNV | exonic | ENSG00000122643 | NA | synonymous SNV | Score=622;Name=lod=451 | NA | 7p14.3 | NA | NA | NA | NA | rs72555746 | 0.00938498 | 0.004 | 0.002 | 0.0029 | NA | 0.0399 | 0.0076 | 0.022 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.69355 | NA | NA | 0.004302 | 0.000908 | NA | 0.014 | NA | 6.6507646 |
7 | 32590951 | 32590951 | G | C | exonic | AVL9 | NA | synonymous SNV | exonic | ENSG00000105778 | NA | synonymous SNV | Score=662;Name=lod=655 | NA | 7p14.3 | NA | NA | NA | NA | rs146342571 | 0.00119808 | 0.003 | NA | 0.0029 | NA | 0.001 | 0.0048 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.825969 | NA | NA | 0.008265 | 0.001589 | NA | 0.007 | NA | 6.6506016 |
1 | 110256162 | 110256162 | C | G | exonic | GSTM5 | NA | synonymous SNV | exonic | ENSG00000134201 | NA | synonymous SNV | Score=551;Name=lod=231 | NA | 1p13.3 | NA | NA | NA | NA | rs144839885 | 0.0071885 | 0.0089 | NA | 0.0058 | NA | 0.0235 | 0.0079 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.01377 | NA | NA | NA | NA | NA | NA | NA | 6.6498666 |
9 | 3257122 | 3257122 | C | T | exonic | RFX3 | NA | synonymous SNV | exonic | ENSG00000080298 | NA | synonymous SNV | Score=758;Name=lod=1604 | NA | 9p24.2 | NA | NA | NA | NA | rs35483263 | 0.00119808 | 0.005 | NA | NA | NA | 0.001 | 0.0044 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.124845 | NA | NA | 0.007442 | 0.000908 | NA | NA | NA | 6.6498246 |
11 | 65304124 | 65304124 | C | T | exonic | SCYL1 | NA | synonymous SNV | exonic | ENSG00000142186 | NA | synonymous SNV | Score=514;Name=lod=163 | NA | 11q13.1 | NA | NA | NA | NA | rs56296579 | 0.00239617 | 0.008 | NA | 0.0029 | NA | 0.002 | 0.0041 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.713746 | 1.713746 | NA | 0.00567 | 0.001405 | NA | NA | NA | 6.6488966 |
1 | 29040799 | 29040799 | A | G | exonic | GMEB1 | NA | synonymous SNV | exonic | ENSG00000162419 | NA | synonymous SNV | NA | NA | 1p35.3 | Score=960;Name=V$AP2REP_01 | NA | NA | NA | rs16837667 | 0.00219649 | 0.004 | NA | 0.0014 | NA | 0.0061 | 0.0063 | 0.0083 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.437808 | NA | NA | 0.008256 | 0.001135 | NA | NA | NA | 6.6481106 |
1 | 154744807 | 154744807 | C | T | exonic | KCNN3 | NA | synonymous SNV | exonic | ENSG00000143603 | NA | synonymous SNV | Score=625;Name=lod=462 | NA | 1q21.3 | NA | NA | NA | NA | rs1051614 | 0.00439297 | 0.0089 | NA | 0.0101 | 0.0015 | 0.0041 | 0.0099 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 2.605586 | 2.605586 | NA | NA | NA | NA | 0.007 | NA | 6.6478666 |
2 | 17962924 | 17962924 | C | T | exonic | GEN1 | NA | synonymous SNV | exonic | ENSG00000178295 | NA | synonymous SNV | NA | NA | 2p24.2 | NA | Name=FOXA2_(SC-6554),FOXA1_(C-20),FOXA1_(SC-101058) | NA | NA | rs148781334 | 0.00339457 | 0.0089 | NA | 0.0072 | NA | 0.0031 | 0.0044 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.130331 | NA | NA | 0.006395 | 0.001816 | NA | NA | NA | 6.6469716 |
15 | 42632915 | 42632915 | A | G | exonic | GANC | NA | synonymous SNV | exonic | ENSG00000214013 | NA | synonymous SNV | Score=369;Name=lod=42 | NA | 15q15.1 | NA | NA | NA | NA | rs117264272 | 0.00319489 | 0.005 | NA | 0.0086 | NA | 0.0051 | 0.0063 | 0.022 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.214277 | NA | NA | 0.008607 | 0.001589 | NA | 0.014 | NA | 6.6467596 |
2 | 233347590 | 233347590 | C | T | exonic | ECEL1 | NA | synonymous SNV | exonic | ENSG00000171551 | NA | synonymous SNV | Score=569;Name=lod=274 | NA | 2q37.1 | NA | NA | NA | NA | rs1190429 | 0.00239617 | 0.0089 | NA | 0.0043 | NA | NA | 0.0032 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.059892 | NA | NA | 0.008023 | 0.001362 | NA | NA | NA | 6.6465436 |
19 | 53740849 | 53740849 | A | G | exonic | ZNF677 | NA | synonymous SNV | exonic | ENSG00000197928 | NA | synonymous SNV | NA | NA | 19q13.42 | NA | Name=SETDB1,ZNF274,KAP1 | NA | NA | rs147088386 | 0.00339457 | 0.0099 | NA | 0.0058 | 0.0008 | 0.002 | 0.0052 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.711707 | NA | NA | 0.00593 | 0.000908 | ID=COSM1396076;OCCURENCE=1(large_intestine) | NA | NA | 6.6456366 |
2 | 173352458 | 173352458 | C | G | exonic | ITGA6 | NA | synonymous SNV | exonic | ENSG00000091409 | NA | synonymous SNV | Score=531;Name=lod=191 | NA | 2q31.1 | NA | NA | NA | NA | rs61748247 | 0.00459265 | 0.008 | NA | 0.0014 | NA | 0.0143 | 0.0053 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.958749 | NA | NA | 0.007791 | 0.00227 | NA | NA | NA | 6.6455756 |
12 | 42491379 | 42491379 | T | A | exonic | GXYLT1 | NA | synonymous SNV | exonic | ENSG00000151233 | NA | synonymous SNV | Score=575;Name=lod=289 | NA | 12q12 | NA | NA | NA | NA | rs139072942 | 0.00319489 | 0.008 | NA | 0.0072 | NA | 0.0031 | 0.0053 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.340794 | NA | NA | 0.008177 | 0.000539 | NA | NA | NA | 6.6451896 |
11 | 4615949 | 4615949 | G | A | exonic | OR52I1 | NA | synonymous SNV | exonic | ENSG00000232268 | NA | synonymous SNV | Score=343;Name=lod=33 | NA | 11p15.4 | NA | NA | NA | NA | rs200573064 | 0.00319489 | 0.0109 | 0.001 | 0.0043 | NA | 0.001 | 0.0039 | 0.007 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.079148 | NA | NA | 0.00698 | 0.000454 | NA | NA | NA | 6.6448866 |
19 | 3661916 | 3661916 | G | A | exonic | PIP5K1C | NA | synonymous SNV | exonic | ENSG00000186111 | NA | synonymous SNV | Score=606;Name=lod=388 | NA | 19p13.3 | NA | NA | NA | NA | rs115136413 | 0.00219649 | 0.0089 | NA | 0.0014 | NA | 0.001 | 0.0059 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.17103 | NA | NA | 0.008256 | 0.001589 | NA | NA | NA | 6.6436106 |
3 | 120121656 | 120121656 | G | A | exonic | FSTL1 | NA | synonymous SNV | exonic | ENSG00000163430 | NA | synonymous SNV | NA | NA | 3q13.33 | Score=777;Name=V$PAX2_01 | NA | NA | NA | rs139355917 | 0.00239617 | 0.0099 | NA | 0.0014 | 0.0008 | NA | 0.0083 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.539513 | NA | NA | 0.008837 | 0.00227 | NA | NA | NA | 6.6396296 |
10 | 135086073 | 135086073 | T | C | exonic | ADAM8 | NA | nonsynonymous SNV | exonic | ENSG00000151651 | NA | nonsynonymous SNV | NA | NA | 10q26.3 | NA | NA | NA | NA | rs143275708 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.0007 | 0.0013 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.321908 | 1.321908 | 0.27 | 0.001279 | 0.000227 | NA | NA | NA | 6.3293544 |
4 | 86797 | 86797 | A | G | exonic | ZNF595 | NA | unknown | ncRNA_exonic | ENSG00000255436 | NA | NA | NA | NA | 4p16.3 | NA | Name=SETDB1,ZNF274,KAP1 | NA | NA | rs180742908 | 0.00199681 | 0.0089 | NA | 0.0014 | NA | NA | 0.0054 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.073377 | NA | NA | 0.006232 | 0.001873 | NA | NA | NA | 5.8128013 |
2 | 103300756 | 103300756 | G | A | exonic | SLC9A2 | NA | synonymous SNV | exonic | ENSG00000115616 | NA | synonymous SNV | NA | NA | 2q12.1 | NA | NA | NA | NA | rs201428753 | 0.000199681 | NA | NA | NA | 0.0008 | NA | 0.00004119 | 0.002 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.287988 | NA | NA | NA | NA | NA | NA | NA | 5.6666254 |
20 | 23669406 | 23669406 | C | T | exonic | CST4 | NA | synonymous SNV | exonic | ENSG00000101441 | NA | synonymous SNV | NA | NA | 20p11.21 | NA | NA | NA | NA | rs191660510 | 0.000599042 | NA | NA | 0.0014 | 0.0015 | NA | 0.0001 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.273506 | NA | NA | 0 | 0.000227 | NA | 0.007 | NA | 5.6665666 |
16 | 3487470 | 3487470 | A | G | exonic | ZNF597 | NA | synonymous SNV | exonic | ENSG00000167981 | NA | synonymous SNV | NA | NA | 16p13.3 | NA | NA | NA | NA | rs369212733 | NA | NA | NA | NA | NA | NA | 0.00003299 | 0.0001 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.287098 | NA | NA | 0.000116 | 0 | NA | NA | NA | 5.6665176 |
16 | 1575309 | 1575309 | C | T | exonic | IFT140 | NA | synonymous SNV | exonic | ENSG00000187535 | NA | synonymous SNV | NA | NA | 16p13.3 | NA | NA | NA | NA | rs374661866 | NA | NA | NA | NA | NA | NA | 0.0002 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.799387 | NA | NA | NA | NA | NA | NA | NA | 5.6664666 |
11 | 101833008 | 101833008 | A | G | exonic | KIAA1377 | NA | synonymous SNV | exonic | ENSG00000110318 | NA | synonymous SNV | NA | NA | 11q22.1 | NA | NA | NA | NA | rs373938848 | NA | NA | NA | NA | NA | NA | 0.00009149 | 0.0002 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.290791 | NA | NA | 0.000116 | 0.000227 | NA | NA | NA | 5.6664591 |
1 | 229738080 | 229738080 | G | A | exonic | TAF5L | NA | synonymous SNV | exonic | ENSG00000135801 | NA | synonymous SNV | NA | NA | 1q42.13 | NA | NA | NA | NA | rs150230938 | 0.000798722 | NA | NA | NA | 0.003 | NA | 0.00009886 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.419641 | NA | NA | 0.000116 | 0.000227 | NA | 0.007 | NA | 5.6664517 |
14 | 51259463 | 51259463 | C | T | exonic | NIN | NA | synonymous SNV | exonic | ENSG00000100503 | NA | synonymous SNV | NA | NA | 14q22.1 | NA | NA | NA | NA | rs146441468 | NA | NA | NA | NA | NA | NA | 0.0002 | 0.0001 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.168968 | NA | NA | 0.000116 | 0 | ID=COSM1370038,COSM1370040,COSM1370039;OCCURENCE=1(large_intestine) | NA | NA | 5.6663506 |
16 | 601653 | 601653 | C | T | exonic | SOLH | NA | synonymous SNV | exonic | ENSG00000103326 | NA | synonymous SNV | NA | NA | 16p13.3 | NA | NA | NA | NA | rs144075530 | 0.00259585 | NA | NA | 0.0014 | 0.0091 | NA | 0.0009 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.471488 | NA | NA | 0.000233 | 0.008864 | NA | 0.007 | NA | 5.6655336 |
19 | 53432483 | 53432483 | G | A | exonic | ZNF816-ZNF321P | NA | synonymous SNV | exonic | ENSG00000180257,ENSG00000221874 | NA | synonymous SNV | NA | NA | 19q13.41 | NA | NA | NA | NA | rs373329746 | NA | NA | NA | NA | NA | NA | 0.0006 | 0.0007 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.776614 | NA | NA | 0.000698 | 0 | NA | NA | NA | 5.6653686 |
17 | 7365991 | 7365991 | G | A | exonic | ZBTB4 | NA | synonymous SNV | exonic | ENSG00000174282 | NA | synonymous SNV | NA | NA | 17p13.1 | NA | NA | NA | NA | rs138237886 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0003 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.216933 | NA | NA | NA | NA | NA | NA | NA | 5.6653666 |
19 | 38851210 | 38851210 | C | T | exonic | CATSPERG | NA | synonymous SNV | exonic | ENSG00000099338 | NA | synonymous SNV | NA | NA | 19q13.2 | NA | NA | NA | NA | rs200137453 | 0.000599042 | 0.001 | NA | 0.0029 | NA | NA | 0.0004 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.092291 | NA | NA | NA | NA | NA | NA | NA | 5.6652666 |
9 | 117063988 | 117063988 | C | T | exonic | COL27A1 | NA | synonymous SNV | exonic | ENSG00000196739 | NA | synonymous SNV | NA | NA | 9q32 | NA | NA | NA | NA | rs142505089 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0003 | 0.0013 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.678869 | NA | NA | 0.000116 | 0 | ID=COSM1166305;OCCURENCE=1(large_intestine) | NA | NA | 5.6652506 |
10 | 15255283 | 15255283 | G | A | exonic | FAM171A1 | NA | synonymous SNV | exonic | ENSG00000148468 | NA | synonymous SNV | NA | NA | 10p13 | NA | NA | NA | NA | rs139938475 | 0.000199681 | 0.001 | NA | NA | NA | NA | 0.0002 | 0.0013 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.670128 | NA | NA | 0.000233 | 0 | NA | NA | NA | 5.6652336 |
14 | 65253668 | 65253668 | G | A | exonic | SPTB | NA | synonymous SNV | exonic | ENSG00000070182 | NA | synonymous SNV | NA | NA | 14q23.3 | NA | NA | NA | NA | rs147235045 | 0.00139776 | 0.001 | NA | 0.0014 | NA | 0.0051 | 0.0012 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.339591 | NA | NA | 0.001279 | 0.000227 | NA | 0.007 | NA | 5.6631876 |
13 | 37012831 | 37012831 | G | A | exonic | CCNA1 | NA | synonymous SNV | exonic | ENSG00000133101 | NA | synonymous SNV | NA | NA | 13q13.3 | NA | NA | NA | NA | rs61755283 | 0.00359425 | 0.002 | NA | 0.0043 | 0.0098 | NA | 0.0013 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.450022 | NA | NA | 0.000698 | 0.001816 | NA | 0.007 | NA | 5.6626686 |
12 | 56748273 | 56748273 | G | A | exonic | STAT2 | NA | synonymous SNV | exonic | ENSG00000170581 | NA | synonymous SNV | NA | NA | 12q13.3 | NA | NA | NA | NA | rs147605088 | 0.000599042 | 0.001 | NA | 0.0029 | NA | NA | 0.0018 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.033245 | NA | NA | 0.001512 | 0.000454 | NA | NA | NA | 5.6623546 |
18 | 13068921 | 13068921 | C | T | exonic | CEP192 | NA | synonymous SNV | exonic | ENSG00000101639 | NA | synonymous SNV | NA | NA | 18p11.21 | NA | NA | NA | NA | rs143041966 | 0.00119808 | 0.003 | NA | 0.0014 | NA | 0.002 | 0.001 | 0.0028 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.068828 | NA | NA | 0.000581 | 0 | NA | NA | NA | 5.6620856 |
7 | 4089011 | 4089011 | G | A | exonic | SDK1 | NA | synonymous SNV | exonic | ENSG00000146555 | NA | synonymous SNV | NA | NA | 7p22.2 | NA | NA | NA | NA | rs139642198 | 0.000399361 | 0.002 | NA | NA | NA | NA | 0.0021 | 0.0027 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.080055 | NA | NA | 0.002674 | 0.000908 | NA | NA | NA | 5.6598926 |
7 | 47917126 | 47917126 | T | C | exonic | PKD1L1 | NA | synonymous SNV | exonic | ENSG00000158683 | NA | synonymous SNV | NA | NA | 7p12.3 | NA | NA | NA | NA | rs139854035 | 0.00239617 | 0.005 | NA | 0.0101 | NA | NA | 0.0011 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.22408 | NA | NA | 0.000814 | 0.000227 | NA | NA | NA | 5.6597526 |
20 | 31812949 | 31812949 | C | T | exonic | BPIFA3 | NA | synonymous SNV | exonic | ENSG00000131059 | NA | synonymous SNV | NA | NA | 20q11.21 | NA | NA | NA | NA | rs147632261 | 0.00479233 | 0.004 | NA | 0.0029 | 0.0136 | NA | 0.0019 | 0.02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.130387 | NA | NA | 0.001163 | 0.012256 | NA | 0.007 | NA | 5.6596036 |
3 | 195507993 | 195507993 | G | A | exonic | MUC4 | NA | synonymous SNV | exonic | ENSG00000145113 | NA | synonymous SNV | NA | NA | 3q29 | NA | NA | NA | NA | rs201179949 | 0.00179712 | 0.006 | NA | 0.0029 | NA | 0.001 | 0.0038 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.60326 | NA | NA | NA | NA | NA | NA | NA | 5.6568666 |
12 | 130898844 | 130898844 | G | A | exonic | RIMBP2 | NA | synonymous SNV | exonic | ENSG00000060709 | NA | synonymous SNV | NA | NA | 12q24.33 | NA | NA | NA | NA | rs117753238 | 0.00219649 | 0.005 | NA | 0.0043 | 0.0023 | NA | 0.0025 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.252501 | NA | NA | 0.002326 | 0.002043 | NA | NA | NA | 5.6568406 |
9 | 136337164 | 136337164 | C | G | exonic | SLC2A6 | NA | synonymous SNV | exonic | ENSG00000160326 | NA | synonymous SNV | NA | NA | 9q34.2 | NA | NA | NA | NA | rs142001028 | 0.000798722 | 0.003 | NA | 0.0014 | NA | NA | 0.0025 | 0.0053 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.425845 | NA | NA | 0.005349 | 0.001135 | NA | NA | NA | 5.6558176 |
14 | 96772075 | 96772075 | G | A | exonic | ATG2B | NA | synonymous SNV | exonic | ENSG00000066739 | NA | synonymous SNV | NA | NA | 14q32.2 | NA | NA | NA | NA | rs146028674 | 0.00199681 | 0.006 | NA | 0.0058 | NA | NA | 0.0022 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.060957 | NA | NA | 0.003372 | 0.001589 | NA | NA | NA | 5.6550946 |
9 | 20414298 | 20414298 | A | G | exonic | MLLT3 | NA | synonymous SNV | exonic | ENSG00000171843 | NA | synonymous SNV | NA | NA | 9p21.3 | NA | NA | NA | NA | rs143254940 | 0.00139776 | 0.005 | NA | 0.0014 | 0.0008 | NA | 0.0027 | 0.004 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.504768 | NA | NA | 0.003954 | 0.001135 | ID=COSM1569325;OCCURENCE=1(large_intestine) | NA | NA | 5.6550126 |
21 | 47664746 | 47664746 | C | T | exonic | MCM3AP | NA | synonymous SNV | exonic | ENSG00000160294 | NA | synonymous SNV | NA | NA | 21q22.3 | NA | NA | NA | NA | rs17183255 | 0.000998403 | 0.005 | NA | NA | NA | NA | 0.0023 | 0.0045 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.475805 | NA | NA | 0.004535 | 0.001362 | NA | NA | NA | 5.6548316 |
16 | 20996525 | 20996525 | G | A | exonic | DNAH3 | NA | synonymous SNV | exonic | ENSG00000158486 | NA | synonymous SNV | NA | NA | 16p12.3 | NA | NA | NA | NA | rs139502385 | 0.00159744 | 0.005 | NA | 0.0029 | NA | 0.001 | 0.0029 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.247373 | NA | NA | 0.004419 | 0.001817 | ID=COSM434832,COSM434831;OCCURENCE=1(breast) | NA | NA | 5.6543476 |
5 | 133901934 | 133901934 | C | T | exonic | PHF15 | NA | synonymous SNV | exonic | ENSG00000043143 | NA | synonymous SNV | NA | NA | 5q31.1 | NA | NA | NA | NA | rs148155246 | 0.000798722 | 0.004 | NA | NA | NA | NA | 0.0046 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.824129 | NA | NA | 0.003721 | 0.000454 | NA | NA | NA | 5.6543456 |
1 | 247835885 | 247835885 | G | C | exonic | OR13G1 | NA | synonymous SNV | exonic | ENSG00000197437 | NA | synonymous SNV | NA | NA | 1q44 | NA | NA | NA | NA | rs150242376 | 0.000798722 | 0.004 | NA | NA | NA | NA | 0.0036 | 0.0052 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.10829 | NA | NA | 0.005233 | 0.000681 | NA | NA | NA | 5.6538336 |
5 | 32093082 | 32093082 | G | T | exonic | PDZD2 | NA | synonymous SNV | exonic | ENSG00000133401 | NA | synonymous SNV | NA | NA | 5p13.3 | NA | NA | NA | NA | rs149447762 | 0.00199681 | 0.005 | NA | 0.0043 | 0.0008 | 0.001 | 0.0037 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.186449 | NA | NA | 0.005465 | 0.001362 | NA | NA | NA | 5.6525016 |
15 | 42167165 | 42167165 | T | C | exonic | SPTBN5 | NA | synonymous SNV | exonic | ENSG00000137877 | NA | synonymous SNV | NA | NA | 15q15.1 | NA | NA | NA | NA | rs111958620 | 0.00259585 | 0.004 | NA | 0.0043 | NA | 0.0061 | 0.0059 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.231043 | NA | NA | 0.005874 | 0.000493 | NA | 0.007 | NA | 5.6508926 |
7 | 72985185 | 72985185 | G | A | exonic | TBL2 | NA | synonymous SNV | exonic | ENSG00000106638 | NA | synonymous SNV | NA | NA | 7q11.23 | NA | NA | NA | NA | rs146437532 | 0.00279553 | 0.005 | NA | 0.013 | NA | NA | 0.0047 | 0.02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.243823 | NA | NA | 0.006164 | 0.001816 | NA | NA | NA | 5.6508026 |
19 | 51875732 | 51875732 | G | A | exonic | NKG7 | NA | synonymous SNV | exonic | ENSG00000105374 | NA | synonymous SNV | NA | NA | 19q13.41 | NA | NA | NA | NA | rs147628882 | 0.00239617 | 0.008 | NA | 0.0043 | NA | 0.001 | 0.0039 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.494658 | NA | NA | 0.005116 | 0.001135 | NA | NA | NA | 5.6496506 |
21 | 35821849 | 35821849 | C | T | exonic | KCNE1 | NA | synonymous SNV | exonic | ENSG00000180509 | NA | synonymous SNV | NA | NA | 21q22.12 | NA | NA | NA | NA | rs17173510 | 0.00379393 | 0.0089 | NA | 0.0144 | NA | NA | 0.0036 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.155574 | NA | NA | 0.005581 | 0.001362 | NA | 0.007 | NA | 5.6485856 |
8 | 42323380 | 42323380 | C | T | exonic | SLC20A2 | NA | synonymous SNV | exonic | ENSG00000168575 | NA | synonymous SNV | NA | NA | 8p11.21 | NA | NA | NA | NA | rs34124953 | 0.00519169 | 0.004 | NA | NA | NA | 0.0225 | 0.007 | 0.0077 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.033093 | NA | NA | 0.007674 | 0.000227 | NA | NA | NA | 5.6479926 |
19 | 43433676 | 43433676 | G | C | exonic | PSG7 | NA | nonsynonymous SNV | exonic | ENSG00000221878 | NA | unknown | NA | NA | 19q13.31 | NA | NA | NA | NA | rs146569565 | 0.00439297 | 0.008 | 0.0079 | 0.0043 | NA | 0.0031 | 0.0059 | 0.01 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.180333 | NA | NA | 0.007444 | 0.00159 | NA | NA | NA | 5.6453227 |
11 | 120929151 | 120929151 | C | G | exonic | TBCEL | NA | synonymous SNV | exonic | ENSG00000154114 | NA | synonymous SNV | NA | NA | 11q23.3 | NA | NA | NA | NA | rs35380371 | 0.00938498 | 0.008 | NA | 0.0072 | 0.0212 | 0.0061 | 0.0069 | 0.02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.969775 | NA | NA | 0.00849 | 0.01793 | NA | 0.007 | NA | 5.6432766 |
1 | 161641267 | 161641267 | G | A | exonic | FCGR2B | NA | synonymous SNV | exonic | ENSG00000072694 | NA | synonymous SNV | NA | NA | 1q23.3 | NA | NA | NA | NA | rs144573139 | 0.00379393 | 0.0139 | NA | 0.0014 | NA | 0.0041 | 0.0049 | 0.02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.134527 | NA | NA | 0.007326 | 0.000454 | NA | NA | NA | 5.6405406 |
18 | 43243802 | 43243802 | G | A | exonic | SLC14A2 | NA | synonymous SNV | exonic | ENSG00000132874 | NA | synonymous SNV | NA | NA | 18q12.3 | NA | NA | NA | NA | rs143263878 | 0.00798722 | 0.0149 | NA | 0.0101 | 0.0008 | 0.0174 | 0.0094 | 0.011 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.93294 | NA | NA | 0.007209 | 0.002043 | NA | 0.007 | NA | 5.6351576 |
11 | 128840872 | 128840872 | G | A | exonic | ARHGAP32 | NA | synonymous SNV | exonic | ENSG00000134909 | NA | synonymous SNV | NA | NA | 11q24.3 | NA | NA | NA | NA | rs61748829 | 0.00399361 | 0.0179 | NA | NA | NA | 0.002 | 0.0099 | 0.02 | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.179501 | NA | NA | 0.009891 | 0.002726 | NA | NA | NA | 5.6289756 |