Gene stringlengths 2 9 | Variation stringlengths 3 6 | CS stringclasses 2 values | SIFT_score float64 0 1 ⌀ | SIFT4G_score float64 0 1 ⌀ | Polyphen2_HDIV_score float64 0 1 ⌀ | Polyphen2_HVAR_score float64 0 1 ⌀ | LRT_score float64 0 1 ⌀ | MutationTaster_score float64 0 1 ⌀ | MutationAssessor_score float64 -4.75 5.59 ⌀ | FATHMM_score float64 -12.4 9.83 ⌀ | PROVEAN_score float64 -13.97 12.4 ⌀ | VEST4_score float64 0 1 ⌀ | MetaSVM_score float64 -1.5 1.56 ⌀ | MetaLR_score float64 0 1 ⌀ | MetaRNN_score float64 0 1 | M-CAP_score float64 0 1 ⌀ | REVEL_score float64 0 1 ⌀ | MutPred_score float64 0.03 1 ⌀ | MVP_score float64 0.01 1 ⌀ | gMVP_score float64 0 1 ⌀ | MPC_score float64 0 5 ⌀ | PrimateAI_score float64 0.15 0.97 ⌀ | DEOGEN2_score float64 0 1 ⌀ | BayesDel_addAF_score float64 -0.93 0.74 ⌀ | BayesDel_noAF_score float64 -1.21 0.83 ⌀ | ClinPred_score float64 0 1 ⌀ | LIST-S2_score float64 0 1 ⌀ | DANN_score float64 0.03 1 | fathmm-MKL_coding_score float64 0 1 | fathmm-XF_coding_score float64 0.01 0.99 ⌀ | GenoCanyon_score float64 0 1 | integrated_fitCons_score float64 0 0.84 ⌀ | GM12878_fitCons_score float64 0 0.96 ⌀ | H1-hESC_fitCons_score float64 0 0.86 ⌀ | HUVEC_fitCons_score float64 0 0.84 ⌀ | CADD_score float64 -2.8 8.31 | Eigen_score float64 -2.92 1.25 ⌀ | Eigen-PC_score float64 -2.99 1.14 ⌀ | GERP++_score float64 -12.3 6.17 ⌀ | phastCons100way_vertebrate_score float64 0 1 ⌀ | phastCons470way_mammalian_score float64 0 1 ⌀ | phastCons17way_primate_score float64 0 1 ⌀ | SiPhy_score float64 0.01 36.1 ⌀ | bStatistic_score float64 0 1k ⌀ | AlphaMissense_score float64 0.03 1 ⌀ | Envision_score float64 0.47 1.12 ⌀ | SuSPect_score float64 0 100 ⌀ | VARITY_R_score float64 0.01 1 ⌀ | VARITY_ER_score float64 0.01 0.99 ⌀ | VARITY_R_LOO_score float64 0.01 1 ⌀ | VARITY_ER_LOO_score float64 0.01 0.99 ⌀ | PONP2_score float64 0 1 ⌀ | DeepSAV_score float64 0 1 ⌀ | VESPA_score float64 -1 0.89 ⌀ | ESM1b_score float64 -22.2 9.82 ⌀ | CPT_score float64 0 0.92 ⌀ | EVE_score float64 0.01 1 ⌀ | ESM1v_score float64 -20.55 6.94 ⌀ | MutFormer_score float64 0 1 ⌀ | MISTIC_score float64 0.01 0.99 ⌀ | InMeRF_score float64 0 1 ⌀ | LASSIE_score float64 0 0 ⌀ | CAPICE_score float64 0 1 ⌀ | SIGMA_score float64 0 1 ⌀ | MutScore_score float64 0 1 ⌀ | UNEECON_score float64 0 0.98 ⌀ | PhDSNP_score float64 0 1 ⌀ | gnomAD_exomes_AF float64 0 1 ⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOC2L | A720T | Benign | 0.4 | 0.579 | 0.001 | 0.001 | 0.003829 | 1 | -0.72 | 1.96 | -0.14 | 0.046 | -1.0151 | 0.0229 | 0.011702 | 0.002951 | 0.015 | null | 0.260249 | 0.031789 | null | 0.349847 | 0.015219 | -0.637593 | -0.813085 | 0.015883 | 0.543646 | 0.59418 | 0.10394 | 0.03107 | 1 | 0.67177 | 0.702456 | 0.723109 | 0.636168 | -0.09246 | -1.642158 | -1.702714 | -7.82 | 0 | 0 | 0.003 | 10.8105 | 934 | 0.0668 | 0.999944 | 14 | 0.01927 | 0.046886 | 0.01927 | 0.046886 | 0.067 | 0.03936 | 0.279557 | -4.226 | 0.032511 | null | -4.653707 | 0.001593 | 0.072446 | 0.048808 | 0.000032 | 0.0001 | null | 0.018 | 0.000335 | 0.028 | 0.000035 |
NOC2L | R693W | Benign | 0.203 | 0.052 | 0.001 | 0 | 0.047121 | 1 | -0.805 | 1.86 | -2.34 | 0.2 | -1.0485 | 0.0278 | 0.020134 | 0.004708 | 0.004 | null | 0.320823 | 0.06329 | null | 0.190895 | 0.10367 | -0.651021 | -0.748456 | 0.012375 | 0.482752 | 0.62745 | 0.05979 | 0.060363 | 1 | 0.706548 | 0.697927 | 0.723109 | 0.714379 | 0.590135 | -1.701699 | -1.747946 | -4.15 | 0 | 0 | 0 | 1.2304 | 934 | 0.0765 | 0.978247 | 9 | 0.022529 | 0.027932 | 0.022529 | 0.027932 | 0.421 | 0.06578 | 0.424982 | -6.249 | 0.054198 | null | -6.646452 | 0.002446 | 0.248475 | 0.035761 | 0.000027 | 0.0002 | null | 0.05 | 0.000386 | 0.013 | 0.000104 |
NOC2L | N194S | Benign | 1 | 1 | 0.001 | 0.001 | 0.012855 | 0.998719 | -1.2 | -0.15 | 0.81 | 0.06 | -0.9618 | 0.0387 | 0.028279 | 0.00544 | 0.06 | 0.264 | 0.42057 | 0.121208 | null | 0.230925 | 0.016255 | -0.438611 | -0.665157 | 0.016659 | 0.70353 | 0.749177 | 0.14127 | 0.053288 | 0.99899 | 0.706548 | 0.697927 | 0.724815 | 0.714379 | 0.394635 | -1.273015 | -1.06313 | 1.1 | 0.946 | 0.999 | 0.382 | 5.4763 | 929 | 0.0539 | 1.01347 | 17 | 0.013258 | 0.020822 | 0.013258 | 0.020822 | 0.084 | 0.05549 | 0.266572 | -1.335 | 0.015051 | null | 0.002671 | 0.000401 | 0.023778 | 0.17211 | 0.000044 | 0.0026 | null | 0.01 | 0.000292 | 0.163 | 0.000012 |
ISG15 | G51C | Benign | 0.012 | 0.001 | 1 | 0.971 | 0.319759 | 1 | 3.41 | -3.38 | -5.55 | 0.202 | 0.3718 | 0.8768 | 0.01704 | 0.274395 | 0.288 | 0.679 | 0.801302 | 0.498949 | 0.785918 | 0.288742 | 0.368599 | -0.229171 | -0.102803 | 0.252144 | 0.393561 | 0.99434 | 0.19861 | 0.588751 | 1 | 0.72623 | 0.52208 | 0.594344 | 0.638787 | 2.042081 | -0.341085 | -0.676906 | -1.3 | 0 | 0 | 0 | 4.2785 | 929 | 0.2636 | 0.682515 | 81 | 0.611612 | 0.393799 | 0.681875 | 0.418642 | 0.545 | 0.36816 | 0.623321 | -7.575 | 0.311499 | null | -7.603365 | 0.715083 | 0.218106 | 0.486526 | 0.000479 | 0.0017 | null | 0.279 | 0.103066 | 0.023 | 0.000496 |
AGRN | P396L | Benign | 0.108 | 0.011 | null | null | 0.016117 | 0.861423 | 1.74 | -0.96 | -3.3 | 0.159 | -0.8615 | 0.2386 | 0.012102 | 0.10462 | 0.158 | null | 0.600262 | 0.321604 | 0.439824 | 0.548649 | null | -0.475968 | -0.461709 | 0.045678 | 0.552145 | 0.783694 | 0.14767 | 0.132659 | 0.978544 | 0.706548 | 0.724815 | 0.723109 | 0.562822 | 0.533526 | -1.114074 | -1.255908 | -2.3 | 0 | 0 | 0.016 | 4.6199 | 940 | 0.0847 | 0.988148 | 14 | null | null | null | null | 0.578 | 0.16901 | 0.392453 | -4.616 | 0.060377 | null | null | 0.002419 | 0.309812 | 0.092012 | 0.000161 | 0 | null | 0.044 | 0.00395 | 0.035 | 0.000233 |
AGRN | A493V | Benign | 1 | 0.906 | null | null | 0.875835 | 0.999949 | 0.455 | -0.84 | -0.28 | 0.188 | -0.9547 | 0.1459 | 0.180636 | 0.090442 | 0.087 | 0.578 | 0.467753 | 0.156237 | 0.305176 | 0.27628 | null | -0.334323 | -0.532105 | 0.029515 | 0.193081 | 0.35719 | 0.05108 | 0.088915 | 0.582766 | 0.732398 | 0.743671 | 0.723109 | 0.613276 | -0.143079 | -1.44417 | -1.507367 | -4.53 | 0 | 0 | 0 | 5.4591 | 940 | 0.0776 | 1.00179 | 5 | null | null | null | null | 0.329 | 0.15357 | 0.340154 | -2.868 | 0.023243 | null | null | 0.000537 | 0.044867 | 0.156707 | 0.000109 | 0.0001 | null | 0.005 | 0.004078 | 0.014 | 0.000013 |
AGRN | P757L | Benign | 0.003 | 0.008 | null | null | 0.023651 | 1 | 2.585 | -1.06 | -4.45 | 0.504 | -0.1682 | 0.3639 | 0.026369 | 0.326276 | 0.406 | null | 0.808729 | 0.403064 | 0.419393 | 0.536484 | null | -0.071535 | -0.153359 | 0.198548 | 0.889911 | 0.997055 | 0.6632 | 0.236815 | 0.999994 | 0.706548 | 0.724815 | 0.723109 | 0.714379 | 2.496454 | -0.173241 | -0.301846 | 4.5 | 0.585 | 0.99 | 0.007 | 15.3831 | 940 | 0.0844 | 0.978498 | 42 | null | null | null | null | 0.764 | 0.24546 | 0.401345 | -5.69 | 0.095542 | null | null | 0.000794 | 0.337035 | 0.313501 | 0.000492 | 0.0005 | null | 0.234 | 0.187903 | 0.325 | 0.000342 |
AGRN | T1044M | Benign | 0.076 | 0.043 | null | null | 0.263171 | 1 | 1.79 | -1.04 | -1.57 | 0.251 | -0.8588 | 0.3048 | 0.011678 | 0.164125 | 0.147 | null | 0.783508 | 0.280149 | 0.459646 | 0.31939 | null | -0.31675 | -0.386789 | 0.017779 | 0.626037 | 0.961524 | 0.06907 | 0.043348 | 0.162362 | 0.706548 | 0.702456 | 0.723109 | 0.714379 | 0.497571 | -0.873859 | -0.915882 | 1.37 | 0 | 0 | 0.003 | 6.6884 | 940 | 0.0874 | 0.985771 | 16 | null | null | null | null | 0.444 | 0.02694 | 0.34086 | -6.172 | 0.122315 | null | null | 0.000917 | 0.391261 | 0.241543 | 0.000131 | 0.0001 | null | 0.029 | 0.016961 | 0.034 | 0.000209 |
AGRN | A1506T | Benign | 0.018 | 0.015 | null | null | 0.013032 | 0.782814 | 0.77 | -0.96 | -0.47 | 0.174 | -0.6872 | 0.2471 | 0.009015 | 0.180719 | 0.193 | null | 0.774007 | 0.574822 | 0.445513 | 0.42179 | null | -0.404279 | -0.353639 | 0.138189 | 0.622938 | 0.989627 | 0.98547 | 0.939574 | 0.999969 | 0.67177 | 0.702456 | 0.723109 | 0.562822 | 2.998806 | -0.39144 | -0.337751 | 3.58 | 1 | 1 | 0.011 | 14.3906 | 940 | 0.105 | 0.993299 | 10 | null | null | null | null | 0.756 | 0.12665 | 0.275531 | -3.137 | 0.140863 | null | null | 0.000674 | 0.191832 | 0.340944 | 0.00046 | 0.0009 | null | 0.14 | 0.055349 | 0.121 | 0.000329 |
RNF223 | R175Q | Benign | 0.582 | 0.54 | null | null | null | 1 | -1.1 | -1.57 | 0.14 | 0.077 | -0.9367 | 0.1269 | 0.016156 | null | 0.131 | 0.218 | 0.128392 | 0.191446 | null | 0.671837 | 0.002028 | -0.18542 | -0.50412 | 0.01585 | 0.393961 | 0.843965 | 0.00681 | 0.028202 | 0.899507 | 0.517182 | 0.626922 | 0.478664 | 0.562822 | -0.330296 | -1.635299 | -1.696033 | -2.78 | 0 | 0 | 0 | 0.9385 | 940 | 0.0761 | 0.998286 | 8 | 0.019307 | 0.029181 | 0.019307 | 0.029181 | 0.038 | 0.0338 | 0.247234 | -4.295 | 0.010972 | null | -3.664057 | 0.001051 | 0.055582 | 0.122531 | 0.000001 | 0 | null | 0.015 | 0.002329 | 0.166 | 0.00008 |
TTLL10 | R46C | Benign | 0.13 | 0.004 | 0 | 0 | 0.000369 | 1 | -0.345 | 3.25 | -0.19 | 0.038 | -1.0053 | 0.0143 | 0.024643 | 0.001916 | 0.009 | 0.239 | 0.055136 | 0.104832 | 0.069014 | 0.252638 | 0.002459 | -0.64831 | -0.865899 | 0.032601 | 0.457454 | 0.793132 | 0.00728 | 0.028835 | 1 | 0.580535 | 0.59043 | 0.576033 | 0.562822 | 0.031748 | -1.76903 | -1.893245 | -5.13 | 0 | 0 | 0 | 1.5827 | 789 | 0.1347 | 0.973121 | 13 | 0.046638 | 0.033644 | 0.046638 | 0.033644 | 0.609 | 0.09522 | 0.479909 | -4.701 | 0.038372 | null | -4.682604 | 0.000121 | 0.021639 | 0.048713 | 0.000012 | 0.0019 | null | 0.063 | 0.00148 | 0.013 | 0.000059 |
TTLL10 | V540A | Benign | 1 | 1 | 0.001 | 0.005 | 0.389716 | 0.999979 | -0.73 | 3.29 | 0.52 | 0.1185 | -0.944 | 0.0095 | 0.039299 | 0.006686 | 0.037 | 0.645 | 0.040108 | 0.417179 | 0.030105 | 0.448938 | 0.002078 | -0.530688 | -0.80108 | 0.022614 | 0.50065 | 0.447126 | 0.00443 | 0.014805 | 0.029062 | 0.580535 | 0.547309 | 0.576033 | 0.562822 | 0.553165 | -1.293814 | -1.281755 | 0.996 | 0.41 | 0.928 | 0.079 | 5.3535 | 779 | 0.0989 | 1.02569 | 9 | 0.042324 | 0.042938 | 0.042324 | 0.042938 | 0.145 | 0.11132 | 0.499744 | 2.573 | 0.001911 | null | 0.28686 | 0.000225 | 0.019266 | 0.175325 | 0.000009 | 0.001 | null | 0.014 | 0.008577 | 0.039 | 0.000052 |
TTLL10 | H602R | Benign | 1 | 0.8 | 0 | 0 | null | 1 | 0 | 3.44 | 0.46 | 0.0715 | -0.9026 | 0.0067 | 0.006573 | 0.013392 | 0.003 | null | 0.029774 | 0.134506 | 0.030239 | 0.695459 | 0.005929 | -0.727053 | -0.847217 | 0.000542 | 0.29797 | 0.17408 | 0.0002 | 0.013573 | 0.026656 | 0.514905 | 0.547309 | 0.603688 | 0.562822 | -0.401468 | -1.765566 | -1.787112 | -1.8 | 0 | 0 | 0 | 5.2301 | 779 | 0.0564 | 1.03273 | 6 | 0.021677 | 0.038093 | 0.021677 | 0.038093 | 0.12 | 0.01717 | 0.27901 | -1.028 | 0.002828 | null | -1.652719 | 0.000313 | 0.074394 | 0.05184 | 0.000002 | 0.0001 | null | 0.008 | 0.000463 | 0.029 | 0.000892 |
B3GALT6 | M1T | Pathogenic | 0 | 0 | 0.244 | 0.026 | 0 | 1 | null | 0.78 | -1.67 | 0.599 | -1.0415 | 0.0883 | 0.970409 | 0.962865 | 0.203 | 0.873 | 0.498705 | 0.747096 | null | null | 0.007821 | 0.618043 | 0.65 | 0.968933 | 0.9 | 0.678207 | 0.98048 | 0.030717 | 1 | 0.437478 | 0.166054 | 0.166054 | 0.603991 | 2.745302 | -0.466779 | -0.469029 | 2.37 | 0.99 | 1 | 0.737 | 6.5062 | 745 | 0.5247 | 0.972355 | 10 | 0.931227 | 0.914312 | 0.931227 | 0.914312 | 1 | 0.97995 | 0.542181 | -7.532 | 0.263226 | null | -7.903601 | null | null | 0.218554 | 0.000211 | 0.037 | null | null | 0.030779 | 0.51 | null |
B3GALT6 | M1K | Pathogenic | 0 | 0 | 0.244 | 0.055 | 0 | 1 | null | 0.77 | -1.5 | 0.75 | -1.0371 | 0.0915 | 0.967868 | 0.977842 | 0.206 | 0.862 | 0.530261 | 0.892556 | null | null | 0.007759 | 0.618043 | 0.65 | 0.991885 | 0.9 | 0.933468 | 0.99069 | 0.037728 | 1 | 0.437478 | 0.166054 | 0.166054 | 0.603991 | 2.918249 | -0.458142 | -0.462929 | 2.37 | 0.99 | 1 | 0.737 | 6.5062 | 745 | 0.3874 | 0.958002 | 11 | 0.960393 | 0.950399 | 0.960393 | 0.950399 | 1 | 0.97174 | 0.542181 | -8.012 | 0.432182 | null | -8.11011 | null | null | 0.130996 | 0.000212 | 0.052 | null | null | 0.030938 | 0.683 | null |
B3GALT6 | M1I | Pathogenic | 0 | 0 | 0.063 | 0.026 | 0 | 1 | null | 0.87 | -1.03 | 0.772 | -0.9697 | 0.0951 | 0.963737 | 0.983468 | 0.231 | 0.839 | 0.639789 | 0.672621 | null | null | 0.006599 | 0.618043 | 0.65 | 0.997028 | 0.9 | 0.941787 | 0.99293 | 0.025276 | 1 | 0.437478 | 0.166054 | 0.166054 | 0.603991 | 2.875914 | -0.275556 | -0.228236 | 3.69 | 1 | 1 | 0.754 | 12.7179 | 745 | 0.6036 | 0.981654 | 7 | 0.956943 | 0.963736 | 0.956943 | 0.963736 | 1 | 0.98023 | 0.452406 | -8.933 | 0.442307 | null | -9.101837 | null | null | 0.350728 | 0.000267 | 0.2826 | null | null | 0.043177 | 0.861 | null |
ACAP3 | L539P | Benign | 0.016 | 0.099 | 0.963 | 0.839 | 0.748793 | 1 | null | 1.62 | -1.99 | 0.903 | -0.8488 | 0.2142 | 0.796874 | 0.053822 | 0.386 | null | 0.371532 | null | null | 0.808699 | null | 0.254285 | 0.127487 | 0.94313 | 0.920008 | 0.997658 | 0.99734 | 0.972413 | 1 | 0.634777 | 0.643519 | 0.723109 | 0.562822 | 3.954687 | 0.47087 | 0.434569 | 4.76 | 1 | 1 | 0.843 | 14.5483 | 779 | 0.0411 | 1.00009 | 6 | 0.037188 | 0.044606 | 0.037188 | 0.044606 | 0.103 | 0.03754 | 0.389553 | -2.667 | 0.008602 | null | -2.662155 | 0.007418 | 0.618684 | 0.13634 | 0.000539 | 0.4754 | null | 0.514 | 0.371805 | 0.979 | null |
CPTP | S4L | Benign | 0.368 | 0.363 | 0.001 | 0 | 0.288597 | 1 | -0.625 | null | -1.9 | 0.098 | -1.0519 | 0.0392 | 0.026582 | 0.004015 | 0.173 | 0.147 | 0.110078 | 0.091697 | 0.112379 | 0.259768 | 0.136716 | -0.343019 | -0.548353 | 0.017037 | 0.582242 | 0.848568 | 0.0252 | 0.084128 | 0.999961 | 0.706548 | 0.606735 | 0.723109 | 0.714379 | 0.45612 | -1.24319 | -1.290934 | -4.29 | 0 | 0 | 0.317 | 3.6455 | 764 | 0.0775 | 0.982068 | 10 | 0.02537 | 0.031334 | 0.02537 | 0.031334 | 0.055 | 0.05019 | 0.366457 | -4.498 | 0.0549 | null | -4.021567 | 0.006775 | 0.049322 | 0.091465 | 0.000177 | 0.0001 | null | 0.035 | 0.003377 | 0.015 | 0.000012 |
CPTP | R62Q | Benign | 0.884 | 0.849 | 0 | 0.001 | 0.002169 | 0.99988 | -2.56 | null | 1.44 | 0.108 | -0.983 | 0.0144 | 0.025933 | 0.002053 | 0.13 | null | 0.167679 | 0.047303 | 0.146694 | 0.324239 | 0.095126 | -0.25594 | -0.504787 | 0.01455 | 0.343316 | 0.726374 | 0.33297 | 0.056798 | 1 | 0.706548 | 0.643519 | 0.723109 | 0.714379 | 1.8314 | -0.931277 | -0.658799 | 3.88 | 1 | 1 | 0.976 | 7.9796 | 764 | 0.0609 | 1.01418 | 5 | 0.190628 | 0.115101 | 0.190628 | 0.115101 | 0.053 | 0.05915 | 0.229882 | -2.308 | 0.001052 | null | -0.804422 | 0.009717 | 0.024252 | 0.092778 | 0.000125 | 0.0045 | null | 0.025 | 0.001082 | 0.391 | 0.00003 |
CPTP | H85Y | Benign | 1 | 1 | 0 | 0.001 | 0.003668 | 1 | -1.685 | null | 2.32 | 0.152 | -0.9724 | 0.0179 | 0.019482 | 0.001956 | 0.045 | null | 0.197625 | 0.359899 | 0.148518 | 0.349792 | 0.10831 | -0.47293 | -0.511299 | 0.007524 | 0.648635 | 0.786063 | 0.08839 | 0.08263 | 0.999724 | 0.706548 | 0.643519 | 0.723109 | 0.714379 | 0.563656 | -1.263347 | -1.067948 | 1.4 | 0.327 | 1 | 0.015 | 4.4879 | 764 | 0.0447 | 1.01319 | 6 | 0.072573 | 0.062189 | 0.072573 | 0.062189 | 0.042 | 0.18506 | 0.201005 | -0.983 | 0.004006 | null | -2.070844 | 0.007481 | 0.017525 | 0.036823 | 0.000027 | 0.0001 | null | 0.036 | 0.002968 | 0.847 | 0.000065 |
CPTP | A139T | Benign | 0.918 | 0.708 | 0.001 | 0.002 | 0.027077 | 0.998995 | -1.275 | null | 0.08 | 0.046 | -0.9723 | 0.0168 | 0.021804 | 0.001275 | 0.039 | null | 0.159799 | 0.147306 | 0.122905 | 0.335438 | 0.094824 | -0.42217 | -0.736537 | 0.027229 | 0.645735 | 0.899972 | 0.22264 | 0.089133 | 0.99963 | 0.706548 | 0.643519 | 0.723109 | 0.714379 | 0.456372 | -1.414291 | -1.213447 | 0.194 | 0.977 | 0.993 | 0.415 | 4.8052 | 764 | 0.0628 | 1.00084 | 5 | 0.028822 | 0.035373 | 0.028822 | 0.035373 | 0.051 | 0.0443 | 0.346377 | -2.599 | 0.002352 | null | -3.32051 | 0.004751 | 0.113165 | 0.07346 | 0.000014 | 0 | null | 0.02 | 0.00066 | 0.006 | 0.000015 |
CCNL2 | R506H | Benign | 1 | 0.41 | 0.001 | 0 | 0.00303 | 0.998946 | -0.82 | 0.92 | 0.07 | 0.08 | -0.9763 | 0.0233 | 0.012852 | 0.006534 | 0.054 | null | 0.192905 | 0.173713 | 0.468812 | 0.294682 | 0.002077 | -0.524024 | -0.584693 | 0.00952 | 0.813119 | 0.228111 | 0.28971 | 0.091229 | 0.573331 | 0.706548 | 0.702456 | 0.697927 | 0.714379 | 0.869844 | -1.0467 | -0.806698 | 1.83 | 0.996 | 0.998 | 0.515 | 7.3147 | 912 | 0.0578 | 1.00733 | 3 | 0.01561 | 0.02176 | 0.01561 | 0.02176 | 0.159 | 0.08367 | 0.35586 | -5.035 | 0.012709 | null | -4.558806 | 0.000509 | 0.128819 | 0.064316 | 0.000327 | 0.0009 | null | 0.003 | 0.0004 | 0.119 | 0.000072 |
MRPL20 | M64L | Benign | 0.298 | 0.3875 | 0 | 0.003 | 0.000477 | 0.534582 | 1.01 | null | -1.84 | 0.257 | -1.119 | 0.0662 | 0.234547 | 0.013827 | 0.089 | 0.709 | 0.055136 | 0.381928 | 0.042002 | 0.648268 | 0.112763 | -0.17883 | -0.494653 | 0.219729 | 0.712279 | 0.652551 | 0.11107 | 0.112462 | 1 | 0.441713 | 0.52208 | 0.52208 | 0.56214 | 1.151632 | -0.933365 | -0.976561 | -5.63 | 0.991 | 0.272 | 0.355 | 4.9121 | 906 | 0.1656 | 0.96024 | 27 | 0.457093 | 0.243862 | 0.457093 | 0.243862 | null | 0.30867 | 0.24936 | -5.843 | 0.037518 | null | -5.406093 | 0.003605 | 0.056409 | 0.075613 | 0.000258 | 0.0013 | null | 0.096 | 0.001649 | 0.17 | null |
VWA1 | H219R | Benign | 1 | 0.954 | 0.001 | 0.003 | 0.452781 | 0.575766 | -0.55 | 0.48 | -1.91 | 0.083 | -0.9612 | 0.0656 | 0.010874 | 0.022757 | 0.057 | null | 0.238097 | 0.542508 | 0.037754 | 0.518195 | 0.073381 | -0.580848 | -0.686385 | 0.01299 | 0.488651 | 0.419465 | 0.00968 | 0.098717 | 0.999972 | 0.706298 | 0.709663 | 0.570548 | 0.604944 | -0.798507 | -1.741249 | -1.779428 | -4.7 | 0 | 0.852 | 0.005 | 13.3627 | 878 | 0.0596 | 1.00099 | 6 | 0.036286 | 0.060192 | 0.036286 | 0.060192 | 0.006 | 0.02575 | 0.259969 | -0.925 | 0.001974 | null | -0.445548 | 0.002235 | 0.181742 | 0.010582 | 0.000022 | 0.0001 | null | 0.044 | 0.000062 | 0.036 | 0.000074 |
VWA1 | A326P | Benign | 0.316 | 0.112 | 0.001 | 0.001 | 0.54814 | 1 | 0 | 0.06 | -0.16 | 0.016 | -1.0999 | 0.0004 | 0.001552 | null | 0.012 | null | null | 0.287006 | 2.166674 | 0.665686 | 0.060589 | -0.713657 | -0.655617 | 0.00146 | 0.348565 | 0.856445 | 0.00431 | 0.096179 | 0.997252 | 0.695654 | 0.633656 | 0.723109 | 0.604944 | -0.426661 | -1.208017 | -1.235403 | -1.3 | 0 | 0.016 | 0.002 | 2.1151 | 878 | 0.0648 | 0.990295 | 7 | 0.079753 | 0.060188 | 0.079753 | 0.060188 | 0.036 | 0.12318 | 0.315656 | -2.55 | 0.102129 | null | -2.91011 | 0.000368 | 0.113678 | 0.105066 | 0.000124 | 0 | null | 0.034 | 0.000823 | 0.022 | 0.040056 |
VWA1 | V432A | Benign | 0.554 | 1 | 0 | 0 | 0.0682 | 1 | -0.345 | 0.14 | -0.46 | 0.044 | -1.0119 | 0.1023 | 0.105629 | 0.732813 | 0.041 | 0.252 | 0.277317 | 0.29203 | 2.262624 | 0.85589 | 0.123868 | -0.282403 | -0.643429 | 0.044591 | 0.20328 | 0.438513 | 0.0068 | 0.039224 | 0.999605 | 0.646311 | 0.588066 | 0.645312 | 0.562822 | 0.187443 | -1.014955 | -0.956593 | 2.63 | 0 | 0 | 0.007 | 8.1075 | 878 | 0.0635 | 1.0137 | 19 | 0.022 | 0.023128 | 0.022 | 0.023128 | 0.014 | 0.05172 | 0.272953 | -1.751 | 0.030394 | null | -1.522425 | 0.00262 | 0.101395 | 0.228634 | 0.00011 | 0.0001 | null | 0.017 | 0.003163 | 0.031 | null |
ATAD3C | A91V | Benign | 0.006 | 0.016 | 0.973 | 0.605 | 0.00001 | 0.999943 | 2.07 | -3.42 | -3.12 | 0.734 | -0.0201 | 0.4343 | 0.007076 | null | 0.484 | null | 0.869624 | 0.246559 | 0.340278 | 0.665668 | 0.027868 | -0.281788 | -0.123284 | 0.060012 | 0.942906 | 0.992966 | 0.87648 | 0.593457 | 0.000329 | 0.553676 | 0.588015 | 0.576033 | 0.567892 | 2.71155 | -0.362351 | -0.560584 | 1.21 | 1 | 0.999 | 0.001 | 8.7476 | 867 | 0.1087 | 0.955994 | 36 | 0.469908 | 0.302442 | 0.469908 | 0.302442 | null | 0.68277 | 0.418796 | -6.919 | 0.288128 | null | -7.280965 | 0.002708 | 0.456754 | 0.715127 | 0.000579 | 0.011 | null | 0.324 | 0.03598 | 0.044 | 0.005034 |
ATAD3C | I163T | Benign | 1 | 1 | 0 | 0 | 0 | 0.999225 | -3.295 | -1.12 | 5.16 | 0.37 | -0.8558 | 0.0582 | 0.052762 | 0.107127 | 0.242 | 0.495 | 0.325805 | 0.179591 | 0.190945 | 0.678866 | 0.003523 | -0.026175 | -0.275375 | 0.024032 | 0.713829 | 0.409335 | 0.09033 | 0.056358 | 0.00259 | 0.646311 | 0.588015 | 0.645312 | 0.613276 | 1.534357 | -1.464319 | -1.240988 | 2.52 | 1 | 1 | 0.005 | 8.3491 | 862 | 0.0711 | 1.02666 | 3 | 0.046248 | 0.076108 | 0.046248 | 0.076108 | null | 0.40974 | 0.5272 | 5.895 | 0.000362 | null | 3.226806 | 0.000166 | 0.097111 | 0.066099 | 0.000057 | 0.0398 | null | 0.083 | 0.000434 | 0.591 | 0.00002 |
ATAD3B | V222I | Benign | 0.351 | 0.379 | 0.232 | 0.104 | 0.000261 | 0.998956 | 2.325 | -1.9 | -0.4 | 0.162 | -0.5699 | 0.4575 | 0.041905 | 0.031244 | 0.301 | 0.248 | 0.578132 | 0.166208 | 0.733662 | 0.379348 | 0.012061 | -0.399534 | -0.4128 | 0.035892 | 0.732927 | 0.982896 | 0.61868 | 0.081231 | 0.003488 | 0.706548 | 0.702456 | 0.702456 | 0.714379 | 0.881345 | -0.477071 | -0.500899 | -1.45 | 0.996 | 0.021 | 0.019 | 8.751 | 856 | 0.0748 | 0.992474 | 6 | 0.010529 | 0.020078 | 0.010529 | 0.020078 | 0.056 | 0.03596 | 0.235559 | -3.014 | 0.028547 | null | -5.801988 | 0.000445 | 0.371554 | 0.638779 | 0.000174 | 0.0002 | null | 0.046 | 0.001141 | 0.039 | 0.000171 |
ATAD3B | H347N | Benign | 1 | 1 | 0 | 0.002 | 0 | 0.994386 | -2.165 | -3.44 | 3.25 | 0.202 | -0.537 | 0.3539 | 0.213534 | 0.597958 | 0.318 | 0.646 | 0.415055 | 0.40558 | 0.0675 | 0.596615 | 0.016346 | -0.114605 | -0.233271 | 0.032921 | 0.791921 | 0.253729 | 0.1565 | 0.016241 | 0.000889 | 0.706548 | 0.697927 | 0.702456 | 0.714379 | 0.695949 | -1.45684 | -1.333934 | 1.06 | 1 | 1 | 0.001 | 7.6528 | 856 | 0.0695 | 1.01153 | 19 | 0.065686 | 0.061066 | 0.065686 | 0.061066 | 0.102 | 0.19557 | 0.586947 | 1.995 | 0.00074 | null | -0.32945 | 0.003294 | 0.349241 | 0.610416 | 0.000527 | 0.0002 | null | 0.32 | 0.013384 | 0.848 | 0.000004 |
ATAD3B | K545E | Benign | 1 | 1 | 0 | 0 | 0.000008 | 0.999941 | -1.2 | -3.53 | 2.16 | 0.164 | -0.5584 | 0.3438 | 0.073472 | 0.140598 | 0.292 | 0.441 | 0.465295 | 0.148123 | 0.034601 | 0.563459 | 0.005624 | -0.079586 | -0.352096 | 0.012828 | 0.258174 | 0.101541 | 0.09723 | 0.030609 | 0.003793 | 0.706548 | 0.702456 | 0.643519 | 0.714379 | 1.235707 | -1.462 | -1.343255 | 0.236 | 1 | 1 | 0.001 | 5.3852 | 856 | 0.0538 | 1.01074 | 5 | 0.048847 | 0.038786 | 0.048847 | 0.038786 | 0.047 | 0.14763 | 0.265797 | 1.101 | 0.000733 | null | 1.705172 | 0.000275 | 0.084275 | 0.262763 | 0.000049 | 0.0003 | null | 0.093 | 0.000147 | 0.25 | null |
TMEM240 | L140Q | Pathogenic | 0.004 | 0.008 | 0.969 | 0.823 | null | 0.954493 | 0.55 | null | -3.19 | 0.3715 | -0.7745 | 0.159 | 0.494481 | 0.833231 | 0.259 | 0.275 | 0.237489 | 0.699519 | null | 0.873092 | 0.647909 | 0.04147 | -0.178208 | 0.806544 | 0.652235 | 0.98406 | 0.95064 | 0.708426 | 0.999995 | 0.660377 | 0.514364 | 0.696353 | 0.508809 | 3.931505 | 0.289043 | 0.256949 | 2.59 | 0.977 | 1 | 0.972 | 10.5857 | 840 | 0.3023 | 0.824818 | 48 | 0.477334 | 0.486727 | 0.477334 | 0.486727 | 0.17 | 0.60407 | 0.456903 | -3.573 | 0.216719 | 0.458731 | -4.063218 | 0.995337 | 0.055727 | 0.013929 | 0.000485 | 0.0464 | 0.536075 | 0.334 | 0.511737 | 0.315 | null |
TMEM240 | C99F | Benign | 0 | 0 | 0.662 | 0.125 | null | 0.999913 | 0.805 | null | -7.2 | 0.917 | -1.0132 | 0.087 | 0.365111 | 0.049524 | 0.324 | null | 0.214339 | 0.8268 | null | 0.835838 | 0.671913 | -0.099207 | 0.049341 | 0.306053 | 0.789321 | 0.990668 | 0.93232 | 0.795319 | 0.993439 | 0.634777 | 0.550933 | 0.643519 | 0.636168 | 3.20983 | -0.051604 | 0.00319 | 2.4 | 1 | 1 | 0.994 | 10.9956 | 840 | 0.2511 | 0.880975 | 64 | 0.858739 | 0.831954 | 0.858739 | 0.831954 | 0.277 | 0.65287 | 0.488048 | -2.388 | 0.201255 | 0.531092 | -2.498876 | 0.994977 | 0.246213 | 0.088173 | 0.000496 | 0.0117 | 0.338241 | 0.888 | 0.603019 | 0.833 | 0.000045 |
MIB2 | R488H | Benign | 0.003 | 0.001 | null | null | 0.000004 | 0.999998 | null | 1.19 | -4.3 | 0.315 | 0.1598 | 0.5081 | 0.04305 | 0.115846 | 0.371 | null | 0.776053 | null | null | 0.452605 | null | -0.291618 | -0.19845 | 0.148521 | 0.977802 | 0.999462 | 0.98633 | 0.860576 | 1 | 0.634777 | 0.643519 | 0.723109 | 0.699875 | 3.710912 | 0.623443 | 0.534738 | 4.59 | 1 | 1 | 0.548 | 16.3867 | 809 | null | null | 6 | null | null | null | null | null | null | 0.337584 | -12.395 | null | null | -5.721291 | 0.001916 | 0.429508 | 0.286722 | 0.000577 | 0.1824 | null | 0.45 | 0.421316 | 0.593 | 0.000279 |
SLC35E2B | V355I | Benign | null | 0.958 | 0.004 | 0.002 | 0.394847 | 1 | null | null | null | 0.021 | -0.9685 | 0.1006 | 0.055894 | 0.006948 | null | 0.44 | 0.043078 | 0.137646 | null | 0.217456 | 0.007515 | -0.565015 | -0.749057 | 0.021359 | 0.727827 | 0.703102 | 0.06407 | 0.041468 | 0.999889 | 0.67177 | 0.697927 | 0.779548 | 0.711 | -1.308135 | -1.809651 | -1.865641 | -8.74 | 0 | 0 | 0.001 | 21.3145 | 735 | 0.0651 | 0.992505 | 7 | 0.020882 | 0.032183 | 0.020882 | 0.032183 | 0.014 | 0.02839 | 0.146074 | -4.018 | 0.015219 | null | -3.870173 | 0.000663 | 0.119254 | 0.227313 | 0.000015 | 0.0002 | null | 0.123 | 0.000812 | 0.019 | 0.000065 |
SLC35E2B | V56I | Benign | null | 1 | 0.001 | 0.001 | 0.032589 | 0.996151 | 0.075 | null | null | 0.090667 | -0.6536 | 0.419 | 0.01674 | 0.130466 | null | 0.374 | 0.043078 | 0.061088 | null | 0.474063 | 0.007041 | -0.289485 | -0.653601 | 0.00306 | 0.769523 | 0.609834 | 0.24428 | 0.042859 | 0.376043 | 0.732398 | 0.709663 | 0.709663 | 0.727631 | 0.057285 | -1.021878 | -0.975587 | -2.4 | 0.809 | 0.003 | 0.443 | 11.2625 | 707 | 0.0651 | 1.04422 | 7 | 0.013294 | 0.022406 | 0.013294 | 0.022406 | 0.032 | 0.09302 | 0.356481 | -5.731 | 0.03755 | null | -3.202547 | 0.001133 | 0.295402 | 0.535079 | 0.000125 | 0.0033 | null | 0.058 | 0.00073 | 0.027 | 0.000159 |
SLC35E2B | G48S | Benign | null | 0.626 | 0.008 | 0 | 0.987385 | 1 | -0.4 | null | null | 0.057 | -0.6491 | 0.3257 | 0.002363 | null | null | 0.34 | 0.043078 | 0.11092 | null | 0.327492 | 0.007543 | -0.626824 | -0.674322 | 0.013583 | 0.650435 | 0.549311 | 0.04673 | 0.083117 | 0.265079 | 0.732398 | 0.709663 | 0.709663 | 0.727631 | -0.28044 | -1.458232 | -1.415581 | -0.9 | 0 | 0 | 0 | 4.8029 | 707 | 0.0659 | 1.02142 | 4 | 0.018726 | 0.024217 | 0.018726 | 0.024217 | 0.01 | 0.0273 | 0.286906 | -3.098 | 0.043648 | null | -3.224816 | 0.001003 | 0.094729 | 0.076528 | 0.000056 | 0.0028 | null | 0.088 | 0.004238 | 0.038 | 0.000448 |
GNB1 | R304W | Benign | 0 | 0.052 | 1 | 0.975 | 0 | 1 | 3.01 | 4.98 | -6.6 | 0.917 | -1.1383 | 0.0155 | 0.781359 | 0.035333 | 0.339 | 0.504 | 0.799336 | 0.752349 | 3.043661 | 0.946747 | 0.795455 | 0.203571 | 0.054639 | 0.986943 | 0.99565 | 0.998877 | 0.79877 | 0.742926 | 0.990421 | 0.67177 | 0.702456 | 0.779548 | 0.711 | 3.41355 | 0.149842 | 0.073164 | 0.535 | 1 | 0.586 | 0.776 | 14.3498 | 720 | 0.986 | 0.646718 | 23 | 0.908677 | 0.659493 | 0.908677 | 0.659493 | 0.959 | 0.81406 | 0.357119 | -15.118 | 0.553292 | null | -13.225943 | 0.567853 | 0.797893 | 0.682132 | 0.000577 | 0.185 | 0.720888 | 0.681 | 0.831446 | 0.482 | null |
GNB1 | R219Q | Benign | 0.065 | 0.21 | 0.067 | 0.034 | 0.000002 | 1 | 0.395 | 0.25 | -1.16 | 0.563 | -0.9947 | 0.139 | 0.37213 | 0.033059 | 0.122 | null | 0.809935 | 0.384536 | 1.846105 | 0.866531 | 0.210623 | 0.086382 | -0.113695 | 0.692181 | 0.961904 | 0.99844 | 0.99251 | 0.917237 | 1 | 0.67177 | 0.702456 | 0.697927 | 0.741806 | 2.766594 | 0.050155 | 0.255614 | 5.43 | 1 | 1 | 0.779 | 18.2284 | 720 | 0.2592 | 0.902509 | 14 | 0.680045 | 0.382399 | 0.680045 | 0.382399 | 0.935 | 0.14221 | 0.220379 | -7.606 | 0.334394 | null | -9.064545 | 0.267627 | 0.301963 | 0.440864 | 0.000534 | 0.0385 | 0.885556 | 0.281 | 0.570496 | 0.76 | 0.000008 |
GNB1 | M217T | Benign | 0.331 | 0.448 | 0 | 0.001 | 0 | 1 | -0.535 | 0.34 | -0.95 | 0.708 | -1.0457 | 0.0567 | 0.468339 | 0.02442 | 0.317 | 0.239 | 0.907233 | 0.308123 | 1.844637 | 0.901013 | 0.28792 | 0.161151 | -0.006294 | 0.903775 | 0.514549 | 0.931379 | 0.99518 | 0.907995 | 1 | 0.67177 | 0.702456 | 0.697927 | 0.741806 | 2.533852 | -0.206698 | 0.083806 | 5.43 | 1 | 1 | 0.965 | 14.6617 | 720 | 0.1106 | 0.966624 | 3 | 0.506161 | 0.296921 | 0.506161 | 0.296921 | 0.924 | 0.61745 | 0.273208 | -4.293 | 0.106723 | null | -2.838881 | 0.299441 | 0.635139 | 0.602548 | 0.000537 | 0.0014 | 0.572917 | 0.38 | 0.569164 | 0.781 | null |
GNB1 | E172D | Benign | 0.03 | 0.051 | 0.961 | 0.868 | 0 | 1 | 1.23 | 5.02 | -2.06 | 0.6235 | -0.9589 | 0.1325 | 0.306988 | 0.016148 | 0.222 | 0.439 | 0.654053 | 0.456787 | 1.57709 | 0.876911 | 0.481676 | -0.073634 | -0.343547 | 0.849054 | 0.960604 | 0.995696 | 0.94116 | 0.500977 | 0.992228 | 0.67177 | 0.702456 | 0.697927 | 0.711 | 3.084199 | 0.192959 | 0.265306 | 4.08 | 1 | 1 | 0.998 | 3.6809 | 720 | 0.4215 | 0.909478 | 9 | 0.698842 | 0.318607 | 0.698842 | 0.318607 | 0.6 | 0.81257 | 0.18024 | -6.134 | 0.249409 | null | -7.910377 | 0.227274 | 0.389173 | 0.515754 | 0.000429 | 0.0073 | 0.619613 | 0.241 | 0.523937 | 0.35 | null |
GNB1 | V158I | Benign | 0.35 | 0.655 | 0.002 | 0.01 | 0.000017 | 0.999999 | 0.055 | 0.13 | 0.16 | 0.233 | -1.033 | 0.0776 | 0.206257 | 0.007756 | 0.073 | 0.519 | 0.474947 | 0.121659 | 1.380651 | 0.821439 | 0.154811 | -0.246124 | -0.422189 | 0.133145 | 0.864414 | 0.948968 | 0.91233 | 0.485829 | 0.999984 | 0.67177 | 0.702456 | 0.702456 | 0.711 | 2.061848 | -0.242443 | 0.004338 | 4.89 | 0.996 | 1 | 1 | 10.6336 | 725 | 0.0661 | 0.940681 | 5 | 0.11146 | 0.070464 | 0.11146 | 0.070464 | 0.168 | 0.04947 | 0.323645 | -4.001 | 0.102208 | null | -4.654546 | 0.023123 | 0.102784 | 0.272082 | 0.000232 | 0.0025 | 0.243483 | 0.077 | 0.280132 | 0.227 | 0.00002 |
GNB1 | N125S | Benign | 0.534 | 0.669 | 0 | 0.002 | 0.000001 | 0.999521 | 0.36 | 0.32 | -2.305 | 0.31 | -1.0627 | 0.1042 | 0.218568 | 0.018654 | 0.088 | null | 0.529519 | 0.352217 | 1.355478 | 0.829499 | 0.262192 | -0.146101 | -0.432155 | 0.117842 | 0.878412 | 0.890427 | 0.95667 | 0.558237 | 0.935112 | 0.706548 | 0.702456 | 0.724815 | 0.711 | 1.920141 | -0.430929 | -0.22875 | 3.99 | 1 | 1 | 0.999 | 10.7044 | 725 | 0.0457 | 0.926224 | 7 | 0.281485 | 0.192903 | 0.281485 | 0.192903 | 0.586 | 0.32565 | 0.344158 | -7.499 | 0.095233 | null | -3.683627 | 0.034961 | 0.222572 | 0.360137 | 0.000573 | 0.0092 | 0.806603 | 0.557 | 0.426456 | 0.109 | 0.000008 |
GNB1 | G116V | Pathogenic | null | 0.008 | null | null | 0 | 1 | null | null | null | 0.73 | -1.107 | 0.042 | 0.798464 | 0.07082 | null | null | 0.778353 | null | null | 0.86202 | 0.106549 | 0.229878 | 0.092428 | 0.99797 | 0.918808 | 0.99814 | 0.99394 | 0.924069 | 1 | 0.67177 | 0.702456 | 0.697927 | 0.741806 | 3.656478 | 0.98149 | 0.908342 | 5.43 | 1 | 0.999 | 0.982 | 18.2284 | 720 | 0.9998 | 0.705143 | 92 | 0.988066 | 0.96843 | 0.988066 | 0.96843 | 0.787 | 0.9516 | 0.622844 | -17.041 | 0.855111 | null | -17.794674 | 0.602657 | 0.706198 | 0.423746 | 0.000567 | 0.3645 | 0.965285 | 0.827 | 0.856793 | 0.645 | null |
GNB1 | R96C | Pathogenic | 0 | 0.017 | 0.998 | 0.902 | 0.000003 | 1 | 2.675 | 1.803333 | -6.916667 | 0.7375 | -0.0732 | 0.4039 | 0.842215 | 0.16849 | 0.481 | 0.642 | 0.92729 | 0.773574 | 2.247549 | 0.917216 | 0.793022 | 0.333827 | 0.241743 | 0.997335 | 0.947005 | 0.973385 | 0.97368 | 0.842057 | 0.999995 | 0.706548 | 0.702456 | 0.724815 | 0.711 | 4.715448 | 0.723578 | 0.66004 | 4.58 | 1 | 1 | 0.998 | 13.2774 | 725 | 0.989 | 0.762802 | 48 | 0.726967 | 0.718079 | 0.726967 | 0.718079 | 0.773 | 0.92957 | 0.430407 | -15.007 | 0.472455 | null | -12.833109 | 0.851586 | 0.842218 | 0.609572 | 0.000579 | 0.9357 | 0.876231 | 0.992 | 0.750274 | 0.92 | null |
GNB1 | G77C | Pathogenic | 0.004667 | 0 | 1 | 0.999 | 0 | 1 | 1.465 | -0.13 | -7.926667 | 0.899 | -0.1146 | 0.4558 | 0.915247 | 0.078879 | 0.656 | 0.758 | 0.956657 | 0.896641 | 3.105809 | 0.905904 | 0.469349 | 0.350878 | 0.266235 | 0.999044 | 0.982024 | 0.976887 | 0.99264 | 0.947272 | 1 | 0.722319 | 0.698795 | 0.702456 | 0.711 | 4.119774 | 0.864771 | 0.84763 | 5.66 | 1 | 1 | 0.998 | 18.734 | 730 | 0.9998 | 0.718436 | 59 | 0.972087 | 0.912483 | 0.972087 | 0.912483 | 0.957 | 0.89063 | 0.59849 | -12.053 | 0.66022 | null | -14.124137 | 0.905867 | 0.893853 | 0.509343 | 0.00058 | 0.9037 | 0.963208 | 0.992 | 0.873141 | 0.965 | null |
GNB1 | A73T | Pathogenic | 0.001 | 0.017 | 0.992 | 0.976 | 0 | 1 | 1.89 | -0.11 | -3.676667 | 0.875 | -0.0943 | 0.4525 | 0.916355 | 0.065829 | 0.621 | 0.842 | 0.899112 | 0.861278 | 2.839541 | 0.826553 | 0.396474 | 0.313049 | 0.211897 | 0.996512 | 0.967637 | 0.982608 | 0.99082 | 0.932814 | 1 | 0.722319 | 0.698795 | 0.702456 | 0.711 | 4.042562 | 0.868252 | 0.852685 | 5.66 | 1 | 1 | 0.999 | 18.734 | 730 | 0.9963 | 0.861663 | 69 | 0.934153 | 0.891583 | 0.934153 | 0.891583 | 0.909 | 0.83734 | 0.513531 | -11.323 | 0.46832 | null | -11.23504 | 0.874688 | 0.904669 | 0.921454 | 0.000577 | 0.9476 | 0.349965 | 0.994 | 0.809673 | 0.905 | null |
GNB1 | A73S | Pathogenic | 0.181333 | 0.268 | 0.871 | 0.962 | 0 | 1 | 1.235 | 0.04 | -2.756667 | 0.67 | -0.6466 | 0.3279 | 0.74193 | 0.029003 | 0.347 | 0.768 | 0.726923 | 0.776647 | 2.247549 | 0.804217 | 0.378524 | 0.12687 | -0.055537 | 0.933689 | 0.891077 | 0.985005 | 0.99264 | 0.938819 | 1 | 0.722319 | 0.698795 | 0.702456 | 0.711 | 3.108247 | 0.61475 | 0.670301 | 5.66 | 1 | 1 | 0.999 | 18.734 | 730 | 0.8174 | 0.863921 | 59 | 0.726258 | 0.424307 | 0.726258 | 0.424307 | 0.763 | 0.79382 | 0.468581 | -6.193 | 0.324103 | null | -8.490684 | 0.612528 | 0.602246 | 0.773632 | 0.000559 | 0.1547 | 0.352847 | 0.889 | 0.698982 | 0.945 | null |
GNB1 | M61I | Pathogenic | 0.09 | 0.196 | 0.034 | 0.1 | 0 | 1 | -1.16 | 0.53 | -3.49 | 0.854 | -0.9777 | 0.0791 | 0.566669 | 0.014903 | 0.306 | 0.578 | 0.89047 | 0.610333 | 0.952956 | 0.889369 | 0.371136 | 0.239939 | 0.10688 | 0.853552 | 0.983724 | 0.989242 | 0.94955 | 0.907918 | 1 | 0.67177 | 0.702456 | 0.702456 | 0.711 | 2.441525 | -0.035418 | 0.248307 | 5.91 | 1 | 1 | 0.987 | 18.8427 | 730 | 0.9537 | 0.873342 | 15 | 0.747534 | 0.44147 | 0.747534 | 0.44147 | 0.785 | 0.52221 | 0.406595 | -7.47 | 0.264388 | null | -9.086443 | 0.598805 | 0.266092 | 0.895235 | 0.000576 | 0.0273 | 0.481319 | 0.721 | 0.734989 | 0.966 | null |
GNB1 | L55V | Pathogenic | 0.011333 | 0.382 | 0.397 | 0.342 | 0 | 1 | 0.345 | 0.22 | -2.703333 | 0.5845 | -1.0132 | 0.1426 | 0.260847 | 0.041308 | 0.187 | 0.33 | 0.584347 | 0.526291 | 0.872617 | 0.85498 | 0.269488 | -0.049667 | -0.309119 | 0.57552 | 0.967503 | 0.9102 | 0.77779 | 0.338261 | 0.001636 | 0.67177 | 0.702456 | 0.702456 | 0.711 | 1.810245 | -0.56173 | -0.488575 | -0.573 | 0.933 | 0.717 | 0.961 | 11.6319 | 730 | 0.9612 | 0.934958 | 13 | 0.72246 | 0.400049 | 0.72246 | 0.400049 | 0.614 | 0.78258 | 0.247505 | -11.828 | 0.339472 | null | -9.804183 | 0.34312 | 0.365597 | 0.239842 | 0.00055 | 0.2761 | 0.591262 | 0.794 | 0.540785 | 0.417 | null |
GNB1 | A26T | Benign | 0.308333 | 0.692 | 0.026 | 0.011 | 0 | 1 | 2.16 | 5.03 | -1.22 | 0.6895 | -0.9091 | 0.0089 | 0.2386 | 0.019948 | 0.155 | 0.268 | 0.357631 | 0.437756 | 0.763113 | 0.767047 | 0.3986 | -0.247803 | -0.396757 | 0.446174 | 0.943973 | 0.975078 | 0.96561 | 0.722948 | 1 | 0.67177 | 0.702456 | 0.702456 | 0.711 | 2.49885 | 0.024046 | 0.161779 | 4.92 | 1 | 1 | 0.989 | 16.6803 | 730 | 0.1361 | 0.826234 | 15 | 0.465944 | 0.312711 | 0.465944 | 0.312711 | 0.913 | 0.14204 | 0.281477 | -5.85 | 0.166346 | null | -3.929021 | 0.126471 | 0.422487 | 0.355716 | 0.000517 | 0.0003 | 0.609969 | 0.216 | 0.583214 | 0.468 | 0.000012 |
GNB1 | A21S | Benign | 0.193667 | 0.635 | 0.001 | 0.01 | 0 | 1 | 2.55 | 5.01 | -0.663333 | 0.694 | -0.9586 | 0.0108 | 0.399713 | 0.030974 | 0.233 | 0.387 | 0.487287 | 0.441332 | 0.719324 | 0.747665 | 0.265364 | 0.008894 | -0.225001 | 0.629319 | 0.832384 | 0.846609 | 0.99233 | 0.913505 | 1 | 0.67177 | 0.702456 | 0.702456 | 0.711 | 1.99029 | 0.110675 | 0.218744 | 4.92 | 1 | 1 | 0.7 | 16.6803 | 730 | 0.2134 | 0.90669 | 37 | 0.3976 | 0.193777 | 0.3976 | 0.193777 | 0.604 | 0.29758 | 0.333291 | -6.915 | 0.287175 | null | -7.114408 | 0.061191 | 0.173929 | 0.549618 | 0.00056 | 0.0024 | 0.475044 | 0.18 | 0.684402 | 0.904 | null |
CFAP74 | R513C | Benign | null | 0.087 | 0.003 | 0.001 | 0.927548 | 0.630849 | null | null | null | 0.321 | -1.0575 | 0.12 | 0.041064 | null | null | 0.496 | 0.061188 | 0.213809 | null | 0.264633 | 0.021881 | -0.430221 | -0.53575 | 0.039435 | 0.80282 | 0.982122 | 0.00862 | 0.035251 | 0.00093 | 0.497415 | 0.59043 | 0.578056 | 0.542086 | 1.034628 | -0.99235 | -1.037256 | -2.13 | 0.002 | 0 | 0.591 | 9.6237 | 917 | 0.0794 | 0.901969 | 7 | 0.104506 | 0.065064 | 0.104506 | 0.065064 | null | 0.24069 | 0.616768 | -1.578 | 0.059704 | null | null | 0.000865 | 0.409259 | 0.055123 | null | 0.0005 | null | 0.101 | null | 0.061 | 0.000028 |
CFAP74 | R109Q | Benign | null | 0.587 | 0.001 | 0.001 | 0.021783 | 1 | null | null | null | 0.112 | -0.9975 | 0.0212 | 0.031778 | null | null | null | 0.013882 | 0.037669 | null | 0.39681 | 0.005293 | -0.5042 | -0.629961 | 0.017891 | 0.407759 | 0.936707 | 0.01886 | null | 0.993175 | 0.403107 | 0.547309 | 0.578056 | 0.613276 | 0.952245 | -1.540121 | -1.470831 | 0.976 | 0.039 | 0 | 0.005 | 4.2042 | 934 | 0.0647 | 0.992907 | 6 | 0.020449 | 0.031813 | 0.020449 | 0.031813 | null | 0.14348 | 0.33907 | -4.171 | 0.038505 | null | null | 0.000731 | null | 0.032798 | null | 0.0011 | null | 0.023 | null | 0.065 | 0.000108 |
GABRD | T124A | Benign | 0.004 | 0.01 | 0.997 | 0.992 | 0 | 1 | 2.775 | -1.35 | -4.23 | 0.887 | 0.5306 | 0.6902 | 0.860699 | 0.153441 | 0.896 | 0.584 | 0.856042 | 0.659413 | 1.810495 | 0.751438 | 0.762625 | 0.293987 | 0.184515 | 0.99158 | 0.928107 | 0.997316 | 0.95966 | 0.878125 | 1 | 0.646311 | 0.547309 | 0.645312 | 0.562822 | 3.542078 | 0.799052 | 0.714829 | 4.54 | 1 | 1 | 0.798 | 13.517 | 940 | 0.7858 | 0.86051 | 63 | 0.672434 | 0.580505 | 0.672434 | 0.580505 | 0.921 | 0.68823 | 0.511069 | -10.45 | 0.477221 | null | -10.470973 | 0.970124 | 0.93594 | 0.072032 | 0.000556 | 0.2941 | null | 0.441 | 0.72075 | 0.754 | null |
GABRD | A212V | Pathogenic | null | null | null | null | null | 0.977209 | null | null | null | null | null | null | 0.156825 | 0.049716 | null | null | null | null | null | null | null | -0.092125 | -0.370107 | 0.514208 | 0.257674 | 0.992794 | 0.78012 | 0.336734 | 0.175161 | 0.646311 | 0.547309 | 0.645312 | 0.562822 | 2.835528 | -0.284556 | -0.129977 | 3.58 | 1 | 1 | 0.945 | 6.7365 | 934 | 0.4726 | 0.915695 | 25 | 0.46643 | 0.551566 | 0.46643 | 0.551566 | 0.845 | 0.36069 | 0.475307 | -8.923 | 0.3228 | null | -8.318063 | 0.757805 | 0.140025 | 0.812249 | 0.000497 | 0.0194 | null | 0.229 | 0.598664 | 0.688 | null |
GABRD | L260V | Pathogenic | 0.001 | 0.002 | 0.999 | 0.994 | 0.000001 | 0.999991 | 2.51 | -2.82 | -2.62 | 0.809 | 0.7409 | 0.8075 | 0.895791 | 0.363783 | 0.789 | 0.693 | 0.872938 | 0.907739 | 1.832362 | 0.74092 | 0.797886 | 0.290272 | 0.179179 | 0.982385 | 0.944139 | 0.998348 | 0.91215 | 0.576986 | 0.986859 | 0.646311 | 0.547309 | 0.645312 | 0.562822 | 3.146233 | 0.596735 | 0.525304 | 4.23 | 1 | 1 | 0.367 | 11.8153 | 934 | 0.7157 | 0.863197 | 57 | 0.555446 | 0.466661 | 0.555446 | 0.466661 | 0.909 | 0.75997 | 0.491302 | -9.72 | 0.396148 | null | -9.835275 | 0.964364 | 0.938361 | 0.948116 | 0.000512 | 0.0201 | null | 0.242 | 0.522364 | 0.428 | null |
GABRD | G410V | Benign | null | null | null | null | null | 0.999999 | null | null | null | null | null | null | 0.131378 | null | null | null | null | null | null | null | null | null | null | null | 0.361264 | 0.515722 | 0.09818 | null | 0.154516 | 0.056701 | 0.060609 | 0.074216 | 0.079188 | 0.313012 | null | null | 1.45 | 0 | 0.001 | 0.009 | 8.3476 | 934 | 0.0901 | 0.897571 | 10 | 0.047324 | 0.050797 | 0.047324 | 0.050797 | 0.481 | 0.11752 | 0.4107 | -5.123 | 0.191272 | null | -5.088429 | 0.560917 | 0.299287 | 0.08006 | 0.00008 | 0.0021 | null | 0.24 | 0.162164 | 0.512 | null |
MORN1 | G467D | Benign | 0.679 | 0.914 | 0 | 0 | 0.000358 | 1 | 0.095 | 0.99 | 0.16 | 0.053 | -1.0786 | 0.0347 | 0.040004 | 0.001368 | 0.047 | null | 0.061188 | 0.09098 | 0.025588 | 0.32979 | 0.007377 | -0.324533 | -0.703946 | 0.019352 | 0.290171 | 0.279058 | 0.01518 | 0.048962 | 0.999994 | 0.646311 | 0.588015 | 0.645312 | 0.562822 | -0.124055 | -1.884211 | -1.927847 | -4.75 | 0 | 0 | 0 | 0.8256 | 940 | 0.0823 | 0.976954 | 3 | null | null | null | null | 0.009 | 0.10534 | 0.357623 | -5.259 | 0.019135 | null | -4.987911 | 0.000071 | 0.04398 | 0.002858 | 0.000005 | 0.0004 | null | 0.014 | 0.000761 | 0.205 | 0.000022 |
MORN1 | R440H | Benign | 0.479 | 0.369 | 0.001 | 0 | 0.123123 | 1 | 0.55 | 0.96 | -0.06 | 0.033 | -1.0254 | 0.0656 | 0.00423 | 0.007343 | 0.015 | null | 0.167679 | 0.193745 | 0.025199 | 0.404077 | 0.016244 | -0.61406 | -0.768112 | 0.014382 | 0.455554 | 0.873517 | 0.00626 | 0.036777 | 0.999987 | 0.646311 | 0.588015 | 0.645312 | 0.562822 | -0.796978 | -1.58962 | -1.6857 | -5.17 | 0 | 0 | 0 | 10.8572 | 940 | 0.0648 | 1.00182 | 5 | null | null | null | null | 0.002 | 0.06274 | 0.528999 | -5.896 | 0.014881 | null | -4.396871 | 0.000063 | 0.132862 | 0.062622 | 0.000009 | 0.0004 | null | 0.031 | 0.000905 | 0.014 | 0.000182 |
MORN1 | V100I | Benign | 0.4335 | 0.533 | 0.1585 | 0.0445 | 0.623637 | 1 | 1.215 | 0.94 | -0.4 | 0.1345 | -1.0407 | 0.0946 | 0.028613 | 0.012184 | 0.047 | null | 0.148003 | 0.123258 | 0.02895 | 0.308289 | 0.021556 | -0.540473 | -0.708152 | 0.015919 | 0.632437 | 0.860923 | 0.03384 | 0.021859 | 0.999955 | 0.6512 | 0.685571 | 0.723109 | 0.683762 | -0.550192 | -1.094501 | -1.136921 | -3.98 | 0.003 | 0 | 0.14 | 12.0707 | 952 | 0.0803 | 1.03351 | 10 | null | null | null | null | 0.044 | 0.0204 | 0.193485 | -6.214 | 0.066756 | null | -4.553386 | 0.000074 | 0.025042 | 0.227313 | 0.000089 | 0.0004 | null | 0.026 | 0.006411 | 0.003 | 0.000064 |
PEX10 | C276S | Pathogenic | 0 | 0 | 1 | 0.999 | 0 | 1 | 4.42 | -8.65 | -9.13 | 0.8295 | 0.931 | 0.9986 | 0.966992 | 0.869769 | 0.944 | 0.805 | 0.984812 | null | null | 0.780308 | 0.748546 | 0.562435 | 0.570122 | 0.999959 | 0.948305 | 0.995905 | 0.91798 | 0.893541 | 1 | 0.722319 | 0.643519 | 0.702456 | 0.735409 | 4.023995 | 0.965442 | 0.830621 | 5.02 | 1 | 1 | 0.92 | 13.8991 | 923 | 0.9789 | 0.812701 | 94 | 0.991026 | 0.97129 | 0.991026 | 0.97129 | null | 0.90019 | 0.82708 | -10.859 | 0.75353 | 0.969799 | -10.364557 | 0.99948 | 0.746033 | 0.96773 | 0.000586 | 0.7436 | 0.908691 | 0.8 | 0.357504 | 0.957 | null |
PEX10 | M1L | Pathogenic | null | 0.327 | null | null | 0.452042 | 0.99998 | null | null | null | null | -0.9271 | 0.0675 | 0.070268 | 0.021736 | null | null | 0.172588 | null | null | 0.432913 | 0.059604 | -0.194284 | -0.516852 | 0.053445 | 0.9 | 0.477283 | 0.2369 | 0.21021 | 0.999729 | 0.67177 | 0.702456 | 0.697927 | 0.636168 | 0.497548 | -1.733363 | -1.684578 | -5.43 | 0.005 | 0.499 | 0.174 | 2.1257 | 889 | 0.1969 | 0.898898 | 10 | 0.958454 | 0.880788 | 0.958454 | 0.880787 | 1 | 0.86254 | 0.432495 | -7.881 | 0.229479 | null | -6.816251 | 0.776903 | 0.065487 | 0.080676 | 0.00001 | 0.001 | null | 0.05 | 0.000848 | 0.104 | null |
MMEL1 | Y653H | Benign | 0.178 | 0.149 | 0.001 | 0.039 | 0.082255 | 0.622951 | 0.57 | -1.53 | -0.13 | 0.251 | -0.7227 | 0.2971 | 0.255177 | 0.039234 | 0.166 | 0.531 | 0.293147 | 0.404476 | 0.227004 | 0.305117 | 0.245352 | -0.149021 | -0.388189 | 0.041994 | 0.833717 | 0.955761 | 0.31173 | 0.153151 | 0.999996 | 0.495158 | 0.547309 | 0.576033 | 0.75052 | 2.009433 | -0.573245 | -0.501119 | -0.295 | 0.851 | 0.002 | 0.965 | 9.3972 | 835 | 0.0535 | 0.95162 | 10 | 0.043122 | 0.059524 | 0.043122 | 0.059524 | 0.062 | 0.06405 | 0.160588 | -3.654 | 0.045988 | null | -2.537332 | 0.000432 | 0.056109 | 0.201104 | 0.000093 | 0.0014 | null | 0.033 | 0.010086 | 0.079 | 0.000008 |
MMEL1 | R521H | Benign | 0.427 | 0.293 | 0.007 | 0.004 | 0.003841 | 0.985602 | -0.29 | -1.6 | -0.78 | 0.061 | -0.8938 | 0.2191 | 0.069278 | 0.126021 | 0.204 | null | 0.487844 | 0.222634 | 0.212414 | 0.211703 | 0.189081 | -0.383461 | -0.492399 | 0.020165 | 0.854015 | 0.978073 | 0.16201 | 0.122367 | 0.973486 | 0.516011 | 0.610034 | 0.576033 | 0.613276 | 1.415465 | -0.904161 | -0.761072 | 1.33 | 1 | 0.015 | 0.013 | 8.4385 | 835 | 0.0618 | 0.981461 | 10 | 0.030316 | 0.037001 | 0.030316 | 0.037001 | 0.051 | 0.1632 | 0.230203 | -4.568 | 0.037084 | null | -5.152601 | 0.000306 | 0.189553 | 0.123475 | 0.000077 | 0.0052 | null | 0.017 | 0.000405 | 0.101 | 0.000088 |
TPRG1L | A38T | Benign | 0.3605 | 0.327 | 0 | 0.0005 | 0.226164 | 1 | 0.345 | null | -0.72 | 0.0375 | -1.0216 | 0.0384 | 0.048003 | 0.212888 | 0.002 | 0.198 | 0.029774 | 0.360989 | 0.259453 | 0.834897 | 0.034302 | -0.356815 | -0.750317 | 0.063338 | 0.357414 | 0.923882 | 0.07599 | 0.029074 | 1 | 0.65757 | 0.484254 | 0.619478 | 0.581474 | 0.003137 | -1.902711 | -1.924127 | -1.43 | 0 | 0.082 | 0.068 | 3.0994 | 957 | 0.0805 | 0.977716 | 8 | 0.038598 | 0.047917 | 0.038598 | 0.047917 | 0.031 | 0.07206 | 0.281824 | -4.786 | 0.020576 | null | -4.645 | 0.002479 | 0.036311 | 0.069817 | 0.000001 | 0.0001 | null | 0.043 | 0.000111 | 0.203 | null |
TPRG1L | N138S | Benign | 0.662 | 0.476 | 0.001 | 0.005 | 0.000048 | 0.990036 | 0.87 | null | -1.75 | 0.175 | -1.0242 | 0.1321 | 0.050067 | 0.00327 | 0.109 | 0.444 | 0.119812 | 0.289977 | 0.214417 | 0.293985 | 0.058983 | -0.314306 | -0.689255 | 0.053636 | 0.727827 | 0.519117 | 0.35591 | 0.17838 | 1 | 0.789315 | 0.851219 | 0.768056 | 0.56214 | 0.634442 | -0.821265 | -0.819756 | 1.2 | 0.01 | 0 | 0.983 | 8.7087 | 957 | 0.0543 | 0.978467 | 4 | 0.074109 | 0.045257 | 0.074109 | 0.045257 | 0.131 | 0.02825 | 0.22793 | -2.218 | 0.044314 | null | -2.780862 | 0.002991 | 0.067809 | 0.143677 | 0.000158 | 0.0029 | null | 0.057 | 0.005501 | 0.029 | null |
WRAP73 | G450S | Benign | 0.26 | 0.109 | 0 | 0 | 0.021912 | 1 | 0.715 | 0.8 | -0.05 | 0.089 | -0.8088 | 0.0685 | 0.020501 | 0.006 | 0.072 | null | 0.029774 | 0.32024 | 0.197728 | 0.225687 | 0.009283 | -0.572671 | -0.706345 | 0.057128 | 0.441756 | 0.663686 | 0.00619 | 0.027044 | 1 | 0.722319 | 0.702456 | 0.698795 | 0.711 | -1.202098 | -2.285868 | -2.412254 | -10.3 | 0 | 0 | 0.001 | 12.17 | 957 | 0.0753 | 0.983243 | 52 | 0.084547 | 0.046775 | 0.084547 | 0.046775 | 0.022 | 0.04335 | 0.315135 | -3.633 | 0.01024 | null | -3.114043 | 0.001153 | 0.065248 | 0.02304 | 0.000001 | 0 | null | 0.017 | 0.000004 | 0.111 | 0.000048 |
TP73 | A2S | Benign | 1 | 1 | 0.004 | 0.0075 | 0.217021 | 0.999869 | 0 | -5.507143 | 0.4125 | 0.124 | 0.1304 | 0.8691 | 0.050865 | 0.271747 | 0.432 | 0.08 | 0.394843 | 0.311442 | 0.108846 | 0.398911 | 0.222235 | 0.010838 | -0.222208 | 0.003735 | 0.360864 | 0.239427 | 0.22511 | 0.070782 | 0.999996 | 0.67177 | 0.702456 | 0.645312 | 0.613276 | 0.982032 | -0.686125 | -0.49488 | 3.59 | 1 | 1 | 0.643 | 8.8513 | 923 | 0.0572 | 0.997512 | 7 | 0.03896 | 0.043331 | 0.03896 | 0.043331 | 0.457 | 0.26573 | 0.328401 | -3.603 | 0.02847 | null | -2.395741 | 0.647284 | 0.541005 | 0.590029 | 0.000156 | 0.004 | null | 0.021 | 0.030916 | 0.282 | null |
CCDC27 | V183L | Benign | 0.106 | 0.169 | 0.001 | 0.003 | 0.641981 | 1 | 1.095 | 2.15 | -0.64 | 0.168 | -0.9683 | 0.038 | 0.055138 | 0.003391 | 0.015 | 0.224 | 0.055136 | 0.033175 | 0.123816 | 0.305929 | 0.005559 | -0.461041 | -0.743664 | 0.025148 | 0.381662 | 0.450445 | 0.0215 | 0.033315 | 0.260696 | 0.554377 | 0.563428 | 0.602189 | 0.542086 | -0.501826 | -1.40303 | -1.438353 | 0.213 | 0 | 0 | 0.001 | 12.98 | 792 | 0.1197 | 1.01793 | 25 | 0.057244 | 0.062349 | 0.057244 | 0.062349 | 0.004 | 0.07124 | 0.300971 | -1.765 | 0.013423 | null | -2.192951 | 0.000333 | 0.020858 | 0.049802 | 0.000004 | 0.0002 | null | 0.071 | 0.000516 | 0.061 | 0.000024 |
CCDC27 | M227T | Benign | 0.311 | 0.139 | 0 | 0 | 0.262392 | 1 | 0.14 | 2.13 | -1.38 | 0.113 | -1.0028 | 0.0244 | 0.046594 | 0.007278 | 0.015 | 0.282 | 0.155561 | 0.093744 | 0.14558 | 0.364276 | 0.00346 | -0.384923 | -0.790692 | 0.072687 | 0.181682 | 0.219027 | 0.02015 | 0.026389 | 0.995463 | 0.554377 | 0.59043 | 0.602189 | 0.542086 | -0.556557 | -1.689786 | -1.659883 | 0.0868 | 0 | 0 | 0.03 | 7.0342 | 792 | 0.1487 | 1.00669 | 26 | 0.046428 | 0.072515 | 0.046428 | 0.072515 | 0.005 | 0.18177 | 0.437081 | -2.146 | 0.015513 | null | -2.31982 | 0.000342 | 0.025553 | 0.02821 | 0.000003 | 0.0001 | null | 0.031 | 0.000719 | 0.025 | 0.000004 |
CCDC27 | A400S | Benign | 1 | 1 | 0 | 0 | 0.053252 | 1 | 0.805 | 2.15 | 0 | 0.05 | -1.0361 | 0.017 | 0.032174 | 0.004015 | 0.015 | 0.172 | 0.055136 | 0.066874 | 0.123378 | 0.247464 | 0.001688 | -0.388108 | -0.795267 | 0.043605 | 0.335566 | 0.574459 | 0.01215 | 0.020244 | 1 | 0.497415 | 0.59043 | 0.578056 | 0.542086 | -1.486211 | -2.193652 | -2.287728 | -7.76 | 0 | 0 | 0 | 1.172 | 803 | 0.0899 | 1.00759 | 13 | 0.033271 | 0.037774 | 0.033271 | 0.037774 | 0.017 | 0.06135 | 0.302567 | -2.603 | 0.033669 | null | -2.433234 | 0.000226 | 0.018384 | 0.276672 | 0.000002 | 0 | null | 0.026 | 0.00003 | 0.021 | 0.000004 |
CEP104 | S919G | Benign | 0.609 | 0.659 | 0 | 0.003 | 0.38536 | 1 | 1.04 | 1.36 | -0.13 | 0.037 | -0.9843 | 0.0324 | 0.004994 | 0.004387 | 0.028 | 0.156 | 0.029774 | 0.119811 | 0.154883 | 0.281318 | 0.003129 | -0.626656 | -0.678472 | 0.009237 | 0.514049 | 0.694665 | 0.0423 | 0.035244 | 0.947657 | 0.706548 | 0.724815 | 0.80507 | 0.714379 | 0.293754 | -1.475257 | -1.483711 | -4.98 | 0.419 | 0 | 0.059 | 6.7278 | 946 | 0.053 | 0.994846 | 6 | 0.01963 | 0.030639 | 0.01963 | 0.030639 | 0.021 | 0.04734 | 0.346786 | -4.085 | 0.026255 | null | -3.713777 | 0.00014 | 0.015793 | 0.058117 | 0.00004 | 0.0001 | null | 0.006 | 0.000634 | 0.032 | 0.000333 |
CEP104 | G855E | Benign | 0.007 | 0.004 | 0.973 | 0.758 | 0.000114 | 1 | 2.965 | 1.43 | -4.37 | 0.764 | -0.8968 | 0.122 | 0.009677 | 0.021264 | 0.184 | null | 0.875962 | 0.6416 | 0.790194 | 0.729613 | 0.149475 | -0.187894 | -0.038388 | 0.187153 | 0.928407 | 0.996182 | 0.99441 | 0.846446 | 1 | 0.706548 | 0.724815 | 0.723109 | 0.714379 | 3.703401 | 0.676357 | 0.649187 | 5.28 | 1 | 1 | 0.674 | 18.2596 | 964 | 0.7003 | 0.757592 | 14 | 0.437377 | 0.430769 | 0.433512 | 0.420102 | 0.413 | 0.64109 | 0.454074 | -9.176 | 0.681087 | null | -10.858996 | 0.006395 | 0.054367 | 0.076755 | 0.000545 | 0.046 | null | 0.173 | 0.157699 | 0.091 | 0.000537 |
CEP104 | P745L | Benign | 0.192 | 0.171 | 0.901 | 0.182 | 0.002788 | 0.999991 | 2.43 | 0.89 | -1.46 | 0.249 | -0.5074 | 0.3188 | 0.008879 | 0.01471 | 0.083 | null | 0.492885 | 0.303186 | 0.176634 | 0.456906 | 0.013758 | -0.421719 | -0.484966 | 0.056576 | 0.663034 | 0.985132 | 0.14215 | 0.034596 | 0.999056 | 0.706298 | 0.653731 | 0.709663 | 0.714379 | 0.979771 | -0.205485 | -0.325896 | 4.52 | 0.032 | 0.998 | 0.002 | 12.6391 | 970 | 0.0907 | 0.909677 | 15 | 0.034449 | 0.037627 | 0.032301 | 0.043399 | 0.154 | 0.10648 | 0.416771 | -5.081 | 0.094233 | null | -4.86032 | 0.000804 | 0.190603 | 0.081421 | 0.000163 | 0.0001 | null | 0.038 | 0.043087 | 0.136 | 0.000394 |
CEP104 | T438N | Benign | 0.437 | 0.489 | 0.178 | 0.124 | 0.040973 | 1 | 1.735 | 2.23 | -0.12 | 0.052 | -1.0472 | 0.0246 | 0.004373 | null | 0.086 | null | null | 0.191455 | 0.198902 | 0.400546 | 0.005856 | -0.246759 | -0.592228 | 0.00929 | 0.752425 | 0.893692 | 0.37697 | 0.235141 | 0.1862 | 0.706298 | 0.708844 | 0.709663 | 0.714379 | 1.033576 | -0.737257 | -0.70885 | 3.73 | 0.124 | 0.332 | 0.315 | 15.1369 | 982 | 0.0775 | 0.913321 | 12 | 0.073688 | 0.067921 | 0.073688 | 0.067921 | 0.093 | 0.20576 | 0.256968 | -4.456 | 0.241939 | null | -4.955494 | 0.000056 | 0.115088 | 0.098197 | 0.000149 | 0.0001 | null | 0.047 | 0.036173 | 0.067 | 0.034832 |
NPHP4 | P1049S | Benign | 0.008 | 0.02 | 1 | 0.998 | 0.000282 | 0.998975 | 2.505 | -0.71 | -5.73 | 0.752 | 0.0054 | 0.4897 | 0.310187 | 0.153995 | 0.563 | 0.514 | 0.874051 | 0.737547 | 0.394859 | 0.464624 | 0.582037 | -0.248544 | -0.143023 | 0.312443 | 0.851815 | 0.99874 | 0.98894 | 0.863396 | 0.999999 | 0.695654 | 0.653731 | 0.723109 | 0.635551 | 3.881642 | 0.460541 | 0.388271 | 4.47 | 1 | 1 | 0.511 | 13.2022 | 952 | 0.3679 | 0.865104 | 32 | 0.300306 | 0.328186 | 0.300306 | 0.328186 | 0.767 | 0.50856 | 0.450915 | -5.294 | 0.304438 | 0.811053 | null | 0.991993 | 0.502167 | 0.678617 | 0.000564 | 0.0054 | 0.23803 | 0.544 | 0.110117 | 0.393 | 0.000218 |
NPHP4 | R906H | Benign | 0.264 | 0.152 | 0.01 | 0.003 | 0.453953 | 1 | 0.995 | -2.32 | -1 | 0.634 | -0.6943 | 0.4007 | 0.061623 | 0.023889 | 0.137 | null | 0.868499 | 0.194192 | 0.077263 | 0.289852 | 0.159645 | -0.505421 | -0.505563 | 0.007198 | 0.354665 | 0.954282 | 0.02473 | 0.041223 | 0.320933 | 0.646311 | 0.653731 | 0.645312 | 0.567892 | 0.143358 | -1.023576 | -1.078421 | -0.783 | 0 | 0 | 0 | 10.0306 | 952 | 0.0791 | 1.01278 | 13 | 0.031016 | 0.024619 | 0.031016 | 0.024619 | 0.088 | 0.05462 | 0.325089 | -2.529 | 0.095748 | 0.18634 | null | 0.923764 | 0.404411 | 0.406983 | 0.000094 | 0.0001 | 0.038934 | 0.019 | 0.001272 | 0.041 | 0.00016 |
NPHP4 | A764T | Pathogenic | 0.011 | 0.008 | 0.982 | 0.79 | 0.001737 | 0.960511 | 2.485 | -2.42 | -2.72 | 0.442 | 0.6965 | 0.7639 | 0.460778 | 0.049742 | 0.401 | 0.312 | 0.939626 | 0.53059 | 0.342185 | 0.387704 | 0.251164 | 0.085393 | -0.115115 | 0.969418 | 0.878012 | 0.999005 | 0.94456 | 0.477676 | 1 | 0.615465 | 0.588066 | 0.608524 | 0.655142 | 2.909518 | 0.404226 | 0.318686 | 5.61 | 0.985 | 0.999 | 0.005 | 18.6123 | 946 | 0.1118 | 0.952597 | 24 | 0.212838 | 0.196121 | 0.212838 | 0.196121 | 0.452 | 0.60525 | 0.319251 | -9.886 | 0.284216 | 0.604429 | null | 0.910171 | 0.036724 | 0.375359 | 0.000128 | 0.0001 | 0.047374 | 0.003 | 0.008856 | 0.042 | null |
NPHP4 | D709G | Pathogenic | 0.133 | 0.135 | 0.999 | 0.974 | 0.000088 | 0.99839 | 2.375 | -2.29 | -4.73 | 0.314 | 0.2519 | 0.6802 | 0.481538 | 0.065147 | 0.552 | 0.411 | 0.905116 | 0.567006 | 0.164389 | 0.425008 | 0.434008 | 0.184717 | 0.027557 | 0.961655 | 0.624238 | 0.991608 | 0.92728 | 0.48124 | 0.99991 | 0.706298 | 0.653731 | 0.709663 | 0.635551 | 3.111486 | 0.149998 | 0.011397 | 3.97 | 1 | 0.995 | 0.01 | 10.0639 | 934 | 0.0806 | 0.973452 | 16 | 0.366008 | 0.266279 | 0.366008 | 0.266279 | 0.209 | 0.69407 | 0.354428 | -11.327 | 0.114342 | 0.40386 | null | 0.960449 | 0.232747 | 0.577504 | 0.00042 | 0.007 | 0.029238 | 0.261 | 0.032399 | 0.18 | null |
NPHP4 | P41L | Benign | 0.245 | 0.5485 | 0.083 | 0.017 | 0.029701 | 0.999964 | 0.795 | -2.16 | -0.91 | 0.223 | -0.8219 | 0.3053 | 0.011356 | 0.018732 | 0.187 | null | 0.747532 | 0.287207 | 0.066498 | 0.371373 | 0.111075 | -0.357102 | -0.292992 | 0.008829 | 0.754824 | 0.860047 | 0.11963 | 0.034929 | 0.999259 | 0.6512 | 0.708844 | 0.658983 | 0.655142 | 1.327753 | -0.911544 | -0.793706 | 2.47 | 0.292 | 1 | 0.008 | 5.7919 | 768 | 0.0984 | 1.00806 | 6 | 0.026711 | 0.026787 | 0.026164 | 0.033855 | 0.299 | 0.20864 | 0.593872 | -4.583 | 0.075683 | 0.403268 | null | 0.983903 | 0.37951 | 0.169558 | 0.000098 | 0.0002 | 0.025712 | 0.017 | 0.009339 | 0.161 | 0.00039 |
KCNAB2 | N326S | Benign | 0.898 | 0.83075 | 0.006 | 0.006 | 0.000006 | 0.999058 | -0.755 | 1.99 | -0.97 | 0.109 | -1.0297 | 0.024 | 0.062194 | 0.008504 | 0.068 | null | 0.324009 | null | null | 0.36134 | 0.124708 | -0.315967 | -0.691641 | 0.023394 | 0.887611 | 0.776737 | 0.54901 | 0.229482 | 0.980853 | 0.67177 | 0.702456 | 0.723109 | 0.699875 | 0.943361 | -0.617702 | -0.477948 | 3.07 | 0.623 | 1 | 0.557 | 6.5763 | 861 | 0.0542 | 0.966674 | 19 | 0.161834 | 0.063937 | 0.161834 | 0.063937 | null | 0.40374 | 0.368149 | -7.818 | 0.056092 | null | -6.214028 | 0.008172 | 0.118135 | 0.119305 | 0.000274 | 0.009 | null | 0.059 | 0.023792 | 0.111 | 0.000006 |
CHD5 | R1427Q | Pathogenic | 0.004 | 0.028 | 0.998 | 0.988 | 0.000001 | 0.999997 | 2.905 | -2.96 | -3.49 | 0.874 | 0.9387 | 0.8661 | 0.899732 | 0.402423 | 0.604 | 0.531 | 0.922638 | 0.949406 | 2.578278 | 0.805082 | 0.330121 | 0.294653 | 0.185472 | 0.991629 | 0.996446 | 0.999205 | 0.98112 | 0.901978 | 1 | 0.554377 | 0.588066 | 0.576033 | 0.613276 | 4.105189 | 0.521523 | 0.376607 | 4.5 | 1 | 1 | 0.565 | 17.5764 | 875 | 0.8393 | 0.854838 | 32 | 0.520655 | 0.359708 | 0.520654 | 0.359708 | 0.729 | 0.89453 | 0.455772 | -13.748 | 0.181535 | null | null | 0.531557 | 0.988682 | 0.858856 | 0.000544 | 0.3656 | 0.482826 | 0.559 | 0.704806 | 0.883 | null |
CHD5 | R931Q | Pathogenic | 0 | 0 | 0.998 | 0.992 | 0.000001 | 1 | 4.5 | -9.38 | -3.84 | 0.946 | 1.0087 | 0.9992 | 0.987591 | 0.844554 | 0.953 | 0.893 | 0.9814 | 0.981542 | 2.584268 | 0.895193 | 0.896034 | 0.561484 | 0.568757 | 0.999884 | 0.998337 | 0.99959 | 0.9715 | 0.93614 | 1 | 0.615465 | 0.610034 | 0.658983 | 0.567892 | 4.261637 | 1.031762 | 0.902476 | 4.8 | 1 | 1 | 0.997 | 18.2357 | 882 | 0.9842 | 0.854838 | 75 | 0.81754 | 0.70433 | 0.81754 | 0.70433 | 0.692 | 0.93641 | 0.769359 | -16.274 | 0.726288 | null | null | 0.646703 | 0.987772 | 0.996381 | 0.00058 | 0.3912 | 0.930469 | 0.899 | 0.830406 | 0.869 | null |
RNF207 | A379V | Benign | 0.377 | 0.546 | 0 | 0 | 0.967721 | 0.997054 | -1.405 | 2.3 | -0.22 | 0.023 | -0.9953 | 0.0111 | 0.015604 | 0.006716 | 0.052 | 0.144 | 0.071687 | 0.280488 | 0.167867 | 0.428058 | 0.00138 | -0.500089 | -0.767027 | 0.064972 | 0.372463 | 0.948716 | 0.24354 | 0.020178 | 0.932132 | 0.700653 | 0.577304 | 0.717052 | 0.567892 | 0.887041 | -1.019233 | -0.804865 | 0.268 | 0.899 | 0.948 | 0.675 | 7.2435 | 840 | 0.0601 | 0.956413 | 5 | 0.026473 | 0.037496 | 0.026473 | 0.037496 | 0.011 | 0.04 | 0.285298 | -3.852 | 0.002603 | null | -4.245803 | 0.000152 | 0.06489 | 0.041673 | 0.000043 | 0.0002 | null | 0.013 | 0.001223 | 0.024 | 0.000047 |
GPR153 | R311W | Benign | 1 | 1 | 0 | 0 | 0.000006 | 0.515674 | -1.04 | 2.36 | 3.9 | 0.301 | -0.9985 | 0.013 | 0.029887 | 0.005813 | 0.086 | null | 0.317084 | 0.7132 | 0.316467 | 0.341497 | 0.009073 | -0.462029 | -0.590931 | 0.065532 | 0.782222 | 0.253898 | 0.16161 | 0.1406 | 1 | 0.660377 | 0.694456 | 0.493711 | 0.59522 | 1.893454 | -0.672417 | -0.38078 | 4.28 | 1 | 1 | 0.943 | 10.1756 | 862 | 0.0586 | 1.00298 | 5 | 0.099529 | 0.059507 | 0.099529 | 0.059507 | 0.108 | 0.65489 | 0.466806 | 1.25 | 0.004671 | 0.018974 | 3.288416 | 0.00107 | 0.156437 | 0.057134 | 0.000222 | 0.0174 | 0.379547 | 0.116 | 0.010801 | 0.901 | 0.000124 |
GPR153 | Q206R | Benign | 0.705 | 1 | 0 | 0.001 | 0.223313 | 1 | 0 | 1.46 | 0.37 | 0.103 | -0.9909 | 0.0266 | 0.012361 | 0.003492 | 0.029 | null | 0.122053 | 0.505175 | 0.328215 | 0.326529 | 0.002716 | -0.522628 | -0.803223 | 0.013736 | 0.314169 | 0.208877 | 0.3237 | 0.081771 | 0.828565 | 0.634777 | 0.626922 | 0.643519 | 0.655142 | 0.384203 | -1.184213 | -1.134117 | -2.28 | 0.092 | 0.022 | 0.085 | 6.0997 | 862 | 0.0528 | 0.999184 | 4 | 0.031732 | 0.043877 | 0.031732 | 0.043877 | 0.014 | 0.0307 | 0.288873 | -2.21 | 0.002614 | 0.055738 | -2.55739 | 0.000347 | 0.089278 | 0.009527 | 0.000074 | 0 | 0.278174 | 0.012 | 0.000739 | 0.028 | 0.000101 |
TNFRSF25 | G175S | Benign | 0.414 | 0.836 | 0.012667 | 0.008 | 0.017914 | 1 | null | -2.83 | 0.236667 | 0.069 | -0.3982 | 0.3953 | 0.050663 | 0.063218 | 0.18 | 0.3 | 0.640861 | 0.455215 | 0.237861 | 0.316497 | 0.021494 | -0.276785 | -0.453831 | 0.046191 | 0.755524 | 0.764229 | 0.05374 | 0.086164 | 0.999356 | 0.67177 | 0.541168 | 0.723109 | 0.711 | 0.746899 | -1.176735 | -1.095651 | 1.55 | 0 | 0 | 0.434 | 4.0243 | 834 | 0.0606 | 1.01768 | 5 | 0.033614 | 0.036104 | 0.033614 | 0.036104 | 0.029 | 0.05502 | 0.266141 | -1.728 | 0.03695 | null | -2.414222 | 0.000889 | 0.345072 | 0.097984 | 0.000151 | 0.0002 | null | 0.044 | 0.080882 | 0.286 | 0.000045 |
NOL9 | V301I | Benign | 0.462 | 0.679 | 0.053 | 0.028 | 0.354681 | 0.996695 | 0.315 | 2.14 | -0.12 | 0.092 | -1.0111 | 0.0282 | 0.051931 | 0.002271 | 0.049 | 0.644 | 0.061188 | 0.380804 | 0.373526 | 0.246113 | 0.034466 | -0.40636 | -0.738619 | 0.02973 | 0.647135 | 0.890481 | 0.06872 | 0.027467 | 1 | 0.730579 | 0.724815 | 0.65145 | 0.648885 | 0.397999 | -1.246222 | -1.242309 | -5.11 | 0.638 | 0 | 0.986 | 15.0501 | 840 | 0.0759 | 1.01607 | 7 | 0.023229 | 0.041288 | 0.023229 | 0.041288 | 0.172 | 0.05093 | 0.287033 | -5.342 | 0.043726 | null | -5.114096 | 0.000241 | 0.02561 | 0.051891 | 0.000034 | 0.0001 | null | 0.036 | 0.004888 | 0.005 | 0.000008 |
NOL9 | S211L | Benign | 0.517 | 1 | 0.001 | 0 | 0.500743 | 1 | -1.43 | 2.49 | 0.87 | 0.114 | -0.958 | 0.0128 | 0.011545 | 0.004248 | 0.033 | null | 0.226586 | 0.417477 | 0.375486 | 0.266622 | 0.014264 | -0.584609 | -0.808227 | 0.01472 | 0.669433 | 0.643472 | 0.00653 | 0.017345 | 0.990697 | 0.706548 | 0.724815 | 0.724815 | 0.714379 | 0.946495 | -1.165905 | -1.083412 | 2.32 | 0.003 | 0 | 0.354 | 5.6887 | 840 | 0.0964 | 0.993643 | 6 | 0.019237 | 0.023913 | 0.019237 | 0.023913 | 0.061 | 0.31961 | 0.41471 | 0.951 | 0.023959 | null | -1.57835 | 0.000425 | 0.040378 | 0.00997 | 0.000072 | 0.0012 | null | 0.023 | 0.045758 | 0.702 | 0.000128 |
TAS1R1 | I96V | Benign | 1 | 1 | 0 | 0.001 | 0.132556 | 0.999999 | -0.395 | -1.66 | 0.42 | 0.087 | -0.8633 | 0.1563 | 0.038546 | 0.032039 | 0.213 | null | 0.098658 | 0.290663 | 0.1363 | 0.39099 | 0.054673 | -0.133482 | -0.414028 | 0.019332 | 0.463004 | 0.175251 | 0.00177 | 0.036684 | 0.999651 | 0.554377 | 0.588066 | 0.547309 | 0.530356 | -0.11045 | -1.415751 | -1.313683 | -1.35 | 0.009 | 0 | 0.632 | 10.185 | 829 | 0.0656 | 1.01775 | 46 | 0.033482 | 0.04024 | 0.033482 | 0.04024 | 0.022 | 0.09051 | 0.314735 | -3.145 | 0.001275 | null | -2.852956 | 0.00014 | 0.23163 | 0.397015 | 0.000036 | 0.0004 | null | 0.019 | 0.000227 | 0.042 | 0.000008 |
TAS1R1 | T510M | Benign | 0.182 | 0.217 | 0.189 | 0.075 | 0.112425 | 1 | 0.75 | -2.58 | -1.73 | 0.121 | -0.5404 | 0.4798 | 0.075925 | 0.060982 | 0.281 | null | 0.221735 | 0.12446 | 0.186988 | 0.21164 | 0.256164 | -0.20177 | -0.351758 | 0.030649 | 0.370463 | 0.864886 | 0.0113 | 0.04565 | 0.999994 | 0.497415 | 0.547309 | 0.59043 | 0.542086 | -0.70671 | -1.565739 | -1.681503 | -8.16 | 0 | 0 | 0.135 | 4.6913 | 798 | 0.0733 | 0.946552 | 14 | 0.021348 | 0.037089 | 0.021348 | 0.037089 | 0.03 | 0.05483 | 0.354676 | -5.677 | 0.029577 | null | -4.065007 | 0.000325 | 0.069875 | 0.282424 | 0.000009 | 0.0002 | null | 0.023 | 0.000272 | 0.015 | 0.000028 |
ZBTB48 | G668S | Benign | 1 | 0.936 | 0 | 0.001 | 0.491458 | 1 | null | 3.12 | 0.61 | 0.046 | -0.9172 | 0.0084 | 0.03538 | 0.003892 | 0.013 | null | 0.043078 | 0.415845 | 0.373378 | 0.312659 | 0.045657 | -0.535327 | -0.823969 | 0.01993 | 0.461754 | 0.419115 | 0.0786 | 0.061674 | 1 | 0.67177 | 0.702456 | 0.606735 | 0.636168 | -0.679044 | -1.887066 | -1.878505 | -4.76 | 0 | 0.002 | 0 | 10.2071 | 763 | 0.084 | 0.97813 | 2 | 0.024128 | 0.037978 | 0.024128 | 0.037978 | 0.201 | 0.05468 | 0.280894 | -3.551 | 0.006007 | null | -3.513034 | 0.011371 | 0.02186 | 0.013712 | 0.000003 | 0 | null | 0.01 | 0.002559 | 0.014 | 0.000014 |
THAP3 | R150W | Benign | 0.189 | 0.061 | 0 | 0 | 0.000988 | 1 | 0.345 | -3.49 | -1.03 | 0.094 | -0.1386 | 0.6492 | 0.046958 | 0.06178 | 0.171 | 0.314 | 0.368934 | 0.14481 | 0.344702 | 0.245629 | 0.018392 | -0.25339 | -0.353444 | 0.07114 | 0.304969 | 0.678677 | 0.03668 | 0.081006 | 0.956121 | 0.67177 | 0.702456 | 0.702456 | 0.636168 | 0.316433 | -1.498443 | -1.572773 | -1.72 | 0 | 0 | 0.004 | 5.7928 | 739 | 0.0621 | 0.829627 | 9 | 0.043484 | 0.030241 | 0.043484 | 0.030241 | 0.038 | 0.06156 | 0.38724 | -5.371 | 0.168616 | null | -5.393248 | 0.000639 | 0.303199 | 0.194084 | 0.000006 | 0.0005 | null | 0.078 | 0.009353 | 0.024 | 0.000012 |
PER3 | I351V | Benign | 0.638 | 0.782333 | 0.104 | 0.116 | 0.094465 | 0.99635 | null | 2.72 | -0.23 | 0.178 | -1.0743 | 0.0121 | 0.035897 | 0.003837 | 0.04 | null | 0.173772 | 0.197078 | null | 0.270823 | 0.010937 | -0.335032 | -0.719027 | 0.127172 | 0.789521 | 0.466864 | 0.02652 | 0.04113 | 0.921183 | 0.706298 | 0.573888 | 0.709663 | 0.567892 | -0.457256 | -1.603963 | -1.651363 | -8.56 | 0.035 | 0 | 0.995 | 13.6364 | 673 | 0.0891 | 0.941461 | 24 | 0.043706 | 0.06278 | 0.043706 | 0.06278 | null | 0.0567 | 0.293858 | -6.574 | 0.093196 | 0.177868 | null | 0.008062 | 0.070819 | 0.042546 | 0.000074 | 0.0001 | 0.132785 | 0.023 | 0.000098 | 0.012 | null |
PER3 | Y463C | Benign | 0.21 | 1 | 0.007 | 0.003 | 0.004838 | 0.846549 | -0.595 | 3.42 | 5.66 | 0.19 | -0.9377 | 0.0042 | 0.014301 | 0.003059 | 0.067 | null | 0.193866 | null | 0.476901 | 0.310275 | 0.077049 | -0.489058 | -0.648126 | 0.0368 | 0.879912 | 0.913037 | 0.08602 | 0.065479 | 0.999979 | 0.617157 | 0.588015 | 0.786243 | 0.505526 | 0.801476 | -1.162148 | -1.030907 | -3.28 | 0.88 | 0 | 0.993 | 9.1295 | 656 | 0.0776 | 0.896761 | 9 | 0.063396 | 0.079787 | 0.061598 | 0.098165 | null | 0.04073 | 0.525642 | -5.529 | 0.033368 | 0.123904 | null | 0.001439 | 0.270212 | 0.050381 | 0.000112 | 0.0006 | 0.265801 | 0.088 | 0.001233 | 0.062 | 0.000168 |
PER3 | G970S | Benign | 0.054 | 0.337 | 0.987 | 0.849 | 0.750982 | 1 | null | 2.88 | -1.57 | 0.101 | -1.0228 | 0.0504 | 0.087233 | 0.001715 | 0.091 | null | 0.366277 | 0.249949 | null | 0.230515 | null | -0.365451 | -0.606356 | 0.064878 | 0.549745 | 0.742172 | 0.05219 | 0.053266 | 0.999942 | 0.732398 | 0.541556 | 0.743671 | 0.620846 | 1.617641 | -0.787443 | -0.99151 | 2.09 | 0.007 | 0.124 | 0.003 | 9.0748 | 530 | 0.0755 | 0.998691 | 9 | 0.023451 | 0.025192 | 0.023451 | 0.025192 | null | 0.02372 | 0.300283 | -0.079 | 0.024915 | null | null | 0.001261 | 0.012754 | 0.064614 | 0.00017 | 0.0002 | 0.118234 | 0.032 | 0.005902 | 0.265 | 0.000024 |
PER3 | L1030S | Benign | 0.906 | 0.898 | 0 | 0.002 | 0.011477 | 1 | 0 | 2.56 | 1.43 | 0.025 | -0.9985 | 0.0114 | 0.00329 | 0.001073 | 0.005 | null | 0.202086 | null | 0.119216 | 0.40486 | 0.022279 | -0.694439 | -0.769336 | 0.004137 | 0.286271 | 0.337331 | 0.00044 | 0.024445 | 0.999957 | 0.706548 | 0.541556 | 0.724815 | 0.620846 | -0.324469 | -1.807645 | -1.848175 | -1.9 | 0.001 | 0 | 0.005 | 4.7037 | 534 | 0.0701 | 0.920449 | 9 | 0.013359 | 0.029727 | 0.013359 | 0.029727 | null | 0.02892 | 0.449477 | 1.651 | 0.00234 | 0.023136 | null | 0.000422 | 0.089061 | 0.108938 | 0.000173 | 0.0001 | 0.179521 | 0.02 | 0.001153 | 0.016 | 0.000183 |
UTS2 | K70E | Benign | 0.2895 | 0.342 | 0.003 | 0.0045 | 0.40812 | 1 | 0.55 | 1.375 | -1.045 | 0.081 | -1.0489 | 0.0344 | 0.04522 | 0.004387 | 0.008 | 0.187 | 0.1074 | null | null | 0.271456 | 0.068656 | -0.375668 | -0.777397 | 0.048707 | 0.421058 | 0.430251 | 0.01874 | 0.057257 | 0.012934 | 0.487112 | 0.59043 | 0.547309 | 0.564101 | 0.084654 | -1.375262 | -1.388214 | -3.1 | 0 | 0 | 0.002 | 5.7177 | 631 | 0.0813 | 1.0139 | 15 | 0.058385 | 0.041453 | 0.058385 | 0.041453 | 0.158 | 0.23576 | 0.289123 | -2.517 | 0.038187 | null | -3.075957 | 0.00013 | 0.120589 | 0.013577 | 0.000054 | 0.0002 | null | 0.026 | 0.001522 | 0.043 | null |
PARK7 | L101P | Pathogenic | 0.002 | 0.031 | 0.997 | 0.982 | 0 | 1 | 1.825 | -1.18 | -5.12 | 0.95475 | -0.0966 | 0.4965 | 0.920669 | 0.188939 | 0.792 | 0.753 | 0.862803 | 0.96156 | 0.741099 | 0.707538 | 0.539385 | 0.367405 | 0.289976 | 0.990334 | 0.946005 | 0.998853 | 0.98489 | 0.952494 | 1 | 0.706548 | 0.724815 | 0.724815 | 0.714379 | 4.362291 | 0.525013 | 0.49588 | 5.11 | 1 | 1 | 0.72 | 11.6474 | 803 | 0.848 | 0.742752 | 72 | 0.987198 | 0.958356 | 0.987198 | 0.958356 | 0.807 | 0.96737 | 0.388019 | -9.4 | 0.549153 | 0.26855 | -9.653617 | 0.999875 | 0.733957 | 0.736339 | 0.000583 | 0.6027 | 0.916828 | 0.875 | 0.171287 | 0.967 | null |
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