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clv_path_parsed.tsv
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clv_path_parsed.tsv
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Chr pos rs_ID is_mean is_max is_5pct_mean is_5pct_max median_mean REF ALT gene conseq ens_tr ccr-exon_pct ccr_exon_z ccr_exon_frac max_pLI min_LOEUF rescue rescue_oe_mis rescue_loeuf_min pext_avg
1 2339890 6770 1 1 1 1 12.3643 C T PEX10 splice_donor_variant ENST00000288774 22.030206096679798 0.8883823143344906 0.4073311232585466 0.011917 0.73 True 0.45561 0.535 9.6497e-01
1 5987793 596144 1 0 1 1 2.55838 C A NPHP4 stop_gained ENST00000378156 19.1064588928116 0.5726145528827666 0.27964905401259993 1.743e-29 0.983 True 1 1 3.7667e-01
1 6529298 489025 1 1 1 1 5.07773 G A PLEKHG5 stop_gained ENST00000340850 22.76512690143718 0.5600905788240768 0.34775985373658996 5.7471e-05 0.555 True 0.67686 0.501 7.7463e-01
1 12025599 14370 1 1 1 1 36.2478 C G PLOD1 stop_gained ENST00000196061 30.67561125790265 0.8935122580477025 0.4611427866843366 1.4837e-15 0.931 True 1 1 9.0234e-01
1 12027042 265507 1 1 1 1 36.2478 A G PLOD1 splice_acceptor_variant ENST00000196061 30.242090250144233 0.880884756307096 0.45462571734468604 1.4837e-15 0.931 True 1 1 9.0234e-01
1 16381956 447098 1 1 1 1 1.1842700000000002 C T CLCNKB stop_gained ENST00000375667 NA NA NA 4.4167e-05 1 True 1 0.892 1.0000e+00
1 16382003 7599 1 1 1 1 1.1842700000000002 G A CLCNKB stop_gained ENST00000375667 NA NA NA 4.4167e-05 1 True 1 0.892 1.0000e+00
1 17318840 465252 1 1 1 1 9.67095 G A ATP13A2 stop_gained ENST00000326735 NA NA NA 0.0059564 0.584 True 0.90838 0.822 5.2763e-01
1 17349214 428923 1 1 1 1 63.5284 C T SDHB stop_gained ENST00000375499 34.165126942025 0.8761104596676919 0.6278944259166118 0.00024397 0.825 True 1 1 8.7908e-01
1 17350470 230243 1 1 1 1 63.5284 G A SDHB stop_gained&splice_region_variant ENST00000375499 50.028579177811885 1.282903516628831 0.919436537015662 0.00024397 0.825 True 1 1 8.7908e-01
1 17355094 29896 1 1 1 1 63.5284 C T SDHB splice_donor_variant ENST00000375499 32.91673583876471 0.8440974510469897 0.6049512120239441 0.00024397 0.825 True 1 1 8.7908e-01
1 17355144 187145 1 1 1 1 63.5284 G T SDHB stop_gained ENST00000375499 32.91673583876471 0.8440974510469897 0.6049512120239441 0.00024397 0.825 True 1 1 8.7908e-01
1 17355175 197210 1 1 1 1 63.5284 G A SDHB stop_gained ENST00000375499 32.91673583876471 0.8440974510469897 0.6049512120239441 0.00024397 0.825 True 1 1 8.7908e-01
1 17355233 420072 1 1 1 1 63.5284 T C SDHB splice_acceptor_variant ENST00000375499 32.91673583876471 0.8440974510469897 0.6049512120239441 0.00024397 0.825 True 1 1 8.7908e-01
1 17359553 140773 1 1 1 1 63.5284 A T SDHB splice_donor_variant ENST00000375499 39.82945644148236 1.0213632002736284 0.7319947538708889 0.00024397 0.825 True 1 1 8.7908e-01
1 17359554 183757 1 1 1 1 63.5284 C T SDHB splice_donor_variant ENST00000375499 39.82945644148236 1.0213632002736284 0.7319947538708889 0.00024397 0.825 True 1 1 8.7908e-01
1 17359573 12778 1 1 1 1 63.5284 G A SDHB stop_gained ENST00000375499 39.82945644148236 1.0213632002736284 0.7319947538708889 0.00024397 0.825 True 1 1 8.7908e-01
1 17371320 142763 1 1 1 1 63.5284 G A SDHB stop_gained ENST00000375499 27.999979509291332 0.7180150379712654 0.5145899527754347 0.00024397 0.825 True 1 1 8.7908e-01
1 17371377 12783 1 1 1 1 63.5284 G A SDHB stop_gained ENST00000375499 27.999979509291332 0.7180150379712654 0.5145899527754347 0.00024397 0.825 True 1 1 8.7908e-01
1 20975710 431963 1 1 1 1 64.881 C T PINK1 stop_gained ENST00000321556 28.702724512063558 0.8826041581253574 0.72849173350878 1.8749e-10 1 True 0.83653 0.731 8.0109e-01
1 24147035 195033 1 1 1 1 21.3582 C A HMGCL stop_gained ENST00000235958 25.035996453485293 0.6152981999077172 0.48865940817557746 0.0040322 1 True 1 1 9.3882e-01
1 24151875 521752 1 1 1 1 21.3582 G A HMGCL stop_gained ENST00000374490 35.47882672491304 0.8719468489794348 0.6924854180408047 0.0040322 1 True 0.88506 1 9.3761e-01
1 24175161 683 1 1 1 1 15.7213 C A FUCA1 stop_gained ENST00000374479 31.450718173174867 0.7981633462515724 0.5884104446113955 2.6956e-08 0.944 False 1 1 1.0000e+00
1 24175174 198046 1 1 1 1 15.7213 C T FUCA1 stop_gained ENST00000374479 31.450718173174867 0.7981633462515724 0.5884104446113955 2.6956e-08 0.944 False 1 1 1.0000e+00
1 26139211 95958 1 1 1 1 29.1457 C T SEPN1 stop_gained ENST00000354177 30.97307514093617 0.9334171352041502 0.3754939496928163 9.7863e-10 1 True 1 1 1.0000e+00
1 26140453 461630 1 1 1 1 29.1457 G A SEPN1 stop_gained ENST00000354177 35.95744808580357 1.0836282167263118 0.43592068728002586 9.7863e-10 1 True 0.76954 0.603 1.0000e+00
1 41475832 140454 1 1 1 1 12.0529 G C CTPS1 splice_acceptor_variant ENST00000372616 54.47578973080247 0.77609868003285 0.5668950114841269 0.99259 0.287 True 1 1 6.5054e-01
1 43218336 284532 1 1 1 1 5.43141 C G LEPRE1 splice_acceptor_variant ENST00000236040 27.249238768259843 0.7144896073427491 0.2844461601538875 4.8173e-05 1 True 1 1 3.3362e-01
1 43223453 1253 1 1 1 1 5.43141 C A LEPRE1 splice_donor_variant ENST00000236040 35.152826660244614 0.9217259069534678 0.366949207172305 1.1763e-19 1 True 0.79947 1 3.3362e-01
1 43394689 207196 1 1 1 1 48.6323 G A SLC2A1 stop_gained ENST00000426263 39.92645758071288 0.6830868649795954 0.5183311187765458 0.9941 0.241 True 0.53042 0.44 8.7910e-01
1 43395284 159930 1 1 1 1 48.6323 G A SLC2A1 stop_gained ENST00000426263 57.453401522347605 0.982948809044171 0.7458684715115369 0.9941 0.241 True 0.53042 0.812 8.9766e-01
1 43395323 450860 1 1 1 1 48.6323 G A SLC2A1 stop_gained ENST00000426263 57.453401522347605 0.982948809044171 0.7458684715115369 0.9941 0.241 True 0.53042 0.812 8.9766e-01
1 43395383 159928 1 1 1 1 48.6323 G A SLC2A1 stop_gained ENST00000426263 57.453401522347605 0.982948809044171 0.7458684715115369 0.9941 0.241 True 0.53042 0.812 8.9766e-01
1 43395666 647165 1 1 1 1 48.6323 C T SLC2A1 stop_gained ENST00000426263 71.2895230444074 1.2196658494897057 0.9254910271454708 0.9941 0.241 True 0.53042 0.812 8.9766e-01
1 43396332 521908 1 1 1 1 48.6323 G A SLC2A1 stop_gained ENST00000426263 61.78881523451305 1.0571217845716376 0.8021514471610328 0.9941 0.241 True 0.58174 0.812 9.7922e-01
1 43803817 371574 1 1 1 1 0.09133480000000001 C T MPL stop_gained ENST00000372470 49.367993425137406 1.20014972102757 0.6759482222563893 6.7386e-08 0.763 False 1 1 1.0000e+00
1 43889995 430047 0 0 1 1 4.56899 C G SZT2 stop_gained ENST00000562955 43.4077046639628 1.0439986802546324 0.5794096239473799 2.3263e-14 0.405 True 0.8681 0.373 2.3273e-01
1 45796892 5297 0 1 1 1 3.91716 C A MUTYH stop_gained ENST00000354383 31.62358787521052 1.0135865989766517 0.45759995177063534 0.0014861 1 True 0.77806 1 1.7206e-01
1 45797134 406830 0 0 1 1 3.91716 C T MUTYH stop_gained ENST00000354383 31.384936175985292 1.005937430099539 0.4541466116092853 0.0014861 1 True 0.77806 1 1.7206e-01
1 45797175 406824 0 0 1 1 3.91716 G A MUTYH stop_gained ENST00000354383 31.384936175985292 1.005937430099539 0.4541466116092853 0.0014861 1 True 0.77806 1 1.7206e-01
1 45797348 156509 0 0 1 1 3.91716 G A MUTYH stop_gained ENST00000354383 48.076798342164906 1.5409383246965571 0.6956813594167409 5.4131e-17 1 True 0.77806 1 1.4530e-01
1 45797507 127835 0 0 1 1 3.91716 G A MUTYH stop_gained ENST00000354383 48.076798342164906 1.5409383246965571 0.6956813594167409 2.0963e-06 1 True 0.77806 1 1.4530e-01
1 45797752 140876 0 0 1 1 3.91716 G A MUTYH stop_gained ENST00000354383 46.985986797774196 1.5059760690611002 0.6798970874968768 0.0014861 1 True 0.77806 1 1.4621e-01
1 45797972 186651 0 0 1 1 3.91716 G A MUTYH stop_gained ENST00000354383 31.62681500394816 1.0136900336171026 0.45764664900058055 2.0963e-06 1 True 0.77806 1 1.4548e-01
1 45798112 143003 0 0 1 1 3.91716 G A MUTYH stop_gained ENST00000354383 25.139874351670098 0.8057732045889818 0.3637792566814333 2.0963e-06 1 True 0.77806 1 1.4548e-01
1 45798308 233460 0 0 1 1 3.91716 G A MUTYH stop_gained ENST00000354383 20.635341896867253 0.6613957307596253 0.29859772692582764 2.0963e-06 1 True 0.77806 1 1.4548e-01
1 45798350 406822 0 0 1 1 3.91716 C A MUTYH stop_gained ENST00000354383 20.635341896867253 0.6613957307596253 0.29859772692582764 2.0963e-06 1 True 0.77806 1 1.4548e-01
1 45798631 234000 0 0 1 1 3.91716 T A MUTYH stop_gained&splice_region_variant ENST00000354383 24.588236325341462 0.7880923230527367 0.35579693869654994 7.0429e-13 1 True 0.77806 1 1.4548e-01
1 45799121 5296 0 0 1 1 3.91716 G T MUTYH stop_gained ENST00000354383 29.600501174026466 0.9487434326357613 0.42832546272332084 0.019741 1 True 0.77806 1 1.6155e-01
1 45799125 485909 0 0 1 1 3.91716 C T MUTYH stop_gained ENST00000354383 29.600501174026466 0.9487434326357613 0.42832546272332084 0.019741 1 True 0.77806 1 1.6155e-01
1 45799144 140827 0 0 1 1 3.91716 G A MUTYH stop_gained ENST00000354383 29.600501174026466 0.9487434326357613 0.42832546272332084 0.019741 1 True 0.77806 1 1.6155e-01
1 45800165 127845 0 0 1 1 3.91716 G A MUTYH stop_gained&NMD_transcript_variant ENST00000461495 25.85719929206098 0.8287646168715163 0.3741590990769905 0.034806 1 True 1 1 1.8740e-01
1 45973163 203825 1 1 1 1 1.60289 C T MMACHC stop_gained ENST00000401061 35.46978759712436 1.5879791909209402 1.0 1.1402e-13 1 True 0.86272 1 1.0000e+00
1 45973938 1424 1 1 1 1 1.60289 C T MMACHC stop_gained ENST00000401061 20.565958752619043 0.9207361180574174 0.5798162364605303 1.1402e-13 1 True 0.86272 1 1.0000e+00
1 45974001 1423 1 1 1 1 1.60289 C T MMACHC stop_gained ENST00000401061 20.565958752619043 0.9207361180574174 0.5798162364605303 1.1402e-13 1 True 0.86272 1 1.0000e+00
1 45974495 550539 1 1 1 1 1.60289 C T MMACHC stop_gained ENST00000401061 18.797675050596503 0.8415702162383694 0.5299630001765357 1.1402e-13 1 True 0.86272 1 1.0000e+00
1 45974519 95703 1 1 1 1 1.60289 C T MMACHC stop_gained ENST00000401061 18.797675050596503 0.8415702162383694 0.5299630001765357 1.1402e-13 1 True 0.86272 1 1.0000e+00
1 45974646 95706 1 1 1 1 1.60289 G A MMACHC stop_gained ENST00000401061 18.797675050596503 0.8415702162383694 0.5299630001765357 1.1402e-13 1 True 0.86272 1 1.0000e+00
1 45974647 30800 1 1 1 1 1.60289 G A MMACHC stop_gained ENST00000401061 18.797675050596503 0.8415702162383694 0.5299630001765357 1.1402e-13 1 True 0.86272 1 1.0000e+00
1 45974653 558292 1 1 1 1 1.60289 C A MMACHC stop_gained ENST00000401061 18.797675050596503 0.8415702162383694 0.5299630001765357 1.1402e-13 1 True 0.86272 1 1.0000e+00
1 45974653 281007 1 1 1 1 1.60289 C G MMACHC stop_gained ENST00000401061 18.797675050596503 0.8415702162383694 0.5299630001765357 1.1402e-13 1 True 0.86272 1 1.0000e+00
1 46657769 56582 1 1 1 1 23.4493 C T POMGNT1 splice_donor_variant ENST00000371984 39.45127021588 1.005597642500926 0.5668923867831434 0.045263 0.825 True 1 1 6.0341e-01
1 46659546 56610 1 1 1 1 23.4493 G A POMGNT1 stop_gained ENST00000371984 34.19303537187143 0.8715672669536556 0.49133453314053877 3.3453e-20 1 True 0.98842 0.825 6.0341e-01
1 46660525 56604 1 1 1 1 23.4493 G A POMGNT1 stop_gained ENST00000371984 46.48381312119131 1.184854445328052 0.6679460413532327 3.3453e-20 1 True 0.98842 0.825 6.0341e-01
1 57406638 17038 1 1 1 1 2.81199 G A C8B stop_gained ENST00000371237 27.3943572757362 0.8450675742171875 0.6034071449042616 3.9653e-17 1 False 1 1 9.8801e-01
1 64097420 499573 1 1 1 1 54.2543 C T PGM1 stop_gained ENST00000371083 31.555865771422223 0.9458458819012654 0.6765815384608702 1.0197e-10 1 False 1 1 9.9473e-01
1 68910339 98866 1 1 1 1 0.10961900000000001 G A RPE65 stop_gained ENST00000262340 32.208199104128575 0.8812746239548298 0.6126737404266474 6.4889e-14 1 False 1 1 1.0000e+00
1 68910508 98863 1 1 1 1 0.10961900000000001 C A RPE65 stop_gained ENST00000262340 33.059385105476636 0.9045646135884778 0.6288652483578645 6.4889e-14 1 False 1 1 1.0000e+00
1 68912545 98899 1 1 1 1 0.10961900000000001 T A RPE65 splice_acceptor_variant ENST00000262340 52.56990299878001 1.438407696959783 1.0 6.4889e-14 1 False 1 1 1.0000e+00
1 76199314 371544 1 1 1 1 12.0686 G A ACADM splice_donor_variant ENST00000370834 53.294111241666684 1.4433287839763118 0.9862093214649847 1.3297e-10 1 True 0.88989 1 7.9607e-01
1 76215189 569821 1 1 1 1 12.0686 GTGACGGAGC TTTAA ACADM stop_gained&frameshift_variant ENST00000370834 36.881421286735716 0.9988348749398824 0.6824919416878971 0 1 True 0.88989 1 7.9665e-01
1 76226805 265452 1 1 1 1 12.0686 A C ACADM splice_acceptor_variant ENST00000370834 41.980652094536275 1.1369339337207556 0.7768533793362391 4.6241e-09 1 True 1 1 7.9665e-01
1 76227056 555602 1 1 1 1 12.0686 G A ACADM splice_donor_variant ENST00000370834 41.980652094536275 1.1369339337207556 0.7768533793362391 4.6241e-09 1 True 1 1 7.9665e-01
1 92763018 523551 0 0 1 1 3.5238199999999997 G T GLMN stop_gained ENST00000370360 53.948148018408 1.200167557417329 0.6631933785330434 1.1537e-12 0.906 True 0.88053 0.77 3.7797e-01
1 94463488 99476 1 1 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 32.35795573444579 0.9257813752348382 0.5029166691061595 5.4442e-07 0.91 True 1 1 9.9023e-01
1 94466426 99460 1 1 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 43.74674406147827 1.2516217406209238 0.6799244979563952 5.4442e-07 0.91 True 1 1 9.9023e-01
1 94471026 99431 1 1 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 39.29623639902837 1.1242899296113054 0.6107534258466671 5.4442e-07 0.91 True 1 1 9.9023e-01
1 94471056 7907 1 1 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 39.29623639902837 1.1242899296113054 0.6107534258466671 5.4442e-07 0.91 True 1 1 9.9023e-01
1 94473297 502303 1 1 1 1 0.247268 CT C ABCA4 splice_acceptor_variant ENST00000370225 32.38631409461321 0.9265927256764624 0.5033574229088335 NA NA NA NA NA 9.9023e-01
1 94473790 377408 1 1 1 1 0.247268 C T ABCA4 splice_donor_variant ENST00000370225 45.124574602516134 1.2910423351600504 0.701339137125144 5.4442e-07 0.91 True 1 1 9.9023e-01
1 94480243 99367 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 27.454395276625853 0.7854874400603371 0.42670411994372043 3.2475e-12 0.91 True 0.96002 1 5.1011e-01
1 94481294 236128 0 0 1 1 0.247268 C T ABCA4 splice_donor_variant ENST00000370225 43.73246181385217 1.2512131165731857 0.6797025191496247 3.2475e-12 0.91 True 0.96002 1 5.1011e-01
1 94485136 99355 0 0 1 1 0.247268 A G ABCA4 splice_donor_variant ENST00000370225 36.18143921429379 1.0351736317547167 0.5623423507483597 5.3499e-48 0.91 True 1 1 4.8682e-01
1 94485137 99351 0 0 1 1 0.247268 C T ABCA4 splice_donor_variant ENST00000370225 36.18143921429379 1.0351736317547167 0.5623423507483597 5.3499e-48 0.91 True 1 1 4.8682e-01
1 94486794 99338 0 0 1 1 0.247268 A G ABCA4 splice_donor_variant ENST00000370225 34.433578799579884 0.9851662508270695 0.535176600691576 5.3499e-48 0.91 True 1 1 4.8682e-01
1 94486794 99337 0 0 1 1 0.247268 A T ABCA4 splice_donor_variant ENST00000370225 34.433578799579884 0.9851662508270695 0.535176600691576 5.3499e-48 0.91 True 1 1 4.8682e-01
1 94490606 92869 0 0 1 1 0.247268 T C ABCA4 splice_acceptor_variant ENST00000370225 39.14105382367021 1.1198500589591978 0.6083415335583244 5.3499e-48 0.91 True 1 1 4.8682e-01
1 94496571 99263 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 33.35385783233066 0.9542747578621479 0.5183952663925425 5.3499e-48 0.91 False 1 1 4.8682e-01
1 94497564 99245 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 38.64426270417738 1.1056365539534123 0.6006202628727697 5.3499e-48 0.91 False 1 1 4.8682e-01
1 94497591 236106 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 38.64426270417738 1.1056365539534123 0.6006202628727697 5.3499e-48 0.91 False 1 1 4.8682e-01
1 94502760 99238 0 0 1 1 0.247268 C A ABCA4 stop_gained ENST00000370225 30.566876875180494 0.8745374875463605 0.4750792055345879 5.3499e-48 0.91 False 1 1 4.8682e-01
1 94508997 99197 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 30.273727069316553 0.866150288038153 0.4705229868066764 5.3499e-48 0.91 True 1 0.981 4.8682e-01
1 94520665 590903 0 0 1 1 0.247268 A G ABCA4 splice_donor_variant ENST00000370225 46.15271211566666 1.3204579932030514 0.7173187465213681 3.7065e-21 0.91 True 1 1 4.8776e-01
1 94520690 99144 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 46.15271211566666 1.3204579932030514 0.7173187465213681 3.7065e-21 0.91 True 1 1 4.8776e-01
1 94526092 236090 0 0 1 1 0.247268 C A ABCA4 splice_donor_variant ENST00000370225 36.456348419900905 1.0430389562678084 0.5666150688126649 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94526212 99114 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 36.456348419900905 1.0430389562678084 0.5666150688126649 3.7065e-21 0.91 True 1 1 4.8776e-01
1 94526265 372289 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 36.456348419900905 1.0430389562678084 0.5666150688126649 3.7065e-21 0.91 True 1 1 4.8776e-01
1 94528132 99104 0 0 1 1 0.247268 C T ABCA4 splice_donor_variant ENST00000370225 27.44506700296591 0.7852205523098147 0.42655913722738104 3.7065e-21 0.91 True 1 1 4.8776e-01
1 94528164 265012 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 27.44506700296591 0.7852205523098147 0.42655913722738104 3.7065e-21 0.91 True 1 1 4.8776e-01
1 94528167 99096 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 27.44506700296591 0.7852205523098147 0.42655913722738104 3.7065e-21 0.91 True 1 1 4.8776e-01
1 94528236 372288 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 27.44506700296591 0.7852205523098147 0.42655913722738104 3.7065e-21 0.91 True 1 1 4.8776e-01
1 94528714 620085 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 36.39143570815687 1.0411817629382358 0.5656061767478856 3.7065e-21 0.91 True 1 1 4.8776e-01
1 94543304 848932 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 34.8245216727665 0.9963513712267394 0.5412527474422345 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94544185 99043 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 35.28854280364656 1.0096273063386372 0.5484646975249973 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94544209 236080 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 35.28854280364656 1.0096273063386372 0.5484646975249973 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94544877 236079 0 0 1 1 0.247268 C G ABCA4 splice_donor_variant ENST00000370225 33.08151595238849 0.94648288614392 0.5141624504432698 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94544895 99035 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 33.08151595238849 0.94648288614392 0.5141624504432698 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94546047 236078 0 0 1 1 0.247268 A T ABCA4 stop_gained ENST00000370225 33.24141743440266 0.951057767670307 0.5166476853381955 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94546151 99517 0 0 1 1 0.247268 C A ABCA4 stop_gained ENST00000370225 33.24141743440266 0.951057767670307 0.5166476853381955 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94548913 280811 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 20.363863477606735 0.5826228853921186 0.3165010322141094 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94564463 265008 0 0 1 1 0.247268 T A ABCA4 stop_gained ENST00000370225 23.548969576314715 0.673750765303017 0.36600486870668275 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94568687 99300 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 54.85064193817322 1.5693112118321964 0.8525044773615135 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94574256 488674 0 0 1 1 0.247268 G A ABCA4 stop_gained ENST00000370225 35.59049331231655 1.0182662994648868 0.5531576993110641 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94578566 500506 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 32.4323327242043 0.9279093474846785 0.5040726577061339 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94578567 99036 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 32.4323327242043 0.9279093474846785 0.5040726577061339 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94578596 861376 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 32.4323327242043 0.9279093474846785 0.5040726577061339 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94578623 236069 0 0 1 1 0.247268 C G ABCA4 splice_acceptor_variant ENST00000370225 32.4323327242043 0.9279093474846785 0.5040726577061339 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94578624 92871 0 0 1 1 0.247268 T C ABCA4 splice_acceptor_variant ENST00000370225 32.4323327242043 0.9279093474846785 0.5040726577061339 3.7065e-21 0.91 False 1 1 4.8776e-01
1 94586557 99305 0 0 1 1 0.247268 C T ABCA4 stop_gained ENST00000370225 28.216316621384614 0.8072864868283212 0.4385461209641698 3.7065e-21 0.91 False 1 1 4.8776e-01
1 100336320 550128 1 1 1 1 5.844930000000001 C T AGL stop_gained ENST00000294724 34.42156351154954 0.9886888275672898 0.5700121963184331 9.0675e-27 0.794 True 1 1 9.9233e-01
1 100346885 1096 1 1 1 1 5.844930000000001 G A AGL stop_gained ENST00000294724 25.82179562663871 0.7416781296183004 0.42760226254938805 9.0675e-27 0.794 True 1 1 9.9233e-01
1 100350168 21215 1 1 1 1 5.844930000000001 C T AGL stop_gained ENST00000294724 45.82474583046269 1.3162218564966537 0.7588459486389011 9.0675e-27 0.794 False 1 1 9.9233e-01
1 100350260 281229 1 1 1 1 5.844930000000001 G A AGL splice_donor_variant ENST00000294724 45.82474583046269 1.3162218564966537 0.7588459486389011 9.0675e-27 0.794 False 1 1 9.9233e-01
1 100368302 456492 1 1 1 1 5.844930000000001 C T AGL stop_gained ENST00000294724 32.97466633749549 0.9471296732265542 0.5460519530321932 9.0675e-27 0.794 False 1 1 9.9233e-01
1 100379113 1108 1 1 1 1 5.844930000000001 G A AGL stop_gained ENST00000294724 34.05111058794286 0.9780483269814674 0.5638775916382367 9.0675e-27 0.794 False 1 1 9.9233e-01
1 100681641 94009 1 1 1 1 2.9748099999999997 C A DBT stop_gained ENST00000370131 38.52013799391628 0.8797100098894188 0.5988301442468177 0.0019534 0.816 True 1 1 1.0000e+00
1 100949903 559439 1 1 1 1 1.8037299999999998 C T CDC14A stop_gained ENST00000336454 NA NA NA 0.00089412 0.673 True 0.98873 0.867 7.6086e-01
1 100949996 235145 1 1 1 1 1.8037299999999998 C T CDC14A stop_gained ENST00000336454 NA NA NA 0.00089412 0.673 True 0.98873 0.867 7.6086e-01
1 103381186 39776 1 1 1 1 1.63388 C T COL11A1 splice_donor_variant ENST00000353414 28.457354715490567 0.6607011329203587 0.29677848316652866 1.0 0.185 False 1 1 3.1976e-01
1 114441361 539527 1 0 1 1 5.08606 G A AP4B1 stop_gained ENST00000256658 50.355146826768284 1.6001230064595875 1.0 4.0502e-08 0.827 True 0.94802 0.746 5.2806e-01
1 120283093 522743 1 1 1 1 39.5272 C T PHGDH stop_gained ENST00000369407 47.37425086747727 1.1475473571998085 0.7379542655702876 0.0003888 0.775 True 1 1 9.8035e-01
1 153791329 435290 1 1 1 1 8.562660000000001 G A GATAD2B stop_gained ENST00000368655 73.02735763298472 1.19365811396469 1.0 0.99998 0.097 False 1 1 1.0000e+00
1 153792201 280408 1 1 1 1 8.562660000000001 G A GATAD2B stop_gained ENST00000368655 54.473710907720935 0.8903921643934519 0.7459356694992406 0.99998 0.097 False 1 1 1.0000e+00
1 155206068 4326 1 1 1 1 16.9829 G A GBA stop_gained ENST00000327247 NA NA NA 3.1801e-05 0.801 True 1 1 8.0471e-01
1 155207370 633240 1 1 1 1 16.9829 C G GBA splice_acceptor_variant ENST00000327247 NA NA NA 3.1801e-05 0.801 True 1 1 8.0471e-01
1 155209759 642539 0 0 0 0 16.9829 GGTA G GBA splice_donor_variant&intron_variant&non_coding_transcript_variant ENST00000484489 NA NA NA NA NA NA NA NA 8.0151e-01
1 155210420 93445 1 1 1 1 16.9829 C T GBA splice_donor_variant ENST00000327247 NA NA NA 1.4355e-06 0.801 True 0.77984 0.813 8.0151e-01
1 155264517 280113 1 1 1 1 0.593859 C A PKLR stop_gained ENST00000342741 33.83987678348148 0.8434094065259227 0.42677290452939903 1.1241e-06 0.923 True 0.81279 0.742 9.9765e-01
1 156085066 200933 1 1 1 1 85.065 G A LMNA splice_donor_variant ENST00000347559 66.08063044001973 1.172467637551355 0.9472612931875409 0.9994 0.209 True 1 1 8.3860e-01
1 156100526 694069 1 1 1 1 85.065 G T LMNA stop_gained ENST00000347559 59.41336876650001 1.0541705133981 0.8516865555855652 0.9994 0.209 True 1 1 8.6881e-01
1 156104629 48074 1 1 1 1 85.065 C T LMNA stop_gained ENST00000347559 66.20366585145294 1.1746506530162149 0.9490249973496535 0.9994 0.209 True 0.79778 0.261 8.6881e-01
1 156104656 48075 1 1 1 1 85.065 C T LMNA stop_gained ENST00000347559 66.20366585145294 1.1746506530162149 0.9490249973496535 0.9994 0.209 True 0.79778 0.261 8.6881e-01
1 156105716 48096 1 1 1 1 85.065 C T LMNA stop_gained ENST00000347559 59.42937838780001 1.0544545718693754 0.8519160524059661 0.9994 0.209 True 0.55434 0.261 8.6820e-01
1 156105812 200939 1 1 1 1 85.065 C T LMNA stop_gained ENST00000347559 59.42937838780001 1.0544545718693754 0.8519160524059661 0.9994 0.209 True 0.55434 0.261 8.6820e-01
1 156106228 66817 1 1 1 1 85.065 G A LMNA splice_donor_variant ENST00000347559 41.597631905008996 0.7380661607286899 0.5962991928117926 0.9994 0.209 True 0.55434 0.396 8.6950e-01
1 156106909 520447 1 1 1 1 85.065 G A LMNA stop_gained ENST00000347559 50.36397319432773 0.893607223109834 0.7219640923587303 0.9994 0.209 True 0.55434 0.396 8.6950e-01
1 156107024 66853 1 1 1 1 85.065 G A LMNA splice_donor_variant ENST00000347559 50.36397319432773 0.893607223109834 0.7219640923587303 0.9994 0.209 True 0.55434 0.396 8.6950e-01
1 161293426 41776 1 1 1 1 51.6445 C T SDHC stop_gained ENST00000342751 49.698985433946426 1.085633286086381 0.9124847023017596 0.0014019 1 True 0.77972 1 9.2186e-01
1 161326622 183753 1 1 1 1 51.6445 C T SDHC stop_gained ENST00000367975 54.465554664730064 1.18975505380841 1.0 0.0009083 1 True 0.91435 1 8.9292e-01
1 168274374 5440 0 1 1 1 1.9243 C T TBX19 stop_gained ENST00000367821 26.538703406768818 0.6825406248675879 0.4712840438121874 7.4058e-06 0.979 True 0.82514 0.937 3.1769e-01
1 171083232 16304 1 1 1 1 4.4269300000000005 G T FMO3 stop_gained ENST00000367755 34.514363228271954 1.1094535945555437 0.867357063344309 1.04e-13 1 True 0.98334 1 9.7096e-01
1 173799901 449386 1 1 1 1 3.8408 T G DARS2 splice_donor_variant ENST00000361951 41.248312918744894 1.0592296319692551 0.5906868593326415 0.00028585 0.915 False 1 1 9.4087e-01
1 173800770 1062 1 1 1 1 3.8408 T C DARS2 splice_donor_variant ENST00000361951 52.45741392917895 1.3470719968528062 0.7512041800007251 0.00028585 0.915 False 1 1 9.4087e-01
1 179526366 504890 1 1 1 1 0.359661 C A NPHS2 splice_acceptor_variant ENST00000367615 32.27865033682475 0.8546580908576876 0.43060642966739515 7.2218e-09 1 True 0.83352 0.991 4.1121e-01
1 179530463 5361 1 1 1 1 0.359661 G A NPHS2 stop_gained ENST00000367615 29.643987922611114 0.7848988064548493 0.39545927934589836 2.9877e-07 1 True 1 1 1.0000e+00
1 179544789 549953 1 1 1 1 0.359661 G A NPHS2 stop_gained ENST00000367615 19.025462744783784 0.5037467644237474 0.2538051157595978 2.9877e-07 1 True 1 1 1.0000e+00
1 183184602 14555 1 1 1 1 4.42668 C T LAMC2 stop_gained ENST00000264144 27.88934602153332 0.7141037912734546 0.4749704415505437 3.3657e-12 0.648 False 1 1 9.8208e-01
1 183546733 2243 1 1 1 1 15.0121 C T NCF2 splice_donor_variant ENST00000367535 43.47080416771296 1.0057021937998045 0.7380559907922977 7.8589e-06 0.73 True 1 1 9.2943e-01
1 193091415 429954 1 1 1 1 8.02732 G T CDC73 stop_gained ENST00000367435 72.09670982995385 1.0084845833264457 0.7222512364341538 0.99995 0.188 True 1 1 9.5028e-01
1 193091462 3276 1 1 1 1 8.02732 G A CDC73 splice_donor_variant ENST00000367435 72.09670982995385 1.0084845833264457 0.7222512364341538 0.99995 0.188 True 1 1 9.5028e-01
1 197056096 157773 1 1 1 1 0.582016 G A ASPM stop_gained ENST00000294732 39.888859373591714 1.1553552296629532 0.7181816420598979 2.6089e-23 0.724 False 1 1 1.0000e+00
1 197059134 157918 1 1 1 1 0.582016 G A ASPM stop_gained ENST00000294732 44.50269671111764 1.2889920691323191 0.8012517856362614 2.6089e-23 0.724 False 1 1 1.0000e+00
1 197059425 21635 1 1 1 1 0.582016 G A ASPM stop_gained ENST00000294732 34.28936294720312 0.993169406821648 0.6173651333563503 2.6089e-23 0.724 False 1 1 1.0000e+00
1 197059458 21634 1 1 1 1 0.582016 G A ASPM stop_gained ENST00000294732 34.28936294720312 0.993169406821648 0.6173651333563503 2.6089e-23 0.724 False 1 1 1.0000e+00
1 197060162 157913 1 1 1 1 0.582016 G A ASPM stop_gained ENST00000294732 29.27242858664921 0.8478571206002182 0.5270374024121376 2.6089e-23 0.724 False 1 1 1.0000e+00
1 197062298 4960 1 1 1 1 0.582016 G A ASPM stop_gained NM_001206846.1 18.51823348400478 0.536368756486156 0.3334127759089546 2.6089e-23 0.724 False 1 1 1.0000e+00
1 197071813 523815 0 1 1 1 0.582016 G A ASPM stop_gained ENST00000367409 33.185623671389955 0.9612003065635598 0.5974927855891365 3.3502e-49 0.743 True 0.96864 0.724 4.5422e-01
1 197073586 21588 0 1 1 1 0.582016 G A ASPM stop_gained ENST00000367409 33.185623671389955 0.9612003065635598 0.5974927855891365 3.3502e-49 0.743 True 0.96864 0.724 4.5422e-01
1 197074018 380612 0 1 1 1 0.582016 C A ASPM stop_gained ENST00000367409 33.185623671389955 0.9612003065635598 0.5974927855891365 3.3502e-49 0.743 True 0.96864 0.724 4.5422e-01
1 197091119 21582 1 1 1 1 0.582016 C A ASPM stop_gained ENST00000294732 41.476101244999995 1.2013286725156624 0.7467592447152626 2.6089e-23 0.724 False 1 1 1.0000e+00
1 197097765 157797 1 1 1 1 0.582016 G A ASPM stop_gained ENST00000294732 45.404571148942864 1.3151142838209282 0.8174896443983493 2.6089e-23 0.724 False 1 1 1.0000e+00
1 197102478 157795 1 1 1 1 0.582016 A G ASPM splice_donor_variant ENST00000294732 31.806754231807364 0.9212622375622971 0.5726668383483076 2.6089e-23 0.724 False 1 1 1.0000e+00
1 197390534 143167 0 0 1 1 0.783103 C T CRB1 stop_gained ENST00000367399 39.964609660520374 1.0961887264797467 0.7936613976435233 2.0052e-05 0.806 True 1 0.865 9.6062e-02
1 197396856 5736 0 0 1 1 0.783103 A T CRB1 stop_gained ENST00000367397 34.87895577878026 0.9566943963887747 0.6926648609076629 2.0222e-06 0.806 True 1 0.847 1.0783e-01
1 197398590 99888 0 0 1 1 0.783103 T A CRB1 stop_gained ENST00000367397 33.877425415333335 0.9292234338806078 0.6727753638054068 2.0222e-06 0.806 True 1 0.847 1.0783e-01
1 197404165 521051 0 0 1 1 0.783103 G T CRB1 stop_gained ENST00000367397 37.86807615723314 1.0386829379705482 0.7520261177156135 2.0222e-06 0.806 True 1 0.847 1.0783e-01
1 209791389 449050 1 1 1 1 7.894489999999999 G A LAMB3 stop_gained ENST00000356082 41.50937475063308 1.2221033883355745 0.6667270598376854 0.00029262 0.738 True 0.72669 0.686 9.7293e-01
1 209797344 189034 1 1 1 1 7.894489999999999 G A LAMB3 stop_gained&splice_region_variant ENST00000356082 41.17195665235849 1.2121692516817617 0.6613074220341743 2.3136e-15 0.738 True 1 1 8.1318e-01
1 209799066 14539 1 1 1 1 7.894489999999999 G A LAMB3 stop_gained ENST00000356082 28.74974920494445 0.8464392954178319 0.46178088380363047 2.3136e-15 0.738 True 1 1 8.1318e-01
1 209803197 372402 1 1 1 1 7.894489999999999 A C LAMB3 stop_gained ENST00000356082 29.331342190127646 0.863562337190793 0.4711224791266846 2.3136e-15 0.738 True 0.99524 1 8.1318e-01
1 209806480 188846 1 1 1 1 7.894489999999999 T C LAMB3 splice_acceptor_variant ENST00000356082 31.849814696634915 0.9377102568384041 0.5115743958234069 2.3136e-15 0.738 True 0.99524 1 8.1318e-01
1 209823368 14541 1 1 1 1 7.894489999999999 G A LAMB3 stop_gained ENST00000356082 39.97358630638959 1.1768872829918544 0.6420590969952064 0.00041194 0.738 False 1 1 8.4025e-01
1 209961935 458682 1 1 1 1 13.5154 G A IRF6 stop_gained ENST00000367021 63.50521946257466 1.1020858509170453 0.8539799285000257 0.99961 0.132 True 0.52154 0.212 9.3407e-01
1 215808009 620106 1 0 1 1 0.048155199999999995 G T USH2A stop_gained ENST00000307340 32.66236081379012 0.9525285003327308 0.48879347585884053 1.5692e-94 0.857 True 1 1 9.8727e-01
1 215813957 48449 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 22.152465764700604 0.646029694969679 0.33151249542869476 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215814065 177760 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 22.152465764700604 0.646029694969679 0.33151249542869476 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215820957 521389 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 41.45601765510095 1.2089768572426212 0.6203908860239823 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215844316 554236 1 0 1 1 0.048155199999999995 G A USH2A stop_gained&splice_region_variant ENST00000307340 39.12587941378816 1.1410233159410832 0.5855202783328808 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215844625 557745 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 39.12587941378816 1.1410233159410832 0.5855202783328808 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215847632 555195 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 29.88218607711985 0.871450598839909 0.44718805484290913 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215847677 438014 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 29.88218607711985 0.871450598839909 0.44718805484290913 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215848385 48408 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 29.88218607711985 0.871450598839909 0.44718805484290913 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215853720 48390 1 0 1 1 0.048155199999999995 T C USH2A splice_acceptor_variant ENST00000307340 32.83447707096475 0.9575479060414638 0.4913692022148081 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215901574 2357 1 0 1 1 0.048155199999999995 C T USH2A stop_gained ENST00000307340 37.071008257418086 1.081097355533231 0.5547690530711679 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215933128 374674 1 0 1 1 0.048155199999999995 C T USH2A stop_gained ENST00000307340 35.892721100797814 1.0467351088892907 0.537135940813064 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215987248 438033 1 0 1 1 0.048155199999999995 T C USH2A splice_acceptor_variant ENST00000307340 36.317532915964904 1.059123844765783 0.5434932658363598 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215990338 228418 1 0 1 1 0.048155199999999995 C T USH2A splice_donor_variant ENST00000307340 30.03614572358761 0.8759405054941695 0.4494920668268561 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215990440 555916 1 0 1 1 0.048155199999999995 G A USH2A stop_gained NM_206933.2 30.03614572358761 0.8759405054941695 0.4494920668268561 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215990450 48628 1 0 1 1 0.048155199999999995 G T USH2A stop_gained NM_206933.2 30.03614572358761 0.8759405054941695 0.4494920668268561 1.5692e-94 0.857 False 1 1 9.8727e-01
1 215990485 48626 1 0 1 1 0.048155199999999995 C A USH2A stop_gained NM_206933.2 30.03614572358761 0.8759405054941695 0.4494920668268561 1.5692e-94 0.857 False 1 1 9.8727e-01
1 216011332 48624 1 0 1 1 0.048155199999999995 C G USH2A splice_donor_variant ENST00000307340 24.887584154598223 0.7257936236401901 0.37244364649598216 1.5692e-94 0.857 False 1 1 9.8727e-01
1 216011434 557177 1 0 1 1 0.048155199999999995 G T USH2A stop_gained ENST00000307340 24.887584154598223 0.7257936236401901 0.37244364649598216 1.5692e-94 0.857 False 1 1 9.8727e-01
1 216040454 228417 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 25.40254031942945 0.74081122834489 0.3801499851515922 1.5692e-94 0.857 False 1 1 9.8727e-01
1 216061912 553648 1 0 1 1 0.048155199999999995 C T USH2A stop_gained ENST00000307340 33.98269627767358 0.9910332846782044 0.5085523464552003 1.5692e-94 0.857 True 1 1 9.8727e-01
1 216144062 96666 1 0 1 1 0.048155199999999995 C A USH2A stop_gained ENST00000307340 32.39459268295365 0.9447196105357974 0.48478631556378543 1.5692e-94 0.857 False 1 1 9.8727e-01
1 216219874 48554 1 0 1 1 0.048155199999999995 C T USH2A stop_gained ENST00000307340 30.222782368708074 0.8813833675302986 0.4522850913424799 1.5692e-94 0.857 False 1 1 9.8727e-01
1 216246252 265287 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 33.6815019145625 0.982249589689392 0.5040449613187286 1.5692e-94 0.857 True 1 1 9.8727e-01
1 216246438 228414 1 0 1 1 0.048155199999999995 C T USH2A splice_donor_variant ENST00000307340 27.46002255259606 0.8008133352713434 0.4109402852771948 1.5692e-94 0.857 True 1 1 9.8727e-01
1 216251604 556449 1 0 1 1 0.048155199999999995 C T USH2A stop_gained ENST00000307340 36.079711498538465 1.0521882873705388 0.5399342592501468 1.5692e-94 0.857 True 1 1 9.8727e-01
1 216260091 488733 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 66.8224156560198 1.9487340714993773 1.0 1.5692e-94 0.857 True 1 1 9.8727e-01
1 216260115 863680 1 0 1 1 0.048155199999999995 C A USH2A stop_gained ENST00000307340 66.8224156560198 1.9487340714993773 1.0 1.5692e-94 0.857 True 1 1 9.8727e-01
1 216270538 504513 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 42.39090612333078 1.2362408972089345 0.6343815276230879 1.5692e-94 0.857 False 1 1 9.8727e-01
1 216369924 438021 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 35.79572406964238 1.0439063961348776 0.5356843765407584 3.4074e-24 0.857 True 1 1 9.8727e-01
1 216371855 556829 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 29.101087057245262 0.8486715020607692 0.4354988782065026 3.4074e-24 0.857 True 1 1 9.8727e-01
1 216380622 48499 1 0 1 1 0.048155199999999995 G T USH2A stop_gained ENST00000307340 45.21792660269427 1.3186849554621 0.6766879969658915 3.4074e-24 0.857 True 1 1 9.8727e-01
1 216419926 801616 1 0 1 1 0.048155199999999995 C T USH2A splice_donor_variant ENST00000307340 32.65327756545399 0.9522636066538847 0.4886575447009056 3.4074e-24 0.857 False 1 1 9.8727e-01
1 216420126 557167 1 0 1 1 0.048155199999999995 G T USH2A stop_gained ENST00000307340 32.65327756545399 0.9522636066538847 0.4886575447009056 3.4074e-24 0.857 False 1 1 9.8727e-01
1 216420527 2361 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 32.65327756545399 0.9522636066538847 0.4886575447009056 3.4074e-24 0.857 False 1 1 9.8727e-01
1 216420569 556842 1 0 1 1 0.048155199999999995 C G USH2A splice_acceptor_variant ENST00000307340 32.65327756545399 0.9522636066538847 0.4886575447009056 3.4074e-24 0.857 False 1 1 9.8727e-01
1 216462717 497414 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 36.46771531152001 1.063503595905942 0.5457407511162725 3.4074e-24 0.857 False 1 1 9.8727e-01
1 216462754 48476 1 0 1 1 0.048155199999999995 T C USH2A splice_acceptor_variant ENST00000307340 36.46771531152001 1.063503595905942 0.5457407511162725 3.4074e-24 0.857 False 1 1 9.8727e-01
1 216497611 379205 1 0 1 1 0.048155199999999995 C T USH2A stop_gained ENST00000307340 34.070943518586944 0.9936068283520657 0.5098729697826722 3.4074e-24 0.857 False 1 1 9.8727e-01
1 216500961 48595 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 48.343493296253975 1.4098354810557485 0.723462221795612 3.4074e-24 0.857 False 1 1 9.8727e-01
1 216595492 556744 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 38.74994875498525 1.1300600953490356 0.5798944616797073 3.4074e-24 0.857 False 1 1 9.8727e-01
1 216595579 438000 1 0 1 1 0.048155199999999995 G A USH2A stop_gained ENST00000307340 38.74994875498525 1.1300600953490356 0.5798944616797073 3.4074e-24 0.857 False 1 1 9.8727e-01
1 218607496 213841 1 1 1 1 2.57294 G T TGFB2 stop_gained ENST00000366929 46.325140911333335 0.8167455293134648 0.6376972151887436 0.99905 0.148 True 1 1 8.2090e-01
1 226108909 254247 1 1 1 1 17.244181 G A PYCR2 stop_gained&splice_region_variant ENST00000343818 34.865179482546004 1.032752824386816 0.710701970263967 2.0652e-06 1 True 1 1 7.8490e-01
1 227170697 242458 1 1 1 1 42.7912 C T ADCK3 stop_gained ENST00000366777 24.47562256867857 0.8135174832612242 0.4672185026036492 2.5015e-08 1 True 1 1 5.3313e-01
1 241661271 214387 1 1 1 1 41.4414 C G FH splice_acceptor_variant ENST00000366560 43.02540217605755 0.9790040899846545 0.7755109410322629 0.08824 0.544 False 1 1 9.7212e-01
1 241661272 214423 1 1 1 1 41.4414 T A FH splice_acceptor_variant ENST00000366560 43.02540217605755 0.9790040899846545 0.7755109410322629 0.08824 0.544 False 1 1 9.7212e-01
1 241663788 214386 1 1 1 1 41.4414 T A FH stop_gained ENST00000366560 53.37154427448366 1.214421190526205 0.961994878171817 0.08824 0.544 False 1 1 9.7212e-01
1 241665853 92448 1 1 1 1 41.4414 G A FH stop_gained ENST00000366560 48.16073837525196 1.0958540178920166 0.868072758166664 0.08824 0.544 False 1 1 9.7212e-01
1 241667387 393577 1 1 1 1 41.4414 C A FH stop_gained ENST00000366560 52.34090846075862 1.1909700052753915 0.9434181930198016 0.08824 0.544 False 1 1 9.7212e-01
1 241667398 429168 1 1 1 1 41.4414 G C FH stop_gained ENST00000366560 52.34090846075862 1.1909700052753915 0.9434181930198016 0.08824 0.544 False 1 1 9.7212e-01
1 241667423 16235 1 1 1 1 41.4414 G A FH stop_gained ENST00000366560 52.34090846075862 1.1909700052753915 0.9434181930198016 0.08824 0.544 False 1 1 9.7212e-01
1 241667546 208374 1 1 1 1 41.4414 C T FH splice_acceptor_variant ENST00000366560 52.34090846075862 1.1909700052753915 0.9434181930198016 0.08824 0.544 False 1 1 9.7212e-01
1 241669447 92457 1 1 1 1 41.4414 G A FH stop_gained ENST00000366560 55.480071137084835 1.2623988111393079 1.0 0.08824 0.544 False 1 1 9.7212e-01
1 241669468 429182 1 1 1 1 41.4414 C A FH stop_gained&splice_region_variant ENST00000366560 55.480071137084835 1.2623988111393079 1.0 0.08824 0.544 False 1 1 9.7212e-01
1 241671899 393570 1 1 1 1 41.4414 ATACCTGCCCAAGAGTAAGTG A FH splice_donor_variant&coding_sequence_variant&intron_variant ENST00000366560 NA NA NA NA NA NA NA NA NaN
1 241672081 92456 1 1 1 1 41.4414 G C FH stop_gained ENST00000366560 32.988521610566664 0.7506239557538339 0.5946012853706666 0.08824 0.544 True 1 1 9.7212e-01
1 241676980 16232 1 1 1 1 41.4414 G A FH stop_gained ENST00000366560 49.932522786018176 1.1361693687541272 0.9000082689627541 0.08824 0.544 True 1 1 9.7212e-01
1 241680481 237112 1 1 1 1 41.4414 C G FH splice_donor_variant ENST00000366560 31.311735770388065 0.712470211394956 0.5643780753817058 0.08824 0.544 True 1 1 9.7212e-01
1 241680545 405883 1 1 1 1 41.4414 A T FH stop_gained ENST00000366560 31.311735770388065 0.712470211394956 0.5643780753817058 0.08824 0.544 True 1 1 9.7212e-01
1 241680571 429185 1 1 1 1 41.4414 G GTTCA FH stop_gained&frameshift_variant ENST00000366560 31.311735770388065 0.712470211394956 0.5643780753817058 NA NA NA NA NA 9.7212e-01
1 241680610 214389 1 1 1 1 41.4414 G A FH stop_gained ENST00000366560 31.311735770388065 0.712470211394956 0.5643780753817058 0.08824 0.544 True 1 1 9.7212e-01
1 243434278 212139 0 0 1 1 12.5071 A G SDCCAG8 splice_acceptor_variant ENST00000355875 31.409141090170728 0.8485490731177682 0.6544143744535807 1.249e-08 0.784 True 0.97319 0.807 2.4958e-01
1 247587529 4374 1 0 1 1 0.966756 C T NLRP3 stop_gained ENST00000336119 56.953104168408075 1.0881696678161257 0.9597963991344801 0.0036925 0.516 True 1 1 7.1111e-01
2 16085941 545970 1 1 1 1 0.849458 C T MYCN stop_gained ENST00000281043 44.639692613811754 0.9261148904445845 0.8548079466525149 0.88897 0.412 True 1 1 1.0000e+00
2 21260958 404400 1 1 1 1 4.54611 C A APOB stop_gained ENST00000233242 26.966905802660133 0.7217833071995694 0.4434590596449391 0.22913 0.413 False 1 1 1.0000e+00
2 26437359 8737 1 1 1 1 81.9059 G A HADHA stop_gained ENST00000380649 35.43284640527966 0.9129745204171088 0.6264505467689472 0.00085699 0.621 True 1 1 9.7747e-01
2 26492866 431987 1 1 1 1 97.9881 G A HADHB splice_donor_variant ENST00000317799 34.82266858127272 0.9970041936952093 0.6059202570849445 1.2511e-06 1 True 0.856 0.995 9.6101e-01
2 26689599 65804 1 1 1 1 0.231554 G A OTOF stop_gained ENST00000272371 27.75801014440146 0.825067856791845 0.4501167607259092 1.3586e-23 0.875 True 1 1 9.9256e-01
2 26700078 6137 1 1 1 1 0.231554 G A OTOF stop_gained ENST00000272371 35.67421081696551 1.0603658010201675 0.5784838369483907 1.3586e-23 0.875 True 0.91144 1 9.9256e-01
2 26700593 65787 0 1 1 1 0.231554 C A OTOF stop_gained ENST00000272371 NA NA NA 9.0408e-26 0.875 True 0.91144 0.904 8.9276e-02
2 26702224 21831 0 1 1 1 0.231554 G A OTOF stop_gained ENST00000272371 32.6110251654 0.9693169107234533 0.5288120054369795 5.3804e-39 0.875 True 0.98317 0.904 6.1661e-02
2 29293524 839525 1 1 1 1 0.0751168 G A C2orf71 stop_gained ENST00000331664 26.750132261907275 1.0066381854767692 1.0 3.0058e-18 1 False 1 1 9.5691e-01
2 29294126 438048 1 1 1 1 0.0751168 C T C2orf71 stop_gained ENST00000331664 26.750132261907275 1.0066381854767692 1.0 3.0058e-18 1 False 1 1 9.5691e-01
2 31805954 436859 G A SRD5A2 stop_gained NM_000348.3 NA NA NA 0 1 True 1 1 NaN
2 32314596 265647 1 1 1 1 2.90348 C T SPAST stop_gained ENST00000315285 44.61379443820482 0.7934774857851431 0.45537902332072955 0.99939 0.224 True 1 1 1.0000e+00
2 32339758 448453 1 1 1 1 2.90348 C G SPAST stop_gained ENST00000315285 41.178247619101604 0.7323746567914104 0.4203119330909837 0.99939 0.224 False 1 1 1.0000e+00
2 32339862 448456 1 1 1 1 2.90348 C T SPAST stop_gained ENST00000315285 41.178247619101604 0.7323746567914104 0.4203119330909837 0.99939 0.224 False 1 1 1.0000e+00
2 32339895 523508 1 1 1 1 2.90348 G A SPAST splice_donor_variant ENST00000315285 41.178247619101604 0.7323746567914104 0.4203119330909837 0.99939 0.224 False 1 1 1.0000e+00
2 32341222 523507 1 1 1 1 2.90348 C T SPAST stop_gained ENST00000315285 74.404671716 1.323322362227126 0.7594585298827802 0.99939 0.224 False 1 1 1.0000e+00
2 32352092 409030 1 1 1 1 2.90348 G A SPAST splice_donor_variant ENST00000315285 97.9706840971081 1.7424550652309827 1.0 0.99939 0.224 False 1 1 1.0000e+00
2 32353549 226113 1 1 1 1 2.90348 G A SPAST splice_donor_variant ENST00000315285 76.50681031005635 1.3607098937605429 0.7809153423306011 0.99939 0.224 False 1 1 1.0000e+00
2 32361677 188179 1 1 1 1 2.90348 C T SPAST stop_gained ENST00000315285 96.57448928184 1.7176230784960351 0.9857488510146137 0.99939 0.224 False 1 1 1.0000e+00
2 32362038 431996 1 1 1 1 2.90348 G T SPAST splice_donor_variant ENST00000315285 85.57995852814285 1.522080136460144 0.8735261911952802 0.99939 0.224 False 1 1 1.0000e+00
2 32362255 568108 1 1 1 1 2.90348 CAGGT C SPAST splice_donor_variant&coding_sequence_variant ENST00000315285 70.08341821156962 1.2464668199153204 0.7153509119330355 NA NA NA NA NA 1.0000e+00
2 32366971 468568 1 1 1 1 2.90348 A C SPAST splice_acceptor_variant ENST00000315285 65.4145167305 1.1634281935167288 0.6676948041483657 0.99939 0.224 False 1 1 1.0000e+00
2 32370073 448449 1 1 1 1 2.90348 C T SPAST stop_gained ENST00000315285 77.28040173588572 1.3744685840338449 0.7888114944597685 0.99939 0.224 False 1 1 1.0000e+00
2 32372285 5661 1 1 1 1 2.90348 A G SPAST splice_acceptor_variant ENST00000315285 44.21986096965 0.7864711922803739 0.45135809122062953 0.99939 0.224 False 1 1 1.0000e+00
2 32379442 419590 1 1 1 1 2.90348 G A SPAST splice_acceptor_variant ENST00000315285 46.829876693672276 0.8328915593582166 0.47799887410457104 0.99939 0.224 False 1 1 1.0000e+00
2 38302361 7737 1 1 1 1 10.9412 C T CYP1B1 stop_gained ENST00000260630 29.609099151881964 1.0589631361812095 1.0 2.2024e-05 1 True 1 1 9.7527e-01
2 42996925 403728 1 1 1 1 8.01915 C T HAAO stop_gained ENST00000294973 25.86433524844898 0.7901211431500303 0.4664589420917301 1.6864e-07 1 True 1 1 7.3209e-01
2 44050063 30485 1 1 1 1 0.369471 G A ABCG5 stop_gained ENST00000260645 20.935981878595587 0.6808367478857739 0.33665738958409347 1.6348e-11 1 True 1 1 5.2304e-01
2 44099233 4967 1 1 1 1 0.459085 G A ABCG8 stop_gained ENST00000272286 15.192852969376547 0.6590414209043639 0.42795179348105716 2.3838e-20 1 False 1 1 1.0000e+00
2 44513213 336195 1 0 1 1 1.00601 C T SLC3A1 stop_gained ENST00000260649 18.844258014872 0.9846792154464623 0.5569048496880571 4.0907e-06 1 True 1 1 8.5382e-01
2 44539893 284275 1 1 1 1 1.00601 G T SLC3A1 splice_donor_variant ENST00000260649 21.131438319268295 1.1041924860639705 0.6244979490090311 1.3015e-05 1 True 1 0.865 2.5962e-03
2 47177603 284147 1 1 1 1 6.33721 G T TTC7A stop_gained ENST00000319190 33.89121335054795 1.2616029182120054 0.7519362290154377 0.0022687 1 True 1 1 4.1669e-01
2 47630400 127652 0 1 1 1 3.4889699999999997 C T MSH2 stop_gained ENST00000233146 32.357106467212766 1.0173849046838603 0.37169942547235557 0.9553 0.321 True 1 0.288 4.4353e-01
2 47630528 645593 0 1 1 1 3.4889699999999997 C A MSH2 stop_gained ENST00000233146 87.05180651300002 2.737117237646972 1.0 0.9553 0.321 True 1 0.288 4.4353e-01
2 47630542 428559 1 1 1 1 3.4889699999999997 G T MSH2 splice_donor_variant ENST00000233146 87.05180651300002 2.737117237646972 1.0 0.99284 0.288 False 1 1 9.9821e-01
2 47635678 408504 1 1 1 1 3.4889699999999997 G A MSH2 stop_gained ENST00000233146 23.728159662233768 0.7460701555853487 0.27257515510249963 0.99284 0.288 False 1 1 9.9821e-01
2 47637254 408452 1 1 1 1 3.4889699999999997 C T MSH2 stop_gained ENST00000233146 28.690260426079128 0.9020904850845886 0.3295768528570929 0.99284 0.288 False 1 1 9.9821e-01
2 47639655 219627 1 1 1 1 3.4889699999999997 G T MSH2 stop_gained ENST00000233146 37.80922670666667 1.1888126198215658 0.43433017901840293 0.99284 0.288 True 1 0.91 9.9821e-01
2 47639697 237408 1 1 1 1 3.4889699999999997 C T MSH2 stop_gained&splice_region_variant ENST00000233146 37.80922670666667 1.1888126198215658 0.43433017901840293 0.99284 0.288 True 1 0.91 9.9821e-01
2 47641445 408494 1 1 1 1 3.4889699999999997 T A MSH2 stop_gained ENST00000233146 29.719875324691277 0.9344640428545654 0.34140446379194916 0.99284 0.288 True 1 0.91 9.9821e-01
2 47641447 641057 1 1 1 1 3.4889699999999997 G T MSH2 stop_gained ENST00000233146 29.719875324691277 0.9344640428545654 0.34140446379194916 0.99284 0.288 True 1 0.91 9.9821e-01
2 47641457 219909 1 1 1 1 3.4889699999999997 C G MSH2 stop_gained ENST00000233146 29.719875324691277 0.9344640428545654 0.34140446379194916 0.99284 0.288 True 1 0.91 9.9821e-01
2 47641512 246110 1 1 1 1 3.4889699999999997 T G MSH2 stop_gained ENST00000233146 29.719875324691277 0.9344640428545654 0.34140446379194916 0.99284 0.288 True 1 0.91 9.9821e-01
2 47641555 428507 1 1 1 1 3.4889699999999997 C T MSH2 stop_gained&splice_region_variant ENST00000233146 29.719875324691277 0.9344640428545654 0.34140446379194916 0.99284 0.288 True 1 0.91 9.9821e-01
2 47643434 408461 1 1 1 1 3.4889699999999997 G T MSH2 splice_acceptor_variant ENST00000233146 31.210704009114504 0.9813392664020973 0.3585302276806123 0.99284 0.288 False 1 1 9.9821e-01
2 47643534 428496 1 1 1 1 3.4889699999999997 C T MSH2 stop_gained ENST00000233146 31.210704009114504 0.9813392664020973 0.3585302276806123 0.99284 0.288 False 1 1 9.9821e-01
2 47672761 183761 1 1 1 1 3.4889699999999997 C T MSH2 stop_gained ENST00000233146 29.116250360908246 0.9154846286456503 0.3344703749089931 0.99284 0.288 False 1 1 9.9821e-01
2 47672794 228365 1 1 1 1 3.4889699999999997 C T MSH2 stop_gained&splice_region_variant ENST00000233146 29.116250360908246 0.9154846286456503 0.3344703749089931 0.99284 0.288 False 1 1 9.9821e-01
2 47693849 220417 1 1 1 1 3.4889699999999997 T A MSH2 stop_gained ENST00000233146 47.89117185055333 1.505813115821868 0.5501456404974367 0.99284 0.288 False 1 1 9.9821e-01
2 47698126 428466 1 1 1 1 3.4889699999999997 G T MSH2 stop_gained ENST00000233146 31.885686622453612 1.0025623359751175 0.3662840313106186 0.99284 0.288 False 1 1 9.9821e-01
2 47698199 428519 1 1 1 1 3.4889699999999997 C G MSH2 stop_gained&splice_region_variant ENST00000233146 31.885686622453612 1.0025623359751175 0.3662840313106186 0.99284 0.288 False 1 1 9.9821e-01
2 47702305 428455 1 1 1 1 3.4889699999999997 T G MSH2 stop_gained ENST00000233146 25.883110610036734 0.8138269732986531 0.2973299653025746 0.99284 0.288 False 1 1 9.9821e-01
2 47702337 428446 1 1 1 1 3.4889699999999997 C T MSH2 stop_gained ENST00000233146 25.883110610036734 0.8138269732986531 0.2973299653025746 0.99284 0.288 False 1 1 9.9821e-01
2 47702372 419473 1 1 1 1 3.4889699999999997 C A MSH2 stop_gained ENST00000233146 25.883110610036734 0.8138269732986531 0.2973299653025746 0.99284 0.288 False 1 1 9.9821e-01
2 47702388 188516 1 1 1 1 3.4889699999999997 C T MSH2 stop_gained ENST00000233146 25.883110610036734 0.8138269732986531 0.2973299653025746 0.99284 0.288 False 1 1 9.9821e-01
2 47703527 379791 1 1 1 1 3.4889699999999997 C G MSH2 stop_gained ENST00000233146 38.10453982051472 1.1980979712323487 0.43772256253894415 0.99284 0.288 True 1 1 9.9821e-01
2 47703541 428498 1 1 1 1 3.4889699999999997 C T MSH2 stop_gained ENST00000233146 38.10453982051472 1.1980979712323487 0.43772256253894415 0.99284 0.288 True 1 1 9.9821e-01
2 47705500 218045 1 1 1 1 3.4889699999999997 C G MSH2 stop_gained ENST00000233146 42.477433315999996 1.335592213389169 0.48795579342350076 0.99284 0.288 True 1 1 9.9821e-01
2 47707833 419555 1 1 1 1 3.4889699999999997 A G MSH2 splice_acceptor_variant ENST00000233146 22.576197295043215 0.7098497004488202 0.2593420883422076 0.99284 0.288 True 1 1 9.9821e-01
2 47708012 233647 1 1 1 1 3.4889699999999997 T G MSH2 splice_donor_variant ENST00000233146 22.576197295043215 0.7098497004488202 0.2593420883422076 0.99284 0.288 False 1 1 9.9821e-01
2 47709939 433904 1 1 1 1 3.4889699999999997 G T MSH2 stop_gained ENST00000233146 34.57263180641317 1.087046326304829 0.3971500786861926 0.99284 0.288 True 1 0.321 9.7327e-01
2 48010592 480915 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 10.404323492273221 0.35738089696011094 0.17898820155726813 7.9238e-05 0.498 True 0.61071 0.521 8.6974e-01
2 48018182 428286 0 0 1 1 5.08659 C G MSH6 stop_gained ENST00000234420 58.12854367914473 1.9966729306778648 1.0 0.47302 0.498 True 0.19469 0.519 4.7340e-01
2 48023053 428293 0 0 1 1 5.08659 C T MSH6 stop_gained ENST00000234420 18.683360993764705 0.6417597756490285 0.32141457210578445 0.46845 0.498 True 0.19469 0.519 4.7253e-01
2 48023174 234621 0 0 1 1 5.08659 C G MSH6 stop_gained ENST00000234420 NA NA NA 0.46845 0.498 True 0.19469 0.519 4.7253e-01
2 48026023 822901 1 1 1 1 5.08659 A T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 7.9238e-05 0.498 True 0.19469 0.521 8.6974e-01
2 48026111 186304 1 1 1 1 5.08659 C A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026134 428445 1 1 1 1 5.08659 A T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026360 183736 1 1 1 1 5.08659 G A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026363 127558 1 1 1 1 5.08659 G A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026365 428378 1 1 1 1 5.08659 C T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026421 428379 1 1 1 1 5.08659 T G MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026489 132710 1 1 1 1 5.08659 G A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026490 819019 1 1 1 1 5.08659 G A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026509 220241 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026529 140972 1 1 1 1 5.08659 T A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026692 433910 1 1 1 1 5.08659 T TA MSH6 stop_gained&frameshift_variant ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 NA NA NA NA NA 9.0058e-01
2 48026694 410426 1 1 1 1 5.08659 C A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026813 545983 1 1 1 1 5.08659 C G MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026836 421621 1 1 1 1 5.08659 C T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026911 449670 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026917 439911 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026927 182659 1 1 1 1 5.08659 C G MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48026998 491886 1 1 1 1 5.08659 C T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48027023 619873 1 1 1 1 5.08659 T A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48027043 546003 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48027055 422153 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48027091 428316 1 1 1 1 5.08659 C T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48027244 422730 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48027541 505828 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48027672 410471 1 1 1 1 5.08659 C G MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48027766 233770 1 1 1 1 5.08659 TTTAAGTCTA T MSH6 stop_gained&inframe_deletion ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 NA NA NA NA NA 9.0058e-01
2 48027775 142620 1 1 1 1 5.08659 A T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48027857 410398 1 1 1 1 5.08659 G A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48028032 428412 1 1 1 1 5.08659 G A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48028053 483782 1 1 1 1 5.08659 C A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48028054 140922 1 1 1 1 5.08659 C T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48028111 421152 1 1 1 1 5.08659 A T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48028186 428333 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48028205 421754 1 1 1 1 5.08659 C G MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48028262 420123 1 1 1 1 5.08659 G A MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48028264 127580 1 1 1 1 5.08659 C T MSH6 stop_gained ENST00000234420 29.581947602618097 1.016118248908925 0.5089057067368344 0.00076025 0.498 True 0.19469 0.826 9.0058e-01
2 48032059 372413 1 1 1 1 5.08659 T A MSH6 stop_gained ENST00000234420 17.335461632410254 0.5954604191237765 0.2982263193810212 0.00076025 0.498 True 0.19469 0.097 9.0058e-01
2 48032085 141918 1 1 1 1 5.08659 T TA MSH6 stop_gained&frameshift_variant ENST00000234420 17.335461632410254 0.5954604191237765 0.2982263193810212 NA NA NA NA NA 9.0058e-01
2 48032087 237193 1 1 1 1 5.08659 C G MSH6 stop_gained ENST00000234420 17.335461632410254 0.5954604191237765 0.2982263193810212 0.00076025 0.498 True 0.19469 0.097 9.0058e-01
2 48032136 220223 1 1 1 1 5.08659 A T MSH6 stop_gained ENST00000234420 17.335461632410254 0.5954604191237765 0.2982263193810212 0.00076025 0.498 True 0.19469 0.097 9.0058e-01
2 48032167 646634 1 1 1 1 5.08659 G T MSH6 splice_donor_variant ENST00000234420 17.335461632410254 0.5954604191237765 0.2982263193810212 0.00076025 0.498 True 0.19469 0.097 9.0058e-01
2 48033341 422205 1 1 1 1 5.08659 AG A MSH6 splice_acceptor_variant ENST00000234420 14.798730939357144 0.5083255764689093 0.25458630137101834 NA NA NA NA NA 9.0058e-01
2 48033681 455300 1 1 1 1 5.08659 T TA MSH6 stop_gained&frameshift_variant ENST00000234420 25.47909217424121 0.8751881678536861 0.43832324984571325 NA NA NA NA NA 9.0058e-01
2 48033753 433932 1 1 1 1 5.08659 G T MSH6 stop_gained ENST00000234420 25.47909217424121 0.8751881678536861 0.43832324984571325 0.00076025 0.498 True 0.19469 0.097 9.0058e-01
2 60773104 521857 0 0 1 1 3.2355 A G BCL11A splice_donor_variant ENST00000335712 47.2681611722614 0.8241113684565048 0.5626237726501472 0.99965 0.131 False 1 1 2.2343e-01
2 62066572 38 1 0 1 1 0.709807 G A FAM161A stop_gained&NMD_transcript_variant ENST00000418113 30.357432985172505 0.9469222392558314 0.349889183148598 5.4332e-09 0.885 True 1 1 4.9833e-01
2 62066830 36 1 0 1 1 0.709807 T A FAM161A stop_gained&NMD_transcript_variant ENST00000418113 30.357432985172505 0.9469222392558314 0.349889183148598 5.4332e-09 0.885 True 1 1 4.9833e-01
2 62067454 35 1 0 1 1 0.709807 G A FAM161A stop_gained&NMD_transcript_variant ENST00000418113 30.357432985172505 0.9469222392558314 0.349889183148598 5.4332e-09 0.885 True 1 1 4.9833e-01
2 69581446 540353 0 0 1 1 8.91423 T C GFPT1 splice_acceptor_variant ENST00000357308 72.03222388762264 1.0040662157253457 0.7387966973762488 0.89953 0.338 True 0.36982 0.292 6.4700e-02
2 71185529 521461 1 1 1 1 3.4233599999999997 C T ATP6V1B1 stop_gained ENST00000234396 37.85459562658065 1.2101739399024911 0.5048732800237458 5.0994e-08 0.948 True 0.70055 1 6.4385e-01
2 71188824 179259 1 1 1 1 3.4233599999999997 G A ATP6V1B1 splice_donor_variant ENST00000234396 NA NA NA 2.3997e-09 0.948 True 0.70055 1 6.4385e-01
2 71191673 555327 1 1 1 1 3.4233599999999997 G C ATP6V1B1 splice_donor_variant ENST00000234396 24.112346417115383 0.7708478397641264 0.3215905287898459 0.10912 0.948 True 0.70055 1 6.4518e-01
2 71351575 2343 1 1 1 1 11.259 G A MCEE stop_gained ENST00000244217 34.982332162000006 0.9649618457340925 0.8390840067326727 0.19178 1 True 0.82434 1 7.6274e-01
2 71709020 283497 0 0 1 1 12.6171 G A DYSF stop_gained ENST00000258104 35.3405945154945 1.0614806837359545 0.5735974932853196 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71730372 197217 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 28.491654516809522 0.8557677461824212 0.46243539007891027 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71730438 265108 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 28.491654516809522 0.8557677461824212 0.46243539007891027 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71740998 94352 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 22.5756852084439 0.6780772677822451 0.36641591977419785 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71747339 94367 0 0 1 1 12.6171 G A DYSF splice_donor_variant ENST00000258104 32.5870055422 0.9787746187652889 0.5289052136484466 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71755533 94266 0 0 1 1 12.6171 T C DYSF splice_donor_variant ENST00000258104 22.21637862731068 0.6672852310143037 0.36058417423951045 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71762412 94269 0 0 1 1 12.6171 C A DYSF stop_gained ENST00000258104 22.699513718883722 0.6817965479395168 0.3684257253295174 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71766369 290700 0 0 1 1 12.6171 G T DYSF stop_gained&splice_region_variant ENST00000258104 23.57839927313415 0.7081945203517346 0.38269052640924167 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71776479 94274 0 0 1 1 12.6171 G A DYSF splice_acceptor_variant ENST00000258104 45.04985468509756 1.3531054360836248 0.7311841827932617 2.761e-35 0.761 True 0.99689 0.726 6.1227e-02
2 71778170 285177 0 0 1 1 12.6171 G A DYSF splice_acceptor_variant ENST00000258104 34.69435777146956 1.0420704890205787 0.5631087117149062 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71780222 217223 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 38.286479403683614 1.1499624975874847 0.6214108425098647 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71788881 290204 0 0 1 1 12.6171 G T DYSF splice_acceptor_variant ENST00000258104 28.2005649865625 0.8470246585849697 0.45771084519899635 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71797466 284804 0 0 1 1 12.6171 T C DYSF splice_donor_variant ENST00000258104 28.10421054940952 0.8441305823750944 0.45614695912476416 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71797809 217225 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 18.85768292261972 0.5664043414324017 0.30607067599956866 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71816721 196694 1 1 1 1 12.6171 A G DYSF splice_acceptor_variant ENST00000258104 30.398694298206518 0.913047085107561 0.4933877057714239 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71817342 94305 0 0 1 1 12.6171 TG AA DYSF stop_gained&splice_region_variant ENST00000258104 19.027796356155843 0.5715138232115898 0.3088317115845161 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71817376 281063 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 19.027796356155843 0.5715138232115898 0.3088317115845161 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71827961 167025 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 23.3406222641295 0.7010527134422813 0.37883127338320244 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71839902 285584 0 0 1 1 12.6171 C G DYSF stop_gained ENST00000258104 30.510450467412127 0.9164037636390462 0.49520157051802294 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71871118 197433 0 0 1 1 12.6171 G A DYSF stop_gained ENST00000258104 54.806243557622444 1.6461457335993064 0.8895357973464204 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71886125 94330 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 36.85912643828387 1.1070909041008277 0.5982441104780166 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71892435 538631 1 1 1 1 12.6171 G A DYSF splice_donor_variant ENST00000258104 27.16035879822535 0.815781302575823 0.44082772055692304 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71894571 167026 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 27.330826669325752 0.8209014301472858 0.4435945088605552 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71896338 167030 1 1 1 1 12.6171 G A DYSF splice_donor_variant ENST00000258104 61.61218437876843 1.8505671593093092 1.0 1.8194e-32 0.726 False 1 1 1.8822e-01
2 71896738 288647 0 0 1 1 12.6171 G A DYSF stop_gained ENST00000258104 41.324140510482266 1.2412008774961492 0.6707137707768493 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71901372 6676 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 46.240859558858574 1.3888781412422326 0.7505148539221924 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71906240 501036 0 0 1 1 12.6171 A T DYSF stop_gained ENST00000258104 38.11646746153371 1.1448560641765404 0.6186514541865302 1.8194e-32 0.726 True 1 1 1.8822e-01
2 71906303 419655 0 0 1 1 12.6171 C T DYSF stop_gained ENST00000258104 38.11646746153371 1.1448560641765404 0.6186514541865302 1.8194e-32 0.726 True 1 1 1.8822e-01
2 73118535 235551 1 1 1 1 17.2064 C T SPR stop_gained ENST00000234454 38.449695379925146 1.1047370577613134 1.0 0.0434 1 True 1 1 9.8836e-01
2 73651844 459845 0 0 1 1 2.88725 C T ALMS1 stop_gained NM_015120.4 36.01139995797036 1.1024725185336657 0.6132488380998197 9.6345e-33 0.868 True 1 1 1.6112e-01
2 73676473 224801 0 0 1 1 2.88725 T A ALMS1 stop_gained NM_015120.4 34.23114692845394 1.0479708872899807 0.5829323798907853 9.6345e-33 0.868 True 1 1 1.6112e-01
2 73678796 212728 0 0 1 1 2.88725 T G ALMS1 stop_gained NM_015120.4 34.23114692845394 1.0479708872899807 0.5829323798907853 9.6345e-33 0.868 True 1 1 1.6112e-01
2 73680087 210129 0 0 1 1 2.88725 C T ALMS1 stop_gained&NMD_transcript_variant ENST00000423048 34.41780793915186 1.0536854286523367 0.586111085746782 9.6345e-33 0.868 True 1 1 1.6112e-01
2 73717091 529386 0 0 1 1 2.88725 C T ALMS1 stop_gained&NMD_transcript_variant ENST00000423048 24.64787885457253 0.7545835238015777 0.419736058215817 5.2927e-58 0.868 True 1 1 1.6112e-01
2 73799484 210122 0 0 1 1 2.88725 C T ALMS1 stop_gained ENST00000264448 26.974995727000902 0.8258271411633753 0.4593652234191911 5.2927e-58 0.868 True 1 1 1.6112e-01
2 73799886 434136 0 0 1 1 2.88725 C T ALMS1 stop_gained ENST00000264448 26.974995727000902 0.8258271411633753 0.4593652234191911 5.2927e-58 0.868 True 1 1 1.6112e-01
2 73800450 620477 0 0 1 1 2.88725 C T ALMS1 stop_gained ENST00000264448 26.974995727000902 0.8258271411633753 0.4593652234191911 5.2927e-58 0.868 True 1 1 1.6112e-01
2 74166089 449312 0 0 1 1 26.1825 G A DGUOK stop_gained ENST00000264093 38.438664811532114 1.2034686972694666 0.6176385158128515 3.633e-06 1 True 1 1 3.2470e-01
2 74174034 393268 1 1 1 1 26.1825 G A DGUOK splice_donor_variant ENST00000264093 30.231430113117646 0.9465099787730233 0.4857633769933666 3.633e-06 1 True 1 1 3.9599e-01
2 74691832 127098 1 0 1 1 12.6529 G A MOGS stop_gained ENST00000233616 24.58813992606636 0.6900823780786255 0.2563497406493225 0.028885 0.957 True 0.67083 0.883 5.5588e-01
2 86071665 5556 1 1 1 1 11.274000000000001 G A ST3GAL5 stop_gained ENST00000377332 43.085440608854434 1.0906698462587785 0.7198227748145702 0.0013115 0.756 True 0.87202 1 7.4967e-01
2 96919794 463849 1 1 1 1 15.5206 G A TMEM127 stop_gained ENST00000258439 35.61106329692409 0.957457428240501 0.8034524090248996 0.019525 1 False 1 1 1.0000e+00
2 99779295 285871 1 1 1 1 2.83766 C G LIPT1 stop_gained ENST00000340066 34.94484943851233 1.0 1.0 3.8254e-08 1 True 0.78572 1 9.0289e-01
2 109513589 265115 1 1 1 1 0.242835 C T EDAR stop_gained ENST00000258443 49.57290901454546 1.2785356240548849 0.8161031455342675 5.6173e-06 0.875 False 1 1 1.0000e+00
2 109513638 5852 1 1 1 1 0.242835 G A EDAR stop_gained ENST00000258443 49.57290901454546 1.2785356240548849 0.8161031455342675 5.6173e-06 0.875 False 1 1 1.0000e+00
2 109524376 449014 1 1 1 1 0.242835 G T EDAR stop_gained ENST00000258443 35.62031861322012 0.9186841602098544 0.5864060561112565 5.6173e-06 0.875 False 1 1 1.0000e+00
2 112777089 866075 1 1 1 1 5.769880000000001 C T MERTK stop_gained ENST00000295408 37.516559093816525 1.0704549563480412 0.5048882312358158 7.2799e-05 0.747 True 1 1 9.3597e-01
2 112777100 5403 1 1 1 1 5.769880000000001 G T MERTK splice_donor_variant ENST00000295408 37.516559093816525 1.0704549563480412 0.5048882312358158 7.2799e-05 0.747 False 1 1 9.3597e-01
2 135878489 7058 1 1 1 1 15.5466 G A RAB3GAP1 splice_donor_variant ENST00000264158 32.097988951622455 0.7851329985060526 0.47385879939770814 1.7396e-07 0.535 True 1 1 8.7831e-01
2 135891575 521948 1 1 1 1 15.5466 C T RAB3GAP1 stop_gained ENST00000264158 46.61057613243024 1.140118200430118 0.688106400642039 1.7396e-07 0.535 True 1 1 8.7831e-01
2 135893487 635325 1 1 1 1 15.5466 C G RAB3GAP1 stop_gained ENST00000264158 43.78684137031781 1.071048223986904 0.6464199396550638 1.7396e-07 0.535 True 1 1 8.7831e-01
2 135922199 211979 1 1 1 1 15.5466 T G RAB3GAP1 stop_gained ENST00000264158 59.06593691705883 1.4447826071332626 0.871983412886168 1.7396e-07 0.535 True 1 1 8.7831e-01
2 145154000 280856 1 0 1 1 10.248 G A ZEB2 stop_gained ENST00000303660 78.57303084427221 1.4584531069772377 1.0 1.0 0.107 True 0.55947 0.19 6.7831e-01
2 145155993 160323 1 0 1 1 10.248 G A ZEB2 stop_gained ENST00000303660 55.47525121039574 1.0297178512624785 0.7060342539203419 1.0 0.107 True 0.55947 0.19 6.7831e-01
2 145156671 4755 1 0 1 1 10.248 G A ZEB2 stop_gained ENST00000303660 56.36301603655013 1.046196321738387 0.7173328485731801 1.0 0.107 True 0.55947 0.252 6.7831e-01
2 145156798 589324 1 0 1 1 10.248 G T ZEB2 stop_gained ENST00000303660 56.36301603655013 1.046196321738387 0.7173328485731801 1.0 0.107 True 0.55947 0.252 6.7831e-01
2 145157652 280042 1 0 1 1 10.248 G A ZEB2 stop_gained ENST00000303660 59.264072504812496 1.1000450122393222 0.7542546325121517 1.0 0.107 True 0.55947 0.374 6.7831e-01
2 145157727 189281 1 0 1 1 10.248 G A ZEB2 stop_gained ENST00000303660 59.264072504812496 1.1000450122393222 0.7542546325121517 1.0 0.107 True 0.55947 0.374 6.7831e-01
2 145158778 160329 1 1 1 1 10.248 G A ZEB2 stop_gained ENST00000303660 62.872047741120376 1.167015353547898 0.8001733809368968 1.0 0.107 True 0.81571 0.74 7.6201e-01
2 145158859 160328 1 1 1 1 10.248 G A ZEB2 stop_gained ENST00000303660 62.872047741120376 1.167015353547898 0.8001733809368968 1.0 0.107 True 0.81571 0.74 7.6201e-01
2 145161616 212637 1 1 1 1 10.248 G T ZEB2 stop_gained ENST00000303660 66.19959578001402 1.2287804747834399 0.8425231287210785 1.0 0.107 True 0.81571 0.74 7.6201e-01
2 149226485 521004 0 0 1 1 3.4713 C T MBD5 stop_gained ENST00000404807 41.232860555253836 0.9500482000392817 0.48826462342913735 1.0 0.103 False 1 1 3.2349e-01
2 152346553 449500 1 1 1 1 51.1658 G A NEB stop_gained ENST00000172853 35.69194148705661 0.887136439416268 0.4150686836909608 5.5623e-10 0.418 True 0.93951 0.958 7.3002e-01
2 152350373 432817 1 0 1 1 51.1658 G C NEB stop_gained ENST00000172853 42.629777444999995 1.059578924541826 0.49575015740041617 7.5103e-08 0.418 True 0.90795 0.433 3.9363e-01
2 152468878 450119 0 0 1 1 51.1658 C T NEB stop_gained ENST00000172853 29.068912969107153 0.7225186099351567 0.3380481682900297 1.2448e-36 0.418 True 1 1 8.8733e-03
2 152473895 496131 0 0 1 1 51.1658 G A NEB stop_gained ENST00000172853 61.3557237997353 1.5250192643413378 0.7135179105820744 1.2448e-36 0.418 True 1 1 8.8733e-03
2 152512777 282373 0 0 1 1 51.1658 G A NEB stop_gained ENST00000172853 31.50584249261094 0.7830893967995678 0.36638770622004585 1.2448e-36 0.418 False 1 1 8.8733e-03
2 152520251 449501 0 0 1 1 51.1658 G C NEB stop_gained ENST00000172853 35.89728410890355 0.8922403064186207 0.417456653865869 1.2448e-36 0.418 True 1 1 8.8733e-03
2 152536234 449502 0 0 1 1 51.1658 C T NEB splice_donor_variant ENST00000172853 33.30682758694393 0.827853549083291 0.3873317199471478 1.2448e-36 0.418 False 1 1 8.8733e-03
2 152539175 551899 0 0 1 1 51.1658 C T NEB splice_donor_variant ENST00000172853 55.68048804538318 1.383959175419315 0.6475194656656201 1.2448e-36 0.418 False 1 1 8.8733e-03
2 152563394 95104 0 0 1 1 51.1658 C T NEB splice_donor_variant ENST00000172853 74.01236329768963 1.839604731855407 0.8607044876493941 1.2448e-36 0.418 False 1 1 8.8733e-03
2 152586128 552018 0 0 1 1 51.1658 C T NEB splice_donor_variant ENST00000172853 18.36696235636585 0.4565176594169839 0.21359305689276722 1.2448e-36 0.418 False 1 1 8.8733e-03
2 166153563 29885 1 1 1 1 3.29996 C T SCN2A stop_gained ENST00000283256 67.15030102106779 0.9596218031918617 0.7301081762615941 1.0 0.127 True 1 1 9.9095e-01
2 166165305 619986 1 1 1 1 3.29996 G A SCN2A splice_donor_variant ENST00000283256 63.84182058482031 0.912341449808774 0.6941359083673972 1.0 0.127 False 1 1 9.9095e-01
2 166166958 207041 1 1 1 1 3.29996 C T SCN2A stop_gained ENST00000283256 73.5918043952794 1.0516751073354729 0.8001450072127021 1.0 0.127 True 1 1 9.9095e-01
2 166621568 7794 0 0 1 1 3.29221 T A GALNT3 splice_acceptor_variant ENST00000392701 NA NA NA 1.2206e-05 0.863 True 0.91859 0.89 4.1296e-01
2 166626727 7792 0 0 1 1 3.29221 G A GALNT3 stop_gained ENST00000392701 35.58177041405883 0.9546539951033028 0.7277973030405315 1.2206e-05 0.863 True 0.6799 1 4.1296e-01
2 166848051 496124 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 64.18666200241248 1.0525475916996598 0.6469931895043908 1.0 0.054 True 1 1 9.3826e-01
2 166848111 189896 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 64.18666200241248 1.0525475916996598 0.6469931895043908 1.0 0.054 True 1 1 9.3826e-01
2 166848129 189912 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 64.18666200241248 1.0525475916996598 0.6469931895043908 1.0 0.054 True 1 1 9.3826e-01
2 166848852 189921 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 64.18666200241248 1.0525475916996598 0.6469931895043908 1.0 0.054 True 1 1 9.3826e-01
2 166848879 189870 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 64.18666200241248 1.0525475916996598 0.6469931895043908 1.0 0.054 True 1 1 9.3826e-01
2 166852531 189911 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 69.76390963670192 1.144004576416568 0.7032111189463225 1.0 0.054 True 1 1 9.3826e-01
2 166852555 190007 1 1 1 1 0.870301 T A SCN1A stop_gained ENST00000303395 69.76390963670192 1.144004576416568 0.7032111189463225 1.0 0.054 True 1 1 9.3826e-01
2 166852557 206837 1 1 1 1 0.870301 G T SCN1A stop_gained ENST00000303395 69.76390963670192 1.144004576416568 0.7032111189463225 1.0 0.054 True 1 1 9.3826e-01
2 166854547 206829 1 1 1 1 0.870301 T C SCN1A splice_donor_variant&non_coding_transcript_variant ENST00000473295 84.27923464805109 1.3820302020965445 0.8495237037234009 1.0 0.054 True 1 1 9.3826e-01
2 166858980 93651 1 1 1 1 0.870301 A G SCN1A splice_donor_variant ENST00000303395 79.0208941454484 1.2958027296016634 0.7965203166154817 1.0 0.054 True 1 1 9.3826e-01
2 166859042 195576 1 1 1 1 0.870301 C T SCN1A stop_gained ENST00000303395 79.0208941454484 1.2958027296016634 0.7965203166154817 1.0 0.054 True 1 1 9.3826e-01
2 166859047 93649 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 79.0208941454484 1.2958027296016634 0.7965203166154817 1.0 0.054 True 1 1 9.3826e-01
2 166866246 206816 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 68.95860619927869 1.1307990261167966 0.6950937652276057 1.0 0.054 True 1 1 9.3826e-01
2 166866353 189985 1 1 1 1 0.870301 T C SCN1A splice_acceptor_variant ENST00000303395 68.95860619927869 1.1307990261167966 0.6950937652276057 1.0 0.054 True 1 1 9.3826e-01
2 166868765 167639 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 66.77132734613295 1.094931526274421 0.6730462793888954 1.0 0.054 True 1 1 9.3826e-01
2 166870322 189861 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 70.84509072832466 1.1617340317064528 0.7141092834726932 1.0 0.054 True 1 1 9.3826e-01
2 166870344 189873 1 1 1 1 0.870301 C T SCN1A stop_gained ENST00000303395 70.84509072832466 1.1617340317064528 0.7141092834726932 1.0 0.054 True 1 1 9.3826e-01
2 166870348 579916 1 1 1 1 0.870301 C T SCN1A stop_gained ENST00000303395 70.84509072832466 1.1617340317064528 0.7141092834726932 1.0 0.054 True 1 1 9.3826e-01
2 166872171 448252 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 39.50762043555 0.6478550129567338 0.39823166617333394 1.0 0.054 True 1 1 9.3826e-01
2 166892881 189975 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 46.173341014802894 0.7571610264455143 0.465421261073187 1.0 0.054 True 1 1 9.3826e-01
2 166894285 189935 1 1 1 1 0.870301 C A SCN1A splice_donor_variant ENST00000303395 74.6859335077135 1.2247170517206547 0.7528244782296396 1.0 0.054 True 1 1 9.3826e-01
2 166894639 189844 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 74.6859335077135 1.2247170517206547 0.7528244782296396 1.0 0.054 True 1 1 9.3826e-01
2 166895938 189857 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 73.0334699214393 1.197619575175778 0.7361678605949163 1.0 0.054 True 1 1 9.3826e-01
2 166897943 189969 1 1 1 1 0.870301 C T SCN1A stop_gained ENST00000303395 60.82650064538235 0.9974468957960252 0.6131232008523463 1.0 0.054 True 1 1 9.3826e-01
2 166898844 189886 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 48.57368926170455 0.7965224870309219 0.4896164586381547 1.0 0.054 True 1 1 9.3826e-01
2 166900385 93635 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 41.68546236465708 0.68356776395628 0.4201840290473594 1.0 0.054 True 1 1 9.3826e-01
2 166900388 189941 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 41.68546236465708 0.68356776395628 0.4201840290473594 1.0 0.054 True 1 1 9.3826e-01
2 166900484 189892 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 41.68546236465708 0.68356776395628 0.4201840290473594 1.0 0.054 True 1 1 9.3826e-01
2 166900520 265254 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 41.68546236465708 0.68356776395628 0.4201840290473594 1.0 0.054 True 1 1 9.3826e-01
2 166901552 449097 1 1 1 1 0.870301 C T SCN1A splice_donor_variant ENST00000303395 54.35802176847537 0.8913752969396667 0.5479217766116757 1.0 0.054 True 1 1 9.3826e-01
2 166901591 189848 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 54.35802176847537 0.8913752969396667 0.5479217766116757 1.0 0.054 True 1 1 9.3826e-01
2 166904136 189928 1 1 1 1 0.870301 C A SCN1A splice_donor_variant ENST00000303395 88.7770004928227 1.455785597068874 0.8948605973827615 1.0 0.054 True 1 1 9.3826e-01
2 166904178 189963 1 1 1 1 0.870301 G A SCN1A stop_gained ENST00000303395 88.7770004928227 1.455785597068874 0.8948605973827615 1.0 0.054 True 1 1 9.3826e-01
2 166909454 206743 1 1 1 1 0.870301 C T SCN1A splice_acceptor_variant ENST00000303395 70.79564152771428 1.1609231523837056 0.7136108419737389 1.0 0.054 True 1 1 9.3826e-01
2 166911147 206742 1 1 1 1 0.870301 C G SCN1A splice_donor_variant ENST00000303395 75.48150823882031 1.237763068464945 0.760843767856331 1.0 0.054 True 1 1 9.3826e-01
2 166911147 197187 1 1 1 1 0.870301 C T SCN1A splice_donor_variant ENST00000303395 75.48150823882031 1.237763068464945 0.760843767856331 1.0 0.054 True 1 1 9.3826e-01
2 166911211 836613 1 1 1 1 0.870301 A T SCN1A stop_gained ENST00000303395 75.48150823882031 1.237763068464945 0.760843767856331 1.0 0.054 True 1 1 9.3826e-01
2 166915199 206735 1 1 1 1 0.870301 C T SCN1A splice_acceptor_variant ENST00000303395 71.37819713947458 1.1704760327962496 0.7194829266336689 1.0 0.054 True 1 1 9.3826e-01
2 167060878 245799 1 1 1 1 0.8387209999999999 G A SCN9A stop_gained ENST00000303354 58.19920037660577 1.2751582867971638 0.7153012666994367 4.7524e-19 0.708 True 1 1 9.9942e-01
2 167137069 373040 1 1 1 1 0.8387209999999999 C T SCN9A stop_gained ENST00000303354 51.781800744949585 1.1345515384734388 0.6364277760717999 4.7524e-19 0.708 True 0.88124 0.884 9.9942e-01
2 167141295 374104 1 1 1 1 0.8387209999999999 G A SCN9A stop_gained ENST00000303354 32.11840430121294 0.7037218576607176 0.3947534524934333 1.7047e-07 0.708 True 1 1 9.9942e-01
2 169788931 6596 1 1 1 1 0.29782600000000004 G A ABCB11 stop_gained ENST00000263817 53.6113552963013 1.234118196692799 0.7139749062869392 1.5612e-12 0.638 True 1 1 9.8398e-01
2 169792772 500467 1 1 1 1 0.29782600000000004 G A ABCB11 stop_gained ENST00000263817 50.402661264768476 1.1602549699556932 0.6712427834408458 1.5612e-12 0.638 True 1 1 9.8398e-01
2 169820715 596620 1 1 1 1 0.29782600000000004 C T ABCB11 splice_donor_variant ENST00000263817 62.53446255159805 1.4395255954414554 0.8328093328963395 1.5612e-12 0.638 False 1 1 9.8398e-01
2 179423146 420065 1 1 1 1 16.7617 G A TTN stop_gained ENST00000342175 40.4535979407973 1.0422799857269132 0.413945541635372 1.7912e-24 0.29 True 1 1 8.2618e-01
2 179424496 419359 1 1 1 1 16.7617 C T TTN stop_gained ENST00000342175 38.7895025338886 0.999404854088453 0.396917516697915 1.7912e-24 0.29 True 1 1 8.2618e-01
2 179428202 488810 1 1 1 1 16.7617 C A TTN stop_gained ENST00000342175 38.7895025338886 0.999404854088453 0.396917516697915 1.7912e-24 0.29 True 1 1 8.2618e-01
2 179430143 180010 1 1 1 1 16.7617 G A TTN stop_gained ENST00000342175 38.7895025338886 0.999404854088453 0.396917516697915 1.7912e-24 0.29 True 1 1 8.2618e-01
2 179473427 202450 1 1 1 1 16.7617 T TTCAA TTN stop_gained&frameshift_variant ENST00000342175 45.339826452698674 1.1681728220352234 0.4639443701913209 NA NA NA NA NA 8.2618e-01
2 179474496 429894 1 1 1 1 16.7617 G C TTN stop_gained ENST00000342175 41.42448907279802 1.0672948285768629 0.42388028356100194 1.7912e-24 0.29 True 1 1 8.2618e-01
2 179477169 202377 1 1 1 1 16.7617 G A TTN stop_gained ENST00000342175 42.456517321168334 1.0938848587036116 0.43444061722723987 1.7912e-24 0.29 True 1 1 8.2618e-01
2 179477885 179411 1 1 1 1 16.7617 TA T TTN splice_donor_variant ENST00000342175 NA NA NA NA NA NA NA NA 8.2618e-01
2 179481235 202371 1 1 1 1 16.7617 G A TTN stop_gained ENST00000342175 35.02816396691216 0.9024946135298841 0.35842923853141695 1.7912e-24 0.29 True 1 1 8.2618e-01
2 182403895 860317 1 1 1 1 1.79713 C A CERKL stop_gained ENST00000339098 25.409803722945462 0.8021974031669938 0.5730209340162801 1.5275e-18 1 True 0.80221 0.474 9.8658e-01
2 182423344 2364 1 1 1 1 1.79713 G A CERKL stop_gained ENST00000339098 39.32619232628169 1.2415432131851198 0.8868518507193573 2.4429e-23 1 True 1 1 9.8582e-01
2 189855742 381616 1 1 1 1 138.705 C T COL3A1 stop_gained ENST00000304636 45.13634795428301 0.7827760732861868 0.49782494106888914 1.0 0.098 True 0.53889 0.457 9.1186e-01
2 189856934 101324 1 1 1 1 138.705 C T COL3A1 stop_gained ENST00000304636 57.82537129561364 1.0028351678993355 0.6377767223587235 1.0 0.098 True 1 1 9.1187e-01
2 189857612 101447 1 1 1 1 138.705 G C COL3A1 splice_acceptor_variant ENST00000304636 62.90315299186792 1.0908964798429666 0.6937813946077684 1.0 0.098 True 1 1 9.1187e-01
2 189860905 101269 1 1 1 1 138.705 G A COL3A1 splice_donor_variant ENST00000304636 52.3693465773585 0.9082141850711739 0.5776002724034269 1.0 0.098 True 0.53889 0.457 9.1186e-01
2 189861915 242648 1 1 1 1 138.705 C T COL3A1 stop_gained ENST00000304636 40.77705775577359 0.7071751835695351 0.4497447687790703 1.0 0.098 True 0.53889 0.457 9.1186e-01
2 189872295 101427 1 1 1 1 138.705 C T COL3A1 stop_gained ENST00000304636 80.55605522336448 1.3970415296124312 0.8884815733194078 1.0 0.098 True 0.62653 0.135 8.4516e-01
2 200193432 522269 1 1 1 1 1.2199200000000001 G A SATB2 stop_gained ENST00000260926 65.36184356631132 0.908844586655296 0.697188017863145 0.99999 0.091 True 1 1 9.6926e-01
2 200193522 280687 1 1 1 1 1.2199200000000001 G A SATB2 stop_gained ENST00000260926 65.36184356631132 0.908844586655296 0.697188017863145 0.99999 0.091 True 1 1 9.6926e-01
2 200213729 373586 1 1 1 1 1.2199200000000001 G A SATB2 stop_gained ENST00000260926 69.46875789597033 0.9659504859492913 0.7409947911241198 0.99999 0.091 True 1 1 9.6926e-01
2 200213750 208673 1 1 1 1 1.2199200000000001 G A SATB2 stop_gained ENST00000260926 69.46875789597033 0.9659504859492913 0.7409947911241198 0.99999 0.091 True 1 1 9.6926e-01
2 200213882 2519 1 1 1 1 1.2199200000000001 G A SATB2 stop_gained ENST00000260926 69.46875789597033 0.9659504859492913 0.7409947911241198 0.99999 0.091 True 1 1 9.6926e-01
2 202505638 31180 0 0 1 1 6.57665 G A TMEM237 stop_gained ENST00000409444 46.30953518412904 0.9566604039793665 0.5007066777827696 1.6252e-10 1 True 0.92198 0.99 1.9358e-01
2 202622363 533743 1 1 1 1 6.9039399999999995 A C ALS2 stop_gained ENST00000264276 37.70119153522689 0.8521568898180226 0.4923093528102478 8.7204e-12 0.516 True 0.6091 0.495 7.4627e-01
2 203378462 222513 1 1 1 1 6.25809 C T BMPR2 stop_gained ENST00000374574 52.698287939636366 1.09434686776376 0.6352198992537895 0.99998 0.191 False 1 1 9.8899e-01
2 203383554 8812 1 1 1 1 6.25809 C T BMPR2 stop_gained ENST00000374574 42.48427034468996 0.8822398221778183 0.5121011513530952 0.99998 0.191 True 1 1 9.8899e-01
2 203384918 409826 1 1 1 1 6.25809 C T BMPR2 stop_gained ENST00000374574 52.71331941890352 1.0946590155184024 0.6354010872035128 0.99998 0.191 True 1 1 9.8899e-01
2 203395543 8810 1 1 1 1 6.25809 C T BMPR2 stop_gained ENST00000374574 57.67059876796251 1.1976032161817478 0.6951556373378388 0.99998 0.191 False 1 1 9.8899e-01
2 203395678 212811 1 1 1 1 6.25809 G A BMPR2 splice_donor_variant ENST00000374574 57.67059876796251 1.1976032161817478 0.6951556373378388 0.99998 0.191 False 1 1 9.8899e-01
2 203395678 280837 1 1 1 1 6.25809 G C BMPR2 splice_donor_variant ENST00000374574 57.67059876796251 1.1976032161817478 0.6951556373378388 0.99998 0.191 False 1 1 9.8899e-01
2 203407155 409813 1 1 1 1 6.25809 G A BMPR2 stop_gained ENST00000374574 58.635680880441186 1.217644371752791 0.7067886407280543 0.99998 0.191 False 1 1 9.8899e-01
2 203421083 8796 1 1 1 1 6.25809 C T BMPR2 stop_gained ENST00000374580 42.223186028215494 0.8768180748094151 0.5089540670797384 0.99998 0.191 True 0.6583 0.251 6.0475e-01
2 204735350 161109 1 1 1 1 0.6172529999999999 C T CTLA4 stop_gained ENST00000295854 56.60219161435484 1.1684575172794864 1.0 0.94085 0.334 True 1 1 1.0000e+00
2 211525236 552571 1 1 1 1 4.01135 C T CPS1 stop_gained ENST00000233072 46.843941495882355 1.079878121172445 0.7430556942868886 8.6448e-09 0.517 True 1 1 9.5372e-01
2 215595215 141702 1 0 1 1 2.05856 G A BARD1 stop_gained ENST00000260947 28.34636940183506 0.9715876134980667 0.317628182060883 1.1164e-06 1 True 1 1 9.9196e-01
2 215595231 479187 1 0 1 1 2.05856 C T BARD1 stop_gained&splice_region_variant ENST00000260947 28.34636940183506 0.9715876134980667 0.317628182060883 1.1164e-06 1 True 1 1 9.9196e-01
2 215609807 630100 1 0 1 1 2.05856 C T BARD1 stop_gained ENST00000260947 31.790239110065222 1.0896281676016555 0.3562176063068281 1.1164e-06 1 True 1 1 9.9196e-01
2 215609851 481388 1 0 1 1 2.05856 G A BARD1 stop_gained ENST00000260947 31.790239110065222 1.0896281676016555 0.3562176063068281 1.1164e-06 1 True 1 1 9.9196e-01
2 215610566 127720 1 0 1 1 2.05856 G A BARD1 stop_gained ENST00000260947 36.857906681840916 1.2633252986968406 0.41300209307104135 1.1164e-06 1 True 1 1 9.9196e-01
2 215617226 379750 1 0 1 1 2.05856 G T BARD1 stop_gained ENST00000260947 35.68207776878704 1.2230231072125906 0.39982663505123056 1.1164e-06 1 True 1 1 9.9196e-01
2 215632367 460706 1 0 1 1 2.05856 G T BARD1 stop_gained ENST00000260947 36.10760180306977 1.237608180704509 0.4045947386314967 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215634013 481402 1 0 1 1 2.05856 G C BARD1 stop_gained ENST00000260947 20.768219986962503 0.7118423177124572 0.23271311629320518 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215645316 482788 1 0 1 1 2.05856 C A BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215645386 142734 1 0 1 1 2.05856 G C BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215645393 379884 1 0 1 1 2.05856 G C BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215645487 580814 1 0 1 1 2.05856 T A BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215645537 185916 1 0 1 1 2.05856 G C BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215645790 481415 1 0 1 1 2.05856 C A BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215645865 141005 1 0 1 1 2.05856 G A BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215645889 230107 1 0 1 1 2.05856 G A BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215646102 185846 1 0 1 1 2.05856 G A BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215646150 182036 1 0 1 1 2.05856 G A BARD1 stop_gained NM_000465.2 27.474901146552785 0.9417175532308701 0.307863161584181 3.1168e-16 1 True 0.95553 1 9.9196e-01
2 215657051 185139 1 0 1 1 2.05856 G A BARD1 stop_gained ENST00000260947 39.62115908884459 1.3580373153771739 0.4439650296704324 1.3777e-24 1 True 0.95553 1 9.9196e-01
2 215657087 185079 1 0 1 1 2.05856 G A BARD1 stop_gained ENST00000260947 39.62115908884459 1.3580373153771739 0.4439650296704324 1.3777e-24 1 True 0.95553 1 9.9196e-01
2 215657108 230447 1 0 1 1 2.05856 G A BARD1 stop_gained ENST00000260947 39.62115908884459 1.3580373153771739 0.4439650296704324 1.3777e-24 1 True 0.95553 1 9.9196e-01
2 215802332 419453 1 1 1 1 1.39898 G A ABCA12 stop_gained ENST00000272895 55.22707031823809 1.2990299645314691 0.9291721463554095 3.4195e-12 0.476 True 1 1 9.9978e-01
2 217342939 4171 1 1 1 1 3.05963 G T SMARCAL1 stop_gained ENST00000357276 25.813592705208332 0.6879823082750606 0.3055308765580391 2.2554e-06 0.611 True 1 1 9.5582e-01
2 219674491 65871 1 1 1 1 24.5198 G A CYP27A1 splice_donor_variant ENST00000258415 32.9810078178254 1.1421048013906057 0.6014608636672929 3.987e-09 1 True 1 1 8.9321e-01
2 219677060 801897 1 1 1 1 24.5198 C T CYP27A1 stop_gained ENST00000258415 NA NA NA 3.987e-09 1 True 1 1 8.9321e-01
2 219677436 65902 1 1 1 1 24.5198 C T CYP27A1 stop_gained ENST00000258415 19.436483789659903 0.6730692276275294 0.3544550364063126 3.987e-09 1 True 1 1 8.9321e-01
2 219677473 4257 1 1 1 1 24.5198 G A CYP27A1 splice_donor_variant ENST00000258415 19.436483789659903 0.6730692276275294 0.3544550364063126 3.987e-09 1 True 1 1 8.9321e-01
2 219677652 65907 1 1 1 1 24.5198 A T CYP27A1 stop_gained ENST00000258415 24.971671264154644 0.8647481546674979 0.4553979383745975 3.987e-09 1 True 1 1 8.9321e-01
2 219677688 502269 1 1 1 1 24.5198 C T CYP27A1 stop_gained ENST00000258415 24.971671264154644 0.8647481546674979 0.4553979383745975 3.987e-09 1 True 1 1 8.9321e-01
2 219678911 65833 1 1 1 1 24.5198 G A CYP27A1 splice_donor_variant ENST00000258415 30.01339120375302 1.03933871242389 0.547341679026468 5.2916e-19 1 True 1 1 8.9277e-01
2 219679102 500370 1 1 1 1 24.5198 G A CYP27A1 splice_acceptor_variant ENST00000258415 54.834835997025635 1.898884649662556 1.0 5.2916e-19 1 True 1 1 8.9277e-01
2 219679182 4262 1 1 1 1 24.5198 G A CYP27A1 splice_donor_variant ENST00000258415 54.834835997025635 1.898884649662556 1.0 5.2916e-19 1 True 1 1 8.9277e-01
2 219747090 4461 1 1 1 1 1.55024 C A WNT10A stop_gained ENST00000258411 35.70431194553435 1.3406358068066064 1.0 0.0011584 1 True 1 1 9.3226e-01
2 219755071 265293 1 1 1 1 1.55024 C T WNT10A stop_gained ENST00000258411 22.70791034961214 0.8526431697909239 0.6359991024123989 4.1667e-09 1 True 1 1 9.2369e-01
2 220283506 804737 1 1 1 1 1491.1 G T DES stop_gained ENST00000373960 50.901692627276034 1.039566273880255 0.5602480403246506 0.0088282 0.596 True 1 1 9.5697e-01
2 220283557 285007 1 1 1 1 1491.1 A T DES stop_gained ENST00000373960 50.901692627276034 1.039566273880255 0.5602480403246506 0.0088282 0.596 True 1 1 9.5697e-01
2 223096805 280007 1 0 1 1 0.124899 G A PAX3 stop_gained ENST00000336840 56.41414912174147 1.1565553070251855 0.6675565801692886 0.98128 0.3 False 1 1 9.5999e-01
2 227917083 449549 1 1 1 1 2.3058400000000003 G C COL4A4 stop_gained ENST00000329662 35.101305369405665 0.9181617531640812 0.47029530693392907 6.7123e-16 0.616 False 1 1 1.0000e+00
2 228128561 495548 1 1 1 1 3.30835 C T COL4A3 stop_gained ENST00000396578 43.32132068893167 1.0324426655437924 0.5262368879880156 1.0699e-12 0.522 True 1 1 6.9074e-01
2 228155501 554110 1 1 1 1 3.30835 C T COL4A3 stop_gained NM_000091.4 42.997924983827346 1.0247354322809654 0.5223085047638572 0.0016703 0.522 True 1 1 7.8952e-01
2 228172614 17484 1 1 1 1 3.30835 C T COL4A3 stop_gained ENST00000396578 34.06111760121287 0.8117515922496226 0.41375046380881947 1.0699e-12 0.522 True 1 1 6.9074e-01
2 228175561 447174 1 1 1 1 3.30835 C T COL4A3 stop_gained ENST00000396578 47.58197107266279 1.133983365808118 0.5779922676275023 1.0699e-12 0.522 True 1 1 6.9074e-01
2 233349573 210910 1 1 1 1 1.99515 G A ECEL1 stop_gained ENST00000304546 32.76496878558696 0.8558315856901887 0.6938141640704663 1.7369e-12 0.823 True 0.91198 1 4.8742e-01
2 233350647 39488 1 1 1 1 1.99515 G GT ECEL1 stop_gained&frameshift_variant ENST00000304546 46.874033560237656 1.2243649225510673 0.9925804789874659 NA NA NA NA NA 4.8742e-01
2 233392146 18368 1 1 1 1 1.68862 G A CHRND stop_gained ENST00000258385 20.511541995931818 0.6209415704039188 0.4912585739605772 0.00060254 0.978 True 0.8264 0.698 5.4448e-04
2 234237188 41895 0 1 1 1 0.14665799999999998 C T SAG stop_gained ENST00000409110 34.68560356907408 0.7716519271707231 0.3604189385099389 3.968e-08 1 True 0.87465 1 6.2573e-01
2 234669155 437210 1 1 1 1 0.817484 C A UGT1A1 stop_gained ENST00000305208 33.90787864885503 1.011512096970785 0.4434492878350897 3.2577e-06 1 True 0.92695 1 1.0000e+00
2 234676583 160229 1 1 1 1 1.2581 G T UGT1A6 splice_donor_variant ENST00000305139 28.977008658238084 0.864418417187674 0.37896307186179007 0.0012027 1 True 1 1 6.9547e-01
2 238243533 192263 1 1 1 1 47.8529 C G COL6A3 splice_acceptor_variant ENST00000295550 20.93522051988213 0.6236916788856923 0.24959891120162955 1.1499e-14 0.521 True 1 1 5.0287e-01
2 238256455 285477 1 1 1 1 47.8529 G A COL6A3 stop_gained ENST00000295550 45.00413207124194 1.3407407226329207 0.5365590658043649 1.1499e-14 0.521 True 1 1 5.0287e-01
2 238268004 581383 1 1 1 1 47.8529 C T COL6A3 splice_donor_variant ENST00000295550 68.1287498795 2.029657836772001 0.8122609348825284 1.1499e-14 0.521 True 1 1 5.0287e-01
2 238268730 94959 1 1 1 1 47.8529 C T COL6A3 splice_donor_variant ENST00000295550 58.35658670207043 1.7385304109735595 0.6957529054182746 1.1499e-14 0.521 True 1 1 5.0287e-01
2 238269763 94956 1 1 1 1 47.8529 C T COL6A3 splice_donor_variant ENST00000295550 33.79905294941509 1.006924577591495 0.40296718192236797 1.1499e-14 0.521 True 1 1 5.0287e-01
2 238269819 280181 1 1 1 1 47.8529 T G COL6A3 splice_acceptor_variant ENST00000295550 33.79905294941509 1.006924577591495 0.40296718192236797 1.1499e-14 0.521 True 1 1 5.0287e-01
2 238270381 488799 1 1 1 1 47.8529 C T COL6A3 splice_donor_variant ENST00000295550 28.610252517119562 0.8523424154428907 0.34110401993114187 1.1499e-14 0.521 True 1 1 5.0287e-01
2 238285979 419449 1 1 1 1 47.8529 G A COL6A3 stop_gained ENST00000295550 36.273875802588506 1.0806532693325024 0.4324731089787538 0.00027112 0.521 False 1 1 5.0465e-01
2 241810066 204097 1 1 1 1 12.7787 C T AGXT stop_gained ENST00000307503 61.03863584017187 1.681265573304049 1.0 1.2332e-07 1 True 1 1 8.2287e-01
3 4461808 488612 1 1 1 1 13.6345 A C SUMF1 stop_gained ENST00000272902 36.84876146036585 1.2236344332326632 0.8399044998331645 2.2629e-06 0.974 True 1 1 9.7499e-01
3 9512419 127104 1 1 1 1 17.146 C T SETD5 stop_gained ENST00000302463 49.626925920748945 1.0617085199099339 0.5702963633456601 0.99998 0.225 True 1 1 5.7342e-01
3 10183739 428806 1 1 1 1 6.33661 G T VHL stop_gained ENST00000256474 33.62502041644838 1.0318573595832694 0.8680752100151744 0.1688 0.927 True 1 1 8.0242e-01
3 10183794 182978 1 1 1 1 6.33661 G A VHL stop_gained ENST00000256474 33.62502041644838 1.0318573595832694 0.8680752100151744 0.1688 0.927 True 1 1 8.0242e-01
3 10183811 584477 1 1 1 1 6.33661 G T VHL stop_gained ENST00000256474 33.62502041644838 1.0318573595832694 0.8680752100151744 0.1688 0.927 True 1 1 8.0242e-01
3 10188196 223194 0 0 1 1 6.33661 A G VHL splice_acceptor_variant ENST00000256474 38.735146480983595 1.1886727643855097 1.0 0.079515 0.927 True 1 1 2.7290e-01
3 10188251 288749 0 0 1 1 6.33661 C T VHL stop_gained ENST00000256474 38.735146480983595 1.1886727643855097 1.0 0.079515 0.927 True 1 1 2.7290e-01
3 10188321 526679 0 0 1 1 6.33661 G A VHL splice_donor_variant ENST00000256474 38.735146480983595 1.1886727643855097 1.0 0.079515 0.927 True 1 1 2.7290e-01
3 10191469 223222 1 1 1 1 6.33661 A G VHL splice_acceptor_variant ENST00000256474 26.289663452474297 0.8067558734070859 0.6787030859785387 0.1688 0.927 False 1 1 8.0242e-01
3 10191470 43603 1 1 1 1 6.33661 G A VHL splice_acceptor_variant ENST00000256474 26.289663452474297 0.8067558734070859 0.6787030859785387 0.1688 0.927 False 1 1 8.0242e-01
3 10191488 2217 1 1 1 1 6.33661 C T VHL stop_gained ENST00000256474 26.289663452474297 0.8067558734070859 0.6787030859785387 0.1688 0.927 True 1 1 8.0242e-01
3 10191497 223228 1 1 1 1 6.33661 C T VHL stop_gained ENST00000256474 26.289663452474297 0.8067558734070859 0.6787030859785387 0.1688 0.927 True 1 1 8.0242e-01
3 10191532 182974 1 1 1 1 6.33661 C G VHL stop_gained ENST00000256474 26.289663452474297 0.8067558734070859 0.6787030859785387 0.1688 0.927 True 1 1 8.0242e-01
3 11070531 521437 1 1 1 1 9.61497 C T SLC6A1 stop_gained&splice_region_variant ENST00000287766 88.13726409928572 1.2241105847806693 1.0 0.99993 0.15 True 1 1 9.1457e-01
3 11072861 633582 1 1 1 1 9.61497 AG A SLC6A1 splice_acceptor_variant ENST00000287766 78.19576162291176 1.086036201211833 0.8872043218272018 NA NA NA NA NA 9.1457e-01
3 14190232 190213 1 1 1 1 19.5613 C G XPC splice_acceptor_variant ENST00000285021 31.257559175467453 0.8008249585926662 0.3936617911926211 3.6866e-11 0.782 True 1 1 7.8639e-01
3 14199648 259 1 1 1 1 19.5613 G A XPC stop_gained ENST00000285021 41.13015978339954 1.053762973639419 0.5179986153582842 3.6866e-11 0.782 True 1 1 7.8639e-01
3 14199706 190211 1 1 1 1 19.5613 G T XPC stop_gained ENST00000285021 41.13015978339954 1.053762973639419 0.5179986153582842 3.6866e-11 0.782 True 1 1 7.8639e-01
3 14200140 438623 1 1 1 1 19.5613 G A XPC stop_gained ENST00000285021 41.13015978339954 1.053762973639419 0.5179986153582842 3.6866e-11 0.782 True 1 1 7.8639e-01
3 14206968 556301 1 1 1 1 19.5613 G A XPC stop_gained ENST00000285021 54.64285129213637 1.399960850358237 0.6881792207376584 3.6866e-11 0.782 True 1 0.563 7.8639e-01
3 14207087 190209 1 1 1 1 19.5613 T G XPC splice_acceptor_variant ENST00000285021 54.64285129213637 1.399960850358237 0.6881792207376584 3.6866e-11 0.782 True 1 0.563 7.8639e-01
3 14209830 496268 1 1 1 1 19.5613 G A XPC stop_gained ENST00000285021 26.25763587994495 0.6727259172175512 0.33069210282725736 0.79951 0.563 True 0.91378 0.81 7.8635e-01
3 15499704 6655 1 1 1 1 1.58833 G A COLQ stop_gained ENST00000383781 26.04432383571739 0.6933530325282029 0.4023270314956899 1.7138e-12 1 True 1 1 9.3755e-01
3 15512081 280125 1 1 1 1 1.58833 G A COLQ stop_gained ENST00000383781 25.1331748582 0.6690963879467733 0.38825180091234973 2.2578e-07 1 True 1 1 9.3796e-01
3 15686489 552232 1 1 1 1 7.07632 C T BTD stop_gained ENST00000303498 32.78043998403368 1.0832743073212003 1.0 5.0044e-07 1 True 1 1 7.6330e-01
3 25761670 126424 1 1 1 1 6.70413 G A NGLY1 stop_gained ENST00000280700 37.046541433412415 1.000808775779942 0.6590724455693159 3.4554e-12 0.91 True 1 0.969 5.0722e-01
3 25773830 488990 1 1 1 1 6.70413 G A NGLY1 stop_gained ENST00000280700 39.35516336308535 1.0631759765435431 0.7001437316384711 1.4246e-11 0.91 True 1 1 6.1900e-01
3 25775422 50962 1 1 1 1 6.70413 T A NGLY1 stop_gained ENST00000280700 46.2117356017909 1.2484056201959641 0.822124830514024 1.4246e-11 0.91 True 1 1 6.1900e-01
3 30729962 12519 1 1 1 1 38.5959 C T TGFBR2 stop_gained ENST00000295754 49.42928640763779 0.9197180594780754 0.5307968113757617 0.12535 0.519 False 1 1 1.0000e+00
3 33055804 946 1 1 1 1 7.7366 T C GLB1 splice_acceptor_variant ENST00000307363 34.668959163122054 0.8380258950848715 0.4591127589382264 9.7747e-07 0.832 True 1 1 9.1045e-01
3 33058311 924 1 1 1 1 7.7366 G A GLB1 stop_gained ENST00000307363 45.77284420479389 1.1064315070671547 0.6061588606809525 9.7747e-07 0.832 True 1 1 9.1045e-01
3 33087629 941 1 1 1 1 7.7366 G A GLB1 stop_gained ENST00000307363 47.991961437499995 1.1600725089930206 0.6355461010166474 9.7747e-07 0.832 True 1 1 9.1045e-01
3 33110432 264673 1 1 1 1 7.7366 C T GLB1 stop_gained ENST00000307363 60.99928856049021 1.4744885519903719 0.8077990323420386 0.0023165 0.847 True 0.78445 0.832 7.3829e-01
3 33114035 417873 1 1 1 1 7.7366 C T GLB1 splice_donor_variant ENST00000307363 35.82451796006627 0.8659583227812433 0.4744155485283082 0.0023165 0.832 True 0.78445 1 9.1162e-01
3 37035063 224532 1 1 1 1 6.71053 CG TA MLH1 stop_gained ENST00000231790 22.98699117402222 0.6548509290748143 0.38874558203381165 3.41e-05 0.575 True 0.77432 0.452 4.0875e-01
3 37042443 182513 1 1 1 1 6.71053 CAGAAAGA C MLH1 splice_acceptor_variant&coding_sequence_variant ENST00000231790 NA NA NA NA NA NA NA NA 4.0902e-01
3 37042510 486851 1 1 1 1 6.71053 T G MLH1 stop_gained ENST00000231790 30.933170368724483 0.8812208262419706 0.5231277650957014 0.0032789 0.524 True 1 0.651 4.0902e-01
3 37053348 218025 1 1 1 1 6.71053 A T MLH1 stop_gained ENST00000231790 49.910208169166665 1.4218366354458927 0.8440588321136249 0.0032789 0.524 True 1 0.651 7.4658e-01
3 37053502 479670 1 1 1 1 6.71053 C T MLH1 stop_gained&splice_region_variant ENST00000231790 31.166597070909095 0.8878706609958644 0.5270753717448717 0.72824 0.524 True 1 0.651 7.4658e-01
3 37055944 405380 1 1 1 1 6.71053 T A MLH1 stop_gained ENST00000231790 46.11671564537499 1.3137680289528981 0.7799050049364133 0.0032789 0.524 True 1 0.695 7.4658e-01
3 37058995 419530 1 1 1 1 6.71053 A T MLH1 splice_acceptor_variant ENST00000231790 51.58095133370968 1.469432586793489 0.8723136836952134 0.72824 0.524 True 1 1 9.3077e-01
3 37067335 220069 1 1 1 1 6.71053 A T MLH1 stop_gained ENST00000231790 35.87189105494054 1.0219145692954112 0.6066491721876912 0.0032789 0.524 True 0.8549 1 9.3077e-01
3 37067404 486846 1 1 1 1 6.71053 G T MLH1 stop_gained ENST00000231790 35.87189105494054 1.0219145692954112 0.6066491721876912 0.0032789 0.524 True 0.8549 1 9.3077e-01
3 37070411 545957 1 1 1 1 6.71053 C T MLH1 stop_gained ENST00000231790 29.436544687067563 0.8385851149959576 0.49781750951253595 0.0032789 0.524 True 1 1 9.3077e-01
3 37081786 455398 1 1 1 1 6.71053 G A MLH1 splice_donor_variant ENST00000231790 30.371259140018513 0.8652131596713444 0.5136249769316942 0.0032789 0.524 True 0.8549 1 9.3077e-01
3 37089047 433870 1 1 1 1 6.71053 T G MLH1 stop_gained ENST00000231790 29.57811970662805 0.8426182889068495 0.5002117621123581 0.0032789 0.524 True 0.8549 1 9.3077e-01
3 37089069 480903 1 1 1 1 6.71053 G A MLH1 stop_gained ENST00000231790 29.57811970662805 0.8426182889068495 0.5002117621123581 0.0032789 0.524 True 0.8549 1 9.3077e-01
3 37090402 265246 1 1 1 1 6.71053 G A MLH1 stop_gained ENST00000231790 30.49542398904425 0.8687503545189601 0.5157247966139324 4.6373e-05 0.575 True 0.75146 0.524 9.3050e-01
3 37090470 182529 1 1 1 1 6.71053 C T MLH1 stop_gained ENST00000231790 30.49542398904425 0.8687503545189601 0.5157247966139324 4.6373e-05 0.575 True 0.75146 0.524 9.3050e-01
3 37090475 642710 1 1 1 1 6.71053 C G MLH1 stop_gained ENST00000231790 30.49542398904425 0.8687503545189601 0.5157247966139324 4.6373e-05 0.575 True 0.75146 0.524 9.3050e-01
3 37090503 483543 1 1 1 1 6.71053 C T MLH1 stop_gained ENST00000231790 30.49542398904425 0.8687503545189601 0.5157247966139324 4.6373e-05 0.575 True 0.75146 0.524 9.3050e-01
3 37092015 418308 1 1 1 1 6.71053 G A MLH1 stop_gained ENST00000231790 37.73772808550609 1.0750683336884155 0.6382033628573753 0.0032789 0.524 True 0.75146 0.778 9.1329e-01
3 37092079 232190 1 1 1 1 6.71053 G T MLH1 stop_gained ENST00000231790 37.73772808550609 1.0750683336884155 0.6382033628573753 0.0032789 0.524 True 0.75146 0.778 9.1329e-01
3 38592951 523778 1 1 1 1 0.46984899999999996 G A SCN5A stop_gained ENST00000333535 40.32369967960387 0.8849731140002881 0.5360164556489594 0.98936 0.289 True 1 1 9.5288e-01
3 38592996 9374 1 1 1 1 0.46984899999999996 G A SCN5A stop_gained ENST00000333535 40.32369967960387 0.8849731140002881 0.5360164556489594 0.98936 0.289 True 1 1 9.5288e-01
3 38645490 517279 1 1 1 1 0.46984899999999996 G A SCN5A stop_gained ENST00000333535 34.17579094928032 0.7500466569317675 0.45429329350200587 0.98936 0.289 False 1 1 9.5288e-01
3 38651255 406427 1 1 1 1 0.46984899999999996 C A SCN5A stop_gained ENST00000333535 53.23591165494783 1.1683538685254446 0.7076564131083367 0.98936 0.289 True 1 1 9.5288e-01
3 38655273 201438 1 1 1 1 0.46984899999999996 G A SCN5A stop_gained ENST00000333535 71.70889649234066 1.5737753711733444 0.9532148300311944 0.98936 0.289 True 0.77021 0.306 1.3724e-01
3 38674595 463308 1 1 1 1 0.46984899999999996 A T SCN5A stop_gained ENST00000333535 28.393854798981614 0.6231520991273695 0.3774349460116511 0.98936 0.289 True 1 1 9.5288e-01
3 41266471 253000 1 1 1 1 48.9489 C T CTNNB1 stop_gained ENST00000349496 50.469441437534485 0.7581892157037311 0.5417735646568455 0.99999 0.127 True 0.14866 1 9.4334e-01
3 41266486 265443 1 1 1 1 48.9489 C T CTNNB1 stop_gained ENST00000349496 50.469441437534485 0.7581892157037311 0.5417735646568455 0.99999 0.127 True 0.14866 1 9.4334e-01
3 41266540 451713 1 1 1 1 48.9489 C T CTNNB1 stop_gained ENST00000349496 NA NA NA 0.99999 0.127 True 0.14866 0.456 9.1512e-01
3 41268759 279956 1 1 1 1 48.9489 T TA CTNNB1 stop_gained&frameshift_variant ENST00000349496 71.73143243321528 1.0776025442080168 0.770014344133054 NA NA NA NA NA 9.1497e-01
3 41268761 450550 1 1 1 1 48.9489 C A CTNNB1 stop_gained ENST00000349496 71.73143243321528 1.0776025442080168 0.770014344133054 0.99999 0.127 True 0.14866 0.341 9.1497e-01
3 41275648 39655 1 1 1 1 48.9489 C T CTNNB1 stop_gained ENST00000349496 71.60531520920887 1.0757079181445501 0.7686605154385331 0.99999 0.127 True 1 1 9.1497e-01
3 41275708 265085 1 1 1 1 48.9489 C T CTNNB1 stop_gained ENST00000349496 71.60531520920887 1.0757079181445501 0.7686605154385331 0.99999 0.127 True 1 1 9.1497e-01
3 41277290 423482 1 1 1 1 48.9489 C T CTNNB1 stop_gained ENST00000349496 52.40621637673949 0.7872848789471605 0.56256423387893 0.99999 0.127 True 1 1 9.1497e-01
3 41278105 429824 1 1 1 1 48.9489 C T CTNNB1 stop_gained ENST00000349496 83.6448506389091 1.256574709313215 0.8979011378978516 0.99999 0.127 True 1 1 9.1497e-01
3 42727712 60516 1 1 1 1 10.0962 G A KLHL40 stop_gained ENST00000287777 30.45521358704551 1.065750170713108 0.8405734617616447 3.5382e-06 0.924 False 1 1 1.0000e+00
3 48603069 265082 0 0 1 1 13.5137 G A COL7A1 stop_gained&splice_region_variant ENST00000328333 50.606333025156246 1.3470614761124964 0.5919047328505379 2.4411e-40 0.595 True 0.78173 0.992 1.3230e-01
3 48609571 372347 0 0 1 1 13.5137 G A COL7A1 stop_gained ENST00000328333 37.19654722356818 0.9901139405686712 0.4350604169716082 2.4411e-40 0.595 True 0.78173 1 1.3230e-01
3 48613705 345830 0 0 1 1 13.5137 G A COL7A1 stop_gained ENST00000328333 32.892944249787234 0.8755587569006169 0.3847243658053574 2.4411e-40 0.595 True 0.78173 1 1.3230e-01
3 48615753 488825 0 0 1 1 13.5137 C T COL7A1 splice_donor_variant ENST00000328333 28.326737195181817 0.7540134631099278 0.331316829530146 2.4411e-40 0.595 True 1 1 1.3230e-01
3 48618019 372337 0 0 1 1 13.5137 G A COL7A1 stop_gained ENST00000328333 43.80000078235211 1.1658875516286542 0.5122961141848399 2.4411e-40 0.595 True 1 1 1.3230e-01
3 48622187 503709 0 0 1 1 13.5137 G A COL7A1 stop_gained ENST00000328333 10.665213073371428 0.2838912998997254 0.12474308485955526 2.4411e-40 0.595 True 1 1 1.3230e-01
3 48627691 374052 0 0 1 1 13.5137 G A COL7A1 stop_gained ENST00000328333 32.93218154223913 0.8766031922890224 0.3851832953052477 2.4411e-40 0.595 False 1 1 1.3230e-01
3 48628154 372330 0 0 1 1 13.5137 G A COL7A1 stop_gained ENST00000328333 46.973858485195805 1.250370682228897 0.5494183730683962 2.4411e-40 0.595 False 1 1 1.3230e-01
3 48628960 279785 0 0 1 1 13.5137 G A COL7A1 stop_gained ENST00000328333 37.53531922753906 0.9991315217379638 0.43902278176907233 2.4411e-40 0.595 False 1 1 1.3230e-01
3 48630664 279783 0 0 1 1 13.5137 G A COL7A1 stop_gained ENST00000328333 48.372114093236014 1.2875900607286772 0.5657727315579235 2.4411e-40 0.595 False 1 1 1.3230e-01
3 48630987 449472 0 0 1 1 13.5137 G A COL7A1 stop_gained ENST00000328333 26.587247589094936 0.7077109690072048 0.31097131012498924 2.4411e-40 0.595 False 1 1 1.3230e-01
3 48899978 545967 1 1 1 1 13.232999999999999 G A SLC25A20 stop_gained ENST00000319017 50.10548680858973 1.346838984940777 1.0 1.4338e-06 1 True 1 1 8.7653e-01
3 48921428 345943 1 1 1 1 13.232999999999999 AC A SLC25A20 splice_donor_variant ENST00000319017 27.197509511031498 0.7310709552167266 0.5428050148465766 NA NA NA NA NA 8.7121e-01
3 48936218 203941 1 1 1 1 13.232999999999999 G A SLC25A20 stop_gained ENST00000319017 45.30916438449038 1.217913503190638 0.9042755049477514 1.1972e-07 1 True 0.94865 1 8.7653e-01
3 49455249 551739 1 1 1 1 8.0011 A G AMT splice_donor_variant ENST00000273588 41.04911052014839 1.1496329777218357 0.7409435540082568 0.0062593 0.789 True 0.97232 1 3.8305e-01
3 49455407 11981 1 1 1 1 8.0011 C T AMT splice_acceptor_variant ENST00000273588 55.401130488397435 1.5515797006434644 1.0 0.0062593 0.789 True 0.81082 0.856 3.8305e-01
3 52436624 30302 1 1 1 1 17.15 G A BAP1 stop_gained ENST00000296288 52.043708338277774 0.9043971774046594 0.560441736972627 0.99443 0.277 True 0.3451 0.478 8.0613e-01
3 52436840 656678 1 1 1 1 17.15 A T BAP1 stop_gained ENST00000296288 47.28091251864516 0.821630994260436 0.5091527407187294 0.99443 0.277 True 0.3451 0.478 8.0613e-01
3 52437267 422219 0 0 1 1 17.15 G A BAP1 stop_gained ENST00000296288 30.59588027305094 0.5316843984156769 0.32947706518106734 0.99443 0.277 True 0.3451 0.478 4.9658e-01
3 52437840 584646 1 1 1 1 17.15 G A BAP1 stop_gained ENST00000296288 22.089792289836954 0.38386860648994364 0.23787777534629165 0.99443 0.277 True 0.3451 0.478 7.6223e-01
3 52438566 485271 0 0 1 1 17.15 G A BAP1 stop_gained ENST00000296288 NA NA NA 0.99443 0.277 True 0.3451 0.478 4.5268e-01
3 52439179 224520 0 0 1 1 17.15 G A BAP1 stop_gained ENST00000296288 46.50513471583695 0.8081498016714578 0.5007986423427138 0.99443 0.277 True 0.3451 0.478 4.5268e-01
3 52440295 472714 0 0 1 1 17.15 G A BAP1 stop_gained ENST00000296288 49.96850194456521 0.8683349738274911 0.5380945155119771 0.99443 0.277 True 0.3451 0.536 4.5268e-01
3 58094188 21280 0 0 1 1 15.5372 C T FLNB stop_gained ENST00000295956 51.93767035589379 1.3212797872502697 0.7716984685676943 2.4626e-07 0.416 False 1 1 3.0750e-01
3 70005611 14276 1 1 1 1 4.80392 C T MITF stop_gained ENST00000314557 63.93541360141334 1.3507427246534378 0.6691553496044192 0.99929 0.211 True 1 1 9.9184e-01
3 71021785 18428 1 1 1 1 9.76849 G A FOXP1 stop_gained ENST00000318789 94.53444993019835 1.8012476092904077 1.0 0.99999 0.169 True 0.69898 0.199 7.9717e-01
3 71026115 211038 1 1 1 1 9.76849 G A FOXP1 stop_gained ENST00000318789 75.78226739660396 1.443945863920815 0.8016365193065544 0.99999 0.169 True 1 1 7.9746e-01
3 71026133 379850 1 1 1 1 9.76849 G A FOXP1 stop_gained ENST00000318789 75.78226739660396 1.443945863920815 0.8016365193065544 0.99999 0.169 True 1 1 7.9746e-01
3 81627124 2781 1 1 1 1 12.698 G A GBE1 stop_gained ENST00000429644 41.43089898022222 0.9337145881854167 0.5256919615882192 3.8e-12 0.972 True 1 1 9.4162e-01
3 81698005 208584 1 1 1 1 12.698 A G GBE1 splice_donor_variant ENST00000429644 49.86925193068889 1.1238869823173754 0.6327611882835451 3.8e-12 0.972 True 1 1 9.4162e-01
3 100951827 437941 1 1 1 1 0.10927100000000001 C CTTCATCACCTAAAA IMPG2 stop_gained&frameshift_variant ENST00000193391 34.54560579170953 0.9555415403399679 0.528602212037101 NA NA NA NA NA 1.0000e+00
3 101023112 845633 1 1 1 1 0.10927100000000001 G A IMPG2 stop_gained ENST00000193391 30.16695806137952 0.8344268659564104 0.4616020010713655 2.7548e-13 0.72 False 1 1 1.0000e+00
3 121491467 569196 1 1 1 1 8.65858 G A IQCB1 stop_gained ENST00000310864 31.679958411865382 0.8143910354370416 0.5460754807942603 5.1764e-11 0.897 True 1 1 8.5909e-01
3 121491506 30778 1 1 1 1 8.65858 G A IQCB1 stop_gained ENST00000310864 31.679958411865382 0.8143910354370416 0.5460754807942603 5.1764e-11 0.897 True 1 1 8.5909e-01
3 121500619 1830 1 1 1 1 8.65858 G A IQCB1 stop_gained ENST00000310864 34.388967750251965 0.8840310548908221 0.5927713620736224 5.1764e-11 0.897 True 1 1 8.5909e-01
3 121508959 167197 1 1 1 1 8.65858 G A IQCB1 stop_gained ENST00000310864 42.81297663496479 1.100585547449203 0.737978140508399 5.1764e-11 0.897 True 1 1 8.5909e-01
3 121975927 8342 1 1 1 1 0.165332 G T CASR splice_acceptor_variant ENST00000296154 68.48770034441505 1.2827497422881269 1.0 0.55367 0.386 True 1 1 9.7779e-01
3 121980561 532618 1 1 1 1 0.165332 C T CASR stop_gained ENST00000296154 52.32102336400452 0.9799537566441425 0.7639477322335168 0.55367 0.386 True 1 1 9.7779e-01
3 122000981 280428 1 1 1 1 0.165332 C T CASR stop_gained ENST00000296154 65.71714626241463 1.2308582710194298 0.959546691331908 0.55367 0.386 True 1 1 9.7779e-01
3 128202711 29719 1 1 1 1 6.07785 G A GATA2 stop_gained ENST00000341105 91.56582045824138 1.668590252940918 0.9964783386890674 0.97927 0.292 True 0.70742 0.71 6.9536e-01
3 132408107 220868 1 1 1 1 6.828880000000001 CCT C NPHP3 splice_acceptor_variant ENST00000337331 26.765525094814823 0.6515666338997587 0.4095547160689553 NA NA NA NA NA 3.8044e-02
3 135975430 265422 1 1 1 1 11.8175 C T PCCB stop_gained ENST00000251654 30.40615076641177 0.9282780524444566 0.39006005545636796 0.03745 0.868 True 1 0.977 8.0889e-01
3 136047696 38878 1 1 1 1 11.8175 C T PCCB stop_gained ENST00000251654 17.448633937707072 0.5326943240511466 0.22383678794680473 6.1712e-08 0.883 True 1 0.868 8.6119e-01
3 136047701 217895 1 1 1 1 11.8175 T C PCCB splice_donor_variant ENST00000251654 17.448633937707072 0.5326943240511466 0.22383678794680473 6.1712e-08 0.883 True 1 0.868 8.6119e-01
3 148863334 4609 1 0 1 1 4.81188 G A HPS3 splice_donor_variant ENST00000296051 39.0648385079375 1.0457629379546418 0.6761888896076703 9.2795e-20 1 False 1 1 5.4363e-01
3 150645803 371628 1 1 1 1 0.046121300000000004 G A CLRN1 stop_gained ENST00000327047 26.60704486301526 0.9593287046990405 0.6319686652428994 5.3846e-07 1 True 1 1 9.6177e-01
3 150645894 4392 1 1 1 1 0.046121300000000004 A C CLRN1 stop_gained ENST00000327047 28.236107036286764 1.018065257841442 0.6706620358348043 0.0011608 1 True 1 1 9.6789e-01
3 150690307 4397 1 1 1 1 0.046121300000000004 G T CLRN1 stop_gained ENST00000327047 27.724979727099207 0.999636337907504 0.6585217758014378 5.3846e-07 1 True 1 1 9.6177e-01
3 158369895 214495 1 1 1 1 7.46249 C T GFM1 stop_gained ENST00000264263 22.778123523733328 0.5549214327956268 0.3135898888226962 2.023e-12 0.8 True 0.84517 1 8.2933e-01
3 167413457 468330 1 1 1 1 13.3146 G A PDCD10 stop_gained ENST00000392750 51.79469761297618 1.0307914222097028 0.881391503999257 0.96308 0.291 True 0.54558 1 9.8922e-01
3 167422677 372445 1 1 1 1 13.3146 G A PDCD10 stop_gained ENST00000392750 37.42739736994339 0.7448608051127262 0.6369028410044753 0.96197 0.325 True 0.69042 0.291 9.8957e-01
3 180337086 419341 0 0 1 1 0.820207 G T CCDC39 stop_gained ENST00000442201 57.625324029358495 1.3541042529128953 0.834846519501691 7.9127e-12 0.754 True 0.79163 0.643 7.2510e-02
3 180379648 31067 0 0 1 1 0.820207 C G CCDC39 splice_donor_variant ENST00000273654 36.556155752595885 0.8590120196029959 0.5296070765843837 3.928e-07 0.643 True 0.87829 1 5.0978e-01
3 181430628 279896 1 1 1 1 7.305680000000001 C G SOX2 stop_gained ENST00000431565 67.75970311014692 1.0 1.0 0.70662 0.569 True 1 1 1.0000e+00
3 182737965 503626 1 1 1 1 10.325 C A MCCC1 stop_gained ENST00000265594 30.207079210299064 0.7632156417101081 0.4491466988812672 1.748e-09 0.884 True 0.85591 1 4.9043e-01
3 182759397 488805 1 1 1 1 10.325 G A MCCC1 stop_gained ENST00000265594 34.01765512534973 0.859494104187172 0.5058058542125755 5.1147e-09 0.884 True 1 1 4.9308e-01
3 182759508 193913 1 1 1 1 10.325 G A MCCC1 stop_gained ENST00000265594 34.01765512534973 0.859494104187172 0.5058058542125755 5.1147e-09 0.884 True 1 1 4.9308e-01
3 182763304 265231 1 1 1 1 10.325 G C MCCC1 stop_gained ENST00000265594 51.39758801303937 1.2986175473843582 0.7642267173797195 5.1147e-09 0.884 True 1 1 4.9308e-01
3 182769957 488806 1 1 1 1 10.325 A T MCCC1 stop_gained ENST00000265594 37.94445920311249 0.9587092011919083 0.5641931970073502 5.1147e-09 0.884 True 1 1 4.9308e-01
3 182775131 203795 1 1 1 1 10.325 G A MCCC1 stop_gained ENST00000265594 67.25437209165455 1.6992569323366344 1.0 5.1147e-09 0.884 True 1 1 4.9308e-01
3 182810335 167274 1 1 1 1 10.325 T C MCCC1 splice_acceptor_variant ENST00000265594 23.15625786764925 0.5850687544142633 0.3443085876423291 4.0152e-12 0.902 True 0.85591 0.884 4.7596e-01
3 184071901 100629 1 1 1 1 3.7076800000000003 C T CLCN2 stop_gained ENST00000265593 35.19716634847418 0.9374166171502222 0.5868574308497682 2.431e-11 0.752 True 0.89229 0.453 6.0778e-01
3 193360552 280005 1 1 1 1 6.08629 A G OPA1 splice_acceptor_variant ENST00000361150 41.54116356158749 0.9097917668976216 0.6045433616829551 0.99982 0.247 True 1 1 7.1334e-01
3 193360794 5085 1 1 1 1 6.08629 C T OPA1 stop_gained ENST00000361150 34.528023743040535 0.7561972038190888 0.5024820143744894 0.99982 0.247 True 1 1 7.1334e-01
3 193364933 95713 1 1 1 1 6.08629 C T OPA1 stop_gained ENST00000361150 59.50479326752173 1.3032126778412139 0.8659658197793184 0.99982 0.247 True 1 1 7.1334e-01
3 193380752 195831 1 1 1 1 6.08629 G T OPA1 splice_donor_variant ENST00000361150 67.92331270693573 1.4875864174956492 0.9884794810722031 0.99982 0.247 True 0.85221 1 7.2336e-01
3 193382741 195896 1 1 1 1 6.08629 C T OPA1 stop_gained ENST00000361150 46.97673399255171 1.0288360305266788 0.6836465388514957 0.99982 0.247 True 0.85221 1 7.2336e-01
3 193384956 5082 1 1 1 1 6.08629 CAGTT C OPA1 splice_acceptor_variant&coding_sequence_variant ENST00000361150 NA NA NA NA NA NA NA NA 7.2336e-01
4 509770 807654 0 0 1 1 8.410219999999999 C T PIGG stop_gained ENST00000296306 24.94557122548113 0.8096248354329184 0.5580244450898519 0.00016373 0.988 True 1 1 2.5034e-01
4 515631 476318 0 0 1 1 8.410219999999999 G A PIGG stop_gained ENST00000310340 NA NA NA 4.2254e-07 0.988 True 0.9691 1 1.7927e-01
4 647739 856142 0 0 1 1 1.00021 C A PDE6B stop_gained ENST00000255622 25.484293012749998 0.9034867635636419 0.3186343965137034 2.5394e-26 1 True 1 1 2.9243e-01
4 647908 13103 0 0 1 1 1.00021 C T PDE6B stop_gained ENST00000255622 NA NA NA 0.043241 1 True 1 1 3.0971e-01
4 658734 167440 0 0 1 1 1.00021 G A PDE6B splice_donor_variant ENST00000255622 79.97973003411765 2.835496648977713 1.0 9.3285e-08 1 True 1 1 6.7814e-01
4 661687 620164 0 0 1 1 1.00021 C T PDE6B stop_gained ENST00000255622 22.509753650399997 0.7980313389129481 0.2814432311886751 9.3285e-08 1 True 1 1 5.1152e-01
4 661693 620165 0 0 1 1 1.00021 C T PDE6B stop_gained ENST00000255622 22.509753650399997 0.7980313389129481 0.2814432311886751 9.3285e-08 1 True 1 1 5.1152e-01
4 981646 11909 1 1 1 1 7.150010000000001 C T IDUA stop_gained ENST00000247933 16.040634474205888 0.592695236446404 0.3122253021170015 3.7599e-13 1 True 0.85538 1 4.1949e-01
4 994668 222994 1 1 1 1 7.150010000000001 A G IDUA splice_acceptor_variant ENST00000247933 31.851481766 1.1768999254253178 0.6199778776366542 0.0002474 0.994 True 1 1 5.5140e-01
4 996535 11908 1 1 1 1 7.150010000000001 G A IDUA stop_gained ENST00000247933 NA NA NA 5.7467e-07 0.994 True 1 1 6.1138e-01
4 996540 552095 1 1 1 1 7.150010000000001 G T IDUA stop_gained ENST00000247933 NA NA NA 5.7467e-07 0.994 True 1 1 6.1138e-01
4 996734 553131 1 1 1 1 7.150010000000001 T G IDUA splice_donor_variant ENST00000247933 NA NA NA 5.7467e-07 0.994 True 1 1 6.1138e-01
4 1940175 547999 1 1 1 1 6.2137400000000005 TAGAG T WHSC1 splice_acceptor_variant&coding_sequence_variant&NMD_transcript_variant ENST00000312087 NA NA NA NA NA NA NA NA 8.0532e-01
4 5577974 3386 1 1 1 1 2.6356 G A EVC2 stop_gained ENST00000310917 16.977828156406538 0.6477162898439411 0.34457512538523777 2.1018e-34 1 True 1 1 9.9325e-01
4 5624289 280117 1 1 1 1 2.6356 G A EVC2 stop_gained ENST00000310917 26.70351329624671 1.0187581355343474 0.5419636927358382 2.1018e-34 1 True 1 1 9.9325e-01
4 5642516 3383 1 1 1 1 2.6356 G A EVC2 stop_gained ENST00000310917 24.733694623806954 0.9436081440028012 0.5019850506039241 2.1018e-34 1 True 1 1 9.9325e-01
4 5749953 5340 1 1 1 1 5.57509 C T EVC stop_gained ENST00000264956 29.37487256243038 1.1371871482761304 0.7158132924642578 7.217e-15 1 True 1 1 9.9335e-01
4 5811287 850722 1 1 1 1 5.57509 C T EVC stop_gained ENST00000264956 25.06124302534408 0.9701939447627056 0.6106978283937187 1.6419e-22 1 True 1 1 9.9272e-01
4 15517628 166801 0 0 1 1 1.96271 G A CC2D2A splice_donor_variant ENST00000389652 51.15222737999265 1.2286788368567645 0.7318807337767104 1.4234e-11 0.764 True 1 1 1.7059e-01
4 15529187 411851 0 0 1 1 1.96271 C T CC2D2A stop_gained ENST00000389652 37.580571501799035 0.9026870430925416 0.5376988971010622 1.4234e-11 0.764 True 1 1 1.7059e-01
4 15534907 217618 0 0 1 1 1.96271 C T CC2D2A stop_gained ENST00000389652 56.75046950701428 1.3631488683174446 0.8119797981898242 1.4234e-11 0.764 True 1 1 1.7059e-01
4 15558984 210609 0 0 1 1 1.96271 C T CC2D2A stop_gained ENST00000389652 40.8944659002857 0.9822869378293116 0.5851137524895804 8.3463e-24 0.764 True 1 1 1.3960e-01
4 15560806 745 0 0 1 1 1.96271 C T CC2D2A stop_gained ENST00000389652 63.42308896355434 1.5234254922803763 0.907450941367754 8.3463e-24 0.764 True 1 1 1.3960e-01
4 15569298 56303 0 0 1 1 1.96271 AG A CC2D2A splice_acceptor_variant ENST00000389652 48.69237427000917 1.169593052858331 0.6966854120609292 NA NA NA NA NA 1.3960e-01
4 15575830 238273 0 0 1 1 1.96271 C T CC2D2A stop_gained ENST00000413206 25.193364047079545 0.6051457545323253 0.3604640249212745 1.6721e-27 0.781 True 0.93557 0.764 7.3939e-02
4 15991381 634483 0 0 1 1 2.06692 G A PROM1 stop_gained ENST00000447510 67.97419149270651 1.68348611087945 0.8869468747972761 1.2243e-18 1 True 1 1 2.5097e-01
4 15991448 802053 0 0 1 1 2.06692 C A PROM1 splice_acceptor_variant ENST00000447510 67.97419149270651 1.68348611087945 0.8869468747972761 1.2243e-18 1 True 1 1 2.5097e-01
4 16002140 100577 0 0 1 1 2.06692 G T PROM1 stop_gained ENST00000447510 38.403373810048784 0.9511190203279687 0.501098308556551 1.2243e-18 1 True 1 1 2.5097e-01
4 16010732 809626 0 0 1 1 2.06692 C T PROM1 splice_acceptor_variant ENST00000447510 20.536464680522013 0.5086173486879176 0.26796572004432073 1.2243e-18 1 True 1 1 2.5097e-01
4 16025970 836421 0 0 1 1 2.06692 A T PROM1 stop_gained ENST00000447510 26.495455542 0.6562009849159728 0.34572035317004945 1.2243e-18 1 True 1 1 2.5097e-01
4 47942792 242520 1 1 1 1 0.5469930000000001 G A CNGA1 stop_gained ENST00000358519 57.739031121415096 1.5359650442082557 1.0 2.7618e-11 0.928 True 0.96092 1 8.5586e-01
4 47954625 548707 1 1 1 1 0.5469930000000001 G A CNGA1 stop_gained ENST00000358519 53.93398325184745 1.4347437315938267 0.9340992081843859 0.00047295 0.928 True 1 1 9.9842e-01
4 52904398 534947 1 1 1 1 18.7122 C A SGCB stop_gained ENST00000381431 NA NA NA 1.5082e-05 1 True 1 1 9.5962e-01
4 56212560 96125 0 0 1 1 5.9122900000000005 G A SRD5A3 stop_gained ENST00000264228 43.124691704985075 0.8934425653345334 0.8212490010536887 0.00024941 0.973 True 0.73818 1 2.7647e-01
4 56225611 18405 1 1 1 1 5.9122900000000005 G A SRD5A3 stop_gained ENST00000264228 47.76744738890141 0.9896295845215063 0.9096637425116982 0.011341 0.973 True 1 1 9.0208e-01
4 79173606 197861 0 0 1 1 2.21679 C T FRAS1 stop_gained ENST00000264895 24.313273958924047 0.6335846316374345 0.3107732161652721 1.0095e-12 0.658 True 0.9547 0.908 1.0235e-01
4 79285209 195697 0 0 1 1 2.21679 G A FRAS1 splice_donor_variant ENST00000264895 45.034860127013694 1.1735727287334061 0.5756373388820474 1.8667e-28 0.658 False 1 1 9.6930e-02
4 88940651 543947 1 1 1 1 18.1145 C T PKD2 stop_gained ENST00000237596 38.14022430687611 0.9554125625178477 0.7158660343008093 0.00017271 0.497 True 1 1 8.7537e-01
4 88959532 411870 1 1 1 1 18.1145 C T PKD2 stop_gained ENST00000237596 52.935637760592 1.3260376476665283 0.9935658682014439 0.00017271 0.497 True 0.94709 0.559 8.7537e-01
4 88959640 636770 1 1 1 1 18.1145 C T PKD2 stop_gained ENST00000237596 52.935637760592 1.3260376476665283 0.9935658682014439 0.00017271 0.497 True 0.94709 0.559 8.7537e-01
4 88959654 280008 1 1 1 1 18.1145 G A PKD2 splice_donor_variant ENST00000237596 52.935637760592 1.3260376476665283 0.9935658682014439 0.00017271 0.497 True 0.94709 0.559 8.7537e-01
4 88964610 430967 1 1 1 1 18.1145 G A PKD2 splice_donor_variant ENST00000237596 48.822789737040175 1.2230108107551447 0.9163705119126985 0.072024 0.497 True 1 1 8.7537e-01
4 88986631 13518 1 1 1 1 18.1145 C T PKD2 stop_gained ENST00000237596 28.50422872141322 0.7140308873435357 0.535004959892765 0.072024 0.497 True 1 1 8.9916e-01
4 88995974 523770 1 1 1 1 18.1145 C T PKD2 stop_gained ENST00000237596 41.671976457210874 1.0438829486639754 0.7821546168128345 0.072024 0.497 True 1 1 8.9916e-01
4 88996055 448036 1 1 1 1 18.1145 C T PKD2 stop_gained ENST00000237596 41.671976457210874 1.0438829486639754 0.7821546168128345 0.072024 0.497 True 1 1 8.9916e-01
4 100543913 14243 1 1 1 1 1.02637 G T MTTP stop_gained ENST00000265517 20.969534702291657 0.5027677594578057 0.3339001466343415 1.04e-05 0.587 True 1 1 8.9066e-01
4 104577415 66084 1 1 1 1 0.043909500000000004 C T TACR3 stop_gained ENST00000304883 43.69277045006711 1.1156776792127747 0.9009186229061739 1.8068e-17 1 False 1 1 1.0000e+00
4 107249343 243083 1 1 1 1 13.0567 C T AIMP1 stop_gained NM_001142415.1 22.763270684904192 0.6410927677198268 0.41177160930649154 0.059312 1 False 1 1 1.0000e+00
4 122766825 285609 1 1 1 1 3.4057 TTA T BBS7 stop_gained&frameshift_variant ENST00000264499 34.09260064072395 0.8387516812077437 0.4607019201083849 NA NA NA NA NA 8.3703e-01
4 123664110 1147 1 1 1 1 1.94182 C T BBS12 stop_gained ENST00000314218 37.3332475093363 1.0 1.0 2.3352e-07 0.963 True 0.90236 1 1.0000e+00
4 123850300 488607 1 0 1 1 0.8442930000000001 C T SPATA5 stop_gained ENST00000274008 32.38176379129936 0.8330442582548729 0.4563920347689631 9.0776e-20 1 True 1 1 8.1712e-01
4 123868644 207803 1 1 1 1 0.8442930000000001 G A SPATA5 splice_donor_variant ENST00000274008 31.58232377250587 0.812478086450049 0.44512464182506994 9.0776e-20 1 False 1 1 8.1712e-01
4 128854139 504888 1 1 1 1 4.5328599999999994 C T MFSD8 splice_donor_variant ENST00000296468 35.420106592796294 1.01406346828956 0.7734799604629166 0.00023697 1 True 1 1 6.4573e-01
4 128859936 65897 1 1 1 1 4.5328599999999994 A T MFSD8 splice_donor_variant ENST00000296468 25.91889595649091 0.7420476123925871 0.5659990482283396 0.00023697 1 True 1 1 6.6720e-01
4 140262203 521938 1 1 1 1 5.7083699999999995 C T NAA15 stop_gained ENST00000296543 99.938265463 1.5341935653146619 1.0 0.99586 0.279 True 1 1 9.1975e-01
4 146560355 218969 0 0 1 1 1.54921 C T MMAA stop_gained ENST00000281317 31.796402726598163 0.8520205546305122 0.6671907894364036 9.3982e-13 1 True 0.84733 1 3.7655e-01
4 146560363 440795 0 0 1 1 1.54921 C A MMAA stop_gained ENST00000281317 31.796402726598163 0.8520205546305122 0.6671907894364036 9.3982e-13 1 True 0.84733 1 3.7655e-01
4 146560678 203814 0 0 1 1 1.54921 C A MMAA stop_gained ENST00000281317 31.796402726598163 0.8520205546305122 0.6671907894364036 9.3982e-13 1 True 0.84733 1 3.7655e-01
4 146560724 3160 0 0 1 1 1.54921 C T MMAA stop_gained ENST00000281317 31.796402726598163 0.8520205546305122 0.6671907894364036 9.3982e-13 1 True 0.84733 1 3.7655e-01
4 159624692 95071 1 1 1 1 9.46815 G T ETFDH stop_gained ENST00000307738 57.37408682067857 1.631305004546065 0.9802989464505347 8.6222e-11 1 True 0.96608 1 5.8403e-01
4 178360805 291257 1 1 1 1 6.14113 G A AGA stop_gained ENST00000264595 NA NA NA 4.2802e-06 1 True 1 1 7.2533e-01
4 187195347 11891 0 1 1 1 0.6456270000000001 G T F11 stop_gained ENST00000403665 31.658777259591194 0.9337095808756906 0.4240727749698743 3.084e-09 1 True 0.90294 1 5.6953e-02
4 187201251 449563 1 1 1 1 0.6456270000000001 C T F11 stop_gained ENST00000264692 43.86059453455046 1.2935767229420325 0.5875174484339986 3.96e-08 1 False 1 1 9.5068e-01
4 187208978 11890 1 1 1 1 0.6456270000000001 G A F11 splice_donor_variant ENST00000264691 29.919398934316547 0.8824102462943327 0.40077361255834415 0.0009038 1 True 1 1 9.7885e-01
5 224547 209127 1 1 1 1 59.5995 C T SDHA stop_gained ENST00000264932 NA NA NA 6.6927e-09 0.859 True 1 1 7.0232e-01
5 226094 480771 1 1 1 1 59.5995 C T SDHA stop_gained ENST00000264932 NA NA NA 6.6927e-09 0.859 True 1 1 7.0232e-01
5 226156 230290 1 1 1 1 59.5995 T A SDHA stop_gained ENST00000264932 NA NA NA 6.6927e-09 0.859 True 1 1 7.0232e-01
5 228306 539663 1 1 1 1 59.5995 C T SDHA stop_gained ENST00000264932 NA NA NA 6.6927e-09 0.859 True 1 1 7.0232e-01
5 233681 412328 1 1 1 1 59.5995 C T SDHA stop_gained ENST00000264932 NA NA NA 6.6927e-09 0.859 True 0.90268 1 7.0232e-01
5 233750 239634 1 1 1 1 59.5995 C T SDHA stop_gained ENST00000264932 NA NA NA 6.6927e-09 0.859 True 0.90268 1 7.0232e-01
5 235345 230877 1 1 1 1 59.5995 C G SDHA stop_gained ENST00000264932 NA NA NA 6.6927e-09 0.859 True 0.90268 1 7.0232e-01
5 240566 418987 1 1 1 1 59.5995 CG GA SDHA stop_gained ENST00000264932 NA NA NA 0.00070311 0.859 True 1 1 7.0313e-01
5 1272362 446373 0 0 1 1 0.06892960000000001 G A TERT stop_gained ENST00000310581 50.53366785796842 0.8073939837504904 0.5680004462858047 0.99046 0.293 True 0.4718 0.324 3.9188e-02
5 1411357 29685 1 1 1 1 0.695909 C T SLC6A3 splice_donor_variant ENST00000270349 66.88765708375001 1.2255472555427565 0.7739573426771824 0.99767 0.25 True 0.57895 0.244 7.3189e-01
5 7895862 265421 1 1 1 1 6.22635 C T MTRR stop_gained ENST00000264668 31.619190202364408 0.9712722782590515 0.5530251267434402 2.1618e-09 0.798 True 1 1 4.3873e-01
5 13701398 407248 1 1 1 1 0.278723 G A DNAH5 stop_gained ENST00000265104 23.585172032618427 0.6584244790272488 0.4476726828035077 4.8607e-64 0.695 False 1 1 6.1563e-01
5 13735276 407242 1 1 1 1 0.278723 G A DNAH5 stop_gained ENST00000265104 39.43457913037894 1.1008905164511522 0.7485119807525116 4.8607e-64 0.695 False 1 1 6.1563e-01
5 13758990 238953 1 1 1 1 0.278723 G A DNAH5 stop_gained ENST00000265104 26.81080597341606 0.7484741231029848 0.5088987869854839 4.8607e-64 0.695 True 1 1 6.1563e-01
5 13792237 407217 1 1 1 1 0.278723 G A DNAH5 stop_gained ENST00000265104 39.04099495274766 1.0899028731661322 0.7410413172158824 4.8607e-64 0.695 False 1 1 6.1563e-01
5 13794140 520775 1 1 1 1 0.278723 G A DNAH5 stop_gained ENST00000265104 32.54279511670588 0.9084933911516075 0.617698288385273 4.8607e-64 0.695 False 1 1 6.1563e-01
5 13839639 454788 1 1 1 1 0.278723 T C DNAH5 splice_acceptor_variant ENST00000265104 29.60031428433139 0.826348499165049 0.5618467437577758 4.8607e-64 0.695 False 1 1 6.1563e-01
5 13841077 430011 1 1 1 1 0.278723 G A DNAH5 stop_gained ENST00000265104 30.49061934355803 0.8512030409926816 0.5787457196832559 4.8607e-64 0.695 False 1 1 6.1563e-01
5 13850816 576377 1 1 1 1 0.278723 G A DNAH5 stop_gained ENST00000265104 27.476253855460115 0.7670513535106614 0.5215297246868741 4.8607e-64 0.695 False 1 1 6.1563e-01
5 13923478 454767 1 1 1 1 0.278723 C A DNAH5 stop_gained ENST00000265104 42.223757681924994 1.178755686659614 0.8014536783268073 4.8607e-64 0.695 True 1 1 6.1563e-01
5 35861094 265195 1 1 1 1 6.073119999999999 T G IL7R splice_donor_variant ENST00000303115 47.02001081248551 1.4403982330255434 0.517657142513107 0.0016938 1 True 0.89143 1 9.4480e-01
5 35873748 578174 1 1 1 1 6.073119999999999 C G IL7R stop_gained&splice_region_variant ENST00000303115 37.55144607707894 1.150340794107514 0.4134149256370229 0.36224 1 True 1 0.68 8.7098e-01
5 36953863 159191 0 0 1 1 8.34652 G A NIPBL splice_donor_variant ENST00000282516 73.80335826258731 1.2002035547427663 0.7789693681280826 1.0 0.032 True 1 1 3.5961e-01
5 36955642 99920 0 0 1 1 8.34652 C T NIPBL stop_gained ENST00000282516 79.21396759159393 1.2881918618180828 0.8360765110741879 1.0 0.032 True 1 1 3.5961e-01
5 36971139 159235 0 0 1 1 8.34652 G A NIPBL splice_donor_variant ENST00000282516 55.516525046675 0.9028197669666487 0.585958057388258 1.0 0.032 True 1 1 3.5961e-01
5 36985167 159041 0 0 1 1 8.34652 C T NIPBL stop_gained ENST00000282516 42.039412368005515 0.6836525241013933 0.4437117125790956 1.0 0.032 True 1 1 3.5961e-01
5 36985884 96337 0 0 1 1 8.34652 C T NIPBL stop_gained ENST00000282516 42.039412368005515 0.6836525241013933 0.4437117125790956 1.0 0.032 True 1 1 3.5961e-01
5 37000615 99926 0 0 1 1 8.34652 C T NIPBL stop_gained ENST00000282516 46.23000489241115 0.7518006973372949 0.48794199271356065 1.0 0.032 True 1 1 3.5961e-01
5 37014817 159121 0 0 1 1 8.34652 T G NIPBL stop_gained ENST00000282516 55.03433484843902 0.8949783027892888 0.5808687036937955 1.0 0.032 False 1 1 3.5961e-01
5 37052624 96352 0 0 1 1 8.34652 C T NIPBL stop_gained ENST00000282516 67.21839262663 1.093117653095642 0.7094672934076284 1.0 0.032 True 1 1 3.5961e-01
5 37064956 96355 0 0 1 1 8.34652 C T NIPBL stop_gained ENST00000282516 73.57722219701657 1.1965260891620284 0.7765825787968726 1.0 0.032 True 0.60115 0.033 2.8675e-01
5 37120408 217569 1 0 1 1 1.08626 G A C5orf42 stop_gained NM_023073.3 29.59474163116936 0.726767912752538 0.3060317200028577 8.4276e-30 0.674 True 1 1 7.8456e-01
5 37125432 217571 1 0 1 1 1.08626 G A C5orf42 stop_gained ENST00000274258 39.24069639900001 0.9636468320041361 0.4057780927017141 8.4276e-30 0.674 True 1 1 7.8456e-01
5 37157912 217575 1 0 1 1 1.08626 A T C5orf42 stop_gained ENST00000274258 28.643372899756944 0.7034048344123501 0.29619385715345076 1.315e-05 0.674 True 1 1 7.8870e-01
5 37165697 31223 1 0 1 1 1.08626 G A C5orf42 stop_gained ENST00000274258 59.55246844303031 1.4624497733076645 0.6158169777309984 1.315e-05 0.674 True 1 1 7.8870e-01
5 37167148 31220 1 0 1 1 1.08626 C T C5orf42 splice_donor_variant&NMD_transcript_variant ENST00000509849 41.91809378128658 1.029396569960427 0.433464380226838 1.315e-05 0.674 True 1 1 7.8870e-01
5 37224781 217584 0 0 1 1 1.08626 G A C5orf42 stop_gained NM_023073.3 30.79762679191346 0.7563075636962807 0.3184704504805965 5.8778e-36 0.674 True 0.90415 0.774 2.9819e-01
5 37226913 217580 0 0 1 1 1.08626 A C C5orf42 stop_gained ENST00000425232 45.81327397712964 1.125051805475184 0.47374345108040633 5.8778e-36 0.674 True 0.90415 0.774 2.9819e-01
5 37227771 392297 0 0 1 1 1.08626 G A C5orf42 stop_gained ENST00000425232 33.50671017517269 0.8228354253164769 0.3464843949083731 5.8778e-36 0.674 True 0.90415 0.774 2.9819e-01
5 40980013 636459 1 1 1 1 105.443 T C C7 splice_donor_variant ENST00000313164 29.975451112530056 0.8036447500091418 0.3241435601969587 1.0747e-14 0.904 True 1 1 8.2737e-01
5 60240799 1716 1 1 1 1 2.30398 C A ERCC8 stop_gained ENST00000265038 23.85800442755263 0.7049315574713493 0.5084746657178817 2.7974e-15 1 True 0.95665 1 7.4949e-01
5 60837744 431797 1 1 1 1 6.46045 C T ZSWIM6 stop_gained ENST00000252744 56.72613200504939 1.042507726570988 0.7291508291086175 1.0 0.067 False 1 1 1.0000e+00
5 67589663 156009 1 1 1 1 15.3503 G C PIK3R1 splice_donor_variant ENST00000274335 73.56832311912 1.321458412302762 0.7381375299528046 0.99979 0.227 True 0.57785 0.473 8.9594e-01
5 70900209 488740 1 1 1 1 16.1078 C T MCCC2 stop_gained ENST00000323375 37.71625736930357 1.1344994442509648 0.7163016777734101 3.1402e-07 0.897 True 1 1 8.4173e-01
5 73981383 623479 1 1 1 1 34.5903 C T HEXB stop_gained&splice_region_variant ENST00000261416 36.561096433359054 1.0471473869781398 0.6339732380184993 3.4915e-10 0.916 True 0.8952 1 4.8169e-01
5 73992558 280067 1 1 1 1 34.5903 T G HEXB stop_gained ENST00000261416 57.66977885002175 1.6517217513014077 1.0 3.4915e-10 0.916 True 0.8952 1 4.8169e-01
5 74009409 3887 1 1 1 1 34.5903 C T HEXB stop_gained ENST00000261416 26.54111476668217 0.7601648114157697 0.46022570739704094 1.1618e-09 0.916 True 0.93033 1 4.8882e-01
5 78135250 887 1 1 1 1 3.26229 C G ARSB splice_acceptor_variant ENST00000264914 27.756667606371426 0.743586673458895 0.5683688951757874 7.5763e-06 0.971 False 1 1 9.3307e-01
5 78181570 559832 1 1 1 1 3.26229 G A ARSB stop_gained ENST00000264914 44.516757297871884 1.19258075002862 0.9115626025795748 7.5763e-06 0.971 True 1 1 9.3307e-01
5 78181583 559831 1 1 1 1 3.26229 C T ARSB stop_gained ENST00000264914 44.516757297871884 1.19258075002862 0.9115626025795748 7.5763e-06 0.971 True 1 1 9.3307e-01
5 78251263 488822 1 1 1 1 3.26229 G C ARSB stop_gained ENST00000264914 37.62313821395169 1.0079042839845365 0.770403054248526 7.5763e-06 0.971 False 1 1 9.3307e-01
5 78260358 488679 1 1 1 1 3.26229 G A ARSB stop_gained ENST00000264914 43.13892807795263 1.1556694226040325 0.8833490114319593 7.5763e-06 0.971 False 1 1 9.3307e-01
5 78264850 445291 1 1 1 1 3.26229 G A ARSB stop_gained ENST00000264914 30.234557600323864 0.8099680562649935 0.619108256910501 7.5763e-06 0.971 False 1 1 9.3307e-01
5 79961177 643818 1 1 1 1 3.1461200000000002 C T MSH3 stop_gained ENST00000265081 40.45210459915454 1.2906350134135847 0.7481928637707124 7.4413e-31 1 False 1 1 9.9775e-01
5 79968072 652518 1 1 1 1 3.1461200000000002 C T MSH3 stop_gained ENST00000265081 27.029329134051725 0.8623778395504333 0.499928282372482 7.4413e-31 1 False 1 1 9.9775e-01
5 79974836 818733 1 1 1 1 3.1461200000000002 C T MSH3 stop_gained ENST00000265081 22.28011173281325 0.7108528119878488 0.4120878448152089 7.4413e-31 1 False 1 1 9.9775e-01
5 80021291 644460 1 1 1 1 3.1461200000000002 C T MSH3 stop_gained ENST00000265081 24.817587526063637 0.7918116431020846 0.4590204160451504 7.4413e-31 1 True 1 1 9.9775e-01
5 80074538 253325 1 1 1 1 3.1461200000000002 G A MSH3 splice_acceptor_variant ENST00000265081 21.964054495775862 0.7007689228946782 0.406242122531098 7.4413e-31 1 False 1 1 9.9775e-01
5 80109433 640896 1 1 1 1 3.1461200000000002 G T MSH3 stop_gained ENST00000265081 19.469540194197453 0.6211807894469733 0.36010415721361594 7.4413e-31 1 False 1 1 9.9775e-01
5 86627281 464870 1 1 1 1 10.9072 C G RASA1 stop_gained ENST00000274376 67.24427787695394 1.183663030879381 0.7821532736773923 1.0 0.129 True 1 1 8.8849e-01
5 86648999 618858 1 1 1 1 10.9072 C T RASA1 stop_gained ENST00000274376 48.06901769719231 0.8461317598348878 0.5591158198339562 1.0 0.129 True 1 1 8.8849e-01
5 86672329 213660 1 1 1 1 10.9072 C T RASA1 stop_gained ENST00000274376 52.35439839795349 0.9215648950975897 0.608961318215061 1.0 0.129 True 1 1 8.8849e-01
5 86675668 533449 1 1 1 1 10.9072 G A RASA1 splice_donor_variant ENST00000274376 55.32257026485217 0.9738119474724103 0.6434856735331452 1.0 0.129 True 1 1 8.8849e-01
5 88047698 158886 1 1 1 1 4.73805 G A MEF2C stop_gained ENST00000340208 70.20601864389785 0.9585162256948324 0.703727480936491 0.99789 0.166 True 1 1 8.8544e-01
5 89938703 46306 0 0 0 0 4.10608 C T GPR98 stop_gained ENST00000405460 31.898018609210812 0.807975346074043 0.44033499366002826 0.00022033 0.516 True 1 1 4.3497e-02
5 90074375 438168 0 0 0 0 4.10608 T A GPR98 stop_gained ENST00000405460 32.21098185651648 0.8159026907517227 0.44465528299230583 3.1737e-39 0.516 True 0.98655 0.526 3.9275e-02
5 90144496 503694 1 1 1 1 4.10608 C T GPR98 stop_gained ENST00000405460 49.65695849628571 1.25780847762235 0.6854876088862886 6.6889e-10 0.516 True 1 1 8.7085e-01
5 94848293 196135 1 1 1 1 15.7222 C T TTC37 stop_gained ENST00000358746 43.153504763702124 1.1360492421952342 0.6290541962810612 1.725e-29 0.783 True 1 1 6.9845e-01
5 112102931 566516 1 1 1 1 5.03506 C A APC stop_gained ENST00000257430 28.648804211706768 0.6466327811439059 0.4312316217781755 1.0 0.161 True 1 1 9.0590e-01
5 112102931 230927 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 28.648804211706768 0.6466327811439059 0.4312316217781755 1.0 0.161 True 1 1 9.0590e-01
5 112102953 217957 1 1 1 1 5.03506 T G APC stop_gained ENST00000257430 28.648804211706768 0.6466327811439059 0.4312316217781755 1.0 0.161 True 1 1 9.0590e-01
5 112103015 418932 1 1 1 1 5.03506 C A APC stop_gained ENST00000257430 28.648804211706768 0.6466327811439059 0.4312316217781755 1.0 0.161 True 1 1 9.0590e-01
5 112111325 835 1 1 1 1 5.03506 G A APC splice_acceptor_variant ENST00000257430 58.341308667203705 1.3168229431242107 0.8781733774053582 1.0 0.161 True 1 1 9.0509e-01
5 112111351 236598 1 1 1 1 5.03506 A T APC stop_gained ENST00000257430 58.341308667203705 1.3168229431242107 0.8781733774053582 1.0 0.161 True 1 1 9.0509e-01
5 112111380 246084 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 58.341308667203705 1.3168229431242107 0.8781733774053582 1.0 0.161 True 1 1 9.0509e-01
5 112111384 229997 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 58.341308667203705 1.3168229431242107 0.8781733774053582 1.0 0.161 True 1 1 9.0509e-01
5 112111390 217991 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 58.341308667203705 1.3168229431242107 0.8781733774053582 1.0 0.161 True 1 1 9.0509e-01
5 112116486 439410 1 1 1 1 5.03506 G A APC splice_acceptor_variant ENST00000257430 51.106445319539816 1.1535246856079575 0.7692717341918626 1.0 0.161 True 1 1 9.0509e-01
5 112116517 224515 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 51.106445319539816 1.1535246856079575 0.7692717341918626 1.0 0.161 True 1 1 9.0509e-01
5 112116538 419992 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 51.106445319539816 1.1535246856079575 0.7692717341918626 1.0 0.161 True 1 1 9.0509e-01
5 112116562 428106 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 51.106445319539816 1.1535246856079575 0.7692717341918626 1.0 0.161 True 1 1 9.0509e-01
5 112116592 140952 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 51.106445319539816 1.1535246856079575 0.7692717341918626 1.0 0.161 True 1 1 9.0509e-01
5 112116598 814 1 1 1 1 5.03506 C T APC stop_gained&splice_region_variant ENST00000257430 51.106445319539816 1.1535246856079575 0.7692717341918626 1.0 0.161 True 1 1 9.0509e-01
5 112116601 482288 1 1 1 1 5.03506 G T APC splice_donor_variant ENST00000257430 51.106445319539816 1.1535246856079575 0.7692717341918626 1.0 0.161 True 1 1 9.0509e-01
5 112128143 127312 1 1 1 1 5.03506 C T APC stop_gained&splice_region_variant ENST00000257430 23.653778654325304 0.5338899509655136 0.35604478479833224 1.0 0.161 True 0.90104 0.254 9.0486e-01
5 112128164 433610 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 23.653778654325304 0.5338899509655136 0.35604478479833224 1.0 0.161 True 0.90104 0.254 9.0486e-01
5 112128191 42248 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 23.653778654325304 0.5338899509655136 0.35604478479833224 1.0 0.161 True 0.90104 0.254 9.0486e-01
5 112128194 470070 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 23.653778654325304 0.5338899509655136 0.35604478479833224 1.0 0.161 True 0.90104 0.254 9.0486e-01
5 112151196 799 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 40.275090464081636 0.9090499402753247 0.6062344679290875 1.0 0.161 True 1 1 9.0509e-01
5 112151204 184999 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 40.275090464081636 0.9090499402753247 0.6062344679290875 1.0 0.161 True 1 1 9.0509e-01
5 112151261 798 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 40.275090464081636 0.9090499402753247 0.6062344679290875 1.0 0.161 True 1 1 9.0509e-01
5 112154723 184937 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 43.84867255720901 0.989709339196441 0.6600252506154743 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112154801 216010 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 43.84867255720901 0.989709339196441 0.6600252506154743 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112154942 127275 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 43.84867255720901 0.989709339196441 0.6600252506154743 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112154963 234024 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 43.84867255720901 0.989709339196441 0.6600252506154743 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112154999 575787 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 43.84867255720901 0.989709339196441 0.6600252506154743 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112155042 181775 1 1 1 1 5.03506 GTA G APC splice_donor_variant&intron_variant ENST00000257430 43.84867255720901 0.989709339196441 0.6600252506154743 NA NA NA NA NA 9.0509e-01
5 112157613 438865 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 56.17914939606315 1.268020799326447 0.8456278148699538 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112157650 433620 1 1 1 1 5.03506 C A APC stop_gained ENST00000257430 66.4348409645238 1.499502236124354 1.0 1.0 0.161 True 1 1 9.0939e-01
5 112157650 411488 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 66.4348409645238 1.499502236124354 1.0 1.0 0.161 True 1 1 9.0939e-01
5 112162802 449332 1 1 1 1 5.03506 TAGG T APC splice_acceptor_variant&coding_sequence_variant ENST00000257430 NA NA NA NA NA NA NA NA 9.0939e-01
5 112162803 419874 1 1 1 1 5.03506 A C APC splice_acceptor_variant ENST00000257430 44.78081954815827 1.0107488491438106 0.6740562466623684 1.0 0.161 True 1 1 9.0939e-01
5 112162804 217927 1 1 1 1 5.03506 G T APC splice_acceptor_variant ENST00000257430 44.78081954815827 1.0107488491438106 0.6740562466623684 1.0 0.161 True 1 1 9.0939e-01
5 112162813 230959 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 44.78081954815827 1.0107488491438106 0.6740562466623684 1.0 0.161 True 1 1 9.0939e-01
5 112162891 824 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 44.78081954815827 1.0107488491438106 0.6740562466623684 1.0 0.161 True 1 1 9.0939e-01
5 112162945 428181 1 1 1 1 5.03506 G C APC splice_donor_variant ENST00000257430 76.07568773705883 1.0691531503368088 1.0 1.0 0.161 True 1 1 9.0939e-01
5 112162945 428160 1 1 1 1 5.03506 G T APC splice_donor_variant ENST00000257430 76.07568773705883 1.0691531503368088 1.0 1.0 0.161 True 1 1 9.0939e-01
5 112163698 806 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 29.798813904870126 0.6725896748675468 0.4485419619019287 1.0 0.161 True 1 1 9.0939e-01
5 112164584 217935 1 1 1 1 5.03506 G A APC stop_gained ENST00000257430 53.73204437156034 1.212787138750175 0.8087931511758002 1.0 0.161 True 1 1 9.0939e-01
5 112164585 92340 1 1 1 1 5.03506 G A APC stop_gained ENST00000257430 53.73204437156034 1.212787138750175 0.8087931511758002 1.0 0.161 True 1 1 9.0939e-01
5 112164586 807 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 53.73204437156034 1.212787138750175 0.8087931511758002 1.0 0.161 True 1 1 9.0939e-01
5 112164616 808 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 53.73204437156034 1.212787138750175 0.8087931511758002 1.0 0.161 True 1 1 9.0939e-01
5 112170682 419994 1 1 1 1 5.03506 G A APC stop_gained ENST00000257430 44.458744187869144 1.003479279202159 0.6692082579321611 1.0 0.161 True 1 1 9.0939e-01
5 112170683 433627 1 1 1 1 5.03506 G A APC stop_gained ENST00000257430 44.458744187869144 1.003479279202159 0.6692082579321611 1.0 0.161 True 1 1 9.0939e-01
5 112170770 233973 1 1 1 1 5.03506 C A APC stop_gained ENST00000257430 44.458744187869144 1.003479279202159 0.6692082579321611 1.0 0.161 True 1 1 9.0939e-01
5 112170777 232045 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 44.458744187869144 1.003479279202159 0.6692082579321611 1.0 0.161 True 1 1 9.0939e-01
5 112170790 429049 1 1 1 1 5.03506 T G APC stop_gained ENST00000257430 44.458744187869144 1.003479279202159 0.6692082579321611 1.0 0.161 True 1 1 9.0939e-01
5 112170863 428125 1 1 1 1 5.03506 G A APC splice_donor_variant ENST00000257430 44.458744187869144 1.003479279202159 0.6692082579321611 1.0 0.161 True 1 1 9.0939e-01
5 112173278 181792 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 55.61819708272782 1.2553595324972746 0.8371841683556965 1.0 0.161 True 1 1 9.0939e-01
5 112173290 233010 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 55.61819708272782 1.2553595324972746 0.8371841683556965 1.0 0.161 True 1 1 9.0939e-01
5 112173387 411494 1 1 1 1 5.03506 G A APC stop_gained ENST00000257430 55.61819708272782 1.2553595324972746 0.8371841683556965 1.0 0.161 True 1 1 9.0939e-01
5 112173600 411447 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112173656 92341 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112173704 127281 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112173912 469762 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112173917 216014 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112173968 419997 1 1 1 1 5.03506 G T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174086 411362 1 1 1 1 5.03506 C A APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174096 810 1 1 1 1 5.03506 C A APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174096 186058 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174379 127284 1 1 1 1 5.03506 A T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174437 230610 1 1 1 1 5.03506 G A APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174438 217964 1 1 1 1 5.03506 G A APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174490 803 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174494 579696 1 1 1 1 5.03506 C A APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174502 232078 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174577 156475 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174631 236589 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174682 236590 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0509e-01
5 112174814 537459 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112174862 428096 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112174868 492664 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112175021 630045 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112175077 537417 1 1 1 1 5.03506 T G APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112175101 217972 1 1 1 1 5.03506 T A APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112175106 217973 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112175158 545962 1 1 1 1 5.03506 T A APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112175273 92346 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112175303 801 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112175507 142519 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112175639 194585 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112176087 469977 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112176329 230520 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112176863 486765 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112177787 438883 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112178000 187612 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.71786 0.196 9.0486e-01
5 112178729 537540 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.90104 0.254 9.0486e-01
5 112178969 654491 1 1 1 1 5.03506 C T APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.90104 0.254 9.0486e-01
5 112179000 628123 1 1 1 1 5.03506 C G APC stop_gained ENST00000257430 NA NA NA 1.0 0.161 True 0.90104 0.254 9.0486e-01
5 125880712 374140 0 1 1 1 10.8499 C A ALDH7A1 splice_acceptor_variant ENST00000409134 31.237340125745096 0.8393097535962805 0.5034312666719316 2.1224e-20 1 True 1 1 3.6282e-01
5 125904026 465333 0 1 1 1 10.8499 G A ALDH7A1 stop_gained ENST00000409134 24.112286421375 0.6478681313293946 0.38860155335263796 1.7706e-08 1 True 1 1 3.6287e-01
5 125919689 17995 0 1 1 1 10.8499 G A ALDH7A1 stop_gained ENST00000409134 40.697882934675 1.093503158728934 0.6559004919814925 7.6459e-06 1 True 0.92424 1 3.6282e-01
5 125928355 265384 0 1 1 1 10.8499 C T ALDH7A1 splice_donor_variant ENST00000409134 52.12153022596922 1.4004428198726424 0.8400077560033022 1.7706e-08 1 True 1 1 3.6287e-01
5 131705676 25347 1 1 1 1 5.64901 C G SLC22A5 stop_gained ENST00000245407 23.691351444096938 0.7302604995742327 0.5052348634212894 5.2651e-16 1 True 1 1 6.8214e-01
5 131719994 25381 1 1 1 1 5.64901 G A SLC22A5 splice_donor_variant ENST00000245407 22.960620381841064 0.7077364982804886 0.48965150553190534 3.4439e-13 1 True 1 1 6.8231e-01
5 131721127 6426 1 1 1 1 5.64901 C T SLC22A5 stop_gained ENST00000245407 39.24090213264327 1.2095587228422018 0.8368400543251461 3.4439e-13 1 True 1 1 6.8231e-01
5 131722736 6416 1 1 1 1 5.64901 C T SLC22A5 stop_gained ENST00000245407 31.38036143405556 0.9672659861437843 0.6692084518967422 3.4439e-13 1 True 1 1 6.8231e-01
5 131726380 203929 1 1 1 1 5.64901 A C SLC22A5 splice_acceptor_variant ENST00000245407 31.787123246406548 0.9798039827623423 0.6778829358827266 5.2651e-16 1 True 1 1 6.8214e-01
5 131726581 373229 1 1 1 1 5.64901 C T SLC22A5 stop_gained ENST00000245407 31.787123246406548 0.9798039827623423 0.6778829358827266 5.2651e-16 1 True 1 1 6.8214e-01
5 131915055 187117 0 0 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 NA NA NA 0.019217 0.873 True 0.85065 0.845 5.8251e-02
5 131915114 639622 1 1 1 1 7.26376 T A RAD50 stop_gained ENST00000265335 38.09455364109775 1.009733514686022 0.602775829664244 0.019217 0.845 True 1 1 8.6433e-01
5 131915678 457485 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 29.916818394167485 0.7929746196783547 0.47337829964764416 1.1246e-19 0.845 True 1 1 8.5615e-01
5 131923329 408402 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 42.61016343349218 1.129424182007716 0.6742269999468657 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131923634 141896 1 1 1 1 7.26376 G T RAD50 stop_gained ENST00000265335 31.88938905137575 0.84525954002247 0.5045905806910767 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131924441 126999 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 32.97136864840104 0.8739384706542827 0.5217109059591248 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131924528 457365 1 1 1 1 7.26376 A T RAD50 stop_gained ENST00000265335 32.97136864840104 0.8739384706542827 0.5217109059591248 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131924564 184469 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 32.97136864840104 0.8739384706542827 0.5217109059591248 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131925443 231396 1 1 1 1 7.26376 G T RAD50 stop_gained ENST00000265335 38.365478307401986 1.016914638741178 0.6070627112496438 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131925470 127997 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 38.365478307401986 1.016914638741178 0.6070627112496438 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131930642 220719 1 1 1 1 7.26376 C G RAD50 stop_gained ENST00000265335 34.47008748456571 0.9136634836370857 0.54542535864477 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131930725 141646 1 1 1 1 7.26376 C A RAD50 stop_gained ENST00000265335 34.47008748456571 0.9136634836370857 0.54542535864477 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131930733 240219 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 34.47008748456571 0.9136634836370857 0.54542535864477 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131931309 484641 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 45.182053649751055 1.1975946551917884 0.7149224041643942 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131931321 486238 1 1 1 1 7.26376 G T RAD50 stop_gained ENST00000265335 45.182053649751055 1.1975946551917884 0.7149224041643942 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131931411 457398 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 45.182053649751055 1.1975946551917884 0.7149224041643942 1.1246e-19 0.845 True 0.97946 0.976 8.5615e-01
5 131939047 480435 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 32.70901196001057 0.8669844492588435 0.517559596771926 3.8183e-23 0.845 True 1 1 8.5615e-01
5 131940542 408414 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 44.432393471284975 1.1777241767513724 0.7030604188449591 3.8183e-23 0.845 True 1 1 8.5615e-01
5 131940578 484658 1 1 1 1 7.26376 G T RAD50 stop_gained ENST00000265335 44.432393471284975 1.1777241767513724 0.7030604188449591 3.8183e-23 0.845 True 1 1 8.5615e-01
5 131944409 37376 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 63.19854208871818 1.6751393552864589 1.0 3.8183e-23 0.845 True 1 1 8.5615e-01
5 131945032 233377 1 1 1 1 7.26376 A T RAD50 stop_gained ENST00000265335 24.466972304584075 0.6485211028219132 0.38714456846547685 3.8183e-23 0.845 True 1 1 8.5615e-01
5 131951708 480391 1 1 1 1 7.26376 G A RAD50 stop_gained ENST00000265335 55.11638722649606 1.4609139121390142 0.8721148527306788 3.8183e-23 0.845 True 0.66584 1 8.5615e-01
5 131953826 231200 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 38.41482393217856 1.0182225929335136 0.6078435144635423 3.8183e-23 0.845 True 0.66584 1 8.5615e-01
5 131953969 230674 1 1 1 1 7.26376 T A RAD50 stop_gained ENST00000265335 51.297257373347826 1.3596841288478574 0.8116841888747478 4.0157e-06 0.845 True 1 1 8.7007e-01
5 131972871 233174 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 49.45466982045884 1.3108445381960294 0.7825286499652844 4.0157e-06 0.845 True 1 1 8.7007e-01
5 131973850 216097 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 27.64471472209859 0.7327502829360532 0.437426462833445 4.0157e-06 0.845 True 1 1 8.7007e-01
5 131973889 486234 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 27.64471472209859 0.7327502829360532 0.437426462833445 4.0157e-06 0.845 True 1 1 8.7007e-01
5 131973895 184879 1 1 1 1 7.26376 C T RAD50 stop_gained ENST00000265335 27.64471472209859 0.7327502829360532 0.437426462833445 4.0157e-06 0.845 True 1 1 8.7007e-01
5 140903734 228577 1 1 1 1 12.2561 G A DIAPH1 stop_gained ENST00000253811 67.45351962703488 1.4410086041383647 0.8342128745402934 0.94153 0.317 True 1 1 6.5368e-01
5 147444937 429608 1 1 1 1 28.3937 T A SPINK5 splice_donor_variant ENST00000256084 20.80049447526087 0.5871349818943475 0.3330493779303869 0.0017442 0.805 True 1 1 9.9426e-01
5 147470777 351517 1 1 1 1 28.3937 C T SPINK5 stop_gained NM_001127698.1 40.19096752160318 1.1344693279373035 0.6435220445076677 3.3957e-16 0.805 True 1 1 9.9046e-01
5 147478875 646119 1 1 1 1 28.3937 T G SPINK5 stop_gained NM_001127698.1 18.280597895493827 0.5160059308760258 0.2927017799759975 3.3957e-16 0.805 True 1 1 9.9046e-01
5 147503414 623372 1 1 1 1 28.3937 C T SPINK5 stop_gained ENST00000256084 33.962377588559065 0.9586550922750378 0.543792299858999 3.3957e-16 0.805 True 1 1 9.9046e-01
5 148389835 2483 0 0 1 1 0.631205 G A SH3TC2 stop_gained&splice_region_variant&NMD_transcript_variant ENST00000504690 38.12198289817213 1.154020952973102 0.5236943308185282 3.481e-11 0.798 True 1 1 3.1847e-03
5 148392197 220408 0 0 1 1 0.631205 G A SH3TC2 stop_gained&NMD_transcript_variant ENST00000504690 28.89193709384667 0.874610873923836 0.3968981283798468 3.481e-11 0.798 True 1 1 3.1847e-03
5 148407917 637510 0 0 1 1 0.631205 G A SH3TC2 stop_gained ENST00000394358 37.67464047958716 1.1404790937896578 0.5175490395525058 3.481e-11 0.798 True 1 1 5.5922e-03
5 149264112 437983 1 1 1 1 0.182064 G A PDE6A stop_gained ENST00000255266 39.942584090880004 1.2007812092284265 0.7562391197607198 6.5775e-25 1 True 1 1 8.8107e-01
5 149264342 194473 1 1 1 1 0.182064 C T PDE6A splice_donor_variant ENST00000255266 35.41175218824138 1.0645722499261823 0.6704561788763927 6.5775e-25 1 False 1 1 8.8107e-01
5 149310680 437984 1 1 1 1 0.182064 G A PDE6A stop_gained ENST00000255266 23.45609724744286 0.7051531957091127 0.44409791552465433 6.5775e-25 1 True 1 1 8.8107e-01
5 149357747 4092 1 1 1 1 6.00668 C T SLC26A2 stop_gained ENST00000503336 37.3985830791698 1.0592600944641863 1.0 0.061508 1 True 1 1 1.0000e+00
5 149754375 280270 1 1 1 1 4.57684 G A TCOF1 splice_donor_variant ENST00000323668 34.962060544136115 0.9509810243567702 0.4475663545919045 0.99462 0.285 True 0.70302 0.251 8.0591e-01
5 151208570 16073 0 0 1 1 0.027629 G T GLRA1 stop_gained ENST00000274576 40.06967284499301 0.8586844131503103 0.4245929175302095 0.020238 0.671 True 1 1 1.1049e-01
5 156022052 8172 1 1 1 1 3.4074800000000005 C T SGCD stop_gained ENST00000337851 39.87082595517647 0.7903474412767023 0.42269494753206477 0.036437 0.707 False 1 1 1.0000e+00
5 161524722 205540 1 1 1 1 2.5832 C T GABRG2 stop_gained ENST00000356592 70.45562318753181 1.1358016261128403 0.7799266844964384 0.9892 0.263 True 1 1 9.5802e-01
5 172659836 523473 1 1 1 1 3.9950300000000003 G T NKX2-5 stop_gained ENST00000329198 42.955745773927774 1.0249608241414474 0.8873181393636986 0.94531 0.326 True 0.7576 1 9.6402e-01
5 176637210 159271 1 1 1 1 5.9699 C T NSD1 stop_gained ENST00000347982 37.41923598341642 0.699734646610528 0.38004840723068706 1.0 0.074 True 0.42468 0.306 8.5381e-01
5 176637231 159273 1 1 1 1 5.9699 C T NSD1 stop_gained ENST00000347982 37.41923598341642 0.699734646610528 0.38004840723068706 1.0 0.074 True 0.42468 0.306 8.5381e-01
5 176637762 378304 1 1 1 1 5.9699 C T NSD1 stop_gained ENST00000347982 37.41923598341642 0.699734646610528 0.38004840723068706 1.0 0.074 True 0.42468 0.306 8.5381e-01
5 176638467 159298 1 1 1 1 5.9699 C T NSD1 stop_gained ENST00000347982 37.41923598341642 0.699734646610528 0.38004840723068706 1.0 0.074 True 0.42468 0.306 8.5381e-01
5 176638491 159300 1 1 1 1 5.9699 C T NSD1 stop_gained ENST00000347982 37.41923598341642 0.699734646610528 0.38004840723068706 1.0 0.074 True 0.42468 0.306 8.5381e-01
5 176638614 159303 1 1 1 1 5.9699 C T NSD1 stop_gained ENST00000347982 37.41923598341642 0.699734646610528 0.38004840723068706 1.0 0.074 True 0.42468 0.306 8.5381e-01