mutation | status | PPH2-var | PPH2-div | PROVEAN | SIFT | MT |
chr18:12337519|TC ENST00000269143 | disease_causing | TP | TP | TP | TP | TP |
chr19:45855484|CG ENST00000391945 | disease_causing | TP | TP | TP | TP | TP |
chr5:125912825|GA ENST00000409134 | disease_causing | TP | TP | TP | TP | TP |
chr2:241813402|CA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr1:229568856|CA ENST00000366684 | disease_causing | FN | TP | FN | TP | TP |
chr2:241810125|GT ENST00000307503 | disease_causing | FN | FN | FN | FN | TP |
chr1:201035411|CA ENST00000367338 | disease_causing | TP | TP | TP | TP | TP |
chr11:17417206|GA ENST00000389817 | disease_causing | TP | TP | TP | TP | TP |
chr1:21900176|AC ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr6:121768025|TC ENST00000282561 | disease_causing | TP | TP | TP | TP | TP |
chr16:75513423|AC ENST00000332272 | disease_causing | TP | TP | TP | TP | TP |
chr14:21161914|AT ENST00000336811 | disease_causing | TP | TP | TP | TP | FN |
chr1:196645148|GT ENST00000367429 | disease_causing | TP | TP | TP | TP | TP |
chr12:50344783|AC ENST00000199280 | disease_causing | TP | TP | TP | TP | TP |
chr7:30651723|CT ENST00000389266 | disease_causing | TP | TP | TP | TP | TP |
chr3:15686570|TG ENST00000449107 | disease_causing | TP | TP | TP | TP | TP |
chr7:33217182|GA ENST00000242067 | disease_causing | TP | TP | TP | TP | TP |
chr14:21162132|GA ENST00000336811 | disease_causing | TP | TP | FN | TP | FN |
chr16:88876242|AG ENST00000378364 | disease_causing | TP | TP | TP | TP | TP |
chr3:183860329|AG ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr7:138424286|GA ENST00000310018 | disease_causing | TP | TP | TP | TP | TP |
chr3:49455325|CT ENST00000458307 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647843|TG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr2:175618252|AC ENST00000348749 | disease_causing | TP | TP | TP | TP | TP |
chr3:183861965|GA ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr9:136303015|AG ENST00000371929 | disease_causing | TP | TP | TP | TP | TP |
chr19:39200947|TC ENST00000252699 | disease_causing | TP | TP | TP | TP | TP |
chr18:55342225|CT ENST00000283684 | disease_causing | TP | TP | TP | TP | TP |
chr2:216209551|AG ENST00000236959 | disease_causing | TP | TP | TP | TP | TP |
chr11:116706733|CG ENST00000375320 | disease_causing | TP | TP | FN | TP | FN |
chr12:50344677|CG ENST00000199280 | disease_causing | FN | FN | FN | FN | FN |
chr1:21890587|GA ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr3:58064444|GT ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr14:55310826|AG ENST00000491895 | disease_causing | FN | FN | FN | FN | TP |
chr5:34005932|AG ENST00000335606 | disease_causing | TP | TP | TP | TP | TP |
chr16:31202729|CG ENST00000254108 | disease_causing | TP | TP | TP | TP | TP |
chr13:52532469|CA ENST00000242839 | disease_causing | TP | TP | TP | TP | TP |
chr3:183854407|TC ENST00000273783 | disease_causing | FN | TP | TP | TP | TP |
chr3:121973074|TC ENST00000490131 | disease_causing | FN | FN | FN | TP | FN |
chr2:241808669|AG ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr3:122002981|TA ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr2:46607414|AG ENST00000263734 | disease_causing | TP | TP | TP | TP | TP |
chr17:14063243|CT ENST00000261643 | disease_causing | TP | TP | FN | FN | TP |
chr15:43500967|CT ENST00000300215 | disease_causing | TP | TP | TP | TP | TP |
chr16:2328349|AG ENST00000301732 | disease_causing | TP | TP | TP | TP | TP |
chr3:121994806|GA ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr2:219526569|GA ENST00000359273 | disease_causing | TP | TP | TP | TP | TP |
chr9:131303403|TC ENST00000309971 | disease_causing | FN | TP | TP | TP | TP |
chr21:27264102|CT ENST00000346798 | disease_causing | TP | TP | FN | TP | TP |
chr19:42489242|AG ENST00000302102 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647950|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647244|GA ENST00000378842 | disease_causing | FN | TP | FN | TP | TP |
chr9:130582213|CA ENST00000373203 | disease_causing | TP | TP | TP | TP | TP |
chr2:71894506|AG ENST00000413539 | disease_causing | FN | FN | TP | TP | TP |
chr9:34649040|TG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr19:45856060|GA ENST00000391945 | disease_causing | TP | TP | TP | TP | TP |
chr11:103033875|AG ENST00000375735 | disease_causing | TP | TP | TP | TP | TP |
chr19:41928548|GA ENST00000269980 | disease_causing | TP | TP | TP | TP | TP |
chr2:241808767|GA ENST00000307503 | disease_causing | TP | TP | FN | TP | TP |
chr19:39200939|CT ENST00000252699 | disease_causing | TP | TP | TP | TP | TP |
chr9:14784492|CT ENST00000380880 | disease_causing | TP | TP | TP | TP | TP |
chr6:116446604|CT ENST00000327673 | disease_causing | TP | TP | FN | TP | TP |
chr11:17474698|CT ENST00000389817 | disease_causing | FN | FN | FN | FN | TP |
chr20:32880181|TC ENST00000217426 | disease_causing | TP | TP | TP | TP | TP |
chr2:241808356|TG ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr4:1806089|GT ENST00000481110 | disease_causing | FN | FN | FN | FN | TP |
chr16:16244463|GA ENST00000205557 | disease_causing | TP | TP | TP | TP | TP |
chr1:94480221|GC ENST00000370225 | disease_causing | TP | TP | TP | TP | TP |
chr5:14769254|AG ENST00000284268 | disease_causing | TP | TP | FN | FN | TP |
chr9:34648443|TC ENST00000378842 | disease_causing | FN | FN | TP | TP | TP |
chr16:88714511|CT ENST00000261623 | disease_causing | TP | TP | TP | TP | TP |
chr17:7976996|GT ENST00000319144 | disease_causing | TP | TP | TP | TP | TP |
chr17:48274012|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr22:40760969|GA ENST00000216194 | disease_causing | FN | FN | TP | TP | TP |
chr2:233407702|CT ENST00000389494 | disease_causing | TP | TP | TP | TP | TP |
chr2:241813412|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr9:34649029|GT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr14:54418669|GC ENST00000559087 | disease_causing | TP | TP | FN | TP | TP |
chr1:155209730|CT ENST00000368373 | disease_causing | TP | TP | TP | TP | TP |
chr9:34650438|AG ENST00000378842 | disease_causing | FN | FN | FN | FN | FN |
chr16:56545126|CA ENST00000568104 | disease_causing | TP | TP | TP | TP | TP |
chr18:55362480|AG ENST00000283684 | disease_causing | TP | TP | TP | TP | TP |
chr8:75275246|CG ENST00000220822 | disease_causing | FN | FN | FN | FN | TP |
chr2:219526485|GC ENST00000359273 | disease_causing | TP | TP | TP | TP | TP |
chr1:76205779|GA ENST00000370841 | disease_causing | TP | TP | TP | TP | TP |
chr21:27264132|GC ENST00000346798 | disease_causing | TP | TP | TP | TP | TP |
chr9:136321260|GA ENST00000371929 | disease_causing | TP | TP | TP | TP | TP |
chr1:169487691|GA ENST00000367797 | disease_causing | TP | TP | TP | TP | TP |
chr3:165547818|AG ENST00000264381 | disease_causing | TP | TP | TP | TP | TP |
chr1:21894694|GT ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr7:138394378|CT ENST00000310018 | disease_causing | TP | TP | TP | TP | TP |
chr9:133370368|GT ENST00000352480 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647098|TA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr13:52532509|CT ENST00000242839 | disease_causing | TP | TP | TP | TP | TP |
chr16:75513128|AC ENST00000332272 | disease_causing | TP | TP | TP | TP | TP |
chr15:40509781|GC ENST00000287598 | disease_causing | TP | TP | FN | FN | FN |
chr16:30080705|GA ENST00000338110 | disease_causing | FN | TP | TP | TP | TP |
chr16:89246680|CT ENST00000289746 | disease_causing | TP | TP | FN | TP | FN |
chr7:94047820|GA ENST00000297268 | disease_causing | TP | TP | TP | TP | TP |
chr17:48273698|GA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr2:175618323|CA ENST00000348749 | disease_causing | TP | TP | TP | TP | TP |
chr6:135776888|AT ENST00000367800 | disease_causing | TP | TP | TP | TP | TP |
chr2:241815358|TA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr3:98299553|GA ENST00000264193 | disease_causing | TP | TP | TP | TP | TP |
chr11:61719418|GA ENST00000378043 | disease_causing | TP | TP | FN | FN | TP |
chr15:40504844|CT ENST00000287598 | disease_causing | TP | TP | FN | TP | TP |
chr2:169847329|TC ENST00000263817 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647899|GC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr5:177034506|TC ENST0000029410 | disease_causing | TP | TP | TP | TP | TP |
chr13:20763590|CG ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr12:110778507|CT ENST00000308664 | disease_causing | TP | TP | TP | TP | TP |
chr17:48264232|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr12:50347954|CT ENST00000199280 | disease_causing | TP | TP | TP | TP | TP |
chr3:183859713|GT ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr7:44192019|CT ENST00000403799 | disease_causing | TP | TP | TP | TP | TP |
chr17:73949644|TC ENST00000293217 | disease_causing | TP | TP | TP | TP | TP |
chr11:62469971|TC ENST00000405837 | disease_causing | TP | TP | TP | FN | TP |
chr9:34647521|TG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr22:43019809|TC ENST00000352397 | disease_causing | TP | TP | TP | TP | TP |
chr1:35227108|AC ENST00000339480 | disease_causing | TP | TP | TP | TP | TP |
chr18:55355593|GA ENST00000283684 | disease_causing | TP | TP | TP | TP | TP |
chr2:241808403|GA ENST00000307503 | disease_causing | TP | TP | TP | FN | TP |
chr2:203379626|GA ENST00000374580 | disease_causing | TP | TP | FN | FN | TP |
chr1:21902229|GA ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr14:55310855|CT ENST00000491895 | disease_causing | TP | TP | TP | TP | TP |
chr19:853019|TC ENST00000590230 | disease_causing | TP | TP | TP | TP | TP |
chr1:160106455|TC ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr13:52511706|TC ENST00000242839 | disease_causing | TP | TP | TP | TP | TP |
chr6:53371799|TA ENST00000229416 | disease_causing | TP | TP | TP | TP | TP |
chr9:71679907|CG ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr13:52532505|GC ENST00000242839 | disease_causing | TP | TP | TP | TP | TP |
chr11:44289135|CG ENST00000329255 | disease_causing | TP | TP | TP | TP | TP |
chr5:34007971|AG ENST00000335606 | disease_causing | TP | TP | TP | TP | TP |
chr7:44185217|CT ENST00000403799 | disease_causing | TP | TP | TP | TP | TP |
chr17:48266881|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr3:8787520|CG ENST00000343849 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648140|GA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr2:87017523|CT ENST00000352580 | disease_causing | TP | TP | TP | TP | TP |
chr19:852990|CT ENST00000590230 | disease_causing | TP | TP | FN | FN | FN |
chr19:42474620|AG ENST00000302102 | disease_causing | FN | FN | TP | TP | TP |
chr13:20717240|TC ENST00000241125 | disease_causing | TP | TP | TP | TP | TP |
chr17:48273017|CA ENST00000225964 | disease_causing | FN | FN | TP | TP | TP |
chr3:183857907|CG ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr17:19568310|AG ENST00000176643 | disease_causing | TP | TP | TP | TP | TP |
chr1:21890681|AC ENST00000374840 | disease_causing | FN | FN | TP | TP | TP |
chr2:127826568|CT ENST00000376113 | disease_causing | TP | TP | TP | TP | TP |
chr2:175614850|AG ENST00000348749 | disease_causing | TP | TP | TP | TP | TP |
chr2:202141631|CT ENST00000432109 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648424|GA ENST00000378842 | disease_causing | FN | FN | TP | TP | TP |
chr2:158630626|CT ENST00000263640 | disease_causing | TP | TP | TP | TP | TP |
chr14:74531952|CT ENST00000553458 | disease_causing | TP | TP | TP | TP | TP |
chr9:34649550|AG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr11:134131680|CT ENST00000281182 | disease_causing | TP | TP | TP | TP | TP |
chr4:74272477|TC ENST00000295897 | disease_causing | TP | TP | TP | TP | TP |
chr6:145956587|CT ENST00000367519 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648360|TG ENST00000378842 | disease_causing | FN | FN | FN | TP | FN |
chr17:3379665|GA ENST00000456349 | disease_causing | TP | TP | TP | TP | TP |
chr1:160097494|GA ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr11:61719400|TC ENST00000378043 | disease_causing | TP | TP | TP | TP | FN |
chr11:88027665|CT ENST00000227266 | disease_causing | TP | TP | TP | TP | TP |
chr17:73949550|TC ENST00000293217 | disease_causing | TP | TP | TP | TP | TP |
chr12:121174846|GA ENST00000242592 | disease_causing | TP | TP | TP | TP | TP |
chr7:82582846|CT ENST00000423517 | polymorphism | TN | TN | TN | TN | TN |
chr1:76205773|AG ENST00000370841 | disease_causing | TP | TP | TP | TP | TP |
chr10:49388901|CT ENST00000407470 | polymorphism | TN | TN | TN | TN | TN |
chr12:9013755|CT ENST00000299698 | polymorphism | FP | FP | TN | TN | TN |
chr8:8176554|CT ENST00000520004 | polymorphism | TN | TN | TN | TN | TN |
chr2:219526571|CT ENST00000359273 | disease_causing | TP | TP | TP | TP | TP |
chr2:241808665|GC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr19:55451232|CT ENST00000328092 | polymorphism | TN | TN | TN | TN | TN |
chr11:116707816|CA ENST00000375320 | disease_causing | FN | TP | TP | TP | FN |
chr1:43886494|CT ENST00000562955 | polymorphism | TN | TN | TN | TN | TN |
chr22:17264565|GT ENST00000331428 | polymorphism | TN | FP | TN | TN | TN |
chr19:45860553|AG ENST00000391945 | disease_causing | FN | FN | TP | TP | TP |
chr2:170350275|AG ENST00000295240 | disease_causing | TP | TP | TP | TP | TP |
chr9:73150918|CT ENST00000360823 | polymorphism | TN | TN | TN | TN | FP |
chr19:844020|GA ENST00000234347 | polymorphism | TN | TN | TN | TN | TN |
chr6:132181528|GT ENST00000360971 | disease_causing | TP | TP | TP | TP | TP |
chr1:16096934|CT ENST00000375766 | polymorphism | FP | FP | TN | TN | FP |
chr7:44189397|TC ENST00000403799 | disease_causing | TP | TP | FN | TP | TP |
chr1:228346316|TC ENST00000366714 | disease_causing | TP | TP | TP | TP | TP |
chr18:3188976|AG ENST00000356443 | polymorphism | FP | FP | TN | TN | TN |
chr19:54754989|TG ENST00000450632 | polymorphism | TN | TN | TN | FP | TN |
chr1:248569369|AG ENST00000366474 | polymorphism | TN | TN | TN | TN | TN |
chr6:31239108|TA ENST00000396254 | polymorphism | TN | TN | TN | TN | TN |
chr9:130630625|TC ENST00000373176 | disease_causing | TP | TP | TP | TP | TP |
chr2:241827798|TC ENST00000388934 | polymorphism | TN | TN | TN | TN | TN |
chr1:157508882|CT ENST00000368190 | polymorphism | TN | TN | TN | TN | TN |
chr3:194842785|CG ENST00000356740 | polymorphism | TN | TN | TN | FP | TN |
chr11:88027331|TC ENST00000227266 | disease_causing | TP | TP | TP | TP | TP |
chr11:116706789|AT ENST00000375320 | disease_causing | TP | TP | TP | TP | TP |
chr1:228509427|AG ENST00000284548 | polymorphism | TN | TN | TN | TN | TN |
chr3:56771251|AC ENST00000296315 | polymorphism | TN | TN | FP | FP | FP |
chr1:155207932|AT ENST00000368373 | disease_causing | FN | FN | TP | TP | TP |
chr6:6196092|CA ENST00000264870 | disease_causing | TP | TP | TP | TP | TP |
chr16:67316234|CT ENST00000427155 | polymorphism | TN | TN | TN | TN | TN |
chr7:149421773|AG ENST00000255992 | polymorphism | TN | TN | TN | TN | TN |
chr2:175612912|GC ENST00000348749 | disease_causing | TP | TP | TP | TP | TP |
chr9:125289521|GA ENST00000304880 | polymorphism | TN | TN | TN | TN | TN |
chr13:75884216|CT ENST00000377625 | polymorphism | TN | TN | TN | TN | TN |
chr17:61901197|TA ENST00000582115 | polymorphism | TN | FP | FP | TN | TN |
chr9:116151368|CT ENST00000409155 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647692|CG ENST00000378842 | disease_causing | FN | FN | TP | TP | TP |
chr17:80863857|TC ENST00000539345 | polymorphism | TN | TN | TN | TN | TN |
chr8:27321124|AT ENST00000520933 | disease_causing | TP | TP | TP | TP | TP |
chr10:85981801|TG ENST00000538192 | polymorphism | TN | TN | TN | TN | TN |
chr16:88876958|TA ENST00000378364 | disease_causing | TP | FN | TP | TP | TP |
chr2:241808747|GT ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr19:10904505|GA ENST00000585892 | disease_causing | FN | FN | TP | TP | TP |
chr5:141336264|GT ENST00000231484 | polymorphism | TN | TN | TN | TN | TN |
chr8:75275286|CT ENST00000220822 | disease_causing | TP | TP | FN | TP | TP |
chr17:48268823|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr5:77425043|AC ENST00000255194 | disease_causing | TP | TP | TP | TP | TP |
chr3:178968634|CT ENST00000392685 | polymorphism | FP | FP | TN | FP | FP |
chr18:57105351|CG ENST00000439986 | disease_causing | TP | TP | TP | TP | TP |
chr20:3063802|CA ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr17:3402354|CA ENST00000456349 | disease_causing | TP | TP | FN | TP | TP |
chr15:48776107|CG ENST00000316623 | disease_causing | TP | TP | TP | TP | TP |
chr2:178364389|TC ENST00000264167 | disease_causing | TP | TP | TP | TP | TP |
chr1:62516683|GC ENST00000316485 | polymorphism | TN | TN | TN | TN | TN |
chr11:6554941|CA ENST00000254579 | polymorphism | FP | FP | TN | TN | TN |
chr13:25876011|GA ENST00000463407 | polymorphism | TN | TN | TN | TN | TN |
chr16:2260567|CT ENST00000566018 | polymorphism | TN | TN | TN | TN | TN |
chr15:84582124|GT ENST00000567476 | polymorphism | TN | TN | TN | TN | TN |
chr9:102591042|AG ENST00000330847 | polymorphism | TN | TN | TN | TN | TN |
chr6:30888161|TC ENST00000416670 | polymorphism | TN | TN | TN | TN | TN |
chr14:39818145|GA ENST00000341749 | polymorphism | TN | TN | TN | TN | TN |
chr17:39503163|GA ENST000007735 | polymorphism | TN | TN | TN | FP | TN |
chr2:241808389|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr16:77325325|GT ENST00000282849 | polymorphism | TN | TN | TN | FP | TN |
chr6:121769120|GA ENST00000282561 | disease_causing | TP | TP | FN | TP | TP |
chr7:44185216|GA ENST00000403799 | disease_causing | TP | TP | TP | TP | TP |
chr2:234602191|AG ENST00000305139 | polymorphism | TN | TN | TN | TN | TN |
chr17:260299|GA ENST00000571106 | polymorphism | FP | FP | TN | TN | TN |
chr4:96075772|GA ENST00000515059 | disease_causing | TP | TP | TP | TP | TP |
chr6:121768045|TC ENST00000282561 | disease_causing | TP | TP | TP | TP | TP |
chr11:134128483|TC ENST00000281182 | disease_causing | TP | TP | TP | FN | TP |
chr10:129911856|CG ENST00000368654 | polymorphism | FP | FP | TN | TN | TN |
chr9:34648373|GA ENST00000378842 | disease_causing | FN | FN | TP | TP | TP |
chr10:72535007|CT ENST00000299290 | polymorphism | TN | TN | TN | TN | TN |
chr20:34025192|TC ENST00000374369 | disease_causing | TP | TP | TP | TP | TP |
chr4:184203886|GC ENST00000508747 | polymorphism | FP | FP | TN | FP | TN |
chr14:51094851|AG ENST00000441560 | disease_causing | FN | TP | TP | TP | TP |
chr13:20763382|AC ENST00000382848 | disease_causing | FN | FN | FN | FN | FN |
chr11:108204652|TC ENST00000452508 | disease_causing | TP | TP | TP | TP | TP |
chr20:43255238|CA ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr10:73767700|GA ENST00000373115 | disease_causing | TP | TP | TP | TP | TP |
chr6:153323709|TC ENST00000367230 | polymorphism | TN | TN | TN | TN | TN |
chr3:58083638|GA ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr9:112900199|TC ENST00000259318 | polymorphism | TN | TN | TN | TN | TN |
chr13:96239805|GA ENST00000376829 | polymorphism | TN | TN | TN | TN | TN |
chr19:45855493|GA ENST00000391945 | disease_causing | TP | TP | TP | TP | TP |
chr21:40800371|CT ENST00000380671 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648350|TC ENST00000378842 | disease_causing | FN | FN | TP | TP | TP |
chr3:98300318|TC ENST00000264193 | disease_causing | TP | TP | TP | TP | TP |
chr5:176516631|GA ENST00000292408 | polymorphism | TN | TN | TN | TN | TN |
chr2:241812439|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr6:130374102|CA ENST00000529410 | polymorphism | TN | TN | TN | TN | TN |
chr12:105583877|GA ENST00000551662 | polymorphism | TN | TN | TN | TN | TN |
chr4:155490855|TG ENST00000302068 | disease_causing | TP | TP | TP | TP | TP |
chr19:45412289|CT ENST00000252486 | disease_causing | TP | TP | TP | TP | FN |
chr2:17998025|AT ENST00000281047 | polymorphism | TN | TN | TN | TN | TN |
chr16:56548399|TG ENST00000568104 | disease_causing | TP | TP | TP | TP | TP |
chr17:67125840|CT ENST00000284425 | polymorphism | TN | TN | TN | TN | TN |
chr10:128974220|GA ENST00000424811 | polymorphism | TN | TN | TN | TN | TN |
chr7:102743893|CT ENST00000341533 | polymorphism | TN | TN | TN | TN | TN |
chr9:43092086|AC ENST00000254835 | polymorphism | TN | TN | TN | TN | TN |
chr3:58124218|GA ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr8:97156888|TC ENST00000287020 | disease_causing | TP | TP | FN | FN | TP |
chr17:39967442|TC ENST00000355468 | polymorphism | TN | TN | TN | TN | TN |
chr1:35227421|TA ENST00000339480 | disease_causing | TP | TP | TP | TP | TP |
chr15:42652260|CT ENST00000357568 | disease_causing | TP | TP | TP | TP | TP |
chr17:4805227|CA ENST00000293780 | disease_causing | TP | TP | TP | TP | TP |
chr9:104184181|GC ENST00000374855 | disease_causing | TP | TP | TP | TP | TP |
chr7:89938680|CT ENST00000389297 | polymorphism | FP | FP | FP | FP | FP |
chr5:127674672|CA ENST00000508053 | disease_causing | TP | TP | TP | TP | TP |
chr14:94935901|GC ENST00000337425 | polymorphism | FP | FP | TN | TN | FP |
chr19:44418824|CT ENST00000269973 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648886|GA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr19:10088271|CG ENST00000264828 | polymorphism | TN | TN | TN | TN | TN |
chr3:124802888|CT ENST00000393469 | polymorphism | TN | TN | TN | TN | TN |
chr4:1806153|CA ENST00000481110 | disease_causing | FN | FN | FN | FN | TP |
chr2:44079622|CA ENST00000272286 | disease_causing | TP | TP | TP | TP | TP |
chr3:122002844|GT ENST00000490131 | disease_causing | TP | TP | FN | FN | TP |
chr10:24813454|GA ENST00000307544 | polymorphism | TN | TN | TN | TN | TN |
chr19:10077419|CG ENST00000264828 | polymorphism | TN | TN | TN | TN | TN |
chr17:41931375|AG ENST00000539718 | polymorphism | TN | TN | TN | TN | TN |
chr11:5906205|GA ENST00000316987 | polymorphism | TN | TN | TN | TN | TN |
chr20:62038277|TG ENST00000357249 | polymorphism | TN | TN | TN | TN | TN |
chr1:179562740|GC ENST00000367614 | polymorphism | FP | FP | TN | FP | FP |
chr17:39274518|CT ENST00000391413 | polymorphism | TN | TN | TN | TN | TN |
chr3:58064506|AG ENST00000429972 | disease_causing | TP | TP | TP | TP | TP |
chr19:45855838|GA ENST00000391945 | disease_causing | TP | TP | TP | TP | TP |
chr5:79031372|GC ENST00000446378 | polymorphism | TN | TN | TN | TN | TN |
chr17:48264455|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr14:94756794|TC ENST00000261994 | polymorphism | TN | TN | TN | TN | TN |
chr8:133900252|TG ENST00000220616 | polymorphism | TN | TN | TN | TN | TN |
chr11:118405068|AG ENST00000359862 | polymorphism | TN | TN | TN | TN | TN |
chr20:34021907|GT ENST00000374369 | disease_causing | TP | TP | TP | TP | TP |
chr18:77440128|TG ENST0000075430 | polymorphism | TN | TN | TN | TN | TN |
chr2:219508372|AT ENST00000449707 | polymorphism | FP | FP | TN | TN | TN |
chr11:1018374|TA ENST00000421673 | polymorphism | TN | TN | TN | TN | TN |
chr2:240981631|AG ENST00000408934 | polymorphism | TN | TN | TN | TN | TN |
chr10:100219374|TA ENST00000370552 | polymorphism | TN | TN | TN | TN | FP |
chr1:160097450|TC ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr9:116155804|GC ENST00000409155 | disease_causing | FN | FN | TP | FN | TP |
chr1:208391254|CT ENST00000367033 | polymorphism | TN | TN | TN | TN | TN |
chr5:148407893|CA ENST00000512049 | polymorphism | TN | FP | TN | TN | TN |
chr8:97157413|GT ENST00000287020 | disease_causing | FN | FN | FN | TP | FN |
chr3:58062998|CT ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr6:151670172|AC ENST00000402676 | polymorphism | TN | TN | TN | TN | TN |
chr11:47256859|GT ENST00000256996 | disease_causing | TP | TP | TP | TP | TP |
chr12:53715207|GT ENST00000209873 | disease_causing | FN | TP | FN | FN | TP |
chr2:219525858|AG ENST00000359273 | disease_causing | TP | TP | TP | FN | TP |
chr2:220290421|CT ENST00000373960 | disease_causing | FN | TP | FN | FN | TP |
chr2:220286254|CT ENST00000373960 | disease_causing | TP | TP | TP | TP | TP |
chr4:187538942|TG ENST00000441802 | polymorphism | TN | TN | TN | TN | TN |
chr9:34637690|TG ENST00000477726 | polymorphism | TN | TN | TN | TN | TN |
chr13:36828237|TC ENST00000503173 | polymorphism | TN | TN | TN | TN | TN |
chr19:58420162|TC ENST00000312026 | polymorphism | TN | TN | TN | TN | TN |
chr22:44286950|GA ENST00000216177 | polymorphism | TN | TN | FP | FP | FP |
chr12:53509933|CT ENST00000301466 | polymorphism | TN | TN | TN | TN | TN |
chr6:151674326|AC ENST00000354675 | polymorphism | TN | TN | TN | TN | TN |
chr1:236706862|GC ENST00000352231 | polymorphism | TN | TN | TN | TN | TN |
chr19:43269699|CT ENST00000406636 | polymorphism | TN | TN | TN | TN | TN |
chr6:31324100|GT ENST00000412585 | polymorphism | TN | TN | FP | TN | TN |
chr16:28883241|AG ENST00000322610 | polymorphism | TN | TN | TN | TN | TN |
chr17:66364804|TC ENST00000448504 | polymorphism | TN | TN | TN | TN | TN |
chr17:3379524|AG ENST00000456349 | disease_causing | TP | TP | TP | TP | TP |
chr19:33355055|AG ENST00000587772 | polymorphism | TN | TN | TN | TN | TN |
chr1:1551927|TC ENST00000360522 | polymorphism | TN | TN | TN | TN | TN |
chr9:136643994|TC ENST00000371851 | polymorphism | TN | TN | TN | TN | TN |
chr1:110300441|GA ENST00000361852 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648377|GC ENST00000378842 | disease_causing | FN | TP | TP | TP | TP |
chr3:12875443|GA ENST00000295989 | polymorphism | TN | TN | TN | TN | TN |
chr3:121973221|GT ENST00000490131 | disease_causing | TP | TP | FN | FN | TP |
chr1:621380|CT ENST00000332831 | polymorphism | TN | TN | TN | TN | TN |
chr19:49254048|AT ENST00000310160 | disease_causing | TP | TP | TP | TP | FN |
chr11:116706987|AG ENST00000375320 | disease_causing | TP | TP | TP | TP | TP |
chr1:175087729|TC ENST00000239462 | polymorphism | TN | TN | TN | TN | TN |
chr1:47280859|GA ENST00000371919 | polymorphism | TN | TN | TN | FP | FP |
chr13:20763293|CT ENST00000382848 | disease_causing | TP | TP | FN | TP | TP |
chr1:145561594|CT ENST00000355594 | polymorphism | TN | TN | TN | TN | TN |
chr3:98307675|CG ENST00000264193 | disease_causing | TP | TP | TP | TP | TP |
chr2:241817000|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr17:13980350|GA ENST00000429152 | polymorphism | TN | TN | TN | TN | FP |
chr19:8564288|CT ENST00000423345 | polymorphism | TN | TN | TN | TN | TN |
chr10:128193368|CT ENST00000392694 | polymorphism | TN | TN | TN | TN | TN |
chr1:31347320|GA ENST00000336798 | polymorphism | TN | TN | TN | TN | TN |
chr10:17083159|GA ENST00000377833 | disease_causing | TP | TP | TP | TP | TP |
chr7:87076396|GA ENST00000359206 | disease_causing | TP | TP | TP | TP | TP |
chr18:61160287|TC ENST00000382771 | polymorphism | TN | TN | TN | TN | TN |
chr9:138590928|CT ENST00000425225 | polymorphism | TN | TN | TN | TN | TN |
chr11:86662774|TC ENST00000531380 | disease_causing | FN | TP | FN | TP | TP |
chr2:241808663|CT ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr9:14824927|GA ENST00000380880 | disease_causing | TP | TP | TP | TP | TP |
chr7:6621277|GA ENST00000396706 | polymorphism | TN | TN | TN | TN | TN |
chr9:136559460|CT ENST00000371872 | polymorphism | FP | FP | TN | TN | TN |
chr1:185143721|AG ENST00000367500 | polymorphism | TN | TN | TN | TN | TN |
chr5:14713753|CT ENST00000284268 | disease_causing | TP | TP | TP | FN | TP |
chr22:44368122|AG ENST00000350028 | polymorphism | TN | TN | TN | TN | FP |
chr6:121768054|GA ENST00000282561 | disease_causing | TP | TP | FN | TP | TP |
chr9:107568557|AG ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr8:10557760|AG ENST00000304519 | polymorphism | TN | TN | TN | TN | TN |
chr13:20763245|TA ENST00000382848 | disease_causing | FN | FN | TP | FN | FN |
chr1:160105635|TC ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr1:21896819|CT ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr3:58395863|AG ENST00000484288 | polymorphism | TN | TN | TN | TN | FP |
chr11:7817852|CG ENST00000329434 | polymorphism | TN | TN | TN | TN | TN |
chr1:26487940|AG ENST00000374268 | polymorphism | TN | FP | TN | TN | TN |
chr6:29080344|GA ENST00000377169 | polymorphism | TN | TN | TN | TN | TN |
chr2:44102516|GA ENST00000272286 | disease_causing | TP | TP | TP | TP | FN |
chr15:69328226|CT ENST00000530406 | polymorphism | FP | FP | TN | FP | FP |
chr20:17477592|CT ENST00000377873 | polymorphism | TN | TN | TN | TN | TN |
chr2:219525813|GC ENST00000359273 | disease_causing | TP | TP | TP | TP | TP |
chr17:48268769|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr2:166892788|CT ENST00000423058 | polymorphism | TN | TN | TN | TN | TN |
chr10:113935379|TC ENST00000348367 | polymorphism | TN | TN | FP | FP | FP |
chr12:26275297|GC ENST00000242728 | disease_causing | TP | TP | FN | TP | TP |
chr9:34649526|CA ENST00000378842 | disease_causing | TP | TP | FN | TP | TP |
chr1:196716375|CT ENST00000367429 | disease_causing | FN | FN | FN | FN | FN |
chr9:34648401|AC ENST00000378842 | disease_causing | FN | TP | TP | TP | TP |
chr22:40754954|GA ENST00000216194 | disease_causing | FN | FN | TP | FN | TP |
chr2:241810860|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr1:12785494|GT ENST00000359318 | polymorphism | TN | TN | FP | TN | TN |
chr11:108199929|TG ENST00000452508 | disease_causing | TP | TP | TP | TP | TP |
chr9:43129895|CT ENST00000254835 | polymorphism | FP | FP | FP | FP | FP |
chr11:102495998|TG ENST00000260228 | polymorphism | TN | TN | TN | TN | TN |
chr12:14577892|AT ENST00000261168 | polymorphism | TN | TN | TN | FP | TN |
chr6:133052616|CT ENST00000392394 | polymorphism | TN | TN | TN | TN | TN |
chr1:229568814|CG ENST00000366684 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648368|GA ENST00000378842 | disease_causing | TP | TP | FN | FN | TP |
chr2:241808743|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr15:43021264|AT ENST00000356231 | disease_causing | TP | TP | TP | TP | TP |
chr6:74155346|GT ENST00000370318 | polymorphism | FP | FP | FP | FP | FP |
chr7:44185159|CA ENST00000403799 | disease_causing | TP | TP | TP | TP | TP |
chr15:45003775|GC ENST00000558401 | disease_causing | FN | TP | FN | FN | FN |
chr8:104337367|AC ENST00000522566 | polymorphism | TN | TN | TN | TN | FP |
chr14:24909475|CG ENST00000538105 | polymorphism | TN | TN | TN | TN | FP |
chr17:45451894|GA ENST00000331493 | polymorphism | TN | TN | TN | TN | TN |
chr12:68720627|GA ENST00000411698 | polymorphism | TN | FP | FP | FP | TN |
chr6:656143|CA ENST00000380907 | polymorphism | TN | FP | FP | FP | FP |
chr2:11706693|TC ENST00000389825 | polymorphism | TN | TN | TN | TN | TN |
chr19:51728641|AG ENST00000391796 | polymorphism | TN | TN | TN | TN | TN |
chr6:33048661|AG ENST00000418931 | polymorphism | TN | TN | TN | TN | TN |
chr10:12131081|TG ENST00000263035 | polymorphism | TN | TN | TN | TN | FP |
chr10:88683199|TC ENST00000372037 | disease_causing | TP | TP | TP | TP | TP |
chr19:14875388|GA ENST00000392962 | polymorphism | TN | TN | TN | TN | TN |
chr6:35923246|TC ENST00000394602 | polymorphism | TN | TN | TN | TN | TN |
chr17:41267761|CT ENST00000357654 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647894|GA ENST00000378842 | disease_causing | FN | TP | FN | FN | TP |
chr19:42474685|AC ENST00000302102 | disease_causing | TP | TP | TP | TP | TP |
chr12:121177150|CT ENST00000242592 | disease_causing | TP | TP | TP | TP | TP |
chr2:108475958|AG ENST00000408999 | polymorphism | TN | FP | FP | FP | TN |
chr17:48437456|CG ENST0000017003 | polymorphism | TN | TN | TN | FP | TN |
chr12:80083792|GC ENST00000328827 | polymorphism | TN | FP | TN | TN | TN |
chr2:241810839|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648762|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr9:97372280|CT ENST00000375326 | disease_causing | TP | TP | TP | TP | TP |
chr9:130630734|GA ENST00000373176 | disease_causing | TP | TP | TP | TP | TP |
chr1:21890632|GA ENST00000374840 | disease_causing | TP | TP | FN | FN | TP |
chr3:38357961|CG ENST00000273173 | polymorphism | FP | FP | FP | FP | TN |
chr14:55312561|CT ENST00000543643 | disease_causing | TP | TP | TP | TP | TP |
chr13:52523836|CT ENST00000242839 | disease_causing | TP | TP | TP | TP | TP |
chr3:15685874|GA ENST00000449107 | disease_causing | TP | TP | TP | TP | TP |
chr1:201047043|CT ENST00000367338 | disease_causing | TP | TP | TP | TP | TP |
chr14:21991626|CG ENST00000327430 | polymorphism | TN | TN | TN | FP | FP |
chr3:49459670|TC ENST00000458307 | disease_causing | TP | TP | TP | TP | TP |
chr5:79024779|AG ENST00000446378 | polymorphism | TN | TN | TN | TN | TN |
chr1:112308953|TC ENST00000369702 | polymorphism | TN | TN | TN | TN | TN |
chr2:202082459|TA ENST00000313728 | polymorphism | TN | TN | TN | TN | TN |
chr6:116441495|CT ENST00000327673 | disease_causing | TP | TP | TP | TP | TP |
chr6:150210685|CT ENST00000367363 | polymorphism | TN | TN | TN | TN | TN |
chr19:10742170|AG ENST00000586078 | polymorphism | TN | TN | TN | TN | TN |
chr2:241814542|CT ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr19:813220|TC ENST00000520876 | polymorphism | TN | TN | TN | TN | TN |
chr6:42891022|GA ENST00000441198 | polymorphism | FP | FP | TN | TN | TN |
chr5:96086334|GC ENST00000341926 | polymorphism | TN | TN | TN | TN | TN |
chr2:1460004|GT ENST00000349624 | polymorphism | TN | FP | TN | TN | TN |
chr19:58572979|GA ENST00000313434 | polymorphism | TN | TN | TN | TN | TN |
chr6:33272855|GC ENST00000426633 | polymorphism | TN | TN | TN | TN | TN |
chr1:147380344|CT ENST00000369235 | disease_causing | TP | TP | TP | TP | TP |
chr4:88415636|GC ENST00000282470 | polymorphism | TN | TN | TN | TN | TN |
chr9:75315438|GA ENST00000297784 | polymorphism | TN | TN | TN | TN | FP |
chr15:43018584|TA ENST00000356231 | disease_causing | TP | TP | TP | TP | TP |
chr20:43249723|AC ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr12:30881809|TC ENST00000298892 | polymorphism | TN | TN | TN | TN | TN |
chr4:88412806|TC ENST00000418378 | polymorphism | TN | TN | TN | TN | TN |
chr20:43254221|CT ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr2:160743040|TA ENST00000504764 | polymorphism | TN | TN | TN | TN | TN |
chr14:24533539|CA ENST00000342740 | polymorphism | TN | TN | TN | TN | TN |
chr17:58525018|CT ENST0000083182 | polymorphism | TN | TN | TN | TN | TN |
chr11:61724929|AG ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr6:29911207|GA ENST00000376806 | polymorphism | TN | TN | FP | TN | TN |
chr6:10877576|CA ENST00000379491 | disease_causing | TP | TP | TP | TP | TP |
chr1:84944989|AG ENST00000370656 | polymorphism | TN | TN | TN | TN | TN |
chr20:43251694|CT ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr20:34022014|CT ENST00000374369 | disease_causing | TP | TP | TP | TP | TP |
chr18:55362420|CA ENST00000283684 | disease_causing | TP | TP | TP | TP | TP |
chr2:231258150|CT ENST00000396563 | polymorphism | TN | TN | FP | TN | TN |
chr19:54746081|TC ENST00000245621 | polymorphism | TN | TN | TN | TN | TN |
chr9:117103973|AG ENST00000374075 | polymorphism | TN | TN | TN | TN | TN |
chr13:52524488|TC ENST00000400366 | polymorphism | TN | TN | TN | TN | FP |
chr6:32552075|AG ENST00000360004 | polymorphism | TN | TN | FP | TN | TN |
chr19:6919624|AC ENST00000381404 | polymorphism | TN | TN | TN | TN | TN |
chr19:7963949|AG ENST00000306708 | polymorphism | TN | FP | TN | TN | TN |
chr1:158986477|GC ENST00000448393 | polymorphism | TN | TN | TN | TN | TN |
chr6:31324911|CG ENST00000412585 | polymorphism | TN | TN | TN | TN | TN |
chr2:241808723|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr8:144997927|GA ENST00000322810 | polymorphism | TN | TN | TN | TN | TN |
chr11:117693139|CT ENST00000532119 | disease_causing | TP | TP | TP | TP | TP |
chr15:86124555|GA ENST00000361243 | polymorphism | TN | TN | TN | TN | TN |
chr6:136682172|GA ENST00000544465 | polymorphism | FP | FP | FP | FP | FP |
chr3:135720851|GT ENST00000264977 | polymorphism | TN | TN | TN | TN | TN |
chr19:39915758|CG ENST00000409794 | polymorphism | FP | FP | TN | FP | TN |
chr19:53116949|TC ENST00000301096 | polymorphism | TN | TN | FP | FP | TN |
chr19:54664209|GC ENST00000301187 | polymorphism | TN | TN | TN | TN | TN |
chr1:985955|GC ENST00000379370 | disease_causing | TP | TP | TP | TP | TP |
chr20:13053018|TG ENST00000399002 | polymorphism | TN | TN | TN | TN | TN |
chr8:113241088|TG ENST00000455883 | polymorphism | FP | FP | TN | TN | FP |
chr14:23992742|TG ENST00000419474 | polymorphism | TN | TN | TN | TN | TN |
chr1:159409857|AG ENST00000423932 | polymorphism | FP | FP | FP | FP | TN |
chr11:1778573|AT ENST00000236671 | disease_causing | TP | TP | TP | TP | TP |
chr6:33048542|CT ENST00000535465 | polymorphism | TN | TN | TN | TN | TN |
chr6:24528277|GA ENST00000357578 | disease_causing | TP | TP | TP | TP | TP |
chr1:222713631|GC ENST00000343410 | polymorphism | TN | TN | TN | TN | TN |
chr12:57109931|AT ENST00000550952 | polymorphism | TN | TN | TN | TN | TN |
chr1:94474323|AG ENST00000370225 | disease_causing | TP | TP | TP | TP | TP |
chr7:89861832|GA ENST00000394621 | polymorphism | TN | TN | TN | TN | TN |
chr5:33951693|CG ENST00000382102 | polymorphism | FP | FP | FP | FP | FP |
chr19:51520487|AC ENST00000309958 | polymorphism | TN | TN | TN | TN | TN |
chr7:25194665|GC ENST00000409280 | polymorphism | FP | FP | TN | TN | TN |
chr4:1807890|AT ENST00000481110 | disease_causing | TP | TP | TP | TP | TP |
chr11:61726998|GA ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr15:43507389|CT ENST00000300215 | disease_causing | TP | TP | TP | TP | TP |
chr5:180376972|CG ENST00000340184 | polymorphism | FP | FP | TN | TN | TN |
chr1:152692472|AC ENST00000368775 | polymorphism | TN | TN | TN | TN | TN |
chr12:2224456|CT ENST00000335762 | disease_causing | TP | TP | FN | TP | TP |
chr15:101120963|TC ENST00000314742 | polymorphism | TN | TN | TN | TN | TN |
chr1:41485902|CG ENST00000439569 | polymorphism | TN | FP | TN | FP | TN |
chr19:22942325|GC ENST00000397104 | polymorphism | TN | TN | TN | TN | TN |
chr5:78077797|CT ENST00000264914 | disease_causing | FN | FN | FN | FN | TP |
chr1:110607301|GC ENST00000369792 | disease_causing | TP | TP | TP | TP | TP |
chr11:56184888|GA ENST00000312253 | polymorphism | FP | FP | FP | TN | TN |
chr7:140477813|TC ENST00000288602 | disease_causing | FN | FN | TP | TP | TP |
chr19:57746353|GA ENST00000302804 | disease_causing | TP | TP | TP | TP | TP |
chr15:48725140|CG ENST00000316623 | disease_causing | TP | TP | TP | TP | TP |
chr9:712156|TG ENST00000354485 | polymorphism | TN | TN | TN | TN | TN |
chr7:134678253|TA ENST00000435976 | polymorphism | TN | TN | TN | TN | TN |
chr12:76742107|AC ENST00000393262 | disease_causing | FN | FN | TP | TP | FN |
chr7:2645552|AG ENST00000402050 | polymorphism | TN | TN | TN | TN | TN |
chr19:42489234|CT ENST00000302102 | disease_causing | TP | TP | TP | TP | TP |
chr11:134132450|GA ENST00000281182 | disease_causing | TP | TP | TP | TP | TP |
chr19:871135|AG ENST00000269814 | polymorphism | TN | TN | TN | FP | TN |
chr1:36752433|CT ENST00000469141 | polymorphism | TN | TN | TN | TN | FP |
chr17:14005522|CA ENST00000261643 | disease_causing | TP | TP | TP | TP | TP |
chr11:19854088|GA ENST00000396085 | polymorphism | TN | TN | TN | TN | TN |
chr11:68548130|GA ENST00000540367 | disease_causing | TP | TP | TP | TP | TP |
chr8:363192|GA ENST00000276326 | polymorphism | TN | TN | TN | TN | TN |
chr19:50463982|TG ENST00000458019 | polymorphism | TN | TN | FP | TN | TN |
chr1:6614535|GA ENST00000377705 | polymorphism | FP | FP | TN | FP | TN |
chr6:32632647|TC ENST00000374943 | polymorphism | TN | TN | TN | TN | TN |
chr22:44282276|AG ENST00000216177 | polymorphism | TN | TN | TN | TN | TN |
chr9:107367431|AT ENST00000542196 | polymorphism | TN | TN | TN | TN | TN |
chr17:39890715|AT ENST00000310778 | polymorphism | TN | FP | TN | TN | TN |
chr1:153320372|TG ENST00000368739 | polymorphism | TN | TN | TN | TN | TN |
chr16:56548486|AC ENST00000568104 | disease_causing | TP | TP | TP | TP | TP |
chr19:13008527|GA ENST00000222214 | disease_causing | FN | TP | TP | TP | TP |
chr3:121976155|CT ENST00000490131 | disease_causing | TP | TP | FN | TP | TP |
chr22:25019155|TC ENST00000400382 | polymorphism | TN | TN | TN | TN | TN |
chr7:114302130|GA ENST00000393494 | disease_causing | TP | TP | TP | TP | TP |
chr19:53086124|CA ENST00000540331 | polymorphism | TN | TN | TN | TN | TN |
chr5:79733079|TC ENST00000338008 | polymorphism | TN | TN | TN | TN | TN |
chr15:22969232|GA ENST00000435939 | polymorphism | TN | TN | TN | TN | TN |
chr16:31202740|GA ENST00000254108 | disease_causing | FN | FN | FN | TP | TP |
chr12:8759547|GA ENST00000229335 | disease_causing | TP | TP | TP | TP | TP |
chr17:67212423|GA ENST00000269081 | polymorphism | TN | TN | TN | TN | TN |
chr6:74497009|AG ENST00000287097 | polymorphism | TN | TN | TN | TN | TN |
chr7:37947164|GT ENST00000436072 | polymorphism | TN | TN | TN | TN | TN |
chr16:81388232|GA ENST00000248272 | disease_causing | TP | TP | TP | TP | TP |
chr19:45918128|GC ENST00000300853 | disease_causing | FN | TP | TP | FN | FN |
chr20:23017082|TC ENST00000255008 | polymorphism | TN | TN | TN | TN | TN |
chr12:53088484|CT ENST00000341809 | polymorphism | TN | TN | TN | TN | TN |
chr6:116441489|TC ENST00000327673 | disease_causing | TP | TP | TP | FN | TP |
chr14:59113430|GA ENST00000395153 | polymorphism | TN | TN | TN | TN | TN |
chr17:4804155|TG ENST00000293780 | disease_causing | TP | TP | TP | TP | TP |
chr2:241810791|TC ENST00000307503 | disease_causing | FN | FN | TP | FN | TP |
chr1:94508976|CT ENST00000370225 | disease_causing | FN | FN | FN | FN | FN |
chr17:20108239|AT ENST00000395530 | polymorphism | TN | TN | TN | TN | TN |
chr11:107992346|GC ENST00000265838 | polymorphism | TN | FP | TN | FP | TN |
chr11:61913196|GT ENST00000278849 | polymorphism | FP | FP | TN | TN | FP |
chr5:145483844|AT ENST00000311450 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648346|TC ENST00000378842 | disease_causing | FN | FN | TP | TP | TP |
chr6:31239407|GT ENST00000376228 | polymorphism | TN | TN | TN | TN | TN |
chr1:155206119|AC ENST00000327247 | disease_causing | TP | TP | TP | TP | TP |
chr15:43762196|CT ENST00000263801 | polymorphism | TN | TN | TN | FP | TN |
chr5:127671235|AC ENST00000508053 | disease_causing | TP | TP | TP | TP | TP |
chr11:120989335|AG ENST00000392793 | polymorphism | TN | TN | TN | TN | TN |
chr19:45912406|GA ENST00000309424 | polymorphism | TN | TN | TN | TN | TN |
chr7:140501336|CG ENST00000288602 | disease_causing | TP | TP | TP | TP | TP |
chr15:73027508|CA ENST00000268057 | disease_causing | TP | TP | TP | TP | TP |
chr9:111945049|TG ENST00000374566 | polymorphism | TN | TN | TN | TN | TN |
chr14:21161878|GA ENST00000336811 | disease_causing | FN | FN | FN | FN | FN |
chr3:183854422|TG ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr2:135893372|AG ENST00000264158 | polymorphism | TN | TN | TN | TN | TN |
chr14:50778816|AC ENST00000261699 | polymorphism | TN | TN | TN | TN | TN |
chr14:20925154|TG ENST00000398030 | polymorphism | TN | TN | TN | TN | TN |
chr2:220286192|TC ENST00000373960 | disease_causing | TP | TP | TP | TP | TP |
chr1:36557619|GA ENST00000373178 | polymorphism | TN | TN | TN | TN | FP |
chr21:27269931|GA ENST00000346798 | disease_causing | FN | TP | FN | FN | TP |
chr8:145007187|GA ENST00000398774 | polymorphism | TN | TN | TN | TN | TN |
chr11:4976241|CG ENST00000380371 | polymorphism | TN | TN | TN | TN | TN |
chr1:45797505|CG ENST00000372110 | polymorphism | TN | TN | TN | TN | TN |
chr19:55333275|GT ENST00000391728 | polymorphism | FP | FP | FP | TN | TN |
chr2:220502367|AC ENST00000273063 | polymorphism | TN | TN | TN | TN | TN |
chr11:9769562|CG ENST00000318950 | polymorphism | TN | TN | TN | TN | FP |
chr11:17415881|GA ENST00000389817 | disease_causing | TP | TP | TP | TP | TP |
chr20:61870727|GC ENST00000217169 | polymorphism | TN | TN | TN | TN | TN |
chr19:22574818|TC ENST00000357774 | polymorphism | TN | TN | FP | FP | TN |
chr9:34649453|GT ENST00000378842 | disease_causing | FN | TP | TP | TP | TP |
chr4:122768628|TC ENST00000264499 | disease_causing | FN | FN | FN | FN | TP |
chr3:58064531|GT ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr13:46946157|CT ENST00000378797 | polymorphism | TN | TN | TN | TN | TN |
chr11:1246941|AG ENST00000447027 | polymorphism | TN | TN | TN | TN | TN |
chr9:34649500|GA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr14:54418663|TC ENST00000559087 | disease_causing | TP | TP | FN | FN | TP |
chr9:34647526|AG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:229568470|AG ENST00000366684 | disease_causing | TP | TP | TP | TP | TP |
chr12:133331537|GA ENST00000357997 | polymorphism | TN | FP | TN | TN | TN |
chr10:56423968|AC ENST00000395432 | polymorphism | TN | TN | TN | FP | TN |
chr1:110299691|GA ENST00000361852 | polymorphism | TN | TN | FP | TN | TN |
chr20:34021789|CT ENST00000374369 | disease_causing | TP | TP | TP | TP | TP |
chr5:78280788|CT ENST00000264914 | disease_causing | TP | TP | TP | TP | TP |
chr1:76215129|CT ENST00000370841 | disease_causing | TP | TP | TP | TP | TP |
chr11:116703532|AG ENST00000227667 | disease_causing | FN | TP | FN | FN | FN |
chr4:100443720|GA ENST00000326581 | polymorphism | TN | TN | TN | TN | TN |
chr12:106633569|CT ENST00000378026 | polymorphism | TN | TN | TN | TN | TN |
chr10:22839628|TC ENST00000376573 | polymorphism | TN | TN | TN | TN | FP |
chr2:241808666|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr2:29432739|AG ENST00000389048 | disease_causing | TP | TP | TP | TP | TP |
chr8:143436034|AG ENST00000519651 | polymorphism | TN | TN | TN | TN | TN |
chr19:501900|CA ENST00000215637 | polymorphism | FP | FP | TN | TN | TN |
chr4:515489|GA ENST00000509768 | polymorphism | TN | TN | TN | TN | TN |
chr6:135358567|TG ENST00000367822 | polymorphism | TN | TN | TN | TN | TN |
chr2:234863788|GA ENST00000324695 | polymorphism | TN | TN | TN | TN | TN |
chr2:96993757|CT ENST00000439118 | polymorphism | FP | FP | TN | TN | TN |
chr4:155506947|TA ENST00000302053 | disease_causing | FN | TP | FN | FN | FN |
chr3:56667682|GC ENST00000493960 | polymorphism | TN | TN | TN | TN | TN |
chr12:89917518|AG ENST00000529983 | polymorphism | TN | TN | TN | TN | TN |
chr6:3727811|CG ENST00000380283 | polymorphism | TN | TN | TN | TN | TN |
chr7:117199533|GA ENST000003084 | polymorphism | TN | TN | TN | TN | TN |
chr1:193094301|TC ENST00000367435 | disease_causing | TP | TP | TP | TP | TP |
chr5:138856982|CT ENST00000330794 | polymorphism | FP | FP | TN | FP | FP |
chr19:40743886|CT ENST00000392038 | disease_causing | TP | TP | TP | TP | TP |
chr20:43251552|GA ENST00000372874 | disease_causing | FN | TP | FN | TP | TP |
chr19:22940046|CA ENST00000397104 | polymorphism | TN | TN | TN | TN | TN |
chr8:7308386|TC ENST00000458665 | polymorphism | TN | TN | TN | TN | TN |
chr11:61719294|AC ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr16:16248756|GA ENST00000205557 | disease_causing | TP | TP | TP | TP | TP |
chr18:8783835|TC ENST00000400050 | polymorphism | TN | TN | FP | FP | FP |
chr17:48610272|GC ENST00000537145 | polymorphism | TN | TN | TN | TN | TN |
chr7:55229255|GA ENST00000344576 | polymorphism | TN | TN | TN | TN | TN |
chr15:94945719|GT ENST00000557742 | polymorphism | TN | TN | TN | TN | TN |
chr9:114454544|TC ENST00000394779 | polymorphism | FP | FP | FP | FP | TN |
chr17:3493200|CG ENST00000399756 | polymorphism | TN | TN | TN | TN | TN |
chr12:4481788|AG ENST00000237837 | disease_causing | TP | TP | TP | TP | TP |
chr16:1538464|CT ENST00000293922 | polymorphism | TN | TN | TN | FP | TN |
chr13:20763492|AG ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648128|GA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr6:31237802|AG ENST00000383329 | polymorphism | TN | TN | TN | TN | TN |
chr1:46086077|CT ENST00000421127 | polymorphism | TN | TN | TN | TN | TN |
chr1:65867519|GA ENST00000395325 | polymorphism | TN | TN | TN | TN | TN |
chr4:96075771|CT ENST00000515059 | disease_causing | TP | TP | TP | TP | TP |
chr9:136405747|CT ENST00000354484 | disease_causing | TP | TP | TP | TP | TP |
chr8:10383138|GA ENST00000328655 | polymorphism | TN | TN | TN | TN | TN |
chr19:36002381|CT ENST00000424570 | polymorphism | TN | TN | TN | FP | TN |
chr9:136435468|GA ENST00000354484 | disease_causing | TP | TP | TP | TP | TP |
chr6:7581636|GA ENST00000379802 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647879|CT ENST00000378842 | disease_causing | FN | TP | TP | TP | TP |
chr9:116931445|TC ENST00000356083 | polymorphism | TN | TN | TN | TN | TN |
chr19:36142204|GA ENST00000246554 | disease_causing | FN | TP | TP | TP | TP |
chr15:40914177|TC ENST00000346991 | polymorphism | FP | FP | FP | TN | TN |
chr17:48268230|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr10:105205302|AC ENST00000369797 | polymorphism | TN | TN | TN | FP | TN |
chr1:21900187|GA ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr6:32632818|TG ENST00000434651 | polymorphism | TN | TN | TN | TN | TN |
chr6:29912108|GC ENST00000376809 | polymorphism | TN | TN | TN | TN | TN |
chr15:79083120|GA ENST00000388820 | polymorphism | FP | FP | FP | FP | FP |
chr6:32610461|AG ENST00000343139 | polymorphism | TN | TN | TN | TN | TN |
chr20:1895984|CA ENST00000356025 | polymorphism | TN | FP | FP | TN | FP |
chr19:855978|GT ENST00000590230 | disease_causing | TP | TP | TP | TP | TP |
chr10:69933969|GA ENST00000354393 | polymorphism | TN | TN | TN | TN | TN |
chr16:89293271|AC ENST00000306502 | polymorphism | TN | FP | TN | TN | TN |
chr12:108618630|CT ENST00000549903 | polymorphism | FP | FP | TN | TN | FP |
chr9:100823135|GC ENST00000210444 | polymorphism | TN | TN | TN | TN | FP |
chr2:95537622|AG ENST00000427593 | polymorphism | TN | TN | TN | TN | TN |
chr2:136555659|TC ENST00000264162 | polymorphism | TN | TN | TN | TN | TN |
chr15:43023473|TC ENST00000356231 | disease_causing | FN | FN | FN | FN | TP |
chr9:107566949|GA ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr15:42681199|GA ENST00000356316 | polymorphism | TN | TN | TN | TN | TN |
chr8:87567193|CT ENST00000521271 | polymorphism | TN | TN | TN | TN | FP |
chr21:45706554|AG ENST00000291582 | disease_causing | TP | TP | TP | FN | TP |
chr9:136289572|CT ENST00000371929 | disease_causing | TP | TP | TP | TP | TP |
chr17:37319103|TC ENST00000269586 | polymorphism | TN | TN | FP | TN | FP |
chr12:50344912|GT ENST00000199280 | disease_causing | TP | TP | TP | TP | TP |
chr18:57147460|AT ENST00000439986 | disease_causing | TP | TP | TP | TP | TP |
chr11:124767067|TC ENST00000306534 | polymorphism | TN | TN | TN | TN | TN |
chr1:161761276|GC ENST00000367942 | polymorphism | TN | TN | TN | TN | TN |
chr2:220355529|AG ENST00000312358 | polymorphism | TN | TN | TN | TN | TN |
chr21:18937758|AG ENST00000400166 | polymorphism | TN | TN | TN | FP | TN |
chr2:49216161|AG ENST00000406846 | disease_causing | TP | FN | TP | TP | TP |
chr13:52534334|CT ENST00000242839 | disease_causing | TP | TP | TP | FN | TP |
chr19:13010300|CT ENST00000222214 | disease_causing | TP | TP | TP | TP | TP |
chr16:68719191|GA ENST00000264012 | disease_causing | TP | TP | TP | TP | TP |
chr16:2328017|TG ENST00000301732 | disease_causing | TP | TP | TP | TP | TP |
chr11:103026205|TC ENST00000375735 | disease_causing | TP | TP | TP | TP | TP |
chr15:44943757|AG ENST00000558319 | polymorphism | TN | TN | TN | TN | TN |
chr19:44832875|AG ENST00000536500 | polymorphism | TN | TN | TN | TN | TN |
chr9:131285955|AG ENST00000309971 | polymorphism | TN | TN | TN | TN | TN |
chr1:150769339|AG ENST00000271651 | disease_causing | TP | TP | FN | FN | TP |
chr16:84028014|CG ENST00000305202 | polymorphism | TN | TN | TN | TN | TN |
chr6:29012067|CT ENST00000377175 | polymorphism | FP | FP | FP | FP | FP |
chr12:8758000|AG ENST00000229335 | disease_causing | TP | TP | TP | TP | TP |
chr12:20905250|CT ENST00000545102 | polymorphism | FP | FP | TN | FP | FP |
chr1:169500043|TC ENST00000367797 | disease_causing | TP | TP | TP | TP | TP |
chr11:71548492|CT ENST00000328698 | polymorphism | TN | FP | FP | FP | TN |
chr11:68560809|GA ENST00000540367 | disease_causing | TP | TP | TP | TP | TP |
chr4:38879949|GA ENST00000358869 | polymorphism | TN | TN | FP | TN | TN |
chr9:26978259|AG ENST00000429045 | polymorphism | TN | TN | TN | TN | FP |
chr1:162746015|CT ENST00000367922 | disease_causing | TP | TP | TP | TP | TP |
chr4:83582211|CG ENST00000273908 | polymorphism | TN | TN | TN | TN | TN |
chr19:54725156|TC ENST00000346401 | polymorphism | TN | TN | TN | TN | TN |
chr4:156273768|TC ENST00000311277 | polymorphism | TN | TN | TN | TN | TN |
chr9:71687593|AG ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr1:248202344|GC ENST00000366479 | polymorphism | TN | TN | TN | TN | TN |
chr1:21903932|GA ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr6:33048539|TA ENST00000535465 | polymorphism | TN | TN | TN | TN | TN |
chr7:94053657|GA ENST00000297268 | disease_causing | TP | TP | TP | TP | TP |
chr18:67871343|AC ENST00000255674 | polymorphism | TN | TN | TN | TN | TN |
chr3:38524764|GA ENST00000352511 | disease_causing | FN | FN | FN | FN | TP |
chr10:82363404|AG ENST00000313455 | polymorphism | TN | TN | TN | TN | TN |
chr6:74493432|AC ENST00000437994 | polymorphism | TN | TN | TN | TN | TN |
chr11:108014766|GC ENST00000265838 | disease_causing | FN | TP | FN | TP | FN |
chr10:47756662|TG ENST00000374277 | polymorphism | TN | TN | TN | TN | TN |
chr17:44374154|CT ENST00000393466 | polymorphism | TN | FP | FP | TN | TN |
chr9:107584795|GA ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr4:95173779|TC ENST00000354268 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647250|GA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr9:107593308|TC ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr7:73969541|AG ENST00000476977 | polymorphism | TN | TN | TN | TN | TN |
chr1:76200535|GA ENST00000370841 | disease_causing | FN | FN | FN | TP | TP |
chr9:34648816|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr14:81251255|TC ENST00000281129 | polymorphism | FP | FP | TN | TN | FP |
chr10:123274803|GC ENST00000358487 | disease_causing | TP | TP | FN | TP | TP |
chr6:146007412|GA ENST00000367519 | disease_causing | TP | TP | TP | TP | TP |
chr6:6248561|CT ENST00000264870 | disease_causing | TP | TP | TP | TP | TP |
chr5:140793007|AG ENST00000398610 | polymorphism | TN | TN | TN | TN | TN |
chr2:241818210|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr16:89245959|CT ENST00000289746 | disease_causing | TP | TP | TP | TP | TP |
chr10:123276856|GC ENST00000358487 | disease_causing | TP | TP | TP | TP | TP |
chr17:48262867|AG ENST00000225964 | disease_causing | FN | TP | TP | TP | TP |
chr14:73727509|TG ENST00000555445 | polymorphism | TN | TN | TN | TN | TN |
chr14:45432870|GC ENST00000382233 | polymorphism | TN | TN | TN | TN | TN |
chr22:43026905|CT ENST00000352397 | disease_causing | TP | TP | FN | FN | TP |
chr6:116441508|AG ENST00000327673 | disease_causing | TP | TP | TP | TP | TP |
chr1:160105300|TC ENST00000361216 | disease_causing | FN | TP | TP | TP | TP |
chr1:150778585|CT ENST00000271651 | disease_causing | TP | TP | TP | TP | TP |
chr8:75272530|AC ENST00000220822 | disease_causing | TP | TP | FN | FN | TP |
chr1:22141206|AC ENST00000344642 | polymorphism | TN | TN | TN | TN | TN |
chr1:21889712|GA ENST00000374840 | disease_causing | TP | TP | FN | FN | TP |
chr15:40915190|AG ENST00000399668 | polymorphism | TN | TN | TN | TN | TN |
chr12:55641328|GA ENST00000343870 | polymorphism | TN | FP | FP | FP | TN |
chr16:53358439|AG ENST00000398510 | polymorphism | TN | TN | TN | TN | FP |
chr3:14174427|AT ENST00000306077 | polymorphism | TN | TN | TN | TN | FP |
chr2:219527906|GA ENST00000359273 | disease_causing | FN | TP | FN | TP | TP |
chr17:39884583|GA ENST00000347901 | polymorphism | TN | FP | TN | TN | TN |
chr9:136313839|TG ENST00000371929 | disease_causing | TP | TP | TP | TP | TP |
chr5:78264979|AG ENST00000264914 | disease_causing | TP | TP | TP | FN | TP |
chr2:240923050|CT ENST00000307300 | polymorphism | TN | FP | TN | TN | TN |
chr1:196709842|GA ENST00000367429 | disease_causing | TP | TP | TP | TP | FN |
chr2:228493211|GA ENST00000264387 | polymorphism | TN | TN | TN | FP | TN |
chr2:220037756|AG ENST00000409789 | polymorphism | TN | TN | TN | TN | TN |
chr15:42695170|GA ENST00000357568 | disease_causing | TP | TP | TP | TP | TP |
chr22:42912106|CT ENST00000323013 | polymorphism | TN | TN | TN | TN | TN |
chr1:21889628|CT ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr18:52265308|AC ENST00000321600 | polymorphism | TN | TN | TN | FP | TN |
chr6:29911086|TC ENST00000376809 | polymorphism | TN | TN | TN | TN | TN |
chr17:4805305|GA ENST00000293780 | disease_causing | TP | TP | TP | TP | TP |
chr2:219525942|AG ENST00000359273 | disease_causing | TP | TP | TP | TP | TP |
chr3:183854445|GA ENST00000273783 | disease_causing | FN | FN | TP | TP | TP |
chr17:59937223|GC ENST00000259008 | disease_causing | TP | TP | TP | FN | TP |
chr4:96051026|TA ENST00000515059 | disease_causing | TP | TP | TP | TP | TP |
chr4:95561459|AG ENST00000317968 | polymorphism | TN | TN | TN | TN | TN |
chr1:100382048|GC ENST00000361915 | disease_causing | TP | TP | TP | TP | TP |
chr1:43919413|AG ENST00000372425 | polymorphism | TN | TN | TN | TN | TN |
chr10:102748919|GA ENST00000311916 | disease_causing | TP | TP | TP | TP | TP |
chr6:135754263|CT ENST00000367800 | disease_causing | TP | TP | TP | TP | TP |
chr15:40504755|GA ENST00000287598 | disease_causing | TP | TP | TP | TP | TP |
chr6:155761246|GT ENST00000159060 | polymorphism | FP | FP | TN | TN | FP |
chr19:49964977|CG ENST00000293350 | polymorphism | TN | TN | TN | TN | TN |
chr9:34649460|GA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr12:4479730|GA ENST00000237837 | disease_causing | TP | TP | TP | TP | TP |
chr18:28649042|TC ENST00000251081 | polymorphism | TN | TN | TN | TN | TN |
chr2:220286087|GC ENST00000373960 | disease_causing | TP | TP | TP | TP | TP |
chr22:50878196|GA ENST00000395741 | polymorphism | TN | TN | TN | TN | TN |
chr16:81398610|TC ENST00000248272 | disease_causing | TP | TP | TP | TP | TP |
chr3:183854522|AT ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr17:38131187|CA ENST00000301659 | polymorphism | FP | FP | TN | TN | TN |
chr11:130784754|CG ENST00000533214 | polymorphism | TN | TN | TN | TN | TN |
chr6:150342232|GA ENST00000367341 | polymorphism | TN | TN | TN | TN | TN |
chr9:34649472|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr17:48271726|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr6:43184132|AC ENST00000372647 | polymorphism | TN | TN | TN | TN | TN |
chr18:57134004|AG ENST00000439986 | disease_causing | TP | TP | TP | TP | TP |
chr10:129917560|TC ENST00000368653 | polymorphism | FP | FP | TN | TN | TN |
chr1:29631909|AG ENST00000428026 | polymorphism | TN | TN | TN | TN | TN |
chr4:1803564|CT ENST00000340107 | disease_causing | TP | TP | TP | TP | TP |
chr9:116153078|CT ENST00000409155 | disease_causing | TP | TP | TP | TP | TP |
chr14:24423007|GA ENST00000558581 | polymorphism | TN | TN | TN | TN | TN |
chr8:17743020|GA ENST00000398054 | polymorphism | TN | TN | TN | TN | TN |
chr15:89836228|GC ENST00000310775 | polymorphism | TN | TN | TN | TN | FP |
chr10:129901726|CT ENST00000368653 | polymorphism | TN | TN | TN | TN | TN |
chr20:62194030|GC ENST00000467148 | polymorphism | TN | TN | TN | TN | TN |
chr15:89415269|GA ENST00000559004 | disease_causing | TP | TP | TP | TP | TP |
chr19:13007748|GA ENST00000422947 | disease_causing | TP | TP | TP | TP | TP |
chr9:97372240|GT ENST00000375326 | disease_causing | TP | TP | FN | TP | TP |
chr14:55332094|AT ENST00000543643 | disease_causing | TP | TP | TP | TP | TP |
chr22:39917515|AC ENST00000396680 | polymorphism | TN | TN | TN | TN | FP |
chr8:124664130|CT ENST00000325995 | polymorphism | TN | TN | TN | TN | TN |
chr17:48264274|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr11:68549350|GA ENST00000540367 | disease_causing | TP | TP | TP | TP | TP |
chr6:30893428|GA ENST00000416670 | polymorphism | TN | TN | TN | TN | TN |
chr5:36269551|GC ENST00000502994 | polymorphism | TN | TN | TN | TN | TN |
chr2:220286216|AT ENST00000373960 | disease_causing | TP | TP | TP | TP | TP |
chr3:121975938|CT ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr2:191301368|AG ENST00000392328 | polymorphism | TN | TN | TN | TN | TN |
chr10:55755491|CT ENST00000373965 | polymorphism | TN | TN | TN | TN | TN |
chr11:68552377|GA ENST00000540367 | disease_causing | TP | TP | TP | FN | TP |
chr5:180631894|GA ENST00000334421 | polymorphism | TN | TN | TN | TN | TN |
chr2:242815059|CT ENST00000343216 | polymorphism | FP | FP | TN | TN | TN |
chr1:223954080|AC ENST00000295006 | polymorphism | TN | TN | FP | FP | FP |
chr19:35435006|GA ENST00000303586 | polymorphism | TN | TN | TN | TN | TN |
chr11:17483314|AC ENST00000389817 | disease_causing | FN | FN | FN | FN | TP |
chr6:80877407|TG ENST00000369760 | disease_causing | TP | TP | TP | TP | TP |
chr5:75948650|AG ENST00000396234 | polymorphism | TN | TN | TN | TN | TN |
chr9:71687539|GC ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr4:4304605|GA ENST00000337872 | polymorphism | TN | TN | TN | TN | TN |
chr18:46645236|AG ENST00000442713 | disease_causing | TP | TP | TP | TP | TP |
chr3:15677121|CT ENST00000449107 | disease_causing | TP | TP | TP | TP | TP |
chr9:107581111|CA ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647662|GA ENST00000378842 | disease_causing | FN | FN | FN | FN | TP |
chr6:90326360|CT ENST00000369408 | polymorphism | TN | FP | TN | TN | TN |
chr16:88497446|AG ENST00000437464 | polymorphism | TN | TN | TN | TN | TN |
chr3:15686731|AC ENST00000449107 | disease_causing | TP | TP | TP | TP | TP |
chr22:30860830|CT ENST00000402286 | polymorphism | TN | FP | FP | FP | FP |
chr9:34648340|AG ENST00000378842 | disease_causing | FN | FN | TP | TP | TP |
chr1:169524537|CG ENST00000367797 | disease_causing | TP | TP | TP | FN | FN |
chr11:6411935|TC ENST00000299397 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648116|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:24409191|CT ENST00000329601 | polymorphism | FP | FP | FP | FP | FP |
chr19:11465316|GC ENST00000458408 | polymorphism | TN | TN | TN | TN | TN |
chr3:121976194|CT ENST00000490131 | disease_causing | TP | TP | FN | TP | TP |
chr8:75272419|CT ENST00000220822 | disease_causing | TP | TP | TP | TP | TP |
chr14:102894593|GA ENST00000558678 | polymorphism | TN | TN | TN | TN | TN |
chr1:160098797|CT ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr5:127622491|TC ENST00000508053 | polymorphism | TN | TN | TN | TN | FP |
chr1:160098551|CT ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr5:78135214|TG ENST00000264914 | disease_causing | TP | TP | TP | TP | TP |
chr3:58121842|CT ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr16:2162361|AG ENST00000262304 | polymorphism | TN | TN | TN | TN | TN |
chr9:131565554|TC ENST00000372648 | polymorphism | TN | TN | TN | TN | TN |
chr17:44067382|TC ENST00000344290 | polymorphism | TN | TN | TN | TN | TN |
chr4:1806104|GT ENST00000481110 | disease_causing | TP | TP | TP | TP | TP |
chr1:110604172|TC ENST00000369792 | disease_causing | TP | TP | TP | TP | TP |
chr1:21546501|GA ENST00000415912 | disease_causing | TP | TP | TP | TP | FN |
chr5:55264153|CG ENST00000522633 | polymorphism | TN | TN | TN | TN | TN |
chr3:121994675|GA ENST00000490131 | disease_causing | FN | TP | FN | FN | TP |
chr6:30893127|GA ENST00000416670 | polymorphism | FP | FP | FP | FP | FP |
chr1:35250488|GC ENST00000373366 | disease_causing | TP | TP | TP | FN | TP |
chr19:53612720|TC ENST00000500065 | polymorphism | TN | TN | FP | TN | TN |
chr6:33142311|CT ENST00000374708 | disease_causing | TP | TP | TP | TP | TP |
chr11:17415842|CT ENST00000389817 | disease_causing | TP | TP | TP | TP | TP |
chr8:95188850|TC ENST0000027335 | polymorphism | TN | TN | TN | TN | TN |
chr11:1268608|AG ENST00000529681 | polymorphism | TN | TN | TN | TN | TN |
chr6:33145920|GT ENST00000374708 | disease_causing | FN | TP | TP | FN | TP |
chr2:225368370|TC ENST00000264414 | disease_causing | FN | TP | FN | FN | TP |
chr15:55759193|TC ENST00000457155 | polymorphism | TN | TN | TN | TN | TN |
chr13:20763525|CG ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr7:94056966|GA ENST00000297268 | disease_causing | TP | TP | TP | TP | TP |
chr17:3397701|AG ENST00000456349 | disease_causing | TP | TP | TP | TP | TP |
chr7:31682453|CT ENST00000451887 | polymorphism | TN | FP | TN | TN | TN |
chr2:189864080|GA ENST00000304636 | polymorphism | TN | TN | TN | TN | TN |
chr14:60903757|GA ENST00000321731 | polymorphism | TN | TN | TN | TN | TN |
chr17:72927123|GT ENST00000580223 | polymorphism | FP | FP | FP | FP | TN |
chr10:3202065|TC ENST00000451104 | polymorphism | TN | TN | TN | TN | TN |
chr11:62459885|CG ENST00000405837 | disease_causing | TP | TP | TP | TP | TP |
chr6:3010390|CT ENST00000380430 | polymorphism | TN | TN | TN | TN | TN |
chr18:3126811|AG ENST00000400569 | polymorphism | TN | TN | TN | TN | TN |
chr6:31379817|TC ENST00000364810 | polymorphism | TN | TN | TN | TN | TN |
chr16:28745909|AG ENST00000331666 | polymorphism | TN | TN | TN | TN | FP |
chr11:51516000|CT ENST00000328188 | polymorphism | FP | FP | FP | FP | TN |
chr17:7127326|TC ENST00000543245 | disease_causing | FN | FN | TP | FN | TP |
chr16:84522897|GC ENST00000343629 | polymorphism | TN | TN | TN | TN | TN |
chr22:32871054|CT ENST00000266087 | disease_causing | TP | TP | TP | TP | TP |
chr12:4830000|TG ENST00000252318 | polymorphism | TN | TN | TN | TN | TN |
chr6:132198145|GC ENST00000360971 | disease_causing | TP | TP | TP | TP | TP |
chr2:214727221|AC ENST00000374309 | polymorphism | TN | TN | TN | TN | TN |
chr2:219695487|GC ENST00000392098 | polymorphism | TN | TN | TN | TN | TN |
chr12:53701879|GA ENST00000209873 | disease_causing | FN | TP | FN | TP | TP |
chr13:20763545|CG ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr2:240982116|CA ENST00000408934 | polymorphism | TN | FP | TN | FP | TN |
chr16:66432423|TC ENST00000341529 | polymorphism | TN | TN | TN | TN | TN |
chr2:49191041|CT ENST00000304421 | polymorphism | TN | TN | TN | TN | TN |
chr3:49456455|CG ENST00000458307 | disease_causing | TP | TP | TP | TP | TP |
chr1:35250464|TC ENST00000373366 | disease_causing | TP | TP | TP | TP | TP |
chr3:187446211|CT ENST00000450123 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647933|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr5:44388468|CA ENST00000264664 | disease_causing | TP | TP | FN | TP | TP |
chr11:68548173|CA ENST00000540367 | disease_causing | TP | TP | TP | TP | TP |
chr12:65150485|CT ENST00000543646 | polymorphism | TN | TN | TN | TN | TN |
chr19:55317669|CG ENST00000396289 | polymorphism | TN | TN | FP | TN | TN |
chr19:53209554|GT ENST00000540744 | polymorphism | TN | TN | TN | TN | TN |
chr2:160673526|AG ENST00000553424 | polymorphism | TN | TN | TN | TN | TN |
chr7:128317658|CT ENST00000474069 | polymorphism | FP | FP | FP | TN | TN |
chr17:4804140|GA ENST00000293780 | disease_causing | TP | TP | TP | TP | TP |
chr2:219526568|CT ENST00000359273 | disease_causing | TP | TP | TP | TP | TP |
chr8:17919892|GC ENST00000262097 | disease_causing | TP | TP | TP | TP | TP |
chr12:52310002|CT ENST00000388922 | disease_causing | TP | TP | TP | TP | TP |
chr3:122003119|TG ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr2:130900188|AG ENST00000392984 | polymorphism | TN | TN | TN | TN | TN |
chr20:34219496|TC ENST00000317619 | polymorphism | TN | TN | TN | TN | TN |
chr4:41015899|CT ENST00000295974 | polymorphism | TN | TN | TN | TN | TN |
chr9:71679932|TC ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr19:3750615|TC ENST00000262968 | polymorphism | TN | TN | TN | TN | TN |
chr1:156907081|TC ENST00000361409 | polymorphism | TN | TN | TN | TN | TN |
chr19:45858032|TG ENST00000391945 | disease_causing | TP | TP | TP | TP | TP |
chr1:154293675|GA ENST00000484864 | polymorphism | TN | TN | TN | TN | TN |
chr11:96116444|TC ENST00000278520 | polymorphism | TN | TN | TN | TN | TN |
chr6:30314567|CA ENST00000428040 | polymorphism | TN | TN | TN | TN | TN |
chr12:50348016|GA ENST00000199280 | disease_causing | TP | TP | TP | TP | TP |
chr4:71509086|TC ENST00000396073 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648453|GT ENST00000378842 | disease_causing | FN | FN | TP | FN | TP |
chr12:8757823|TC ENST00000229335 | disease_causing | TP | TP | TP | TP | TP |
chr2:130832358|TC ENST00000357462 | polymorphism | TN | TN | TN | TN | TN |
chr10:20506418|GA ENST00000377252 | polymorphism | TN | TN | TN | TN | TN |
chr9:71679858|GT ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr2:201736166|AC ENST00000409449 | polymorphism | TN | TN | TN | TN | FP |
chr9:34647679|AC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr17:19561175|GC ENST00000176643 | disease_causing | TP | TP | TP | FN | TP |
chr5:141019110|CA ENST00000518856 | polymorphism | TN | TN | TN | TN | TN |
chr2:49190243|GA ENST00000406846 | disease_causing | TP | TP | TP | TP | TP |
chr19:55672470|TC ENST00000455045 | polymorphism | TN | FP | FP | FP | TN |
chr2:220286204|AC ENST00000373960 | disease_causing | TP | TP | TP | TP | TP |
chr2:234750542|GC ENST00000432087 | polymorphism | TN | TN | TN | TN | TN |
chr8:133920518|AG ENST00000377869 | polymorphism | TN | TN | TN | TN | TN |
chr16:88713236|AG ENST00000261623 | polymorphism | FP | FP | FP | TN | FP |
chr1:150776679|CG ENST00000271651 | disease_causing | TP | TP | TP | TP | TP |
chr3:183963079|CT ENST00000445626 | disease_causing | TP | TP | TP | TP | TP |
chr19:13010285|CT ENST00000222214 | disease_causing | TP | TP | TP | TP | TP |
chr3:97983561|GC ENST00000383696 | polymorphism | TN | TN | TN | TN | TN |
chr9:131585069|AG ENST00000361256 | polymorphism | TN | TN | TN | TN | TN |
chr9:34649045|GA ENST00000378842 | disease_causing | FN | FN | FN | FN | TP |
chr7:30639612|AG ENST00000389266 | disease_causing | FN | TP | TP | TP | TP |
chr19:18497024|GC ENST00000252809 | polymorphism | TN | TN | TN | TN | TN |
chr8:2909992|GA ENST00000542608 | polymorphism | TN | TN | TN | TN | TN |
chr18:57134052|GA ENST00000439986 | disease_causing | FN | FN | TP | TP | TP |
chr19:18898411|CA ENST00000222271 | disease_causing | TP | TP | TP | TP | TP |
chr8:75272543|GA ENST00000220822 | disease_causing | TP | TP | FN | TP | TP |
chr2:203417496|CT ENST00000374580 | disease_causing | TP | TP | TP | TP | TP |
chr10:129902158|CT ENST00000368653 | polymorphism | FP | FP | TN | TN | TN |
chr9:34647137|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:6705874|GC ENST00000294401 | polymorphism | TN | TN | TN | TN | FP |
chr3:194062519|CT ENST00000429275 | polymorphism | TN | TN | TN | TN | TN |
chr11:614318|TC ENST00000397566 | polymorphism | TN | TN | TN | TN | TN |
chr6:25862466|CT ENST00000397060 | polymorphism | TN | TN | TN | TN | TN |
chr1:182496829|AG ENST00000294854 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647867|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:201047044|GC ENST00000367338 | disease_causing | TP | TP | TP | TP | TP |
chr13:20763503|TC ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr11:6239344|GA ENST00000449352 | polymorphism | TN | TN | TN | TN | TN |
chr1:183542387|TC ENST00000413720 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647875|AG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr9:137779026|CT ENST00000291744 | polymorphism | TN | FP | FP | FP | TN |
chr19:1074000|AT ENST00000539243 | polymorphism | TN | TN | TN | TN | TN |
chr2:85824251|TC ENST00000306368 | polymorphism | TN | TN | TN | TN | TN |
chr14:88862529|GA ENST00000556553 | polymorphism | TN | TN | TN | TN | TN |
chr11:119052826|CA ENST00000292199 | polymorphism | TN | TN | TN | TN | TN |
chr14:104381502|TC ENST00000557040 | polymorphism | TN | TN | TN | TN | TN |
chr20:62326110|AC ENST00000370003 | polymorphism | TN | TN | TN | TN | TN |
chr11:71155184|AC ENST00000407721 | disease_causing | TP | TP | TP | TP | TP |
chr9:32984797|TC ENST00000379825 | disease_causing | TP | TP | TP | TP | TP |
chr2:241815397|GC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr12:57870155|AC ENST00000430041 | polymorphism | TN | TN | TN | TN | TN |
chr12:6153534|TC ENST00000261405 | polymorphism | TN | TN | TN | TN | TN |
chr10:123276892|CT ENST00000358487 | disease_causing | TP | TP | TP | TP | TP |
chr17:41244435|TC ENST00000354071 | polymorphism | FP | FP | FP | FP | TN |
chr12:118509191|GA ENST00000359236 | polymorphism | TN | TN | TN | TN | TN |
chr10:116008497|GA ENST00000298715 | polymorphism | TN | TN | TN | TN | TN |
chr19:56549510|TC ENST00000390649 | polymorphism | TN | TN | TN | TN | TN |
chr18:55336665|AG ENST00000283684 | disease_causing | TP | TP | TP | TP | TP |
chr6:41903782|AC ENST00000372991 | polymorphism | TN | TN | TN | TN | TN |
chr2:241818138|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr19:54784130|TC ENST00000314446 | polymorphism | TN | TN | FP | TN | TN |
chr3:58118555|GA ENST00000358537 | polymorphism | TN | FP | TN | TN | FP |
chr3:49459656|CT ENST00000458307 | disease_causing | TP | TP | TP | TP | TP |
chr16:18525746|GA ENST00000543392 | polymorphism | FP | FP | FP | TN | FP |
chr1:53712727|CT ENST00000354412 | polymorphism | FP | FP | TN | TN | FP |
chr21:27264099|TC ENST00000346798 | disease_causing | TP | TP | FN | TP | TP |
chr1:207015957|TC ENST00000340758 | polymorphism | TN | TN | TN | TN | TN |
chr2:113832333|CA ENST00000341010 | polymorphism | TN | TN | TN | TN | TN |
chr17:7127184|GA ENST00000543245 | disease_causing | TP | TP | TP | TP | TP |
chr17:71232687|TC ENST00000268942 | polymorphism | TN | TN | FP | TN | TN |
chr10:91007360|TG ENST00000371829 | polymorphism | TN | TN | TN | TN | TN |
chr9:134020092|CT ENST00000451030 | polymorphism | TN | TN | FP | TN | TN |
chr1:76215125|TC ENST00000370841 | disease_causing | TP | TP | TP | TP | TP |
chr14:103390126|CT ENST00000299155 | disease_causing | TP | TP | FN | FN | FN |
chr14:55312526|CA ENST00000543643 | disease_causing | FN | FN | FN | FN | TP |
chr11:5842356|AG ENST00000317037 | polymorphism | FP | FP | FP | FP | FP |
chr3:138289221|CT ENST00000481834 | polymorphism | TN | TN | TN | TN | TN |
chr11:92573911|GT ENST00000298047 | polymorphism | TN | TN | TN | TN | TN |
chr1:94473283|AC ENST00000370225 | disease_causing | TP | TP | TP | TP | TP |
chr19:41930487|TA ENST00000269980 | disease_causing | TP | TP | TP | TP | TP |
chr1:35250784|AG ENST00000373366 | disease_causing | FN | FN | FN | FN | TP |
chr15:25926179|CT ENST00000356865 | polymorphism | TN | FP | TN | TN | TN |
chr1:207646898|TC ENST00000367057 | polymorphism | TN | TN | TN | TN | TN |
chr17:3324810|AG ENST00000291231 | polymorphism | TN | TN | TN | FP | TN |
chr19:13007754|TC ENST00000222214 | disease_causing | TP | TP | TP | TP | TP |
chr6:131904948|CG ENST00000368087 | disease_causing | FN | FN | FN | FN | FN |
chr6:121768574|AC ENST00000282561 | disease_causing | TP | TP | TP | TP | TP |
chr5:177034446|CA ENST0000029410 | disease_causing | TP | TP | TP | TP | TP |
chr12:71533534|CG ENST00000247829 | polymorphism | FP | FP | FP | FP | FP |
chr5:180338368|AG ENST00000508408 | polymorphism | TN | TN | TN | TN | TN |
chr1:2444414|GA ENST00000435556 | polymorphism | TN | FP | FP | FP | TN |
chr11:28134974|CA ENST00000342303 | polymorphism | TN | TN | TN | TN | TN |
chr11:116707108|AG ENST00000375320 | disease_causing | TP | TP | TP | TP | FN |
chr12:89745477|CA ENST00000308385 | polymorphism | TN | TN | TN | TN | FP |
chr17:7125591|TC ENST00000543245 | disease_causing | FN | FN | TP | TP | TP |
chr12:50348446|CT ENST00000199280 | disease_causing | TP | TP | TP | TP | TP |
chr13:43462422|AT ENST00000313640 | polymorphism | FP | FP | TN | FP | TN |
chr11:11986061|TC ENST00000525493 | polymorphism | TN | TN | TN | TN | TN |
chr9:34649018|CG ENST00000378842 | disease_causing | FN | FN | FN | TP | TP |
chr2:108488742|GT ENST00000408999 | polymorphism | FP | FP | TN | TN | TN |
chr6:80626375|TC ENST00000369816 | polymorphism | TN | TN | TN | TN | TN |
chr16:84906098|CG ENST00000262424 | polymorphism | TN | TN | TN | TN | FP |
chr11:108013272|TC ENST00000265838 | disease_causing | TP | TP | TP | TP | TP |
chr1:21940555|CT ENST00000374765 | polymorphism | TN | TN | TN | TN | TN |
chr19:45411100|CT ENST00000252486 | disease_causing | FN | TP | FN | TP | TP |
chr2:136393658|AG ENST00000329971 | polymorphism | TN | TN | TN | TN | TN |
chr6:7542236|GA ENST00000379802 | disease_causing | FN | FN | FN | FN | FN |
chr18:48333203|CG ENST00000436348 | polymorphism | TN | FP | TN | FP | TN |
chr9:34649491|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr3:128204951|CT ENST00000341105 | polymorphism | TN | TN | TN | TN | TN |
chr5:169028481|TC ENST00000265295 | polymorphism | TN | TN | TN | TN | TN |
chr11:17483278|AG ENST00000389817 | disease_causing | FN | TP | FN | FN | TP |
chr17:48274414|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr18:12353027|TG ENST00000269143 | disease_causing | TP | TP | TP | TP | TP |
chr14:39722023|GC ENST00000280082 | polymorphism | TN | TN | TN | FP | TN |
chr1:1686040|GT ENST00000378625 | polymorphism | TN | TN | TN | TN | TN |
chr9:107560785|GA ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr2:48809593|GT ENST00000309835 | polymorphism | TN | TN | TN | TN | TN |
chr17:4720469|CT ENST00000572940 | polymorphism | TN | TN | TN | TN | TN |
chr19:54724458|AG ENST00000424807 | polymorphism | TN | TN | TN | TN | TN |
chr4:47514685|CT ENST00000504445 | polymorphism | TN | FP | TN | TN | TN |
chr12:50348100|GA ENST00000199280 | disease_causing | TP | TP | TP | TP | TP |
chr16:16248867|CT ENST00000205557 | disease_causing | TP | TP | TP | TP | TP |
chr1:59125683|CT ENST00000472487 | polymorphism | TN | TN | TN | FP | TN |
chr14:100847707|AG ENST00000335290 | polymorphism | TN | TN | TN | TN | TN |
chr21:27264165|CT ENST00000346798 | disease_causing | TP | TP | FN | FN | TP |
chr11:76954812|TC ENST00000315938 | polymorphism | TN | TN | TN | TN | TN |
chr3:151090424|GA ENST00000474524 | polymorphism | TN | TN | TN | TN | TN |
chr2:38298203|CG ENST00000260630 | polymorphism | TN | TN | TN | TN | TN |
chr4:80905990|CG ENST00000307333 | polymorphism | TN | TN | TN | TN | TN |
chr7:87069077|GT ENST00000359206 | disease_causing | TP | TP | TP | TP | TP |
chr7:140453987|TC ENST00000288602 | disease_causing | TP | TP | TP | TP | TP |
chr9:107584801|TC ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr11:116703580|AG ENST00000227667 | disease_causing | FN | FN | FN | FN | FN |
chr11:6519642|GA ENST00000527990 | polymorphism | TN | TN | TN | TN | TN |
chr14:51079996|GA ENST00000441560 | disease_causing | TP | TP | TP | TP | TP |
chr11:69625327|AG ENST00000334134 | disease_causing | TP | TP | TP | TP | TP |
chr22:40761004|TC ENST00000216194 | disease_causing | FN | FN | FN | FN | FN |
chr9:34648145|TG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr3:183859845|TC ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr14:39777676|GC ENST00000280083 | polymorphism | TN | TN | TN | TN | TN |
chr19:1009485|CG ENST00000234389 | polymorphism | TN | TN | TN | TN | TN |
chr17:66985992|TG ENST00000340001 | polymorphism | FP | FP | FP | FP | FP |
chr12:121175742|CT ENST00000242592 | disease_causing | TP | TP | TP | TP | TP |
chr2:175618961|CT ENST00000348749 | disease_causing | TP | TP | FN | FN | TP |
chr9:111881856|TC ENST00000374586 | polymorphism | TN | TN | TN | TN | FP |
chr4:9250422|TC ENST00000504209 | polymorphism | FP | FP | TN | TN | TN |
chr12:76742038|CG ENST00000393262 | disease_causing | TP | TP | FN | FN | FN |
chr4:54011526|AG ENST00000401642 | polymorphism | FP | FP | TN | TN | FP |
chr17:39883672|GA ENST00000310778 | polymorphism | TN | TN | TN | FP | TN |
chr20:31671599|AG ENST00000375483 | polymorphism | TN | TN | TN | FP | TN |
chr9:133364809|AC ENST00000352480 | disease_causing | TP | TP | TP | TP | TP |
chr2:160132089|TG ENST00000358147 | polymorphism | FP | FP | FP | FP | TN |
chr16:75512900|AG ENST00000332272 | disease_causing | TP | TP | TP | TP | TP |
chr20:3063670|CT ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr19:41383217|TC ENST00000301146 | polymorphism | TN | TN | TN | TN | TN |
chr3:118621664|CA ENST00000354673 | polymorphism | TN | TN | TN | TN | TN |
chr5:125896786|TA ENST00000409134 | disease_causing | TP | TP | TP | TP | TP |
chr11:88027279|CG ENST00000227266 | disease_causing | TP | TP | TP | TP | TP |
chr9:136298598|GA ENST00000371929 | disease_causing | TP | TP | TP | TP | TP |
chr14:95562509|AC ENST00000343455 | disease_causing | TP | TP | TP | TP | TP |
chr2:170053505|CT ENST00000263816 | polymorphism | TN | TN | TN | TN | TN |
chr3:186572092|CT ENST00000320741 | disease_causing | TP | TP | TP | TP | TP |
chr11:5344902|CG ENST00000328813 | polymorphism | TN | TN | TN | TN | TN |
chr22:50480108|CT ENST00000266182 | polymorphism | TN | TN | TN | TN | TN |
chr4:5743512|TC ENST00000509451 | polymorphism | TN | TN | TN | TN | TN |
chr8:27903069|CT ENST00000341513 | polymorphism | TN | TN | TN | TN | TN |
chr11:108216531|TG ENST00000452508 | disease_causing | TP | TP | TP | TP | TP |
chr12:52309964|TA ENST00000388922 | disease_causing | TP | TP | TP | TP | TP |
chr4:1803571|CG ENST00000481110 | disease_causing | TP | TP | TP | TP | TP |
chr9:32974542|AC ENST00000379825 | disease_causing | TP | TP | TP | TP | TP |
chr8:70980738|TC ENST00000276594 | polymorphism | TN | TN | TN | TN | TN |
chr1:55340807|CT ENST00000371269 | disease_causing | TP | TP | TP | TP | TP |
chr17:7125522|CT ENST00000543245 | disease_causing | TP | TP | TP | TP | TP |
chr8:97157401|TA ENST00000287020 | disease_causing | FN | FN | FN | FN | FN |
chr11:58170143|CG ENST00000309403 | polymorphism | TN | TN | TN | FP | TN |
chr6:116441268|AG ENST00000327673 | disease_causing | TP | TP | FN | TP | TP |
chr13:20797357|GA ENST00000241124 | disease_causing | TP | TP | TP | TP | TP |
chr20:3063425|AC ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr14:55369120|GA ENST00000543643 | disease_causing | TP | TP | TP | TP | TP |
chr18:12337444|CT ENST00000269143 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647202|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr3:15686975|CT ENST00000449107 | disease_causing | TP | TP | TP | TP | TP |
chr4:69078113|TC ENST00000432593 | polymorphism | TN | FP | FP | TN | TN |
chr2:179318297|CT ENST00000409117 | disease_causing | TP | TP | FN | FN | TP |
chr20:43254234|GT ENST00000372874 | disease_causing | TP | TP | FN | TP | TP |
chr9:34648763|GA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr14:64908845|GA ENST00000216605 | polymorphism | TN | TN | TN | TN | FP |
chr6:31237162|CG ENST00000396254 | polymorphism | TN | TN | TN | TN | TN |
chr1:160100073|GA ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr15:42032383|CG ENST00000570161 | polymorphism | TN | TN | FP | FP | FP |
chr2:175614763|CT ENST00000348749 | disease_causing | TP | TP | FN | TP | TP |
chr19:49377242|GC ENST00000200453 | polymorphism | TN | TN | TN | TN | TN |
chr11:44297022|CT ENST00000329255 | disease_causing | TP | TP | TP | TP | TP |
chr4:89668859|CT ENST00000264344 | polymorphism | TN | TN | TN | TN | TN |
chr11:116707077|AC ENST00000375320 | disease_causing | TP | TP | TP | TP | FN |
chr10:103534528|TC ENST00000344255 | disease_causing | FN | FN | FN | TP | TP |
chr3:45779136|AT ENST00000541314 | polymorphism | TN | TN | TN | TN | FP |
chr4:80905069|TC ENST00000403729 | disease_causing | TP | TP | TP | FN | TP |
chr1:35250619|TA ENST00000373366 | disease_causing | TP | TP | TP | FN | TP |
chr19:55176262|AG ENST00000391734 | polymorphism | TN | TN | TN | TN | TN |
chr19:35648365|TG ENST00000342879 | polymorphism | TN | TN | TN | TN | TN |
chr9:136307625|CT ENST00000371929 | disease_causing | TP | TP | TP | TP | FN |
chr8:32453358|GA ENST00000287840 | polymorphism | TN | TN | TN | FP | TN |
chr3:58067395|GA ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr12:50348430|CG ENST00000199280 | disease_causing | TP | TP | TP | TP | TP |
chr3:75790880|AG ENST00000477374 | polymorphism | FP | FP | FP | FP | TN |
chr2:71036482|TC ENST00000272367 | polymorphism | TN | TN | TN | TN | TN |
chr11:61725631|CT ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr21:35821821|TC ENST00000416357 | polymorphism | TN | TN | TN | TN | TN |
chr20:43933021|GT ENST00000342716 | polymorphism | TN | TN | TN | TN | TN |
chr6:64694354|CT ENST00000370616 | polymorphism | TN | TN | TN | TN | TN |
chr11:86663485|TC ENST00000531380 | disease_causing | TP | TP | FN | FN | TP |
chr14:77843384|GT ENST00000216468 | polymorphism | TN | TN | TN | TN | TN |
chr1:155206086|GC ENST00000368373 | disease_causing | TP | TP | FN | FN | TP |
chr16:28913549|CT ENST00000357084 | disease_causing | TP | TP | TP | TP | TP |
chr17:74076415|GA ENST00000334586 | polymorphism | TN | TN | TN | TN | TN |
chr19:49253814|AC ENST00000310160 | disease_causing | TP | TP | TP | TP | TP |
chr3:47282303|GA ENST00000444589 | polymorphism | FP | FP | FP | FP | TN |
chr9:135173685|TC ENST00000393220 | polymorphism | TN | TN | TN | TN | TN |
chr3:167184878|TC ENST00000471111 | polymorphism | TN | FP | FP | TN | TN |
chr12:121174852|GT ENST00000242592 | disease_causing | TP | TP | TP | TP | TP |
chr6:29910716|CG ENST00000376806 | polymorphism | TN | TN | TN | TN | TN |
chr7:94047108|GT ENST00000297268 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647501|TG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr22:40745980|CG ENST00000216194 | disease_causing | FN | TP | TP | TP | TP |
chr19:52249947|CG ENST00000304748 | polymorphism | TN | TN | TN | TN | TN |
chr11:100226883|TA ENST00000524871 | polymorphism | TN | TN | TN | TN | TN |
chr17:7127359|CT ENST00000543245 | disease_causing | TP | TP | TP | TP | TP |
chr12:4479729|CT ENST00000237837 | disease_causing | TP | TP | FN | FN | TP |
chr1:152286002|TC ENST00000368799 | polymorphism | TN | TN | TN | TN | TN |
chr1:228345727|CT ENST00000366714 | disease_causing | TP | TP | TP | TP | TP |
chr11:58125620|TC ENST00000357377 | polymorphism | TN | TN | TN | TN | TN |
chr13:20763452|AG ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr19:54782724|GA ENST00000314446 | polymorphism | TN | TN | FP | TN | TN |
chr3:183853220|CA ENST00000273783 | disease_causing | FN | FN | FN | TP | FN |
chr17:48264411|CA ENST00000225964 | disease_causing | FN | FN | TP | TP | TP |
chr7:65554101|AG ENST00000304874 | disease_causing | FN | TP | TP | TP | TP |
chr7:12419108|AT ENST00000275358 | polymorphism | TN | TN | TN | TN | TN |
chr16:16248831|GA ENST00000205557 | disease_causing | TP | TP | TP | TP | TP |
chr12:53670545|CA ENST00000257934 | polymorphism | FP | FP | TN | TN | TN |
chr19:18679379|CG ENST00000539106 | polymorphism | TN | TN | TN | TN | TN |
chr14:21161887|GA ENST00000336811 | disease_causing | FN | FN | FN | FN | FN |
chr1:226019633|TC ENST00000366837 | polymorphism | FP | FP | FP | FP | FP |
chr1:55464887|GA ENST00000371265 | disease_causing | TP | TP | TP | TP | TP |
chr11:62469965|GA ENST00000405837 | disease_causing | TP | TP | TP | TP | TP |
chr11:103060490|GT ENST00000375735 | disease_causing | FN | FN | TP | FN | TP |
chr4:80975496|AG ENST00000403729 | disease_causing | TP | TP | TP | TP | TP |
chr9:34649503|AG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr2:99812070|GA ENST00000338148 | polymorphism | TN | TN | TN | TN | TN |
chr1:155206217|GA ENST00000368373 | disease_causing | TP | TP | TP | TP | TP |
chr19:41928609|CG ENST00000269980 | disease_causing | TP | TP | TP | TP | TP |
chr6:131894454|TC ENST00000368087 | disease_causing | TP | TP | TP | TP | TP |
chr11:5373114|GA ENST00000380219 | polymorphism | TN | TN | TN | TN | TN |
chr15:86123833|TC ENST00000361243 | polymorphism | TN | TN | TN | TN | TN |
chr11:116707769|CG ENST00000375320 | disease_causing | TP | TP | TP | TP | TP |
chr1:16389026|TC ENST00000375662 | polymorphism | FP | FP | TN | FP | TN |
chr6:116441481|AG ENST00000327673 | disease_causing | TP | TP | FN | FN | TP |
chr9:101748356|AG ENST00000375001 | polymorphism | TN | TN | TN | TN | TN |
chr9:71668156|GT ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr12:52306971|GT ENST00000388922 | disease_causing | TP | TP | TP | TP | TP |
chr9:133327655|GA ENST00000352480 | disease_causing | TP | TP | TP | TP | TP |
chr19:37310344|TC ENST00000356725 | polymorphism | TN | TN | FP | FP | TN |
chr8:1830835|CT ENST00000349830 | disease_causing | TP | TP | TP | TP | TP |
chr9:107576435|CT ENST00000374736 | disease_causing | FN | TP | FN | FN | TP |
chr5:179201847|GA ENST00000292599 | polymorphism | TN | TN | TN | TN | TN |
chr1:15438990|GA ENST00000376030 | polymorphism | TN | TN | TN | TN | TN |
chr1:248084825|CT ENST00000319968 | polymorphism | FP | FP | TN | FP | TN |
chr19:44890801|TC ENST00000544719 | polymorphism | TN | TN | TN | TN | TN |
chr8:22021517|GA ENST00000521315 | polymorphism | TN | TN | TN | TN | TN |
chr14:21770730|AG ENST00000206660 | polymorphism | TN | TN | TN | TN | TN |
chr3:195514403|CT ENST00000463781 | polymorphism | TN | TN | TN | TN | TN |
chr6:116446603|CT ENST00000327673 | disease_causing | FN | FN | FN | TP | TP |
chr11:134131194|CA ENST00000281182 | disease_causing | FN | FN | FN | FN | TP |
chr19:55179364|AG ENST00000430952 | polymorphism | FP | FP | TN | TN | TN |
chr19:54725798|GT ENST00000391750 | polymorphism | TN | TN | FP | TN | TN |
chr6:29911970|GA ENST00000396634 | polymorphism | TN | TN | FP | TN | TN |
chr10:103534925|AG ENST00000344255 | disease_causing | FN | FN | FN | FN | FN |
chr11:68548205|TC ENST00000540367 | disease_causing | TP | TP | TP | TP | TP |
chr12:110719662|GA ENST00000308664 | disease_causing | TP | TP | TP | TP | TP |
chr2:231042276|AG ENST00000338556 | polymorphism | TN | TN | TN | TN | TN |
chr7:99971834|AG ENST00000350573 | polymorphism | TN | TN | TN | TN | TN |
chr11:34378381|GC ENST00000298992 | polymorphism | TN | TN | TN | TN | TN |
chr18:11886563|CG ENST00000588072 | polymorphism | TN | TN | TN | TN | TN |
chr4:3494600|AG ENST00000389653 | polymorphism | TN | TN | TN | TN | TN |
chr18:43310415|GA ENST00000436407 | polymorphism | TN | FP | FP | FP | FP |
chr15:43018588|GA ENST00000356231 | disease_causing | TP | TP | TP | TP | TP |
chr1:227172611|AG ENST00000366779 | disease_causing | TP | TP | TP | TP | TP |
chr11:74883577|GA ENST00000454962 | polymorphism | TN | TN | TN | TN | TN |
chr17:3402294|AC ENST00000456349 | disease_causing | TP | TP | TP | TP | TP |
chr19:13008632|GA ENST00000222214 | disease_causing | TP | TP | FN | TP | TP |
chr3:186338382|GC ENST00000273784 | polymorphism | TN | TN | TN | TN | TN |
chr2:241812418|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr16:89350038|GA ENST00000378330 | polymorphism | TN | TN | TN | TN | TN |
chr19:54726299|AC ENST00000424807 | polymorphism | TN | TN | TN | TN | TN |
chr7:44187429|GA ENST00000403799 | disease_causing | TP | TP | TP | TP | TP |
chr13:20763686|CA ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr7:30668214|GC ENST00000389266 | disease_causing | TP | TP | TP | TP | TP |
chr3:184550501|AG ENST00000437079 | polymorphism | TN | TN | TN | TN | TN |
chr6:7584591|CT ENST00000379802 | disease_causing | TP | TP | TP | TP | TP |
chr2:31410653|CT ENST00000444918 | polymorphism | TN | TN | TN | TN | TN |
chr19:43382368|TG ENST00000312439 | polymorphism | TN | TN | TN | TN | TN |
chr5:68695940|TG ENST00000509734 | polymorphism | FP | FP | FP | FP | FP |
chr1:76215194|GA ENST00000370841 | disease_causing | TP | TP | TP | TP | TP |
chr3:81698027|AG ENST00000429644 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647837|TC ENST00000378842 | disease_causing | FN | FN | TP | TP | TP |
chr15:45694983|GC ENST00000305560 | polymorphism | TN | TN | TN | TN | TN |
chr10:45953767|AG ENST00000395771 | polymorphism | TN | TN | TN | TN | TN |
chr19:7747293|TG ENST00000317378 | polymorphism | TN | TN | TN | TN | TN |
chr1:26357656|CA ENST00000374280 | polymorphism | TN | TN | TN | TN | TN |
chr15:59323048|CG ENST00000348370 | polymorphism | TN | TN | TN | TN | TN |
chr2:241812455|TG ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr12:110765530|GT ENST00000308664 | disease_causing | TP | TP | TP | TP | TP |
chr3:89521693|TC ENST00000336596 | polymorphism | TN | TN | TN | TN | TN |
chr3:58116537|TG ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr15:62202482|CT ENST00000249837 | polymorphism | TN | TN | TN | TN | TN |
chr5:168180081|CT ENST00000519560 | polymorphism | TN | TN | TN | TN | TN |
chr16:16248810|CT ENST00000205557 | disease_causing | TP | TP | TP | TP | TP |
chr19:53075519|GT ENST00000540331 | polymorphism | TN | FP | TN | TN | TN |
chr9:133346264|GA ENST00000352480 | disease_causing | TP | TP | TP | TP | TP |
chr11:68552367|TC ENST00000540367 | disease_causing | TP | TP | TP | TP | TP |
chr19:14910654|TC ENST00000248073 | polymorphism | TN | TN | FP | FP | TN |
chr7:44187322|CT ENST00000395796 | disease_causing | FN | TP | TP | TP | TP |
chr4:113352397|GA ENST00000458497 | polymorphism | TN | FP | TN | FP | TN |
chr14:94844843|TG ENST00000393087 | polymorphism | TN | TN | TN | TN | TN |
chr3:113955164|TG ENST00000482457 | polymorphism | TN | TN | TN | TN | TN |
chr17:2266799|GA ENST00000426855 | polymorphism | TN | TN | TN | TN | FP |
chr19:41928167|GA ENST00000269980 | disease_causing | TP | TP | FN | TP | TP |
chr10:115393929|GA ENST00000359988 | polymorphism | TN | TN | FP | TN | TN |
chr10:55955444|TG ENST00000373957 | polymorphism | FP | FP | FP | FP | FP |
chr10:123996976|GA ENST00000334433 | polymorphism | TN | TN | TN | TN | TN |
chr3:88189341|TC ENST00000309495 | polymorphism | TN | TN | TN | TN | TN |
chr11:61723221|GC ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr2:175614855|GA ENST00000348749 | disease_causing | FN | FN | TP | TP | TP |
chr10:116659253|AG ENST00000369250 | polymorphism | TN | TN | TN | TN | TN |
chr8:17922010|TA ENST00000262097 | disease_causing | TP | TP | TP | TP | TP |
chr3:58095354|GC ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr11:88070725|CG ENST00000227266 | disease_causing | TP | TP | TP | TP | TP |
chr6:32363816|TC ENST00000374993 | polymorphism | TN | TN | TN | TN | TN |
chr11:61723297|GC ENST00000378043 | disease_causing | TP | TP | TP | FN | TP |
chr11:17452434|GC ENST00000389817 | disease_causing | TP | TP | FN | TP | TP |
chr12:31256546|GA ENST00000545668 | polymorphism | TN | TN | TN | TN | TN |
chr2:202939654|TC ENST00000541917 | polymorphism | TN | TN | TN | TN | TN |
chr7:53103371|GT ENST00000408890 | polymorphism | FP | FP | TN | TN | TN |
chr4:123663912|GC ENST00000314218 | disease_causing | TP | TP | TP | TP | TP |
chr9:71687589|CT ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr19:43680051|CT ENST00000407356 | polymorphism | TN | TN | FP | TN | TN |
chr10:101483814|GA ENST00000370483 | disease_causing | TP | TP | TP | TP | TP |
chr8:97172796|CA ENST00000287020 | disease_causing | FN | TP | TP | TP | TP |
chr11:118529703|GA ENST00000397925 | polymorphism | FP | FP | TN | TN | TN |
chr5:72419617|CA ENST00000287773 | polymorphism | TN | TN | TN | TN | TN |
chr10:50013402|TC ENST00000325239 | polymorphism | TN | TN | TN | TN | TN |
chr3:33879770|GA ENST00000307296 | polymorphism | TN | TN | TN | TN | FP |
chr3:52021009|CT ENST00000476854 | disease_causing | TP | TP | TP | FN | FN |
chr2:202072837|CT ENST00000286186 | disease_causing | FN | FN | FN | FN | FN |
chr16:88713169|TC ENST00000261623 | disease_causing | TP | TP | TP | TP | TP |
chr3:122002647|CG ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr12:52845801|TC ENST00000252252 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648157|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:159002389|TA ENST00000368132 | polymorphism | TN | TN | TN | TN | TN |
chr13:101287340|CT ENST00000328767 | polymorphism | TN | TN | TN | TN | TN |
chr9:127818276|CT ENST00000336505 | polymorphism | TN | TN | TN | TN | TN |
chr21:27264167|TC ENST00000346798 | disease_causing | TP | TP | TP | TP | TP |
chr3:197659160|CG ENST00000455191 | polymorphism | FP | FP | FP | FP | FP |
chr17:7357660|GA ENST00000306071 | disease_causing | TP | TP | TP | TP | TP |
chr2:166618438|GT ENST00000392701 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647845|CT ENST00000378842 | disease_causing | FN | TP | TP | TP | TP |
chr3:130134492|TC ENST00000432398 | polymorphism | TN | TN | TN | TN | TN |
chr15:78369972|GC ENST00000409931 | polymorphism | TN | TN | TN | TN | TN |
chr17:48263747|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr12:121615103|GA ENST00000535250 | polymorphism | TN | TN | TN | TN | TN |
chr10:101595882|GA ENST00000370449 | disease_causing | TP | TP | TP | TP | TP |
chr22:36900806|AG ENST00000397223 | polymorphism | TN | TN | TN | TN | TN |
chr8:97157293|AG ENST00000287020 | disease_causing | TP | TP | TP | TP | TP |
chr17:48267228|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr11:433867|GA ENST00000332826 | polymorphism | TN | TN | TN | TN | TN |
chr5:89979589|GA ENST00000405460 | polymorphism | TN | TN | TN | TN | TN |
chr13:52532674|CT ENST00000242839 | disease_causing | TP | TP | TP | TP | TP |
chr12:6887020|TC ENST00000203629 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647094|CA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr6:47646842|AG ENST00000398742 | polymorphism | TN | TN | TN | TN | TN |
chr2:207603234|TG ENST00000454776 | polymorphism | TN | TN | TN | TN | TN |
chr5:80168937|GA ENST00000265081 | polymorphism | TN | TN | TN | TN | TN |
chr10:123276934|TC ENST00000358487 | disease_causing | TP | TP | TP | TP | TP |
chr7:138740037|GC ENST00000242351 | polymorphism | TN | TN | TN | TN | TN |
chr3:41996136|TC ENST00000301831 | polymorphism | TN | TN | TN | TN | FP |
chr18:34664093|AG ENST00000435985 | polymorphism | TN | TN | TN | TN | TN |
chr2:74174015|GA ENST00000264093 | disease_causing | TP | TP | TP | TP | TP |
chr21:47836547|TC ENST00000359568 | polymorphism | TN | TN | TN | TN | TN |
chr17:48267388|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr7:12400837|GA ENST00000275358 | polymorphism | TN | TN | TN | TN | TN |
chr3:58121869|GA ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr3:75786748|CT ENST00000422325 | polymorphism | TN | TN | TN | TN | TN |
chr19:14991963|CA ENST00000327462 | polymorphism | TN | TN | TN | TN | TN |
chr7:25207974|TC ENST00000283905 | polymorphism | TN | TN | TN | TN | TN |
chr17:33286664|AG ENST00000421975 | polymorphism | FP | FP | FP | FP | FP |
chr5:178391902|AC ENST00000320129 | polymorphism | TN | TN | TN | TN | TN |
chr2:238449007|TC ENST00000264605 | polymorphism | TN | TN | TN | TN | TN |
chr7:137776568|CT ENST00000432161 | disease_causing | TP | TP | TP | TP | TP |
chr15:62259637|CT ENST00000249837 | polymorphism | TN | TN | TN | TN | TN |
chr19:41255500|CG ENST00000378313 | polymorphism | TN | TN | TN | TN | TN |
chr14:103342049|TC ENST00000392745 | polymorphism | TN | TN | TN | TN | TN |
chr17:48274388|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr20:43251695|GA ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr10:124330427|CT ENST00000359586 | polymorphism | TN | TN | TN | TN | TN |
chr7:140476806|CG ENST00000288602 | disease_causing | TP | TP | TP | TP | TP |
chr17:19566648|CT ENST00000176643 | disease_causing | TP | TP | TP | TP | TP |
chr3:98304466|GA ENST00000264193 | disease_causing | TP | TP | TP | TP | TP |
chr12:50349360|CT ENST00000199280 | disease_causing | FN | TP | FN | FN | TP |
chr12:128899673|AG ENST00000435159 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648361|GA ENST00000378842 | disease_causing | FN | TP | FN | TP | TP |
chr10:21414892|CG ENST00000534331 | polymorphism | TN | TN | FP | TN | TN |
chr6:32629755|GA ENST00000374943 | polymorphism | TN | TN | FP | TN | TN |
chr2:74605195|CT ENST00000361874 | disease_causing | TP | TP | TP | TP | TP |
chr19:37117302|AG ENST00000435416 | polymorphism | TN | TN | TN | TN | TN |
chr2:233394841|CA ENST00000258385 | disease_causing | TP | TP | TP | TP | TP |
chr2:175614810|CA ENST00000348749 | disease_causing | TP | TP | FN | FN | TP |
chr1:160098557|CA ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr3:43602803|CT ENST00000451430 | polymorphism | TN | TN | TN | TN | TN |
chr9:130242166|AG ENST00000300417 | polymorphism | TN | TN | TN | TN | TN |
chr19:855574|CT ENST00000590230 | disease_causing | FN | FN | FN | FN | FN |
chr6:36270130|CA ENST00000394571 | polymorphism | TN | TN | TN | TN | TN |
chr17:65988049|TC ENST00000449250 | polymorphism | TN | TN | TN | TN | TN |
chr9:133370370|CT ENST00000352480 | disease_causing | FN | TP | TP | TP | TP |
chr1:196712682|GT ENST00000367429 | disease_causing | FN | FN | FN | FN | FN |
chr10:89118125|CT ENST00000381697 | polymorphism | FP | FP | TN | TN | TN |
chr6:74125888|AG ENST00000370336 | polymorphism | TN | TN | TN | TN | TN |
chr6:150346532|TC ENST00000367341 | polymorphism | TN | TN | TN | TN | TN |
chr10:118364967|GC ENST00000534537 | polymorphism | TN | TN | TN | TN | TN |
chr14:102901201|AG ENST00000558678 | polymorphism | TN | TN | TN | TN | TN |
chr17:39023396|GA ENST00000251643 | polymorphism | TN | TN | TN | TN | TN |
chr10:73767709|TC ENST00000373115 | disease_causing | TP | TP | TP | TP | TP |
chr2:233655527|AG ENST00000373563 | disease_causing | FN | FN | FN | FN | FN |
chr5:89979691|AG ENST00000405460 | polymorphism | TN | TN | TN | TN | TN |
chr11:108017059|GT ENST00000265838 | disease_causing | TP | TP | TP | TP | TP |
chr12:68708761|CT ENST00000303145 | polymorphism | TN | TN | TN | TN | TN |
chr6:29634003|GC ENST00000494692 | polymorphism | TN | TN | TN | TN | TN |
chr7:100466441|GA ENST00000200457 | polymorphism | TN | TN | TN | TN | TN |
chr2:178326676|CT ENST00000264167 | disease_causing | FN | FN | TP | TP | TP |
chr11:68548115|AG ENST00000540367 | disease_causing | TP | TP | TP | TP | TP |
chr14:51202311|GC ENST00000382043 | polymorphism | TN | TN | TN | TN | TN |
chr12:6562293|CT ENST00000266556 | polymorphism | TN | TN | TN | TN | TN |
chr6:31116246|GA ENST00000396268 | polymorphism | TN | TN | TN | TN | TN |
chr1:54661150|CT ENST00000542737 | polymorphism | TN | TN | TN | TN | TN |
chr10:88659587|TC ENST00000372037 | disease_causing | TP | TP | TP | TP | TP |
chr6:154360797|AG ENST00000419506 | polymorphism | FP | FP | TN | FP | FP |
chr22:42526694|GA ENST00000359033 | polymorphism | FP | FP | FP | FP | FP |
chr17:1636934|AG ENST00000545662 | polymorphism | TN | TN | TN | TN | TN |
chr14:95884323|GA ENST00000334258 | polymorphism | TN | TN | TN | TN | TN |
chr6:121768420|GA ENST00000282561 | disease_causing | TP | TP | TP | TP | TP |
chr6:31129616|AG ENST00000376255 | polymorphism | TN | TN | TN | TN | TN |
chr1:16451799|CA ENST00000358432 | disease_causing | TP | TP | TP | TP | TP |
chr13:20763186|CT ENST00000382848 | disease_causing | TP | TP | TP | FN | TP |
chr13:39358840|GA ENST00000280481 | disease_causing | TP | TP | TP | TP | TP |
chr3:52740182|CG ENST00000233025 | polymorphism | TN | TN | TN | TN | TN |
chr3:97983981|GA ENST00000383696 | polymorphism | TN | TN | FP | TN | TN |
chr12:10137557|AC ENST00000304361 | polymorphism | TN | TN | TN | TN | TN |
chr2:132288362|TC ENST00000295171 | polymorphism | TN | TN | TN | TN | TN |
chr6:32632608|CG ENST00000399084 | polymorphism | TN | TN | TN | TN | TN |
chr16:31926619|GA ENST00000300870 | polymorphism | TN | TN | TN | TN | TN |
chr21:47836395|TG ENST00000359568 | polymorphism | TN | TN | TN | TN | TN |
chr5:149546828|CG ENST00000231656 | polymorphism | TN | TN | TN | TN | TN |
chr19:36004171|CA ENST00000447113 | polymorphism | TN | TN | TN | TN | TN |
chr3:8955389|CT ENST00000264926 | polymorphism | TN | TN | TN | TN | TN |
chr16:89866043|TC ENST00000534992 | polymorphism | TN | TN | TN | TN | TN |
chr3:121414061|CT ENST00000393667 | polymorphism | TN | TN | TN | TN | TN |
chr4:39064162|AC ENST00000359687 | polymorphism | TN | TN | TN | TN | TN |
chr21:27264105|TC ENST00000346798 | disease_causing | TP | TP | TP | FN | TP |
chr17:48265980|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr11:60531346|TG ENST00000528170 | polymorphism | FP | FP | TN | TN | TN |
chr17:33884804|TC ENST00000415846 | polymorphism | TN | FP | TN | FP | TN |
chr15:48780390|CT ENST00000316623 | disease_causing | TP | TP | TP | TP | TP |
chr4:128807219|TA ENST00000507249 | polymorphism | TN | TN | TN | TN | TN |
chr11:6550309|GA ENST00000254579 | polymorphism | TN | TN | TN | TN | TN |
chr3:148459667|CT ENST00000497524 | disease_causing | TP | TP | TP | TP | TP |
chr10:103531285|GC ENST00000344255 | disease_causing | TP | TP | TP | TP | TP |
chr3:98307627|GC ENST00000264193 | disease_causing | TP | TP | TP | TP | TP |
chr17:39140417|TC ENST00000377755 | polymorphism | TN | TN | TN | TN | TN |
chr11:103091449|AG ENST00000375735 | disease_causing | TP | TP | TP | TP | TP |
chr19:856000|GA ENST00000590230 | disease_causing | TP | TP | TP | TP | TP |
chr5:44388545|TG ENST00000264664 | disease_causing | TP | TP | TP | TP | TP |
chr7:881668|CT ENST00000457378 | polymorphism | TN | FP | TN | TN | FP |
chr2:21229160|CT ENST00000233242 | disease_causing | TP | TP | TP | TP | TP |
chr10:123279677|GC ENST00000358487 | disease_causing | TP | TP | TP | TP | TP |
chr19:6312290|TC ENST00000301452 | polymorphism | TN | TN | TN | TN | FP |
chr17:3480447|TC ENST00000399759 | polymorphism | TN | TN | TN | TN | TN |
chr5:140626627|GA ENST00000231173 | polymorphism | TN | TN | TN | TN | TN |
chr2:152311570|GA ENST00000243326 | polymorphism | TN | TN | TN | TN | TN |
chr17:39137387|CT ENST00000398486 | polymorphism | TN | TN | FP | FP | TN |
chr13:20763498|GA ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr20:7963041|CT ENST00000246024 | polymorphism | TN | TN | TN | TN | TN |
chr15:65494212|AG ENST00000261883 | polymorphism | TN | TN | TN | TN | FP |
chr14:55310741|CG ENST00000491895 | disease_causing | FN | FN | FN | TP | TP |
chr13:25831888|TC ENST00000540661 | polymorphism | TN | TN | TN | TN | FP |
chr2:49190326|AG ENST00000406846 | disease_causing | TP | TP | TP | TP | TP |
chr9:34649536|CA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr17:38938591|CG ENST00000301656 | polymorphism | TN | TN | TN | TN | TN |
chr5:140183058|GA ENST00000532566 | polymorphism | TN | TN | FP | FP | TN |
chr4:154514965|TC ENST00000409959 | polymorphism | TN | TN | TN | TN | TN |
chr16:67397580|GC ENST00000435835 | polymorphism | TN | TN | TN | TN | TN |
chr6:49403282|TC ENST00000274813 | polymorphism | TN | TN | TN | TN | TN |
chr4:114288920|CA ENST00000506722 | disease_causing | FN | TP | FN | TP | FN |
chr9:97087707|TC ENST00000341207 | polymorphism | TN | TN | TN | TN | TN |
chr19:52001485|GA ENST00000291707 | polymorphism | TN | TN | TN | FP | TN |
chr17:7357648|CA ENST00000306071 | disease_causing | TP | TP | FN | TP | FN |
chr11:3659993|GT ENST00000397068 | polymorphism | TN | TN | TN | TN | TN |
chr7:140477807|CT ENST00000288602 | disease_causing | TP | TP | TP | TP | TP |
chr8:134125682|GA ENST00000519543 | polymorphism | TN | TN | TN | TN | TN |
chr3:46501268|CT ENST00000231751 | polymorphism | TN | TN | TN | TN | TN |
chr5:42695093|TC ENST00000230882 | disease_causing | TP | TP | TP | TP | TP |
chr2:241631413|TG ENST00000429564 | polymorphism | FP | FP | TN | FP | FP |
chr10:44052903|AC ENST00000306006 | polymorphism | FP | FP | FP | FP | FP |
chr7:150553605|CT ENST00000493429 | polymorphism | TN | TN | TN | TN | TN |
chr19:55329901|AG ENST00000402254 | polymorphism | TN | TN | TN | TN | TN |
chr15:42442823|GC ENST00000397272 | polymorphism | TN | TN | TN | TN | TN |
chr3:150280445|CG ENST00000406576 | polymorphism | TN | TN | TN | TN | TN |
chr1:228494790|GA ENST00000422127 | polymorphism | TN | FP | TN | TN | TN |
chr19:43699417|AG ENST00000433626 | polymorphism | TN | TN | TN | TN | TN |
chr14:55332097|TA ENST00000543643 | disease_causing | TP | TP | TP | TP | TP |
chr17:4797305|GA ENST00000347992 | polymorphism | TN | TN | TN | TN | FP |
chr7:44184766|GA ENST00000403799 | disease_causing | FN | TP | TP | TP | TP |
chr4:41259633|CA ENST00000284440 | polymorphism | TN | FP | TN | TN | FP |
chr18:56202768|CA ENST00000361673 | polymorphism | TN | TN | TN | TN | TN |
chr20:43547677|TG ENST00000217074 | polymorphism | TN | TN | TN | TN | FP |
chr17:3561396|CT ENST00000381870 | polymorphism | TN | TN | TN | TN | FP |
chr6:7310259|AG ENST00000244763 | polymorphism | TN | TN | TN | TN | TN |
chr14:55310817|TC ENST00000491895 | disease_causing | FN | FN | FN | FN | TP |
chr19:16899865|AG ENST00000549814 | polymorphism | TN | TN | TN | TN | TN |
chr1:178489978|TG ENST00000319416 | polymorphism | FP | FP | FP | FP | TN |
chr5:149008521|AG ENST00000333677 | polymorphism | TN | TN | TN | TN | TN |
chr20:43255158|GA ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr5:72348272|AG ENST00000341845 | polymorphism | TN | TN | TN | TN | TN |
chr12:20522252|GA ENST00000359062 | polymorphism | TN | TN | TN | TN | TN |
chr2:241810808|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr1:15668276|GA ENST00000375998 | polymorphism | TN | TN | TN | TN | TN |
chr6:129807629|CT ENST00000421865 | polymorphism | FP | FP | FP | TN | FP |
chr8:101252680|TC ENST00000251809 | polymorphism | TN | TN | TN | TN | TN |
chr12:4479738|CT ENST00000237837 | disease_causing | TP | TP | FN | FN | TP |
chr9:139879170|GA ENST00000408973 | polymorphism | TN | FP | TN | TN | TN |
chr16:68714968|AT ENST00000264012 | disease_causing | TP | TP | TP | TP | TP |
chr3:44763037|AC ENST00000436624 | polymorphism | TN | TN | FP | FP | TN |
chr7:30795436|TG ENST0000013222 | polymorphism | FP | FP | FP | TN | TN |
chr1:16356501|GA ENST00000331433 | polymorphism | TN | TN | TN | TN | TN |
chr12:65269047|GA ENST00000539867 | polymorphism | TN | TN | TN | TN | TN |
chr9:35662251|TC ENST00000378387 | polymorphism | TN | TN | TN | TN | TN |
chr16:88876549|AG ENST00000378364 | disease_causing | TP | TP | TP | TP | TP |
chr10:123276891|GC ENST00000358487 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647699|TC ENST00000378842 | disease_causing | FN | FN | FN | FN | TP |
chr1:248084747|AC ENST00000319968 | polymorphism | TN | TN | TN | TN | TN |
chr3:121980436|GA ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr6:31239430|CT ENST00000383329 | polymorphism | TN | TN | TN | TN | TN |
chr17:61903445|GC ENST00000582115 | polymorphism | TN | TN | TN | TN | TN |
chr17:3386814|TC ENST00000456349 | disease_causing | TP | TP | TP | TP | TP |
chr19:50462298|GC ENST00000447370 | polymorphism | TN | TN | TN | TN | TN |
chr12:50344803|GA ENST00000199280 | disease_causing | TP | TP | TP | TP | TP |
chr3:43743962|AC ENST00000458276 | disease_causing | TP | TP | TP | TP | TP |
chr2:233392150|GA ENST00000258385 | disease_causing | TP | TP | TP | FN | TP |
chr5:140182101|GT ENST00000522353 | polymorphism | TN | TN | FP | TN | TN |
chr7:65557553|CT ENST00000304874 | disease_causing | TP | TP | TP | TP | TP |
chr3:183853340|TG ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr7:150490376|CT ENST00000447204 | polymorphism | FP | FP | FP | TN | TN |
chr13:20797510|AT ENST00000241124 | disease_causing | TP | TP | TP | TP | TP |
chr2:241813460|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr7:140477853|CG ENST00000288602 | disease_causing | FN | FN | TP | TP | TP |
chr12:89916811|CT ENST00000548729 | polymorphism | FP | FP | TN | FP | FP |
chr20:33971914|CT ENST00000359226 | polymorphism | TN | TN | TN | TN | TN |
chr10:123276896|TG ENST00000358487 | disease_causing | TP | TP | TP | TP | TP |
chr8:76468282|GA ENST00000396423 | polymorphism | TN | TN | TN | TN | FP |
chr15:89450587|GT ENST00000542878 | polymorphism | TN | TN | TN | TN | TN |
chr17:7128285|CT ENST00000543245 | disease_causing | TP | TP | TP | TP | TP |
chr9:107549221|GA ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr7:157931144|CT ENST00000409483 | polymorphism | TN | TN | TN | TN | TN |
chr11:88029333|TC ENST00000227266 | disease_causing | TP | TP | TP | TP | TP |
chr17:6524298|TA ENST00000361413 | polymorphism | FP | FP | TN | FP | FP |
chr20:43249032|GA ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr19:49368843|TC ENST00000263265 | polymorphism | TN | TN | TN | TN | TN |
chr21:15516948|CT ENST00000344577 | polymorphism | TN | TN | FP | TN | TN |
chr11:5444061|GA ENST00000300778 | polymorphism | TN | TN | TN | TN | TN |
chr16:15820863|CT ENST00000300036 | polymorphism | TN | TN | TN | TN | FP |
chr19:45855610|GA ENST00000391944 | disease_causing | TP | TP | TP | TP | TP |
chr18:48331553|TC ENST00000398439 | polymorphism | TN | FP | TN | TN | FP |
chr20:34022095|AC ENST00000374369 | disease_causing | FN | TP | FN | FN | TP |
chr7:143771937|GC ENST00000408898 | polymorphism | TN | TN | TN | TN | TN |
chr9:34723744|CA ENST00000378788 | polymorphism | TN | TN | TN | FP | TN |
chr16:28725247|AG ENST00000331666 | polymorphism | FP | FP | TN | TN | FP |
chr20:3063685|GA ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr13:52518281|GT ENST00000242839 | disease_causing | TP | TP | TP | TP | TP |
chr15:48779622|CT ENST00000316623 | disease_causing | TP | TP | TP | TP | TP |
chr2:241813452|CT ENST00000307503 | disease_causing | TP | TP | TP | TP | FN |
chr10:55955610|CT ENST00000373955 | polymorphism | TN | TN | TN | TN | TN |
chr1:228346273|TG ENST00000366714 | disease_causing | TP | TP | TP | TP | TP |
chr2:215851290|TC ENST00000272895 | disease_causing | TP | TP | TP | TP | TP |
chr14:88938652|AG ENST00000556564 | polymorphism | TN | TN | TN | TN | TN |
chr9:136293816|CT ENST00000371929 | disease_causing | TP | TP | TP | TP | FN |
chr15:79089111|AG ENST00000388820 | polymorphism | TN | TN | TN | TN | TN |
chr9:133364791|CT ENST00000352480 | disease_causing | FN | TP | TP | TP | TP |
chr1:152331240|GA ENST00000388718 | polymorphism | TN | TN | TN | TN | TN |
chr2:175809670|TA ENST00000409900 | disease_causing | TP | TP | FN | TP | TP |
chr7:27135314|CT ENST00000343060 | polymorphism | TN | TN | TN | TN | TN |
chr9:71687602|TG ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr1:110607256|GA ENST00000369792 | disease_causing | TP | TP | TP | TP | TP |
chr11:116706739|GA ENST00000375320 | disease_causing | TP | TP | TP | TP | FN |
chr9:34648442|CG ENST00000378842 | disease_causing | FN | FN | FN | TP | TP |
chr1:213068595|CT ENST00000366971 | polymorphism | TN | FP | TN | FP | TN |
chr22:43015810|CT ENST00000352397 | disease_causing | FN | TP | TP | TP | TP |
chr19:46914921|GA ENST00000307522 | polymorphism | TN | TN | TN | TN | TN |
chr22:38122122|TC ENST00000406386 | polymorphism | TN | TN | TN | FP | TN |
chr1:21890596|GA ENST00000374840 | disease_causing | FN | TP | TP | TP | TP |
chr2:178357898|GA ENST00000264167 | disease_causing | TP | TP | TP | TP | TP |
chr13:52532470|GC ENST00000242839 | disease_causing | TP | TP | TP | TP | TP |
chr1:55464998|GA ENST00000371265 | disease_causing | TP | TP | TP | TP | FN |
chr12:123200768|TG ENST00000528880 | polymorphism | TN | TN | TN | TN | TN |
chr12:121177159|CT ENST00000242592 | disease_causing | TP | TP | TP | TP | TP |
chr9:34649055|TA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr11:71148955|GA ENST00000407721 | disease_causing | FN | TP | TP | TP | FN |
chr17:4802331|CG ENST00000293780 | disease_causing | TP | TP | TP | TP | TP |
chr9:34646768|AG ENST00000378842 | disease_causing | FN | FN | FN | FN | FN |
chr2:49190615|TC ENST00000406846 | disease_causing | TP | TP | TP | TP | TP |
chr17:34755224|TC ENST00000394359 | polymorphism | TN | TN | TN | TN | TN |
chr3:75786684|GT ENST00000422325 | polymorphism | FP | FP | TN | TN | TN |
chr13:20763671|GA ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr9:71679936|TC ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr18:12340219|GA ENST00000269143 | disease_causing | TP | TP | TP | TP | TP |
chr1:116247833|CG ENST00000261448 | disease_causing | TP | TP | TP | TP | TP |
chr11:68678962|TC ENST00000255078 | polymorphism | TN | TN | TN | TN | TN |
chr1:227153420|CT ENST00000366779 | disease_causing | TP | TP | TP | TP | TP |
chr17:48264264|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr3:183859716|AG ENST00000444495 | disease_causing | FN | TP | TP | TP | TP |
chr18:12337503|CT ENST00000269143 | disease_causing | TP | TP | TP | TP | TP |
chr13:76397731|GA ENST00000321797 | polymorphism | TN | TN | TN | TN | TN |
chr11:108017061|GA ENST00000265838 | disease_causing | TP | TP | TP | TP | TP |
chr3:50597092|GA ENST00000357203 | polymorphism | FP | FP | TN | FP | FP |
chr1:19203992|GA ENST00000290597 | disease_causing | TP | TP | TP | TP | TP |
chr13:22255199|GA ENST00000382353 | disease_causing | FN | FN | TP | TP | TP |
chr15:91337484|GT ENST00000355112 | disease_causing | TP | TP | TP | TP | TP |
chr9:136289554|CG ENST00000371929 | disease_causing | TP | TP | TP | TP | TP |
chr11:36595600|AG ENST00000299440 | polymorphism | TN | TN | TN | TN | TN |
chr17:4804366|GA ENST00000293780 | disease_causing | TP | TP | TP | TP | TP |
chr1:21887619|CT ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr11:61727364|GA ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr18:55328514|GA ENST00000283684 | disease_causing | TP | TP | TP | TP | TP |
chr6:31379115|GA ENST00000364810 | polymorphism | TN | TN | FP | TN | TN |
chr17:4859921|GA ENST00000323997 | disease_causing | TP | TP | TP | TP | TP |
chr1:21903131|TC ENST00000374840 | disease_causing | TP | TP | FN | FN | TP |
chr1:196684809|TC ENST00000367429 | disease_causing | TP | TP | TP | TP | TP |
chr1:35226890|GA ENST00000339480 | disease_causing | TP | TP | TP | TP | TP |
chr1:228503677|AG ENST00000422127 | polymorphism | TN | TN | TN | TN | TN |
chr4:57215677|GA ENST00000503808 | polymorphism | TN | TN | TN | TN | TN |
chr19:18499422|CG ENST00000252809 | polymorphism | TN | TN | TN | TN | TN |
chr19:41930401|TG ENST00000269980 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648827|GT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr9:71687590|TA ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr11:122738261|AG ENST00000533709 | polymorphism | TN | TN | TN | TN | FP |
chr13:20797589|CT ENST00000241124 | disease_causing | TP | TP | TP | TP | TP |
chr1:53320274|GT ENST00000371528 | polymorphism | TN | TN | TN | TN | TN |
chr5:180377018|CA ENST00000400707 | polymorphism | TN | TN | TN | TN | TN |
chr16:88709882|GT ENST00000261623 | disease_causing | TP | TP | TP | TP | TP |
chr20:3063668|CA ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr19:10676681|TC ENST00000312962 | polymorphism | TN | TN | TN | TN | TN |
chr17:18653070|GA ENST00000395667 | polymorphism | TN | TN | TN | TN | TN |
chr17:14005547|CA ENST00000261643 | disease_causing | TP | TP | TP | TP | TP |
chr17:73953546|CA ENST00000293217 | disease_causing | TP | TP | TP | TP | TP |
chr8:133975283|GA ENST00000220616 | polymorphism | TN | TN | TN | FP | TN |
chr13:20717201|CT ENST00000241125 | disease_causing | TP | TP | TP | TP | TP |
chr5:112824039|TC ENST00000408903 | polymorphism | TN | TN | TN | TN | TN |
chr15:73023915|GC ENST00000268057 | disease_causing | TP | TP | TP | TP | TP |
chr10:121431885|CT ENST00000369085 | disease_causing | TP | TP | TP | TP | TP |
chr2:27804432|TC ENST00000408964 | polymorphism | TN | TN | TN | TN | TN |
chr8:144775871|CA ENST00000358656 | polymorphism | TN | TN | TN | TN | TN |
chr5:72419456|CG ENST00000454765 | polymorphism | TN | TN | FP | TN | TN |
chr1:222802376|AG ENST00000344441 | polymorphism | TN | TN | TN | TN | TN |
chr3:50334231|TA ENST00000443094 | polymorphism | TN | TN | TN | TN | TN |
chr19:20807292|CT ENST00000305570 | polymorphism | TN | TN | TN | TN | TN |
chr2:203395589|GA ENST00000374580 | disease_causing | TP | TP | TP | TP | TP |
chr7:150696111|TG ENST00000297494 | polymorphism | TN | TN | TN | TN | TN |
chr2:220286116|GC ENST00000373960 | disease_causing | TP | TP | TP | TP | TP |
chr1:53544597|TC ENST00000312553 | polymorphism | TN | TN | TN | TN | TN |
chr15:66411441|CT ENST00000360698 | polymorphism | TN | TN | TN | TN | TN |
chr6:42627434|GA ENST00000372901 | polymorphism | TN | TN | TN | TN | TN |
chr22:43024239|AG ENST00000352397 | disease_causing | TP | TP | TP | TP | TP |
chr3:195514768|TC ENST00000463781 | polymorphism | TN | FP | TN | TN | TN |
chr9:136404921|GA ENST00000354484 | disease_causing | TP | TP | TP | TP | TP |
chr1:94528806|AG ENST00000370225 | disease_causing | TP | TP | TP | TP | TP |
chr3:125865766|CA ENST00000393434 | polymorphism | TN | TN | FP | FP | TN |
chr2:241808608|GC ENST00000307503 | disease_causing | TP | TP | TP | FN | TP |
chr12:76740834|AC ENST00000393262 | disease_causing | TP | TP | FN | TP | TP |
chr12:122812503|GC ENST00000302528 | polymorphism | TN | TN | TN | TN | TN |
chr5:140203432|CT ENST00000529859 | polymorphism | TN | TN | TN | TN | TN |
chr12:50347951|CT ENST00000199280 | disease_causing | TP | TP | FN | FN | FN |
chr1:21903075|AG ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr4:129100643|GA ENST00000441387 | polymorphism | TN | TN | TN | TN | TN |
chr3:81627151|GA ENST00000429644 | disease_causing | TP | TP | TP | TP | TP |
chr11:56128081|AG ENST00000303039 | polymorphism | TN | TN | FP | FP | TN |
chr14:105411700|AG ENST00000333244 | polymorphism | TN | TN | TN | TN | TN |
chr6:32632745|GA ENST00000374943 | polymorphism | TN | TN | TN | TN | TN |
chr5:176885499|TC ENST00000292385 | polymorphism | TN | TN | TN | TN | TN |
chr9:34649039|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr6:7585996|GA ENST00000379802 | disease_causing | TP | TP | TP | TP | TP |
chr2:48807796|AC ENST00000309835 | polymorphism | TN | TN | TN | TN | TN |
chr2:175618970|CT ENST00000348749 | disease_causing | TP | TP | FN | TP | TP |
chr13:20763497|CT ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr17:48265483|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr22:43027392|AG ENST00000352397 | disease_causing | TP | TP | TP | TP | TP |
chr1:28209366|AG ENST00000328928 | polymorphism | TN | TN | TN | TN | TN |
chr1:38397369|CT ENST00000373026 | polymorphism | TN | FP | TN | TN | TN |
chr17:38028634|GT ENST00000348931 | polymorphism | TN | TN | FP | FP | TN |
chr10:88679073|CA ENST00000372037 | disease_causing | TP | TP | TP | TP | TP |
chr1:55541174|AG ENST00000407756 | polymorphism | TN | TN | TN | TN | TN |
chr11:108009736|GA ENST00000265838 | disease_causing | TP | TP | TP | TP | TP |
chr2:203332348|TG ENST00000374580 | disease_causing | TP | TP | TP | TP | TP |
chr16:89249963|CT ENST00000289746 | disease_causing | TP | TP | TP | TP | TP |
chr2:38302177|CA ENST00000260630 | polymorphism | TN | TN | TN | TN | TN |
chr8:75276369|CT ENST00000220822 | disease_causing | TP | TP | TP | TP | TP |
chr4:1087531|TC ENST00000333673 | polymorphism | TN | TN | TN | TN | TN |
chr16:74664743|TC ENST00000361070 | polymorphism | TN | TN | TN | TN | FP |
chr17:48267369|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr9:107584802|TG ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr9:43626759|GA ENST00000332857 | polymorphism | TN | TN | TN | TN | TN |
chr22:43089398|CT ENST00000401850 | disease_causing | TP | TP | TP | TP | TP |
chr7:31016054|AG ENST00000326139 | disease_causing | TP | TP | TP | TP | FN |
chr19:58151286|TC ENST00000299871 | polymorphism | TN | TN | TN | TN | TN |
chr7:22533452|CT ENST00000404369 | polymorphism | TN | TN | TN | TN | TN |
chr4:8454639|AG ENST00000513449 | polymorphism | TN | TN | TN | TN | TN |
chr19:38912764|AG ENST00000587753 | polymorphism | TN | TN | TN | TN | TN |
chr19:42213772|AG ENST00000221992 | polymorphism | TN | TN | TN | TN | TN |
chr6:80878662|GC ENST00000369760 | disease_causing | TP | TP | TP | TP | TP |
chr2:241808359|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr6:33139540|GA ENST00000374708 | disease_causing | TP | TP | TP | TP | TP |
chr8:145661675|GA ENST00000409379 | polymorphism | TN | TN | TN | TN | TN |
chr11:51516036|GA ENST00000328188 | polymorphism | FP | FP | FP | FP | TN |
chr2:218695102|GA ENST00000171887 | polymorphism | TN | TN | TN | FP | TN |
chr2:203417497|GA ENST00000374580 | disease_causing | TP | TP | TP | TP | TP |
chr2:241808388|CT ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr2:74725178|GA ENST00000460508 | polymorphism | TN | TN | FP | FP | TN |
chr12:11183832|GA ENST00000390675 | polymorphism | TN | TN | TN | TN | TN |
chr3:183854424|GA ENST00000273783 | disease_causing | TP | TP | FN | TP | TP |
chr13:51417535|GA ENST00000504404 | polymorphism | TN | TN | TN | TN | TN |
chr11:124266906|CT ENST00000354597 | polymorphism | TN | TN | TN | TN | TN |
chr12:121164918|CT ENST00000242592 | disease_causing | TP | TP | TP | TP | TP |
chr20:3063658|CA ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr14:73711394|AG ENST00000554301 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647116|AC ENST00000378842 | disease_causing | FN | FN | FN | FN | TP |
chr7:30649345|GC ENST00000389266 | disease_causing | TP | TP | TP | TP | TP |
chr1:35250860|AG ENST00000373366 | disease_causing | FN | FN | FN | FN | FN |
chr5:140307969|CG ENST00000409700 | polymorphism | TN | TN | TN | TN | TN |
chr6:131902466|GT ENST00000368087 | disease_causing | TP | TP | TP | TP | TP |
chr16:27374180|TC ENST00000170630 | polymorphism | TN | FP | TN | TN | TN |
chr3:97365038|GA ENST00000514100 | polymorphism | TN | TN | TN | FP | TN |
chr11:1858262|CT ENST00000381968 | polymorphism | FP | FP | FP | FP | FP |
chr6:33134513|CT ENST00000374708 | disease_causing | TP | TP | TP | TP | TP |
chr19:42482193|GA ENST00000302102 | disease_causing | TP | TP | TP | TP | TP |
chr15:90784250|TC ENST00000329600 | polymorphism | TN | TN | TN | TN | TN |
chr9:71650816|CT ENST00000377270 | disease_causing | TP | TP | FN | TP | FN |
chr15:42703124|GA ENST00000357568 | disease_causing | TP | TP | TP | TP | TP |
chr19:5772950|GA ENST00000381624 | polymorphism | FP | FP | TN | TN | TN |
chr6:32632782|GA ENST00000399079 | polymorphism | TN | TN | TN | TN | TN |
chr16:75238103|CT ENST00000303037 | polymorphism | TN | TN | TN | TN | TN |
chr1:161683136|GA ENST00000350710 | polymorphism | TN | TN | TN | TN | TN |
chr9:104133461|TC ENST00000395051 | disease_causing | TP | TP | TP | TP | TP |
chr2:238244963|AG ENST00000409809 | polymorphism | TN | TN | TN | TN | TN |
chr16:31202731|GA ENST00000254108 | disease_causing | TP | TP | FN | TP | TP |
chr5:32400266|AG ENST00000265069 | polymorphism | TN | TN | TN | TN | TN |
chr6:46658905|CG ENST00000316081 | polymorphism | TN | TN | TN | TN | TN |
chr5:177035995|CT ENST0000029410 | disease_causing | TP | TP | TP | TP | TP |
chr12:21015760|GA ENST00000553473 | polymorphism | TN | TN | TN | TN | TN |
chr1:225266966|CG ENST00000439375 | polymorphism | TN | TN | TN | TN | TN |
chr13:20716868|GA ENST00000241125 | disease_causing | TP | TP | TP | TP | TP |
chr22:32586854|CT ENST00000400237 | polymorphism | TN | TN | TN | TN | TN |
chr5:5146335|CG ENST00000274181 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648341|GA ENST00000378842 | disease_causing | TP | TP | FN | FN | TP |
chr11:1774823|CG ENST00000236671 | disease_causing | TP | TP | TP | TP | TP |
chr9:125330678|TG ENST00000304865 | polymorphism | TN | TN | TN | TN | TN |
chr11:62951221|CG ENST00000306494 | polymorphism | FP | FP | FP | FP | TN |
chr2:44051210|CT ENST00000260645 | disease_causing | TP | TP | FN | FN | TP |
chr17:39883350|GA ENST00000393939 | polymorphism | TN | TN | TN | TN | TN |
chr14:51081143|CA ENST00000441560 | disease_causing | TP | TP | TP | TP | TP |
chr14:20665790|TA ENST00000357366 | polymorphism | FP | FP | FP | FP | FP |
chr7:31013667|CA ENST00000326139 | disease_causing | TP | TP | FN | TP | TP |
chr8:144996029|AG ENST00000322810 | polymorphism | TN | TN | TN | TN | TN |
chr2:241814572|GC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr16:75513206|TC ENST00000332272 | disease_causing | TP | TP | TP | TP | TP |
chr3:57528503|AG ENST00000311202 | polymorphism | TN | TN | TN | TN | TN |
chr8:124710729|CT ENST00000262219 | polymorphism | TN | TN | TN | FP | TN |
chr10:26355992|AG ENST00000265944 | polymorphism | TN | TN | TN | TN | TN |
chr11:17491656|AG ENST00000389817 | disease_causing | TP | TP | TP | TP | TP |
chr12:110780235|AG ENST00000308664 | disease_causing | TP | TP | TP | TP | TP |
chr1:35226920|GA ENST00000339480 | disease_causing | TP | TP | TP | TP | TP |
chr3:121976096|CA ENST00000490131 | disease_causing | TP | TP | FN | FN | TP |
chr22:51009953|CT ENST00000360719 | polymorphism | TN | FP | FP | TN | FP |
chr1:94496666|GA ENST00000370225 | disease_causing | TP | TP | TP | TP | TP |
chr6:31379807|CT ENST00000376222 | polymorphism | TN | TN | FP | TN | TN |
chr7:20698270|AG ENST00000258738 | polymorphism | TN | TN | TN | TN | TN |
chr17:73552185|GA ENST00000167462 | polymorphism | TN | TN | FP | TN | TN |
chr14:31381351|TC ENST00000355683 | polymorphism | TN | TN | FP | FP | FP |
chr19:54782407|CT ENST00000391749 | polymorphism | TN | TN | TN | TN | TN |
chr21:27264170|GC ENST00000346798 | disease_causing | TP | TP | FN | FN | TP |
chr14:65031534|CT ENST00000298705 | polymorphism | TN | TN | TN | TN | TN |
chr5:140230370|AC ENST00000378122 | polymorphism | TN | TN | TN | FP | TN |
chr13:20763170|CG ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr9:14846036|CG ENST00000422223 | polymorphism | TN | TN | TN | TN | FP |
chr6:24780892|AC ENST00000356509 | polymorphism | FP | FP | TN | TN | FP |
chr5:178507069|TC ENST00000315475 | polymorphism | TN | TN | TN | TN | TN |
chr1:24706292|TC ENST00000440416 | polymorphism | TN | TN | TN | TN | TN |
chr8:17817553|GT ENST00000524226 | polymorphism | TN | FP | TN | TN | FP |
chr3:93722608|GA ENST00000394222 | disease_causing | TP | TP | TP | TP | TP |
chr13:20763546|CT ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr19:6903920|AG ENST00000381404 | polymorphism | TN | FP | TN | TN | TN |
chr3:58067419|TC ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr17:17409560|CT ENST00000395781 | polymorphism | TN | TN | TN | TN | TN |
chr1:17322503|CG ENST00000326735 | disease_causing | FN | TP | FN | TP | TP |
chr6:31379109|GA ENST00000449934 | polymorphism | TN | TN | TN | TN | TN |
chr18:55217966|AG ENST00000262093 | disease_causing | TP | TP | TP | TP | TP |
chr12:133306589|CT ENST00000357997 | polymorphism | TN | FP | TN | TN | TN |
chr15:75499995|TG ENST00000394987 | polymorphism | TN | TN | TN | TN | TN |
chr8:97157179|GT ENST00000287020 | disease_causing | FN | FN | FN | FN | FN |
chr13:20763559|GT ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647101|GA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr19:38056763|CG ENST00000328550 | polymorphism | TN | TN | TN | TN | TN |
chr16:75513450|GT ENST00000332272 | disease_causing | TP | TP | TP | TP | TP |
chr16:19041595|GA ENST00000569532 | polymorphism | TN | TN | TN | TN | FP |
chr22:50315363|CA ENST00000328268 | polymorphism | FP | FP | FP | TN | TN |
chr14:94847415|AG ENST00000449399 | polymorphism | TN | TN | TN | TN | TN |
chr5:35692775|TA ENST00000356031 | polymorphism | TN | TN | TN | TN | TN |
chr2:127834262|CA ENST00000376113 | disease_causing | TP | TP | TP | TP | TP |
chr11:17496508|TC ENST00000389817 | disease_causing | FN | FN | FN | FN | TP |
chr9:34648160|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr2:234601669|TG ENST00000305139 | polymorphism | TN | TN | TN | TN | TN |
chr7:44187331|CT ENST00000403799 | disease_causing | TP | TP | TP | TP | TP |
chr4:122250734|AG ENST00000394427 | polymorphism | TN | FP | TN | FP | FP |
chr1:227922918|AC ENST00000438896 | polymorphism | TN | TN | TN | TN | TN |
chr10:68040325|CT ENST00000373744 | polymorphism | TN | TN | TN | TN | TN |
chr21:27264095|AC ENST00000346798 | disease_causing | TP | TP | TP | TP | TP |
chr11:108005967|CG ENST00000265838 | disease_causing | TP | TP | FN | FN | TP |
chr2:166615372|GT ENST00000392701 | disease_causing | TP | TP | TP | TP | TP |
chr6:29523872|AG ENST00000377050 | polymorphism | TN | TN | TN | TN | TN |
chr6:10687746|GT ENST00000426700 | polymorphism | FP | FP | TN | FP | TN |
chr12:25671759|TA ENST00000282881 | polymorphism | TN | TN | TN | TN | TN |
chr6:32629935|CG ENST00000434651 | polymorphism | TN | TN | FP | TN | TN |
chr11:68552419|AC ENST00000540367 | disease_causing | TP | TP | TP | TP | TP |
chr3:57136585|CT ENST00000427856 | polymorphism | TN | FP | TN | TN | FP |
chr6:121768043|AC ENST00000282561 | disease_causing | TP | TP | TP | TP | TP |
chr7:140477806|TC ENST00000288602 | disease_causing | TP | TP | TP | TP | TP |
chr11:102995926|CT ENST00000398093 | disease_causing | TP | TP | TP | TP | TP |
chr7:64452830|CT ENST00000394323 | polymorphism | FP | FP | TN | TN | TN |
chr2:241808407|GA ENST00000307503 | disease_causing | FN | TP | FN | FN | FN |
chr1:197024850|CA ENST00000367412 | disease_causing | TP | TP | TP | FN | TP |
chr19:14582468|GA ENST00000242783 | polymorphism | TN | TN | TN | TN | FP |
chr10:121586882|AG ENST00000361976 | polymorphism | TN | TN | TN | TN | TN |
chr14:102391577|GC ENST00000334743 | polymorphism | TN | TN | TN | TN | FP |
chr1:67288045|CT ENST00000371026 | polymorphism | TN | TN | TN | TN | TN |
chr19:15838972|TA ENST00000305899 | polymorphism | FP | FP | TN | TN | FP |
chr1:196659324|TA ENST00000367429 | disease_causing | TP | TP | TP | TP | TP |
chr10:134748331|CT ENST00000368582 | polymorphism | TN | TN | TN | TN | TN |
chr17:48266138|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr9:34649007|TA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr17:48265335|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr3:73111368|TC ENST00000533473 | polymorphism | TN | TN | TN | TN | TN |
chr17:79637367|CG ENST00000329214 | polymorphism | TN | TN | TN | TN | TN |
chr9:34649424|GA ENST00000378842 | disease_causing | FN | FN | FN | FN | FN |
chr16:81061827|GA ENST00000305850 | polymorphism | TN | TN | TN | TN | TN |
chr8:38282208|GC ENST00000397091 | disease_causing | TP | TP | TP | TP | TP |
chr20:43249744|GT ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr11:114401611|AG ENST00000536312 | polymorphism | TN | TN | TN | TN | TN |
chr15:56152729|TC ENST00000338963 | polymorphism | TN | TN | TN | TN | TN |
chr3:97851998|AC ENST00000354565 | polymorphism | TN | TN | TN | TN | TN |
chr2:241816958|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr13:52513227|GA ENST00000242839 | disease_causing | TP | TP | TP | TP | TP |
chr15:34673722|CT ENST00000360553 | polymorphism | TN | TN | TN | TN | TN |
chr1:21902361|AT ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr6:32610487|CG ENST00000395364 | polymorphism | TN | TN | TN | TN | TN |
chr11:69633506|CA ENST00000334134 | disease_causing | TP | TP | TP | TP | TP |
chr10:96954298|AG ENST00000341686 | polymorphism | TN | TN | TN | TN | TN |
chr14:31348132|GA ENST00000216361 | disease_causing | FN | FN | FN | FN | TP |
chr11:66298444|TC ENST00000318312 | disease_causing | FN | TP | FN | FN | TP |
chr1:201869257|GA ENST00000367288 | polymorphism | TN | FP | TN | TN | TN |
chr9:107550750|AG ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr2:233391374|TC ENST00000258385 | disease_causing | TP | TP | TP | TP | TP |
chr4:79240063|AG ENST00000325942 | polymorphism | TN | TN | TN | TN | TN |
chr16:8862105|GA ENST00000268251 | disease_causing | TP | TP | TP | TP | TP |
chr3:183858291|GT ENST00000273783 | disease_causing | FN | TP | TP | TP | TP |
chr7:65551738|GA ENST00000304874 | disease_causing | FN | TP | FN | FN | TP |
chr2:202626247|CT ENST00000264276 | disease_causing | TP | TP | TP | TP | TP |
chr10:88679187|GA ENST00000372037 | disease_causing | TP | TP | TP | TP | TP |
chr11:68840160|AG ENST00000542467 | polymorphism | TN | TN | TN | TN | TN |
chr12:31249861|CG ENST00000350437 | polymorphism | TN | TN | TN | TN | TN |
chr12:6711147|CA ENST00000357008 | polymorphism | TN | TN | TN | TN | TN |
chr6:47649694|AG ENST00000296862 | polymorphism | FP | FP | TN | TN | FP |
chr12:52309967|GC ENST00000388922 | disease_causing | TP | TP | TP | TP | TP |
chr14:81575005|CA ENST00000342443 | polymorphism | TN | TN | TN | TN | TN |
chr2:240982228|CT ENST00000408934 | polymorphism | TN | TN | TN | TN | TN |
chr9:71687538|CT ENST00000377270 | disease_causing | TP | TP | TP | TP | TP |
chr19:54726324|GC ENST00000424807 | polymorphism | TN | TN | TN | TN | TN |
chr7:87073002|AG ENST00000359206 | disease_causing | TP | TP | TP | TP | TP |
chr9:34649057|CA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr3:113890815|CT ENST00000295881 | polymorphism | TN | TN | TN | TN | TN |
chr16:1536535|CT ENST00000293922 | polymorphism | TN | TN | TN | TN | TN |
chr12:10962115|AG ENST00000240691 | polymorphism | TN | TN | TN | TN | TN |
chr7:31010798|TA ENST00000326139 | disease_causing | TP | TP | TP | TP | TP |
chr4:129043204|CG ENST00000326639 | polymorphism | FP | FP | FP | FP | FP |
chr13:110839528|CT ENST00000375820 | disease_causing | TP | TP | TP | TP | TP |
chr19:38379446|CT ENST00000447313 | polymorphism | TN | TN | TN | TN | TN |
chr2:71185243|TC ENST00000234396 | disease_causing | TP | TP | TP | TP | TP |
chr2:165476253|AT ENST00000263915 | polymorphism | TN | TN | TN | TN | TN |
chr4:187627792|TC ENST00000441802 | polymorphism | TN | TN | TN | TN | TN |
chr5:825280|CT ENST00000424784 | polymorphism | TN | TN | TN | TN | TN |
chr17:48266791|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr2:49190405|GT ENST00000406846 | disease_causing | TP | TP | TP | TP | TP |
chr17:48267406|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr8:19362768|CT ENST00000332246 | polymorphism | TN | TN | TN | TN | TN |
chr3:15686958|CT ENST00000449107 | disease_causing | TP | TP | TP | TP | TP |
chr15:90335788|CT ENST00000300060 | polymorphism | TN | TN | TN | TN | TN |
chr19:55174498|TC ENST00000270452 | polymorphism | TN | TN | TN | TN | TN |
chr1:19611241|TC ENST00000361640 | polymorphism | TN | TN | TN | TN | TN |
chr11:30255162|TG ENST00000254122 | disease_causing | TP | TP | TP | TP | TP |
chr3:75790448|TC ENST00000477374 | polymorphism | TN | TN | TN | TN | TN |
chr7:140449165|AT ENST00000288602 | disease_causing | TP | TP | TP | TP | TP |
chr12:4479879|GA ENST00000237837 | disease_causing | TP | TP | TP | TP | TP |
chr1:147380221|GA ENST00000369235 | disease_causing | TP | TP | TP | TP | TP |
chr20:62193445|GA ENST00000467148 | polymorphism | FP | FP | FP | FP | FP |
chr12:121435427|GA ENST00000544413 | polymorphism | TN | TN | TN | TN | FP |
chr1:160109525|CT ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr16:81399037|GA ENST00000248272 | disease_causing | FN | TP | FN | FN | TP |
chr18:32374214|CT ENST00000315456 | disease_causing | FN | TP | TP | FN | TP |
chr12:21713402|TC ENST00000261195 | polymorphism | TN | TN | TN | TN | TN |
chr6:159655084|CG ENST00000340366 | polymorphism | TN | TN | TN | TN | TN |
chr2:133174764|CT ENST00000329321 | polymorphism | TN | TN | TN | TN | TN |
chr5:78251309|AG ENST00000264914 | disease_causing | TP | TP | TP | TP | TP |
chr2:219525843|CT ENST00000359273 | disease_causing | TP | TP | TP | TP | TP |
chr3:39184959|CT ENST00000514182 | polymorphism | TN | TN | TN | TN | TN |
chr2:203417479|AG ENST00000374580 | disease_causing | TP | TP | TP | TP | TP |
chr4:25032135|CT ENST00000382114 | polymorphism | TN | TN | TN | TN | FP |
chr20:3063784|CA ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr10:102749527|CT ENST00000311916 | disease_causing | TP | TP | TP | TP | TP |
chr7:82581859|CT ENST00000423517 | polymorphism | TN | TN | TN | TN | TN |
chr3:75787372|AT ENST00000422325 | polymorphism | TN | TN | TN | TN | TN |
chr17:2236404|TC ENST00000301364 | polymorphism | TN | TN | TN | TN | TN |
chr7:138602523|TC ENST00000422774 | polymorphism | TN | TN | TN | TN | TN |
chr2:132110828|GT ENST00000303908 | polymorphism | TN | FP | TN | FP | TN |
chr19:55530035|CT ENST00000333884 | polymorphism | TN | TN | TN | TN | TN |
chr20:18395988|CT ENST00000262547 | polymorphism | TN | TN | TN | TN | TN |
chr6:116446576|AG ENST00000243222 | polymorphism | TN | TN | TN | TN | TN |
chr14:55332067|TG ENST00000543643 | disease_causing | TP | TP | TP | TP | TP |
chr18:691266|AG ENST00000585128 | polymorphism | TN | TN | TN | TN | TN |
chr10:101451259|TC ENST00000370489 | polymorphism | TN | TN | TN | TN | TN |
chr7:91670004|CT ENST00000356239 | disease_causing | FN | FN | FN | FN | FN |
chr2:215845332|CT ENST00000272895 | disease_causing | TP | TP | TP | TP | TP |
chr2:186671912|GA ENST00000424728 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647110|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr4:110581363|TA ENST00000394650 | polymorphism | TN | TN | TN | TN | TN |
chr2:71797430|GT ENST00000413539 | disease_causing | TP | TP | TP | TP | TP |
chr6:80878730|CT ENST00000369760 | disease_causing | TP | TP | TP | TP | TP |
chr1:94508969|GA ENST00000370225 | disease_causing | FN | FN | FN | FN | TP |
chr19:45412013|CA ENST00000252486 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648156|CA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr6:53883843|GA ENST00000509997 | polymorphism | TN | TN | TN | TN | TN |
chr17:59885849|CT ENST00000259008 | disease_causing | FN | TP | FN | FN | TP |
chr19:55331419|CT ENST00000541392 | polymorphism | TN | FP | FP | FP | TN |
chr11:26586801|GA ENST00000281268 | polymorphism | TN | FP | FP | TN | TN |
chr17:19559848|GA ENST00000176643 | disease_causing | TP | TP | TP | TP | TP |
chr22:40755283|TC ENST00000216194 | disease_causing | FN | FN | FN | FN | TP |
chr9:34647956|CA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr12:121712077|TA ENST00000337174 | polymorphism | TN | TN | TN | TN | TN |
chr16:29908433|CG ENST00000308713 | polymorphism | TN | TN | TN | TN | TN |
chr1:11836628|TC ENST00000433342 | polymorphism | TN | TN | TN | TN | TN |
chr11:1269398|CT ENST00000529681 | polymorphism | FP | FP | TN | FP | TN |
chr14:55369059|CT ENST00000543643 | disease_causing | TP | TP | TP | TP | TP |
chr15:48058071|GA ENST00000354744 | polymorphism | TN | TN | TN | TN | FP |
chr1:94481322|GT ENST00000370225 | disease_causing | TP | TP | TP | TP | TP |
chr3:183027542|TG ENST00000473233 | polymorphism | TN | TN | TN | TN | TN |
chr18:12337410|CT ENST00000269143 | disease_causing | TP | TP | TP | FN | TP |
chr6:32551957|GT ENST00000360004 | polymorphism | TN | TN | TN | TN | TN |
chr1:154557469|AG ENST00000368474 | disease_causing | TP | TP | TP | TP | TP |
chr6:97058574|GA ENST00000541107 | polymorphism | TN | TN | TN | FP | TN |
chr22:43023333|AG ENST00000352397 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648143|GT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647693|GA ENST00000378842 | disease_causing | FN | FN | FN | FN | TP |
chr3:15686118|AG ENST00000449107 | disease_causing | FN | FN | TP | TP | TP |
chr1:227173027|GA ENST00000366779 | disease_causing | TP | TP | TP | TP | TP |
chr20:54961541|AT ENST00000395915 | polymorphism | TN | TN | FP | TN | TN |
chr19:52000672|GA ENST00000291707 | polymorphism | TN | TN | TN | TN | TN |
chr2:215843554|CT ENST00000272895 | disease_causing | TP | TP | TP | TP | TP |
chr1:161163037|TC ENST00000367996 | polymorphism | TN | TN | TN | TN | TN |
chr10:101605538|AG ENST00000370449 | disease_causing | TP | TP | TP | TP | TP |
chr6:31324525|CT ENST00000412585 | polymorphism | TN | TN | TN | TN | TN |
chr1:19413261|TA ENST00000375254 | polymorphism | TN | TN | TN | TN | TN |
chr12:50349347|GA ENST00000199280 | disease_causing | TP | TP | FN | FN | TP |
chr6:123869607|GC ENST00000546248 | polymorphism | TN | TN | TN | TN | TN |
chr17:48266370|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr3:58083645|GA ENST00000358537 | disease_causing | TP | TP | TP | TP | TP |
chr1:13364904|CT ENST00000376168 | polymorphism | TN | FP | FP | FP | TN |
chr8:133637659|GA ENST00000518642 | polymorphism | TN | TN | TN | TN | TN |
chr10:73767565|TC ENST00000373115 | disease_causing | TP | TP | TP | TP | TP |
chr13:20763116|CA ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr6:121768279|GA ENST00000282561 | disease_causing | TP | TP | FN | TP | TP |
chr17:6493198|TC ENST00000361413 | polymorphism | TN | TN | TN | TN | TN |
chr12:55641295|AG ENST00000343870 | polymorphism | TN | TN | TN | TN | TN |
chr1:103470189|CA ENST00000370096 | disease_causing | TP | TP | TP | TP | TP |
chr2:44104730|TG ENST00000272286 | disease_causing | TP | TP | TP | TP | TP |
chr1:207795320|AG ENST00000367051 | polymorphism | TN | TN | TN | TN | TN |
chr6:160196343|AG ENST00000541436 | polymorphism | FP | FP | TN | FP | FP |
chr9:34647224|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:196716337|TC ENST00000367429 | disease_causing | TP | TP | TP | TP | FN |
chr2:241817545|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr6:6224943|CA ENST00000264870 | disease_causing | TP | TP | TP | TP | TP |
chr6:29910717|AG ENST00000376802 | polymorphism | TN | TN | TN | TN | TN |
chr2:175614871|CA ENST00000348749 | disease_causing | TP | TP | TP | TP | TP |
chr4:1807363|AG ENST00000481110 | disease_causing | TP | TP | FN | TP | TP |
chr17:41059569|GA ENST00000253801 | disease_causing | TP | TP | FN | TP | TP |
chr6:28269663|AG ENST00000405948 | polymorphism | TN | TN | TN | TN | TN |
chr14:35182668|CT ENST00000341223 | disease_causing | FN | FN | TP | TP | TP |
chr14:51058305|TG ENST00000441560 | disease_causing | TP | TP | TP | TP | TP |
chr19:58152795|CT ENST00000299871 | polymorphism | TN | TN | TN | TN | TN |
chr15:40903684|AG ENST00000399668 | polymorphism | TN | TN | TN | TN | TN |
chr6:116441328|AG ENST00000327673 | disease_causing | TP | TP | TP | TP | TP |
chr17:33448818|TC ENST00000158009 | polymorphism | TN | TN | TN | TN | TN |
chr9:136293870|GC ENST00000371929 | disease_causing | FN | TP | TP | TP | FN |
chr11:76853783|TC ENST00000409709 | polymorphism | TN | TN | TN | TN | TN |
chr1:114438951|AG ENST00000369569 | polymorphism | TN | TN | TN | TN | FP |
chr12:50349221|TC ENST00000199280 | disease_causing | TP | TP | TP | TP | TP |
chr2:49210264|GA ENST00000406846 | disease_causing | TP | TP | TP | FN | TP |
chr6:10877529|CT ENST00000379491 | disease_causing | TP | TP | TP | FN | TP |
chr17:5042894|TC ENST00000574788 | polymorphism | TN | TN | TN | TN | TN |
chr20:1546911|CG ENST00000381603 | polymorphism | TN | TN | TN | TN | TN |
chr20:34021742|CT ENST00000374369 | disease_causing | TP | TP | TP | FN | TP |
chr4:17660082|CT ENST00000265018 | polymorphism | TN | TN | TN | TN | TN |
chr12:50744119|GA ENST00000543111 | polymorphism | TN | TN | TN | TN | TN |
chr3:183860062|CT ENST00000273783 | disease_causing | FN | FN | TP | TP | TP |
chr9:139568358|AG ENST00000371694 | disease_causing | TP | TP | TP | TP | TP |
chr19:6156483|TC ENST00000252669 | polymorphism | TN | TN | TN | TN | TN |
chr19:45855769|CT ENST00000391945 | disease_causing | TP | TP | TP | TP | TP |
chr2:202264156|CT ENST00000430254 | polymorphism | TN | TN | TN | TN | TN |
chr19:12541795|CA ENST00000301547 | polymorphism | TN | TN | FP | FP | TN |
chr1:55464881|CT ENST00000371265 | disease_causing | TP | TP | TP | TP | TP |
chr10:73767453|CT ENST00000373115 | disease_causing | TP | TP | FN | FN | TP |
chr2:240982173|AG ENST00000408934 | polymorphism | TN | TN | TN | TN | TN |
chr6:46803018|AT ENST00000230588 | polymorphism | TN | TN | TN | TN | TN |
chr15:57925836|CT ENST00000587652 | polymorphism | FP | FP | TN | TN | FP |
chr6:31238957|AC ENST00000383329 | polymorphism | TN | TN | TN | TN | TN |
chr1:234614390|GC ENST0000040877 | polymorphism | TN | TN | TN | TN | TN |
chr18:2707619|GA ENST00000261598 | polymorphism | TN | TN | TN | TN | TN |
chr5:78260300|TC ENST00000264914 | disease_causing | TP | TP | TP | TP | TP |
chr6:29555864|CT ENST00000383640 | polymorphism | TN | TN | TN | TN | TN |
chr2:242814360|TC ENST00000343216 | polymorphism | TN | TN | TN | TN | TN |
chr14:55312510|CT ENST00000543643 | disease_causing | TP | TP | TP | TP | TP |
chr2:169833100|CG ENST00000263817 | disease_causing | TP | TP | TP | TP | TP |
chr9:135374764|GA ENST00000393215 | polymorphism | TN | FP | FP | FP | FP |
chr11:5510688|TC ENST00000322641 | polymorphism | FP | FP | FP | FP | FP |
chr8:17916933|TC ENST00000262097 | disease_causing | TP | TP | TP | TP | TP |
chr11:3381369|GC ENST00000429541 | polymorphism | TN | TN | TN | FP | TN |
chr1:53535478|GA ENST00000371500 | polymorphism | TN | TN | TN | TN | TN |
chr12:46321514|AT ENST00000369367 | polymorphism | TN | FP | TN | TN | TN |
chr3:183858287|GC ENST00000273783 | disease_causing | FN | FN | TP | TP | TP |
chr16:16256944|GA ENST00000205557 | disease_causing | TP | TP | TP | TP | TP |
chr5:127680077|CG ENST00000508053 | disease_causing | TP | TP | TP | TP | TP |
chr14:51094872|CT ENST00000441560 | disease_causing | TP | TP | TP | TP | TP |
chr10:97366557|GA ENST00000371224 | disease_causing | TP | TP | TP | TP | TP |
chr13:52520574|CT ENST00000242839 | disease_causing | TP | TP | FN | FN | TP |
chr12:53823691|GA ENST00000257863 | disease_causing | FN | FN | FN | FN | FN |
chr9:130634986|CT ENST00000373176 | disease_causing | TP | TP | TP | TP | TP |
chr14:21161844|AG ENST00000336811 | disease_causing | FN | FN | FN | FN | FN |
chr17:38062217|CT ENST00000418519 | polymorphism | FP | FP | FP | TN | TN |
chr15:42684847|CT ENST00000357568 | disease_causing | FN | TP | TP | TP | TP |
chr15:90800449|CT ENST00000438251 | polymorphism | TN | TN | TN | TN | TN |
chr4:6596360|GA ENST00000504248 | polymorphism | TN | TN | TN | TN | TN |
chr9:133342161|GA ENST00000352480 | disease_causing | FN | TP | TP | TP | TP |
chr5:14871544|GT ENST00000284268 | disease_causing | FN | FN | TP | TP | TP |
chr3:160803732|CT ENST00000320474 | disease_causing | TP | TP | TP | TP | TP |
chr4:110667554|TA ENST00000394635 | disease_causing | TP | TP | TP | TP | TP |
chr11:88033700|TA ENST00000227266 | disease_causing | TP | TP | TP | TP | TP |
chr2:188343497|TC ENST00000409676 | polymorphism | TN | TN | TN | TN | TN |
chr13:32930658|TC ENST00000380152 | disease_causing | TP | TP | FN | TP | TP |
chr17:56435885|GT ENST00000584437 | polymorphism | FP | FP | TN | TN | TN |
chr9:34649046|AT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:158324425|AG ENST00000434258 | polymorphism | TN | TN | TN | TN | TN |
chr1:227173033|GA ENST00000366779 | disease_causing | TP | TP | TP | TP | TP |
chr17:48265474|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr6:90362783|AC ENST00000369393 | polymorphism | TN | TN | TN | TN | TN |
chr12:11149720|AG ENST00000538986 | polymorphism | TN | TN | TN | TN | TN |
chr7:143657473|AG ENST00000392899 | polymorphism | TN | TN | TN | FP | TN |
chr6:6225041|TC ENST00000264870 | disease_causing | TP | TP | TP | TP | TP |
chr5:41018452|AT ENST00000399564 | polymorphism | TN | TN | TN | TN | TN |
chr7:107720162|CA ENST00000414450 | polymorphism | TN | FP | FP | FP | TN |
chr16:88909153|AC ENST00000268695 | disease_causing | TP | TP | TP | TP | TP |
chr2:215910724|TG ENST00000272895 | polymorphism | TN | TN | TN | FP | TN |
chr2:218683154|AG ENST00000430930 | polymorphism | TN | TN | TN | TN | TN |
chr3:58064504|CT ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr1:94564484|GA ENST00000370225 | disease_causing | TP | TP | TP | TP | TP |
chr12:52308229|GA ENST00000388922 | disease_causing | TP | TP | TP | TP | TP |
chr1:6313938|CT ENST00000377893 | polymorphism | TN | TN | TN | TN | FP |
chr20:3063683|CT ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr9:34649508|AT ENST00000378842 | disease_causing | FN | FN | TP | TP | TP |
chr3:97510641|GC ENST00000463745 | disease_causing | TP | TP | TP | TP | TP |
chr19:1401328|TG ENST00000252288 | disease_causing | TP | TP | TP | TP | TP |
chr7:30640795|TC ENST00000389266 | disease_causing | TP | TP | TP | TP | TP |
chr10:123274794|TC ENST00000358487 | disease_causing | TP | TP | TP | TP | TP |
chr11:116706738|CG ENST00000375320 | disease_causing | TP | TP | TP | TP | FN |
chr17:48266129|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr20:3063785|CG ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr17:7293715|CT ENST00000535512 | polymorphism | TN | TN | TN | TN | TN |
chr2:49217768|GT ENST00000406846 | disease_causing | TP | TP | TP | TP | TP |
chr1:155205518|CG ENST00000368373 | disease_causing | FN | FN | TP | FN | TP |
chr7:43810764|GA ENST00000265523 | polymorphism | TN | TN | TN | TN | TN |
chr1:147380675|GA ENST00000369235 | disease_causing | TP | TP | TP | TP | TP |
chr11:61719303|GA ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr13:32968940|AT ENST00000380152 | disease_causing | TP | TP | TP | TP | TP |
chr17:43507008|GC ENST00000528273 | polymorphism | TN | TN | TN | TN | TN |
chr19:5866724|GA ENST00000252675 | polymorphism | TN | FP | TN | FP | TN |
chr17:39253969|TG ENST00000333822 | polymorphism | TN | TN | TN | TN | TN |
chr17:4858392|GA ENST00000323997 | disease_causing | TP | TP | TP | TP | TP |
chr13:20763234|TC ENST00000382848 | disease_causing | FN | TP | FN | FN | TP |
chr9:34648864|CG ENST00000378842 | disease_causing | FN | FN | FN | FN | TP |
chr11:61724901|TA ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr4:106317429|CG ENST00000432483 | polymorphism | TN | TN | FP | TN | TN |
chr6:132211575|AC ENST00000360971 | disease_causing | TP | TP | TP | TP | TP |
chr5:44310545|CT ENST00000264664 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648819|CA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:94546115|AC ENST00000370225 | disease_causing | TP | TP | TP | TP | TP |
chr4:100443782|TC ENST00000514652 | polymorphism | TN | TN | TN | TN | TN |
chr15:90294281|AC ENST00000300057 | polymorphism | TN | TN | TN | TN | TN |
chr1:110607217|GA ENST00000369792 | disease_causing | TP | TP | TP | TP | TP |
chr9:34647093|GC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr11:47256335|AG ENST00000256996 | disease_causing | TP | TP | TP | TP | TP |
chr18:13068132|TC ENST00000430049 | polymorphism | TN | TN | TN | TN | TN |
chr1:232574921|TC ENST00000308942 | polymorphism | TN | TN | TN | TN | TN |
chr11:71548544|AG ENST00000328698 | polymorphism | TN | TN | TN | TN | TN |
chr3:37574951|GA ENST00000264741 | polymorphism | TN | TN | FP | FP | FP |
chr9:114359624|CA ENST00000309195 | polymorphism | TN | TN | TN | TN | TN |
chr7:138764233|CT ENST00000464606 | polymorphism | TN | TN | TN | TN | TN |
chr2:71909727|CT ENST00000413539 | disease_causing | TP | TP | TP | TP | TP |
chr17:80086386|CT ENST00000392347 | polymorphism | TN | TN | TN | TN | TN |
chr10:124189197|AG ENST00000433307 | polymorphism | TN | TN | TN | TN | TN |
chr7:87035609|GA ENST00000359206 | disease_causing | TP | TP | TP | TP | TP |
chr14:54417117|CT ENST00000559087 | disease_causing | FN | FN | FN | FN | FN |
chr7:91630620|GT ENST00000356239 | polymorphism | TN | TN | TN | TN | TN |
chr3:122001008|GA ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr19:49539560|TC ENST00000391869 | polymorphism | TN | TN | TN | TN | TN |
chr22:36587223|GT ENST00000332987 | polymorphism | FP | FP | FP | TN | TN |
chr13:25458221|TA ENST00000381884 | disease_causing | TP | TP | TP | TP | TP |
chr5:73072354|TC ENST00000513042 | polymorphism | TN | TN | TN | TN | TN |
chr8:17919233|GT ENST00000262097 | disease_causing | TP | TP | TP | TP | TP |
chr9:117428|GC ENST00000382500 | polymorphism | TN | TN | TN | TN | TN |
chr22:31491295|GC ENST00000404574 | polymorphism | TN | TN | TN | TN | TN |
chr21:47570043|CG ENST00000291670 | disease_causing | TP | TP | TP | FN | TP |
chr11:71155082|GA ENST00000407721 | disease_causing | TP | TP | TP | TP | TP |
chr19:3728609|GA ENST00000587686 | polymorphism | FP | FP | TN | TN | FP |
chr7:137791367|CT ENST00000432161 | disease_causing | TP | TP | TP | FN | TP |
chr9:133327668|CT ENST00000352480 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648883|AG ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:147380213|TA ENST00000369235 | disease_causing | TP | TP | TP | TP | TP |
chr7:76140186|TC ENST00000419923 | polymorphism | TN | TN | TN | FP | TN |
chr2:231072709|CT ENST00000540870 | polymorphism | TN | TN | TN | TN | TN |
chr2:158617589|CT ENST00000263640 | disease_causing | TP | TP | TP | TP | TP |
chr6:32634306|AT ENST00000399079 | polymorphism | TN | TN | TN | TN | TN |
chr12:122186317|GA ENST00000449592 | polymorphism | TN | TN | TN | TN | FP |
chr7:44186186|CG ENST00000403799 | disease_causing | TP | TP | TP | TP | TP |
chr17:45008570|GA ENST00000575949 | polymorphism | TN | TN | TN | TN | TN |
chr3:186006618|GC ENST00000382164 | polymorphism | TN | TN | TN | TN | TN |
chr22:26695077|GT ENST00000529632 | polymorphism | TN | TN | TN | TN | TN |
chr17:48266281|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr10:99125949|CT ENST00000414986 | polymorphism | TN | FP | TN | TN | FP |
chr2:241815412|TG ENST00000307503 | disease_causing | TP | TP | FN | TP | FN |
chr3:93755507|CT ENST00000303097 | disease_causing | TP | TP | TP | TP | TP |
chr8:110491840|CG ENST00000378402 | polymorphism | TN | TN | TN | TN | TN |
chr17:79954544|TA ENST00000580534 | polymorphism | FP | FP | FP | TN | FP |
chr19:1401417|CG ENST00000252288 | disease_causing | TP | TP | TP | TP | TP |
chr14:51058302|CT ENST00000441560 | disease_causing | TP | TP | TP | TP | TP |
chr9:113234507|TC ENST00000401783 | polymorphism | TN | TN | TN | TN | TN |
chr4:84374480|CT ENST00000295488 | polymorphism | TN | TN | TN | TN | TN |
chr3:97510644|TG ENST00000463745 | disease_causing | TP | TP | TP | TP | TP |
chr9:140262426|CT ENST00000340951 | polymorphism | TN | TN | TN | TN | TN |
chr3:160803746|TG ENST00000320474 | disease_causing | TP | TP | TP | TP | TP |
chr17:63554591|GA ENST00000307078 | polymorphism | TN | TN | TN | TN | FP |
chr16:69988472|CT ENST00000449317 | polymorphism | FP | FP | FP | FP | FP |
chr5:96118852|GC ENST00000443439 | polymorphism | TN | TN | TN | TN | TN |
chr6:133105120|CT ENST00000275227 | polymorphism | TN | TN | TN | TN | TN |
chr2:25141538|AG ENST00000260600 | polymorphism | TN | TN | TN | TN | TN |
chr12:11338750|TC ENST00000334266 | polymorphism | TN | FP | TN | TN | TN |
chr15:86287867|GA ENST00000394518 | polymorphism | TN | TN | TN | TN | TN |
chr21:27269954|CG ENST00000346798 | disease_causing | FN | FN | FN | FN | TP |
chr20:44640225|AG ENST00000372330 | polymorphism | TN | TN | TN | TN | TN |
chr3:122003184|CT ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr11:116706735|AG ENST00000375320 | disease_causing | TP | TP | TP | TP | FN |
chr16:75513118|GT ENST00000332272 | disease_causing | TP | TP | TP | TP | TP |
chr15:43017748|GA ENST00000356231 | disease_causing | TP | TP | TP | FN | TP |
chr6:166721224|CG ENST00000322583 | polymorphism | TN | TN | TN | TN | TN |
chr2:241817503|TA ENST00000307503 | disease_causing | TP | TP | TP | TP | FN |
chr12:4488538|TC ENST00000237837 | disease_causing | TP | TP | TP | TP | TP |
chr12:110777443|TC ENST00000308664 | disease_causing | TP | TP | TP | TP | TP |
chr5:140222641|AG ENST00000531613 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647166|GT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr11:56380134|CG ENST00000526538 | polymorphism | FP | FP | TN | TN | TN |
chr22:40756440|AG ENST00000216194 | disease_causing | TP | TP | TP | TP | TP |
chr9:15784631|AG ENST00000380701 | polymorphism | TN | TN | TN | TN | TN |
chr3:191097966|TC ENST00000392456 | polymorphism | TN | TN | TN | TN | TN |
chr7:30951637|CT ENST00000311813 | disease_causing | TP | TP | FN | TP | TP |
chr4:122775945|GA ENST00000264499 | disease_causing | TP | TP | TP | TP | TP |
chr10:64974537|AT ENST00000399262 | polymorphism | TN | TN | TN | FP | TN |
chr18:613202|AG ENST00000540035 | polymorphism | TN | TN | TN | TN | TN |
chr21:43531403|CG ENST00000408989 | polymorphism | TN | TN | TN | TN | TN |
chr17:46629593|GT ENST00000311626 | polymorphism | TN | TN | TN | TN | FP |
chr20:25187213|GA ENST00000360031 | polymorphism | TN | TN | TN | TN | TN |
chr4:186380846|AT ENST00000307588 | polymorphism | TN | TN | TN | TN | TN |
chr1:147380224|GA ENST00000369235 | disease_causing | TP | TP | TP | TP | TP |
chr4:71232388|GA ENST00000226460 | polymorphism | TN | TN | FP | TN | TN |
chr6:116441487|AC ENST00000327673 | disease_causing | TP | TP | TP | TP | TP |
chr2:241815420|AG ENST00000307503 | disease_causing | FN | FN | FN | TP | TP |
chr3:122002611|GA ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr9:33941759|TC ENST00000379225 | polymorphism | TN | TN | TN | TN | TN |
chr14:64519455|AG ENST00000344113 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648367|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr8:20036713|AG ENST00000265808 | polymorphism | TN | TN | TN | TN | TN |
chr15:40751555|CA ENST00000561234 | polymorphism | TN | TN | TN | FP | TN |
chr1:94884084|GA ENST00000370214 | disease_causing | TP | TP | FN | TP | TP |
chr2:74185328|GT ENST00000264093 | disease_causing | TP | TP | TP | TP | TP |
chr1:21887155|CT ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr19:55329854|GA ENST00000538269 | polymorphism | TN | TN | TN | TN | TN |
chr8:17796382|AG ENST00000518537 | polymorphism | TN | TN | TN | TN | TN |
chr14:77793207|GA ENST00000349555 | polymorphism | FP | FP | FP | FP | FP |
chr3:75790516|TA ENST00000477374 | polymorphism | TN | FP | FP | FP | TN |
chr1:153941514|CT ENST00000271889 | polymorphism | FP | FP | FP | FP | FP |
chr12:58025813|GC ENST00000552350 | polymorphism | TN | TN | TN | TN | TN |
chr5:31515657|GA ENST00000511367 | polymorphism | TN | TN | TN | FP | TN |
chr19:868115|CT ENST00000325464 | polymorphism | TN | TN | TN | TN | TN |
chr1:152193286|GT ENST00000368801 | polymorphism | TN | TN | TN | TN | TN |
chr11:61723364|GA ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr11:77823770|CT ENST00000299626 | disease_causing | TP | TP | TP | TP | TP |
chr2:241808421|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr18:66513615|AG ENST00000360242 | polymorphism | TN | FP | TN | TN | TN |
chr5:70751818|TG ENST00000358731 | polymorphism | TN | TN | TN | TN | TN |
chr6:74497152|GA ENST00000422508 | polymorphism | TN | TN | TN | TN | TN |
chr19:40384654|CT ENST00000221347 | polymorphism | TN | TN | TN | TN | TN |
chr13:40229957|TA ENST00000416691 | polymorphism | TN | TN | TN | TN | TN |
chr5:176017639|CA ENST00000261944 | polymorphism | FP | FP | TN | FP | TN |
chr2:233674441|CG ENST00000373563 | disease_causing | TP | TP | FN | TP | TP |
chr14:88407888|AG ENST00000393568 | polymorphism | TN | FP | FP | FP | TN |
chr5:75932965|GC ENST00000502745 | polymorphism | TN | TN | TN | TN | TN |
chr20:43254242|CT ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr7:31013727|TG ENST00000326139 | disease_causing | TP | TP | TP | TP | TP |
chr1:116310967|TC ENST00000261448 | polymorphism | TN | TN | TN | TN | TN |
chr1:154561144|AG ENST00000368474 | disease_causing | TP | TP | TP | TP | TP |
chr3:9871030|TG ENST00000397256 | polymorphism | TN | TN | TN | TN | TN |
chr7:140501302|TC ENST00000288602 | disease_causing | TP | TP | FN | TP | TP |
chr3:183858390|AG ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr19:731144|AG ENST00000264560 | polymorphism | TN | TN | TN | TN | TN |
chr2:215851287|CT ENST00000272895 | disease_causing | TP | TP | TP | TP | TP |
chr6:29910358|CG ENST00000396634 | polymorphism | TN | TN | TN | TN | TN |
chr7:44190647|AG ENST00000403799 | disease_causing | TP | TP | TP | TP | TP |
chr1:55318045|TG ENST00000371269 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648416|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr9:34646728|GC ENST00000378842 | disease_causing | FN | FN | FN | TP | FN |
chr12:48151822|CG ENST00000389212 | polymorphism | TN | TN | TN | TN | TN |
chr19:45871913|CT ENST00000391945 | disease_causing | TP | TP | TP | TP | TP |
chr14:51080061|CT ENST00000441560 | disease_causing | FN | TP | TP | TP | TP |
chr3:121976116|TC ENST00000490131 | disease_causing | TP | TP | FN | TP | TP |
chr2:241817452|CT ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr2:215846949|CT ENST00000272895 | disease_causing | TP | TP | TP | TP | TP |
chr1:160105036|GA ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr1:162746131|CT ENST00000367922 | disease_causing | TP | TP | TP | TP | TP |
chr17:7592168|CG ENST00000534050 | polymorphism | TN | TN | TN | TN | TN |
chr16:30936081|GA ENST00000380310 | polymorphism | TN | TN | TN | TN | TN |
chr6:116441438|AG ENST00000327673 | disease_causing | TP | TP | TP | TP | TP |
chr19:13008638|CT ENST00000222214 | disease_causing | TP | TP | TP | TP | TP |
chr17:42398052|AG ENST00000590194 | polymorphism | TN | TN | TN | TN | TN |
chr3:52861211|AT ENST00000485816 | polymorphism | FP | FP | FP | TN | FP |
chr2:108479487|AT ENST00000354986 | polymorphism | FP | FP | FP | FP | TN |
chr1:92327045|GA ENST00000525962 | polymorphism | TN | TN | TN | TN | TN |
chr11:85436500|TC ENST00000525423 | polymorphism | TN | TN | TN | TN | TN |
chr12:52309891|CT ENST00000388922 | disease_causing | TP | TP | TP | TP | TP |
chr6:42906384|GT ENST00000372836 | polymorphism | TN | FP | TN | TN | FP |
chr10:26463043|AT ENST00000265944 | polymorphism | TN | TN | TN | TN | TN |
chr3:121838319|GA ENST00000330540 | polymorphism | TN | TN | TN | TN | TN |
chr12:52314615|CT ENST00000388922 | disease_causing | TP | TP | TP | TP | TP |
chr3:133169276|CT ENST00000302334 | disease_causing | TP | TP | TP | TP | TP |
chr3:183855762|CT ENST00000273783 | disease_causing | TP | TP | TP | TP | TP |
chr11:6550004|AG ENST00000254579 | polymorphism | TN | TN | TN | TN | TN |
chr18:46906063|CT ENST00000269445 | disease_causing | TP | TP | TP | TP | TP |
chr12:8757494|AG ENST00000229335 | disease_causing | TP | TP | TP | TP | TP |
chr11:618998|GA ENST00000358353 | polymorphism | TN | TN | TN | TN | TN |
chr18:12337417|CT ENST00000269143 | disease_causing | TP | TP | TP | TP | TP |
chr17:39137297|CT ENST00000398486 | polymorphism | TN | TN | TN | TN | TN |
chr12:52309898|TG ENST00000388922 | disease_causing | TP | TP | TP | TP | TP |
chr1:161068836|AC ENST00000368011 | polymorphism | TN | TN | TN | TN | TN |
chr19:5831672|GC ENST00000592563 | polymorphism | TN | TN | TN | TN | TN |
chr15:40512842|TC ENST00000287598 | disease_causing | TP | TP | TP | TP | TP |
chr12:121176971|CT ENST00000242592 | disease_causing | TP | TP | TP | TP | TP |
chr5:90052289|GA ENST00000405460 | polymorphism | TN | TN | TN | TN | TN |
chr14:21161912|CG ENST00000336811 | disease_causing | TP | TP | TP | TP | TP |
chr9:133364851|GA ENST00000352480 | disease_causing | TP | TP | TP | TP | TP |
chr19:6896483|GA ENST00000312053 | polymorphism | TN | TN | TN | TN | TN |
chr19:46268902|CT ENST00000317578 | polymorphism | TN | FP | TN | FP | TN |
chr14:105617042|CT ENST00000331782 | polymorphism | TN | TN | TN | TN | TN |
chr7:74212311|GT ENST00000405086 | polymorphism | TN | TN | TN | TN | TN |
chr10:124742895|GC ENST00000368887 | polymorphism | TN | TN | TN | TN | TN |
chr12:121174897|CT ENST00000242592 | disease_causing | TP | TP | TP | TP | TP |
chr2:219527343|GA ENST00000359273 | disease_causing | TP | TP | FN | TP | TP |
chr1:55464894|TC ENST00000371265 | disease_causing | TP | TP | TP | TP | TP |
chr18:28611061|AT ENST00000360428 | polymorphism | TN | TN | TN | TN | TN |
chr14:33291494|CT ENST00000280979 | polymorphism | TN | TN | TN | TN | TN |
chr9:34647103|TA ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:179051300|TC ENST00000367627 | polymorphism | TN | TN | TN | TN | TN |
chr3:122354792|GA ENST00000310366 | polymorphism | FP | FP | FP | FP | FP |
chr4:186111639|TC ENST00000514798 | polymorphism | TN | TN | TN | TN | TN |
chr3:81695554|AT ENST00000429644 | disease_causing | TP | TP | TP | TP | TP |
chr19:55143157|GA ENST00000324602 | polymorphism | FP | FP | TN | TN | TN |
chr3:111304209|CT ENST00000352690 | disease_causing | FN | FN | FN | FN | FN |
chr9:34647864|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr20:43251680|CT ENST00000372874 | disease_causing | TP | TP | TP | TP | TP |
chr1:20020994|CT ENST00000294543 | polymorphism | TN | TN | TN | TN | TN |
chr4:80977150|CT ENST00000403729 | disease_causing | TP | TP | TP | TP | TP |
chr6:32632637|TG ENST00000399079 | polymorphism | TN | TN | FP | TN | TN |
chr5:127671236|CT ENST00000508053 | disease_causing | TP | TP | TP | TP | TP |
chr17:34588288|AT ENST00000451448 | polymorphism | TN | TN | TN | TN | TN |
chr8:75276240|CT ENST00000220822 | disease_causing | TP | TP | TP | TP | TP |
chr2:49190705|CT ENST00000406846 | disease_causing | TP | TP | TP | TP | TP |
chr8:27328511|GA ENST00000240132 | polymorphism | TN | TN | TN | TN | TN |
chr5:148206473|GC ENST00000305988 | polymorphism | TN | TN | TN | TN | TN |
chr3:182853670|TC ENST00000265598 | polymorphism | TN | TN | TN | TN | FP |
chr12:9303296|AT ENST00000381997 | polymorphism | TN | FP | FP | TN | TN |
chr3:57475351|TG ENST00000351747 | polymorphism | TN | TN | TN | TN | TN |
chr6:116973182|TC ENST00000368576 | polymorphism | TN | TN | TN | TN | TN |
chr3:138665005|CT ENST00000330315 | disease_causing | TP | TP | FN | TP | TP |
chr2:241814576|TC ENST00000307503 | disease_causing | FN | FN | TP | TP | FN |
chr3:58121809|TA ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr2:70188676|TC ENST00000320256 | polymorphism | TN | TN | TN | TN | TN |
chr17:73567846|CT ENST00000167462 | polymorphism | TN | TN | TN | TN | FP |
chr2:71797834|GA ENST00000413539 | disease_causing | TP | TP | TP | TP | TP |
chr4:1803657|AT ENST00000481110 | disease_causing | TP | TP | TP | TP | TP |
chr4:1806092|AT ENST00000481110 | disease_causing | TP | TP | FN | TP | TP |
chr2:11702661|AC ENST00000381486 | polymorphism | TN | TN | TN | TN | TN |
chr6:145948713|CT ENST00000367519 | disease_causing | TP | TP | TP | TP | TP |
chr3:186301703|AG ENST00000265028 | polymorphism | FP | FP | TN | TN | FP |
chr2:74699778|CA ENST00000258105 | polymorphism | TN | TN | TN | TN | TN |
chr7:139026152|TG ENST00000297534 | polymorphism | TN | TN | TN | TN | TN |
chr16:8729124|GA ENST00000381920 | polymorphism | TN | TN | TN | TN | TN |
chr15:45402093|GA ENST00000389039 | disease_causing | TP | TP | TP | TP | TP |
chr6:54002231|AC ENST00000514921 | polymorphism | TN | TN | TN | TN | TN |
chr6:29911271|GC ENST00000376806 | polymorphism | TN | TN | TN | TN | TN |
chr11:85436352|GA ENST00000525423 | polymorphism | TN | TN | TN | FP | TN |
chr8:17933068|TC ENST00000262097 | disease_causing | TP | TP | TP | TP | TP |
chr15:89400023|AG ENST00000439576 | polymorphism | TN | TN | TN | TN | TN |
chr8:143425720|TC ENST00000524325 | polymorphism | TN | TN | TN | TN | TN |
chr6:121577370|TC ENST00000398212 | polymorphism | TN | TN | TN | TN | TN |
chr12:52986187|TC ENST00000537672 | polymorphism | TN | TN | FP | FP | TN |
chr3:9991163|AG ENST00000412055 | polymorphism | TN | TN | TN | TN | TN |
chr2:241816972|CT ENST00000307503 | disease_causing | FN | TP | TP | TP | TP |
chr1:152882982|CG ENST00000368764 | polymorphism | TN | TN | TN | TN | TN |
chr14:54416940|GA ENST00000559087 | disease_causing | TP | TP | TP | TP | TP |
chr6:147136212|AT ENST00000397944 | polymorphism | FP | FP | TN | TN | TN |
chr2:219903258|TG ENST00000441968 | polymorphism | TN | TN | TN | TN | TN |
chr5:434722|GC ENST00000505113 | polymorphism | TN | TN | TN | TN | TN |
chr12:2614098|GA ENST00000399629 | disease_causing | TP | TP | TP | TP | TP |
chr19:38055612|AT ENST00000451802 | polymorphism | FP | FP | FP | FP | TN |
chr6:32333955|TC ENST00000447241 | polymorphism | TN | TN | TN | TN | TN |
chr13:52535985|AC ENST00000242839 | disease_causing | FN | FN | FN | FN | FN |
chr16:19297219|TG ENST00000493231 | polymorphism | TN | TN | TN | TN | TN |
chr1:26694260|TC ENST00000403843 | polymorphism | FP | FP | FP | FP | TN |
chr18:12337504|CT ENST00000269143 | disease_causing | TP | TP | TP | TP | TP |
chr2:233392148|TA ENST00000258385 | disease_causing | TP | FN | TP | TP | TP |
chr2:49190261|CT ENST00000406846 | disease_causing | TP | TP | TP | TP | TP |
chr8:97614661|TA ENST00000302190 | polymorphism | TN | FP | TN | TN | FP |
chr10:18828274|CT ENST00000324631 | disease_causing | FN | FN | FN | FN | TP |
chr3:10302172|GA ENST00000448281 | polymorphism | TN | TN | TN | TN | TN |
chr12:121176662|CT ENST00000242592 | disease_causing | TP | TP | TP | TP | TP |
chr19:45860626|GC ENST00000391945 | disease_causing | TP | TP | FN | TP | TP |
chr9:34648768|GC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr17:72308319|GA ENST00000446837 | polymorphism | TN | TN | TN | TN | TN |
chr11:59224885|GC ENST00000300127 | polymorphism | TN | TN | TN | FP | TN |
chr1:196759282|CT ENST00000367425 | polymorphism | TN | TN | TN | TN | TN |
chr2:241814602|TC ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr1:21900274|TC ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr9:133333869|CT ENST00000352480 | disease_causing | FN | FN | TP | FN | TP |
chr3:126261207|CT ENST00000319340 | polymorphism | FP | FP | TN | TN | FP |
chr9:130635058|CT ENST00000373176 | disease_causing | TP | TP | TP | TP | TP |
chr6:116950734|GA ENST00000229554 | polymorphism | TN | FP | FP | FP | FP |
chr9:97365829|GC ENST00000415431 | disease_causing | TP | TP | TP | TP | TP |
chr17:33768354|CT ENST00000534689 | polymorphism | TN | TN | TN | TN | TN |
chr9:34648433|CA ENST00000378842 | disease_causing | FN | FN | FN | TP | FN |
chr19:51170706|AG ENST00000293441 | polymorphism | TN | TN | TN | TN | TN |
chr6:160113872|AG ENST00000538183 | polymorphism | TN | TN | TN | TN | TN |
chr19:54723738|GC ENST00000407860 | polymorphism | TN | TN | TN | TN | TN |
chr13:32953937|GA ENST00000380152 | disease_causing | TP | TP | FN | TP | TP |
chr17:3486702|GA ENST00000571088 | polymorphism | TN | TN | FP | FP | TN |
chr7:44186137|AT ENST00000403799 | disease_causing | TP | TP | TP | TP | TP |
chr16:90141355|AC ENST00000449207 | polymorphism | FP | FP | FP | TN | TN |
chr19:39200926|AG ENST00000252699 | disease_causing | TP | TP | TP | TP | TP |
chr10:101595950|AT ENST00000370449 | disease_causing | TP | TP | TP | TP | TP |
chr6:33036435|TG ENST00000428995 | polymorphism | TN | TN | TN | TN | TN |
chr9:133374932|GA ENST00000352480 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648446|TC ENST00000378842 | disease_causing | FN | FN | FN | FN | TP |
chr16:81388140|GA ENST00000248272 | disease_causing | TP | TP | TP | TP | TP |
chr9:107361642|GA ENST00000374779 | polymorphism | FP | FP | FP | FP | TN |
chr17:48272460|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr6:32725619|TC ENST00000435145 | polymorphism | TN | TN | TN | TN | TN |
chr1:76226985|TC ENST00000370841 | disease_causing | TP | TP | TP | TP | TP |
chr12:110780240|GA ENST00000308664 | disease_causing | TP | TP | TP | TP | TP |
chr17:48265916|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr14:21161830|AT ENST00000336811 | disease_causing | TP | TP | TP | TP | FN |
chr10:105812830|CT ENST00000353479 | disease_causing | TP | TP | TP | TP | TP |
chr9:34648856|GC ENST00000378842 | disease_causing | FN | FN | FN | FN | FN |
chr3:124732618|AG ENST00000311127 | polymorphism | TN | TN | TN | TN | TN |
chr22:43024175|AG ENST00000352397 | disease_causing | TP | TP | TP | TP | TP |
chr5:78264918|CA ENST00000264914 | disease_causing | TP | TP | TP | TP | TP |
chr12:27234999|TC ENST00000429849 | polymorphism | TN | TN | TN | TN | TN |
chr18:56205262|AC ENST00000361673 | polymorphism | TN | TN | TN | TN | TN |
chr2:74184339|GA ENST00000264093 | disease_causing | TP | TP | TP | TP | TP |
chr1:160098457|AG ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr15:48777615|CT ENST00000316623 | disease_causing | TP | TP | TP | TP | TP |
chr12:110341933|AG ENST00000405876 | polymorphism | TN | TN | TN | TN | TN |
chr18:55217985|AC ENST00000262093 | disease_causing | TP | TP | TP | TP | TP |
chr13:110959356|CG ENST00000397198 | polymorphism | TN | TN | TN | TN | TN |
chr1:169521931|AG ENST00000367797 | disease_causing | TP | TP | TP | TP | TP |
chr4:155491615|GA ENST00000302068 | disease_causing | TP | TP | TP | TP | TP |
chr7:44189362|CT ENST00000403799 | disease_causing | TP | TP | FN | TP | TP |
chr2:219526006|CT ENST00000359273 | disease_causing | TP | TP | TP | TP | TP |
chr19:4200156|GA ENST00000318934 | polymorphism | TN | TN | TN | TN | TN |
chr18:33725931|GA ENST00000351393 | polymorphism | TN | TN | TN | TN | TN |
chr13:20797606|GA ENST00000241124 | disease_causing | TP | TP | FN | FN | FN |
chr2:231902471|CG ENST00000373640 | polymorphism | TN | TN | TN | TN | TN |
chr15:86124483|CG ENST00000394518 | polymorphism | TN | TN | TN | TN | TN |
chr6:32609105|GA ENST00000395364 | polymorphism | TN | TN | TN | TN | TN |
chr2:225368508|TC ENST00000264414 | disease_causing | TP | TP | TP | TP | TP |
chr11:71498601|GT ENST00000346333 | polymorphism | FP | FP | TN | TN | TN |
chr16:88552370|AG ENST00000319555 | polymorphism | TN | TN | TN | TN | TN |
chr17:3402186|AT ENST00000456349 | disease_causing | TP | TP | TP | TP | TP |
chr12:10782115|TC ENST0000075503 | polymorphism | TN | TN | TN | TN | TN |
chr1:160105260|GA ENST00000361216 | disease_causing | TP | TP | TP | TP | TP |
chr19:41928214|CG ENST00000269980 | disease_causing | TP | TP | TP | TP | TP |
chr11:68560804|GC ENST00000540367 | disease_causing | TP | TP | TP | TP | TP |
chr4:103611845|CT ENST00000505239 | polymorphism | TN | TN | TN | TN | TN |
chr15:43724646|TG ENST00000263801 | polymorphism | TN | TN | TN | TN | TN |
chr1:222886119|AG ENST00000541237 | polymorphism | TN | TN | TN | TN | TN |
chr6:31238010|TG ENST00000396254 | polymorphism | TN | TN | TN | TN | TN |
chr3:58067416|CG ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr19:464310|AG ENST00000315489 | polymorphism | TN | TN | TN | TN | TN |
chr6:31238029|TC ENST00000396254 | polymorphism | TN | TN | TN | TN | TN |
chr5:44305257|AC ENST00000264664 | disease_causing | TP | TP | TP | TP | TP |
chr7:44184770|CT ENST00000403799 | disease_causing | FN | FN | TP | TP | TP |
chr8:11995062|GA ENST00000333796 | polymorphism | TN | TN | TN | TN | TN |
chr20:1426393|CT ENST00000216879 | polymorphism | TN | TN | FP | TN | FP |
chr9:116151365|CT ENST00000409155 | disease_causing | TP | TP | FN | TP | TP |
chr3:58064510|AC ENST00000348383 | disease_causing | TP | TP | TP | TP | TP |
chr17:41244000|TC ENST00000346315 | polymorphism | TN | TN | TN | TN | TN |
chr9:97369221|AG ENST00000375326 | disease_causing | TP | TP | TP | TP | TP |
chr9:35870001|TC ENST00000377981 | polymorphism | TN | TN | TN | FP | TN |
chr6:31473561|AG ENST00000538442 | polymorphism | TN | TN | TN | TN | TN |
chr9:107593329|CG ENST00000374736 | disease_causing | TP | TP | TP | TP | TP |
chr1:226555302|AG ENST00000366794 | polymorphism | FP | FP | TN | TN | FP |
chr7:129855837|CT ENST00000297819 | polymorphism | TN | TN | FP | TN | TN |
chr17:6330004|AG ENST00000381129 | disease_causing | TP | TP | TP | TP | TP |
chr1:66036441|AG ENST00000371060 | polymorphism | TN | TN | TN | TN | TN |
chr13:20763294|GA ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr1:21887620|GC ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr2:241808704|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr11:67258382|GA ENST00000279146 | disease_causing | FN | FN | FN | TP | TP |
chr10:17024503|GA ENST00000377833 | polymorphism | TN | TN | TN | TN | TN |
chr3:121980771|GA ENST00000490131 | disease_causing | TP | TP | TP | TP | TP |
chr4:57180473|CA ENST00000541073 | polymorphism | TN | FP | TN | TN | TN |
chr9:136319562|TG ENST00000371929 | disease_causing | TP | TP | TP | TP | TP |
chr17:48268751|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr6:31118511|TG ENST00000376266 | polymorphism | TN | TN | TN | TN | TN |
chr6:33037522|TC ENST00000428995 | polymorphism | TN | TN | TN | TN | TN |
chr20:34021900|CA ENST00000374369 | disease_causing | TP | TP | TP | TP | TP |
chr20:62715548|CA ENST00000308906 | polymorphism | FP | FP | TN | FP | TN |
chr5:122718736|GC ENST00000328236 | polymorphism | FP | FP | TN | FP | FP |
chr2:170344321|GA ENST00000295240 | disease_causing | TP | TP | TP | TP | TP |
chr8:121061879|GA ENST00000523492 | polymorphism | TN | TN | TN | TN | FP |
chr1:21890546|GT ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr17:72350412|GA ENST00000389916 | polymorphism | TN | TN | TN | TN | TN |
chr14:39818028|AG ENST00000396158 | polymorphism | TN | TN | TN | TN | TN |
chr11:20404613|TG ENST00000419348 | polymorphism | TN | TN | TN | TN | TN |
chr3:43732503|GA ENST00000458276 | disease_causing | FN | FN | FN | FN | FN |
chr3:183963586|AG ENST00000397676 | disease_causing | TP | TP | TP | TP | TP |
chr5:79030212|CT ENST00000446378 | polymorphism | TN | TN | TN | TN | TN |
chr17:56492800|TC ENST00000583753 | polymorphism | TN | TN | TN | TN | TN |
chr1:100598866|GA ENST00000370143 | polymorphism | TN | TN | TN | TN | TN |
chr21:47836206|AC ENST00000359568 | polymorphism | TN | TN | TN | TN | TN |
chr9:116151801|GA ENST00000409155 | disease_causing | TP | TP | TP | TP | TP |
chr16:2376028|AG ENST00000301732 | disease_causing | TP | TP | TP | TP | FN |
chr15:85448875|CA ENST00000394573 | polymorphism | FP | FP | FP | TN | FP |
chr6:25776949|GA ENST00000397076 | polymorphism | TN | TN | TN | TN | TN |
chr16:71660310|GA ENST00000268485 | polymorphism | TN | TN | TN | TN | TN |
chr19:19136541|CT ENST00000337018 | polymorphism | TN | TN | TN | TN | TN |
chr19:38189440|TC ENST00000355202 | polymorphism | TN | FP | FP | TN | TN |
chr17:48273524|CT ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr20:61981924|GA ENST00000370263 | disease_causing | TP | TP | TP | TP | TP |
chr6:30458064|GA ENST00000376630 | polymorphism | TN | FP | FP | TN | TN |
chr17:33690466|CA ENST00000308377 | polymorphism | TN | TN | TN | TN | TN |
chr17:7126518|AC ENST00000543245 | disease_causing | TP | TP | TP | TP | TP |
chr11:103048369|AG ENST00000375735 | disease_causing | TP | TP | TP | TP | TP |
chr1:152283283|CT ENST00000368799 | polymorphism | TN | TN | TN | TN | TN |
chr3:195501149|CT ENST00000349607 | polymorphism | TN | TN | TN | TN | TN |
chr8:11996086|GA ENST00000333796 | polymorphism | TN | TN | FP | FP | FP |
chr16:81129822|GA ENST00000315467 | polymorphism | TN | TN | TN | TN | TN |
chr14:94931105|AG ENST00000298845 | polymorphism | TN | TN | TN | TN | TN |
chr1:248722332|AG ENST00000328570 | polymorphism | FP | FP | FP | FP | TN |
chr16:28617514|CT ENST00000569554 | polymorphism | TN | TN | FP | TN | TN |
chr11:108004987|AG ENST00000265838 | disease_causing | FN | FN | TP | TP | TP |
chr11:59611471|GA ENST00000257248 | disease_causing | TP | TP | TP | TP | TP |
chr6:46827073|AG ENST00000456426 | polymorphism | TN | TN | TN | TN | TN |
chr17:7579472|GC ENST00000269305 | polymorphism | TN | TN | TN | TN | TN |
chr3:140178485|GA ENST00000458420 | polymorphism | TN | TN | TN | TN | TN |
chr16:2349443|TC ENST00000301732 | disease_causing | TP | TP | TP | TP | TP |
chr4:1807803|GA ENST00000481110 | disease_causing | TP | TP | TP | TP | TP |
chr20:61981912|GA ENST00000370263 | disease_causing | TP | TP | TP | TP | TP |
chr3:49456475|CT ENST00000458307 | disease_causing | TP | TP | TP | TP | TP |
chr6:112493872|AG ENST00000424408 | polymorphism | TN | TN | TN | TN | TN |
chr20:30449325|CG ENST00000486996 | polymorphism | TN | TN | TN | TN | TN |
chr17:48271366|CG ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr16:88713181|CT ENST00000261623 | disease_causing | TP | TP | TP | TP | TP |
chr11:27679916|CT ENST00000533246 | polymorphism | FP | FP | TN | FP | FP |
chr14:95053863|CT ENST00000553780 | polymorphism | TN | FP | TN | TN | TN |
chr19:42474557|CA ENST00000302102 | disease_causing | TP | TP | TP | TP | TP |
chr1:108307727|TA ENST00000527011 | polymorphism | TN | TN | TN | TN | FP |
chr19:55512232|CA ENST00000339757 | polymorphism | TN | TN | TN | TN | TN |
chr21:32638550|CT ENST00000541036 | polymorphism | TN | FP | TN | FP | FP |
chr21:38525356|TC ENST00000540756 | polymorphism | TN | TN | TN | TN | TN |
chr21:40670460|GC ENST00000333229 | polymorphism | TN | TN | TN | TN | TN |
chr3:98304475|GA ENST00000264193 | disease_causing | TP | TP | TP | TP | TP |
chr11:61723198|GA ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr12:88535064|CA ENST00000552810 | disease_causing | TP | TP | TP | TP | TP |
chr6:146056541|AC ENST00000367519 | disease_causing | TP | TP | TP | TP | TP |
chr10:43319197|GA ENST00000374518 | polymorphism | TN | TN | TN | TN | TN |
chr9:139275294|GC ENST00000298532 | polymorphism | TN | TN | TN | TN | TN |
chr20:1115919|AG ENST00000335877 | polymorphism | TN | TN | TN | TN | TN |
chr21:27264104|GA ENST00000346798 | disease_causing | TP | TP | TP | FN | TP |
chr1:149906413|TC ENST00000439741 | polymorphism | TN | TN | TN | TN | TN |
chr6:16145325|AG ENST00000356840 | polymorphism | TN | TN | TN | TN | TN |
chr2:71185233|GA ENST00000234396 | disease_causing | TP | TP | TP | TP | TP |
chr11:61723195|TC ENST00000378043 | disease_causing | TP | TP | TP | TP | TP |
chr19:4217510|AT ENST00000318934 | polymorphism | TN | TN | TN | TN | TN |
chr9:34649482|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:39340282|CT ENST00000360786 | polymorphism | TN | TN | TN | TN | TN |
chr10:123276865|GC ENST00000358487 | disease_causing | TP | TP | TP | TP | TP |
chr11:88027526|TC ENST00000227266 | disease_causing | TP | TP | TP | TP | TP |
chr1:35250397|GC ENST00000373366 | disease_causing | TP | TP | TP | TP | TP |
chr6:121768058|GA ENST00000282561 | disease_causing | TP | TP | TP | TP | TP |
chr12:8757921|AG ENST00000229335 | disease_causing | TP | TP | TP | TP | TP |
chr18:57136800|CG ENST00000439986 | disease_causing | TP | TP | TP | TP | TP |
chr3:58062982|GA ENST00000295956 | disease_causing | TP | TP | TP | TP | TP |
chr2:241813445|GA ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr20:47872377|CG ENST00000371752 | polymorphism | TN | TN | TN | TN | TN |
chr1:152281479|GT ENST00000368799 | polymorphism | TN | TN | TN | TN | TN |
chr20:43254222|GA ENST00000372874 | disease_causing | TP | TP | TP | FN | TP |
chr7:94039741|GT ENST00000297268 | disease_causing | TP | TP | TP | TP | TP |
chr20:5933108|CA ENST00000378886 | polymorphism | TN | TN | TN | TN | TN |
chr22:44083442|TC ENST00000262726 | polymorphism | TN | TN | TN | TN | TN |
chr2:49190614|GA ENST00000406846 | disease_causing | TP | TP | TP | TP | TP |
chr19:54726347|TA ENST00000424807 | polymorphism | TN | TN | TN | TN | TN |
chr17:7127303|GA ENST00000543245 | disease_causing | TP | TP | TP | TP | TP |
chr19:51919949|GA ENST00000356298 | polymorphism | TN | TN | TN | TN | TN |
chr3:121973177|AC ENST00000490131 | disease_causing | TP | TP | FN | FN | TP |
chr4:3215835|TC ENST00000355072 | polymorphism | TN | TN | TN | TN | TN |
chr1:76199288|CT ENST00000370841 | disease_causing | FN | TP | TP | TP | TP |
chr8:17739538|TC ENST00000522444 | polymorphism | TN | TN | TN | TN | TN |
chr17:48266269|GA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr13:20763587|CT ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr11:108205715|AG ENST00000452508 | disease_causing | TP | TP | TP | TP | TP |
chr12:50348455|GA ENST00000199280 | disease_causing | FN | FN | FN | TP | FN |
chr2:233393011|TC ENST00000258385 | disease_causing | TP | TP | TP | TP | TP |
chr13:102379135|AG ENST00000376131 | disease_causing | TP | TP | TP | TP | TP |
chr19:43420451|GC ENST00000187910 | polymorphism | TN | TN | TN | TN | TN |
chr2:219602499|GC ENST00000442769 | polymorphism | TN | FP | TN | TN | TN |
chr20:56098733|TC ENST00000243914 | polymorphism | TN | TN | TN | TN | TN |
chr19:58004931|AG ENST00000442920 | polymorphism | TN | TN | TN | TN | TN |
chr1:16458722|CT ENST00000358432 | disease_causing | TP | TP | TP | FN | TP |
chr9:34647903|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | FN |
chr11:113194168|AC ENST00000314756 | polymorphism | TN | TN | TN | TN | TN |
chr8:145001031|TC ENST00000356346 | polymorphism | TN | TN | TN | TN | TN |
chr10:27317840|CT ENST00000436985 | polymorphism | TN | TN | TN | TN | TN |
chr20:3063745|AG ENST00000380293 | disease_causing | FN | TP | TP | TP | FN |
chr6:121769078|GA ENST00000282561 | disease_causing | TP | TP | FN | FN | TP |
chr1:26786627|GA ENST00000525682 | polymorphism | TN | TN | TN | TN | TN |
chr5:60982841|GA ENST00000313303 | polymorphism | TN | TN | TN | TN | TN |
chr14:95080803|GA ENST00000467132 | polymorphism | TN | TN | FP | TN | TN |
chr20:5753579|CT ENST00000303142 | polymorphism | TN | TN | TN | TN | TN |
chr3:172165593|GT ENST00000241256 | disease_causing | TP | TP | TP | TP | TP |
chr2:85622059|TC ENST00000409921 | polymorphism | TN | TN | TN | TN | TN |
chr1:21889651|GA ENST00000374840 | disease_causing | TP | TP | TP | TP | TP |
chr17:48275128|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr14:55312517|GC ENST00000543643 | disease_causing | TP | TP | TP | FN | TP |
chr17:76817090|CT ENST00000542802 | polymorphism | TN | TN | TN | TN | TN |
chr6:71238105|AG ENST00000418814 | polymorphism | TN | TN | FP | FP | FP |
chr15:42693953|GA ENST00000357568 | disease_causing | TP | TP | TP | TP | TP |
chr8:114186003|TC ENST00000455883 | polymorphism | TN | FP | TN | TN | TN |
chr1:16380243|AG ENST00000375679 | polymorphism | TN | TN | TN | TN | TN |
chr1:35250398|GA ENST00000373366 | disease_causing | TP | TP | TP | TP | TP |
chr19:8670523|CT ENST00000270328 | disease_causing | FN | TP | FN | FN | FN |
chr2:28761981|GC ENST00000327757 | polymorphism | FP | FP | TN | FP | FP |
chr20:41818289|CG ENST00000373187 | polymorphism | TN | TN | TN | FP | TN |
chr2:220285661|GC ENST00000373960 | disease_causing | TP | TP | TP | TP | TP |
chr17:4802804|GA ENST00000293780 | disease_causing | TP | TP | TP | TP | TP |
chr20:34021891|AG ENST00000374369 | disease_causing | TP | TP | TP | TP | TP |
chr9:32984782|GA ENST00000379825 | disease_causing | TP | TP | TP | TP | TP |
chr11:47256423|GA ENST00000256996 | disease_causing | FN | TP | TP | TP | TP |
chr1:17313359|AC ENST00000326735 | disease_causing | TP | TP | TP | TP | TP |
chr17:17931590|AT ENST00000474627 | disease_causing | TP | TP | TP | TP | TP |
chr10:123970530|TC ENST00000358010 | polymorphism | TN | TN | TN | TN | TN |
chr20:3065260|AG ENST00000380293 | disease_causing | TP | TP | TP | TP | TP |
chr9:135203231|CT ENST00000393220 | polymorphism | TN | FP | TN | TN | FP |
chr6:33144993|CT ENST00000374708 | disease_causing | TP | TP | TP | TP | TP |
chr16:56536366|GA ENST00000568104 | disease_causing | TP | TP | TP | TP | TP |
chr11:94322352|AT ENST00000299001 | polymorphism | TN | TN | FP | FP | FP |
chr3:165548355|TC ENST00000264381 | disease_causing | TP | TP | TP | TP | TP |
chr21:19169155|GC ENST00000400559 | polymorphism | TN | FP | TN | FP | FP |
chr9:34647675|TC ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr1:16455935|GA ENST00000358432 | disease_causing | FN | FN | TP | TP | TP |
chr11:17408630|CT ENST00000339994 | polymorphism | TN | TN | TN | TN | TN |
chr8:75276244|GA ENST00000220822 | disease_causing | TP | TP | TP | TP | TP |
chr4:71068489|TC ENST00000396094 | polymorphism | TN | TN | TN | TN | TN |
chr5:179280379|TC ENST00000518235 | polymorphism | TN | TN | TN | TN | TN |
chr18:12337434|GT ENST00000269143 | disease_causing | TP | TP | TP | TP | TP |
chr4:83582064|GT ENST00000273908 | polymorphism | TN | TN | TN | FP | TN |
chr16:81348761|CA ENST00000248272 | disease_causing | FN | FN | FN | TP | TP |
chr15:59499179|GA ENST00000307144 | polymorphism | TN | TN | TN | TN | TN |
chr21:27264108|CT ENST00000346798 | disease_causing | TP | TP | TP | TP | TP |
chr1:116280877|AT ENST00000261448 | disease_causing | TP | TP | TP | TP | TP |
chr6:29911228|AT ENST00000396634 | polymorphism | TN | TN | TN | TN | TN |
chr1:55119515|TG ENST00000339553 | polymorphism | TN | TN | TN | TN | TN |
chr5:180046344|GC ENST00000393347 | polymorphism | TN | TN | FP | FP | FP |
chr15:91452595|AG ENST00000559717 | polymorphism | TN | TN | TN | TN | TN |
chr4:155488859|TA ENST00000302068 | disease_causing | TP | TP | TP | TP | TP |
chr8:20038466|TG ENST00000381608 | polymorphism | TN | TN | TN | TN | TN |
chr22:36556823|GT ENST00000349314 | polymorphism | TN | FP | TN | FP | TN |
chr22:51064416|TC ENST00000547805 | polymorphism | TN | TN | TN | TN | FP |
chr10:115922774|GA ENST00000369285 | polymorphism | TN | TN | TN | TN | TN |
chr11:17485004|AT ENST00000389817 | disease_causing | FN | FN | TP | TP | TP |
chr1:155205517|TA ENST00000368373 | disease_causing | TP | TP | TP | TP | TP |
chr8:139701209|GT ENST00000303045 | polymorphism | TN | TN | TN | TN | TN |
chr14:60582053|GA ENST00000404681 | polymorphism | TN | TN | TN | TN | TN |
chr1:16534646|CG ENST00000270747 | polymorphism | TN | TN | FP | TN | TN |
chr19:50162909|CG ENST00000377135 | polymorphism | TN | TN | TN | TN | TN |
chr7:5396715|TC ENST00000399537 | polymorphism | TN | TN | TN | TN | TN |
chr16:4933939|GC ENST00000345988 | polymorphism | FP | FP | TN | TN | FP |
chr3:38080952|TG ENST00000452631 | polymorphism | TN | TN | TN | TN | TN |
chr7:94038679|GA ENST00000297268 | disease_causing | TP | TP | TP | TP | TP |
chr18:21124945|CG ENST00000269228 | polymorphism | TN | TN | TN | TN | TN |
chr9:136301982|CG ENST00000371929 | polymorphism | TN | TN | TN | TN | TN |
chr1:7913430|GA ENST0000054668 | polymorphism | TN | TN | TN | FP | TN |
chr9:136404923|GA ENST00000354484 | disease_causing | TP | TP | FN | TP | TP |
chr5:14871543|GA ENST00000284268 | disease_causing | FN | TP | TP | TP | TP |
chr19:52496149|CT ENST00000376716 | polymorphism | TN | TN | TN | TN | TN |
chr16:89836323|CT ENST00000389301 | polymorphism | TN | TN | TN | TN | TN |
chr21:45709569|GT ENST00000291582 | disease_causing | TP | TP | TP | TP | TP |
chr11:134131232|GA ENST00000281182 | disease_causing | TP | TP | TP | TP | TP |
chr6:43006629|TG ENST00000265348 | disease_causing | TP | TP | TP | TP | TP |
chr17:4936898|CT ENST00000512825 | polymorphism | FP | FP | TN | FP | FP |
chr2:54120025|AT ENST00000421748 | polymorphism | TN | TN | TN | TN | FP |
chr16:84224967|GA ENST00000268624 | polymorphism | TN | TN | TN | TN | TN |
chr18:55328439|CT ENST00000283684 | disease_causing | TP | TP | TP | TP | TP |
chr2:220286072|TC ENST00000373960 | disease_causing | TP | TP | TP | TP | TP |
chr20:44038574|AG ENST00000372720 | polymorphism | TN | TN | TN | TN | TN |
chr13:20398669|TC ENST00000337963 | polymorphism | TN | TN | TN | TN | TN |
chr1:214811244|CG ENST00000366955 | polymorphism | TN | TN | TN | TN | TN |
chr1:108774901|GA ENST00000370038 | polymorphism | TN | TN | TN | TN | TN |
chr1:94471065|GA ENST00000370225 | disease_causing | TP | TP | TP | TP | TP |
chr20:36932660|CT ENST00000262865 | polymorphism | TN | FP | TN | TN | TN |
chr11:71155039|CG ENST00000407721 | disease_causing | TP | TP | FN | TP | TP |
chr16:75513398|TC ENST00000332272 | disease_causing | TP | TP | TP | TP | TP |
chr1:108778999|CT ENST00000370038 | polymorphism | TN | TN | TN | TN | TN |
chr2:241812431|CT ENST00000307503 | disease_causing | TP | TP | TP | TP | TP |
chr12:108956433|CT ENST00000539593 | polymorphism | FP | FP | TN | TN | FP |
chr6:130152520|AC ENST00000438392 | polymorphism | FP | FP | FP | FP | FP |
chr6:32336586|AG ENST00000447241 | polymorphism | TN | TN | TN | TN | TN |
chr16:15131962|AG ENST00000287706 | polymorphism | TN | TN | TN | TN | TN |
chr9:136291366|CT ENST00000371929 | disease_causing | TP | TP | TP | TP | TP |
chr13:20763589|CG ENST00000382848 | disease_causing | TP | TP | TP | TP | TP |
chr19:55143491|GT ENST00000324602 | polymorphism | TN | TN | TN | TN | TN |
chr5:73163965|CA ENST00000296794 | polymorphism | TN | TN | TN | TN | TN |
chr19:58004346|GC ENST00000426954 | polymorphism | TN | TN | TN | TN | TN |
chr19:54724457|TC ENST00000424807 | polymorphism | FP | TN | TN | TN | TN |
chr3:164783165|TC ENST00000264382 | polymorphism | TN | TN | TN | TN | TN |
chr9:34649488|CT ENST00000378842 | disease_causing | TP | TP | TP | TP | TP |
chr11:17483321|GT ENST00000389817 | disease_causing | FN | FN | FN | FN | TP |
chr1:248112745|GT ENST00000357191 | polymorphism | TN | TN | TN | TN | TN |
chr2:131355469|GA ENST00000259216 | disease_causing | TP | TP | TP | TP | TP |
chr22:50582626|AG ENST00000262794 | polymorphism | TN | TN | TN | TN | TN |
chr17:48274022|CA ENST00000225964 | disease_causing | TP | TP | TP | TP | TP |
chr19:9646898|GA ENST00000535489 | polymorphism | TN | TN | TN | TN | TN |
chr15:41827757|TA ENST00000304330 | polymorphism | TN | TN | TN | FP | TN |
chr11:17417194|TC ENST00000389817 | disease_causing | TP | TP | FN | TP | TP |
chr11:6520164|TA ENST00000354685 | polymorphism | TN | TN | TN | TN | TN |
chr3:98309933|GA ENST00000264193 | disease_causing | TP | TP | TP | TP | TP |
chr10:115489152|CG ENST00000369331 | polymorphism | TN | TN | TN | TN | TN |
chr9:18950787|GA ENST00000380534 | polymorphism | TN | TN | TN | TN | TN |
chr17:7127026|GA ENST00000543245 | disease_causing | TP | TP | TP | TP | TP |
chr20:55108617|CA ENST00000371325 | polymorphism | TN | TN | TN | TN | TN |
chr1:170928671|TC ENST00000367758 | polymorphism | TN | FP | TN | FP | TN |
chr20:52675188|GT ENST00000371435 | polymorphism | TN | TN | TN | TN | TN |
chr6:31239802|CG ENST00000376228 | polymorphism | TN | TN | TN | TN | TN |
chr15:48776128|CT ENST00000316623 | disease_causing | TP | TP | TP | TP | TP |
chr19:14829749|CT ENST00000292530 | polymorphism | TN | TN | TN | TN | TN |
chr12:1553797|AG ENST00000360905 | polymorphism | TN | TN | TN | TN | TN |
chr19:57089050|CT ENST00000391709 | polymorphism | TN | TN | TN | TN | TN |
chr9:130475442|AC ENST00000373295 | polymorphism | TN | TN | TN | TN | TN |
chr1:156347131|GA ENST00000368249 | polymorphism | FP | FP | FP | FP | FP |
chr19:13007063|GC ENST00000222214 | disease_causing | FN | FN | TP | TP | TP |
chr6:32632820|CG ENST00000399084 | polymorphism | TN | TN | TN | TN | TN |
chr3:43759167|GA ENST00000458276 | disease_causing | TP | TP | TP | TP | TP |