Variant report for GS18501
- Data source: var-GS18501-1100-36-ASM
- This report: evidence.pgp-hms.org/genomes?42b2be8deda87580e1b939bfd89125390475f5a9
- Person ID: GS18501
- Download: source data, dbSNP and nsSNP report (55 MB)
- Processing status: unknown
- Show debugging info
Log file:
Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
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Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
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Exome coverage: 31914993 / 32816496 = 97.25%
Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
---|---|---|---|---|---|---|
1 | AGRN | 1 | 0.88188334962529 | 725 | 6138 | 945416-945616, 965992-965994, 966073, 966077-966078, 966110-966123, 966416-966480, 966491-966523, 966554-966557, 966561-966565, 966576-966595, 971653-971688, 971753-971797, 971813-971853, 971904-971921, 972145, 973379-973382, 973427-973608, 975265, 976608, 976696-976697, 976743-976788 |
2 | GABRD | 1 | 0.94996320824135 | 68 | 1359 | 1940723-1940790 |
3 | PEX10 | 1 | 0.97790585975024 | 23 | 1041 | 2327855, 2328036-2328037, 2329894-2329897, 2333786-2333801 |
4 | NPHP4 | 1 | 0.9920579303901 | 34 | 4281 | 5847838, 5857192, 5857696-5857706, 5857727-5857747 |
5 | ESPN | 1 | 0.69473684210526 | 783 | 2565 | 6407603-6407746, 6407754-6407821, 6407843-6407869, 6410965-6410979, 6423273-6423455, 6428433-6428469, 6428484-6428507, 6431288-6431292, 6431314-6431338, 6431350, 6431379-6431444, 6431472-6431652, 6434714-6434720 |
6 | PLEKHG5 | 1 | 0.92254625274381 | 247 | 3189 | 6450774, 6450835, 6450838, 6452943-6452947, 6452952-6452957, 6453206-6453218, 6453683-6453684, 6454179-6454185, 6456696-6456811, 6457098-6457188, 6479967-6479970 |
7 | KIF1B | 1 | 0.99717673630717 | 15 | 5313 | 10348129-10348143 |
8 | CLCNKA | 1 | 0.97771317829457 | 46 | 2064 | 16225814-16225818, 16229543-16229553, 16230858, 16231303-16231324, 16232728-16232734 |
9 | CLCNKB | 1 | 0.99660852713178 | 7 | 2064 | 16255986-16255992 |
10 | PINK1 | 1 | 0.78694158075601 | 372 | 1746 | 20832629-20832767, 20832783-20833015 |
11 | HSPG2 | 1 | 0.99119611414693 | 116 | 13176 | 22064421, 22071713-22071718, 22072098-22072101, 22072105-22072108, 22072112-22072115, 22072120, 22086328-22086360, 22136235-22136297 |
12 | WNT4 | 1 | 0.91950757575758 | 85 | 1056 | 22319438, 22320405-22320411, 22341926-22342002 |
13 | FUCA1 | 1 | 0.99928622412562 | 1 | 1401 | 24067338 |
14 | LDLRAP1 | 1 | 0.90507011866235 | 88 | 927 | 25742777-25742864 |
15 | SEPN1 | 1 | 0.89048473967684 | 183 | 1671 | 25999309-25999491 |
16 | HPCA | 1 | 0.97079037800687 | 17 | 582 | 33132015-33132031 |
17 | KCNQ4 | 1 | 0.88984674329502 | 230 | 2088 | 41022353-41022494, 41022545-41022582, 41056764-41056782, 41056837-41056838, 41056843, 41056847-41056848, 41056867-41056891, 41076571 |
18 | LEPRE1 | 1 | 0.96246042514699 | 83 | 2211 | 43005012-43005042, 43005070-43005111, 43005139, 43005209-43005217 |
19 | MPL | 1 | 0.99842767295597 | 3 | 1908 | 43587563-43587565 |
20 | DHCR24 | 1 | 0.88330109606705 | 181 | 1551 | 55125151-55125200, 55125216-55125256, 55125279-55125368 |
21 | PCSK9 | 1 | 0.99470899470899 | 11 | 2079 | 55278150-55278153, 55278169, 55278173-55278176, 55294268-55294269 |
22 | LEPR | 1 | 0.99656946826758 | 12 | 3498 | 65809044-65809054, 65831078 |
23 | CTH | 1 | 0.9991789819376 | 1 | 1218 | 70656252 |
24 | RPL5 | 1 | 0.99888143176734 | 1 | 894 | 93079923 |
25 | COL11A1 | 1 | 0.9912039582188 | 48 | 5457 | 103136852-103136892, 103137085-103137086, 103137124, 103185049, 103227712, 103321076-103321077 |
26 | NOTCH2 | 1 | 0.98799892125135 | 89 | 7416 | 120341262-120341268, 120341304, 120341357-120341363, 120341456-120341462, 120349485-120349491, 120349545-120349581, 120349693-120349699, 120413480-120413486, 120413524-120413532 |
27 | FLG | 1 | 0.99671754472345 | 40 | 12186 | 150542914, 150546004-150546033, 150547911-150547917, 150548888-150548889 |
28 | CHRNB2 | 1 | 0.99204771371769 | 12 | 1509 | 152810868-152810879 |
29 | SEMA4A | 1 | 0.99431321084864 | 13 | 2286 | 154397855-154397857, 154397868-154397877 |
30 | NTRK1 | 1 | 0.96026767043078 | 95 | 2391 | 155097351-155097417, 155097438-155097449, 155110070-155110080, 155110234-155110238 |
31 | MPZ | 1 | 0.997425997426 | 2 | 777 | 159542362, 159542810 |
32 | NPHS2 | 1 | 0.91579861111111 | 97 | 1152 | 177811473, 177811485-177811491, 177811513-177811517, 177811521-177811527, 177811546-177811622 |
33 | RNASEL | 1 | 0.99775381850854 | 5 | 2226 | 180821792-180821796 |
34 | CDC73 | 1 | 0.98809523809524 | 19 | 1596 | 191377690-191377700, 191377707-191377714 |
35 | CFH | 1 | 0.99675324675325 | 12 | 3696 | 194925816-194925818, 194962339, 194973355, 194981683-194981689 |
36 | CFHR1 | 1 | 0.98992950654582 | 10 | 993 | 195055612-195055620, 195066369 |
37 | ASPM | 1 | 0.99904159478628 | 10 | 10434 | 195336318, 195336527-195336528, 195336542, 195336595-195336600 |
38 | CACNA1S | 1 | 0.99982212735681 | 1 | 5622 | 199289328 |
39 | USH2A | 1 | 0.99692485104747 | 48 | 15609 | 213983185-213983186, 213998560-213998561, 214318121-214318124, 214436648-214436659, 214563439-214563462, 214662013-214662016 |
40 | ADCK3 | 1 | 0.99948559670782 | 1 | 1944 | 225238426 |
41 | GJC2 | 1 | 0.33484848484848 | 878 | 1320 | 226412160-226412166, 226412184-226412250, 226412258-226412338, 226412408-226412485, 226412520-226412560, 226412574-226412605, 226412618-226412775, 226412785-226412797, 226412808-226412838, 226412852-226412939, 226412950-226413209, 226413220-226413226, 226413230-226413232, 226413246-226413257 |
42 | ACTA1 | 1 | 0.9673721340388 | 37 | 1134 | 227634511-227634547 |
43 | AGT | 1 | 0.98628257887517 | 20 | 1458 | 228905626, 228912406-228912424 |
44 | LYST | 1 | 0.9995616342276 | 5 | 11406 | 233932805-233932808, 233973940 |
45 | ACTN2 | 1 | 0.95307262569832 | 126 | 2685 | 234916597-234916722 |
46 | RYR2 | 1 | 0.99523617820719 | 71 | 14904 | 235722894, 235722897, 235722909-235722943, 235722956, 235857904, 235857908-235857910, 235887867-235887883, 235948385-235948396 |
47 | FH | 1 | 0.99804305283757 | 3 | 1533 | 239738695-239738696, 239738707 |
48 | PHYH | 10 | 0.95968534906588 | 41 | 1017 | 13381974-13381986, 13381995, 13381998, 13382009-13382034 |
49 | CUBN | 10 | 0.99760853568801 | 26 | 10872 | 17022170-17022171, 17125842, 17125920-17125921, 17125928, 17182042-17182060, 17182067 |
50 | PTF1A | 10 | 0.31003039513678 | 681 | 987 | 23521466-23521627, 23521646-23522164 |
51 | PDSS1 | 10 | 0.95352564102564 | 58 | 1248 | 27026680-27026703, 27026742-27026775 |
52 | RET | 10 | 0.97757847533632 | 75 | 3345 | 42892713-42892785, 42929934-42929935 |
53 | ERCC6 | 10 | 0.99620705042392 | 17 | 4482 | 50410833-50410849 |
54 | CHAT | 10 | 0.90031152647975 | 224 | 2247 | 50492242-50492443, 50492460-50492471, 50492480, 50492485-50492493 |
55 | PCDH15 | 10 | 0.99795501022495 | 12 | 5868 | 55257252, 55296455-55296458, 55296463-55296468, 55798973 |
56 | EGR2 | 10 | 0.99440950384347 | 8 | 1431 | 64243485-64243487, 64243497-64243501 |
57 | PRF1 | 10 | 0.99700239808153 | 5 | 1668 | 72028496-72028500 |
58 | PCBD1 | 10 | 0.99047619047619 | 3 | 315 | 72318294-72318296 |
59 | VCL | 10 | 0.97063142437592 | 100 | 3405 | 75427972-75428004, 75428030-75428055, 75428063, 75428075-75428114 |
60 | LDB3 | 10 | 0.96474358974359 | 77 | 2184 | 88466065-88466096, 88466142-88466165, 88466337-88466348, 88466371-88466379 |
61 | GLUD1 | 10 | 0.87775790101371 | 205 | 1677 | 88844118-88844163, 88844179-88844214, 88844359-88844405, 88844431-88844506 |
62 | LIPA | 10 | 0.99833333333333 | 2 | 1200 | 90978025, 90978029 |
63 | ANKRD1 | 10 | 0.99895833333333 | 1 | 960 | 92670034 |
64 | PLCE1 | 10 | 0.99956578376031 | 3 | 6909 | 96066357-96066359 |
65 | HPS1 | 10 | 0.9961959106039 | 8 | 2103 | 100167413-100167420 |
66 | PAX2 | 10 | 0.99538106235566 | 6 | 1299 | 102577322-102577324, 102577411-102577413 |
67 | FBXW4 | 10 | 0.99677158999193 | 4 | 1239 | 103444228, 103444368-103444370 |
68 | HPS6 | 10 | 0.875 | 291 | 2328 | 103815222-103815235, 103815244-103815318, 103815368-103815381, 103815389-103815497, 103815511-103815538, 103815724-103815727, 103815733-103815737, 103815747-103815757, 103815763-103815779, 103815787-103815791, 103816673-103816681 |
69 | SUFU | 10 | 0.95463917525773 | 66 | 1455 | 104253900-104253908, 104253924-104253960, 104253974-104253992, 104254074 |
70 | COL17A1 | 10 | 0.99888740542946 | 5 | 4494 | 105806801, 105806806-105806807, 105806827-105806828 |
71 | EMX2 | 10 | 0.83926218708827 | 122 | 759 | 119292769-119292799, 119292819-119292826, 119292838-119292886, 119292924-119292952, 119293170-119293174 |
72 | BAG3 | 10 | 0.89988425925926 | 173 | 1728 | 121401178-121401350 |
73 | HTRA1 | 10 | 0.78794178794179 | 306 | 1443 | 124211159-124211442, 124211464-124211472, 124211581-124211584, 124211589-124211590, 124211594, 124211598, 124211614-124211618 |
74 | UROS | 10 | 0.99749373433584 | 2 | 798 | 127493602, 127493611 |
75 | TALDO1 | 11 | 0.94082840236686 | 60 | 1014 | 737482-737489, 737542-737545, 737549-737554, 737566-737572, 737578, 753344-753345, 753359-753363, 753409-753415, 753419-753426, 753433, 753454-753455, 753477-753480, 753486, 753501-753504 |
76 | SLC25A22 | 11 | 0.92489711934156 | 73 | 972 | 782605-782671, 782884, 782948-782952 |
77 | PNPLA2 | 11 | 0.87128712871287 | 195 | 1515 | 809719-809905, 814001, 814368-814374 |
78 | CTSD | 11 | 0.91928974979822 | 100 | 1239 | 1731908-1731914, 1731920-1731944, 1741598-1741665 |
79 | TNNT3 | 11 | 0.9727626459144 | 21 | 771 | 1903062-1903082 |
80 | H19 | 11 | 0.99439775910364 | 6 | 1071 | 1974418-1974421, 1974578, 1974838 |
81 | IGF2 | 11 | 0.89029535864979 | 78 | 711 | 2117951-2117981, 2118026-2118072 |
82 | TH | 11 | 0.93698802772527 | 100 | 1587 | 2144341-2144344, 2144349-2144350, 2144355, 2144439-2144459, 2144758-2144764, 2147597, 2148506-2148545, 2148553-2148576 |
83 | KCNQ1 | 11 | 0.84145741014279 | 322 | 2031 | 2422905-2423170, 2423184-2423231, 2423255-2423262 |
84 | CDKN1C | 11 | 0.41640378548896 | 555 | 951 | 2862476-2862917, 2862952-2862991, 2863005-2863021, 2863029-2863059, 2863068-2863089, 2863210-2863212 |
85 | SMPD1 | 11 | 0.96571729957806 | 65 | 1896 | 6368530-6368547, 6369293-6369337, 6369672-6369673 |
86 | SBF2 | 11 | 0.98558558558559 | 80 | 5550 | 9794967-9794972, 9794980-9794998, 10272138-10272192 |
87 | USH1C | 11 | 0.94481481481481 | 149 | 2700 | 17479217-17479218, 17479229-17479240, 17487592-17487594, 17487619-17487630, 17487637-17487642, 17487685-17487698, 17487716-17487721, 17487730-17487735, 17487779, 17487814-17487838, 17487849-17487866, 17487874-17487917 |
88 | ANO5 | 11 | 0.9744711889132 | 70 | 2742 | 22205561, 22233493-22233504, 22233580-22233635, 22257796 |
89 | PAX6 | 11 | 0.99921197793538 | 1 | 1269 | 31784527 |
90 | WT1 | 11 | 0.81081081081081 | 294 | 1554 | 32413081-32413110, 32413116-32413150, 32413169, 32413175, 32413205-32413238, 32413248-32413440 |
91 | RAG1 | 11 | 0.99968071519796 | 1 | 3132 | 36551520 |
92 | ALX4 | 11 | 0.97491909385113 | 31 | 1236 | 44287854-44287872, 44287924-44287935 |
93 | SLC35C1 | 11 | 0.94611872146119 | 59 | 1095 | 45784128-45784164, 45784184-45784204, 45784251 |
94 | SLC39A13 | 11 | 0.99283154121864 | 8 | 1116 | 47388348-47388354, 47390121 |
95 | BEST1 | 11 | 0.99317406143345 | 12 | 1758 | 61479850-61479861 |
96 | ROM1 | 11 | 0.99905303030303 | 1 | 1056 | 62137668 |
97 | SLC22A12 | 11 | 0.99458483754513 | 9 | 1662 | 64123745, 64123748, 64123839-64123845 |
98 | EFEMP2 | 11 | 0.99924924924925 | 1 | 1332 | 65396385 |
99 | CST6 | 11 | 0.98666666666667 | 6 | 450 | 65536222, 65536884-65536888 |
100 | SPTBN2 | 11 | 0.99804823644221 | 14 | 7173 | 66217363, 66217819-66217831 |
101 | PC | 11 | 0.98953915747809 | 37 | 3537 | 66376623-66376634, 66390250-66390253, 66390265-66390269, 66390296, 66390334-66390348 |
102 | AIP | 11 | 0.99093655589124 | 9 | 993 | 67014132, 67014136, 67014376-67014378, 67014399-67014402 |
103 | NDUFS8 | 11 | 0.98578199052133 | 9 | 633 | 67560505, 67560513-67560518, 67560635-67560636 |
104 | TCIRG1 | 11 | 0.99839550742078 | 4 | 2493 | 67567926-67567929 |
105 | LRP5 | 11 | 0.98081683168317 | 93 | 4848 | 67836759-67836849, 67963959-67963960 |
106 | DHCR7 | 11 | 0.93347338935574 | 95 | 1428 | 70824204-70824249, 70824286, 70824290, 70824309-70824344, 70824388-70824398 |
107 | MYO7A | 11 | 0.99864620938628 | 9 | 6648 | 76591753-76591761 |
108 | FZD4 | 11 | 0.99380421313507 | 10 | 1614 | 86343728-86343729, 86343744-86343748, 86343755-86343757 |
109 | TYR | 11 | 0.99559748427673 | 7 | 1590 | 88657706-88657712 |
110 | TRPC6 | 11 | 0.99964234620887 | 1 | 2796 | 100959387 |
111 | DYNC2H1 | 11 | 0.99884125144844 | 15 | 12945 | 102549026-102549027, 102549045-102549053, 102549234, 102552356, 102557705, 102557708 |
112 | ATM | 11 | 0.99869152764148 | 12 | 9171 | 107603716-107603720, 107603731, 107632232-107632237 |
113 | ALG9 | 11 | 0.97385620915033 | 48 | 1836 | 111247329-111247335, 111247348-111247355, 111247357-111247383, 111247405-111247410 |
114 | DRD2 | 11 | 0.99399399399399 | 8 | 1332 | 112786670-112786677 |
115 | APOA1 | 11 | 0.9863184079602 | 11 | 804 | 116211947-116211952, 116212009-116212013 |
116 | DPAGT1 | 11 | 0.99755501222494 | 3 | 1227 | 118477506-118477508 |
117 | C1QTNF5 | 11 | 0.94398907103825 | 41 | 732 | 118716199, 118716205-118716211, 118716251-118716283 |
118 | ROBO3 | 11 | 0.99735640471041 | 11 | 4161 | 124244140-124244147, 124251478, 124251521-124251522 |
119 | WNK1 | 12 | 0.99286613512379 | 51 | 7149 | 733425, 733479-733499, 733523-733528, 865022-865042, 887281-887282 |
120 | CACNA1C | 12 | 0.99329370522786 | 44 | 6561 | 2665195-2665201, 2668069-2668072, 2668083-2668115 |
121 | VWF | 12 | 0.98862828713575 | 96 | 8442 | 5973324-5973333, 5991216-5991221, 5997919, 6002186-6002193, 6002216-6002243, 6002264-6002294, 6036466-6036477 |
122 | TPI1 | 12 | 0.952 | 36 | 750 | 6846992-6847020, 6847028-6847034 |
123 | ATN1 | 12 | 0.98740554156171 | 45 | 3573 | 6915867-6915871, 6916158-6916195, 6917404-6917405 |
124 | GYS2 | 12 | 0.99005681818182 | 21 | 2112 | 21603303-21603306, 21603312-21603328 |
125 | ABCC9 | 12 | 0.99935483870968 | 3 | 4650 | 21955069-21955071 |
126 | PKP2 | 12 | 0.97016706443914 | 75 | 2514 | 32940813-32940843, 32940871-32940886, 32940905-32940932 |
127 | LRRK2 | 12 | 0.99736286919831 | 20 | 7584 | 38931314-38931332, 38939587 |
128 | IRAK4 | 12 | 0.99276934201012 | 10 | 1383 | 42453004, 42466472-42466480 |
129 | VDR | 12 | 0.97352024922118 | 34 | 1284 | 46537624-46537657 |
130 | COL2A1 | 12 | 0.9923835125448 | 34 | 4464 | 46684318-46684351 |
131 | MLL2 | 12 | 0.96033465751776 | 659 | 16614 | 47706382, 47706385, 47707084, 47707151-47707155, 47707159, 47707162, 47707167, 47707171, 47707178-47707181, 47707185, 47707227-47707237, 47710438-47710440, 47710446-47710447, 47712881, 47712889-47712891, 47712911-47712916, 47712973-47713147, 47713155-47713218, 47713232-47713372, 47713414-47713434, 47713456-47713490, 47713509-47713602, 47713709-47713726, 47713750-47713751, 47713799, 47713811, 47713814, 47713829, 47713851-47713860, 47713865, 47713877, 47713922, 47713925, 47713931-47713933, 47717615-47717618, 47717859-47717865, 47717943-47717946, 47717954-47717958, 47718035, 47718102-47718118, 47718174-47718179, 47720786 |
132 | DHH | 12 | 0.96809403862301 | 38 | 1191 | 47770027-47770041, 47770103-47770125 |
133 | KRT81 | 12 | 0.99538866930171 | 7 | 1518 | 50969266-50969272 |
134 | KRT86 | 12 | 0.99315537303217 | 10 | 1461 | 50982141-50982143, 50984216-50984222 |
135 | KRT83 | 12 | 0.99932523616734 | 1 | 1482 | 50999410 |
136 | KRT6B | 12 | 0.97935103244838 | 35 | 1695 | 51127325-51127326, 51129902, 51131631-51131638, 51131699-51131705, 51131838-51131845, 51132064-51132072 |
137 | KRT6C | 12 | 0.96755162241888 | 55 | 1695 | 51149238-51149244, 51151562-51151567, 51153290-51153297, 51153358-51153375, 51153497-51153503, 51153723-51153731 |
138 | KRT6A | 12 | 0.98702064896755 | 22 | 1695 | 51167808-51167814, 51167896-51167902, 51171002, 51172820-51172826 |
139 | KRT5 | 12 | 0.92272983643542 | 137 | 1773 | 51194993-51195034, 51195043-51195065, 51195083, 51195104-51195174 |
140 | KRT1 | 12 | 0.9953488372093 | 9 | 1935 | 51356417-51356425 |
141 | KIF5A | 12 | 0.98289770893837 | 53 | 3099 | 56230329-56230375, 56230429-56230434 |
142 | CYP27B1 | 12 | 0.99476096922069 | 8 | 1527 | 56446073-56446078, 56446083-56446084 |
143 | TSFM | 12 | 0.9959100204499 | 4 | 978 | 56462869-56462872 |
144 | LEMD3 | 12 | 0.99671052631579 | 9 | 2736 | 63850023, 63850157, 63850161-63850166, 63850171 |
145 | CEP290 | 12 | 0.99193548387097 | 60 | 7440 | 86986498-86986499, 86997098-86997107, 86997121-86997137, 87043192-87043203, 87043252, 87043255, 87043264-87043265, 87043270-87043277, 87046868-87046872, 87046915-87046916 |
146 | SLC17A8 | 12 | 0.99830508474576 | 3 | 1770 | 99298664-99298666 |
147 | GNPTAB | 12 | 0.99946963670114 | 2 | 3771 | 100682894-100682895 |
148 | TRPV4 | 12 | 0.99961773700306 | 1 | 2616 | 108721094 |
149 | ATP2A2 | 12 | 0.99616490891659 | 12 | 3129 | 109203986-109203996, 109204046 |
150 | MYL2 | 12 | 0.98203592814371 | 9 | 501 | 109833291-109833292, 109833302-109833308 |
151 | ATXN2 | 12 | 0.83764586504313 | 640 | 3942 | 110520971-110521230, 110521242-110521621 |
152 | PTPN11 | 12 | 0.99214365881033 | 14 | 1782 | 111341299-111341312 |
153 | TBX3 | 12 | 0.90636200716846 | 209 | 2232 | 113594428-113594429, 113596366-113596367, 113596403-113596553, 113596563-113596570, 113596595-113596619, 113596708-113596709, 113596759-113596777 |
154 | HNF1A | 12 | 0.99894514767932 | 2 | 1896 | 119918740-119918741 |
155 | PUS1 | 12 | 0.93847352024922 | 79 | 1284 | 130980225-130980272, 130980280-130980289, 130980426-130980432, 130980453-130980465, 130980478 |
156 | SACS | 13 | 0.98944687045124 | 145 | 13740 | 22810835, 22810839-22810841, 22810875, 22847269-22847408 |
157 | PDX1 | 13 | 0.90492957746479 | 81 | 852 | 27392289-27392292, 27396399-27396414, 27396645-27396656, 27396670-27396718 |
158 | B3GALTL | 13 | 0.95323981295925 | 70 | 1497 | 30672222-30672291 |
159 | FREM2 | 13 | 0.99600420609884 | 38 | 9510 | 38159626-38159629, 38159636-38159639, 38159828-38159842, 38159931-38159933, 38159938-38159949 |
160 | TNFSF11 | 13 | 0.98846960167715 | 11 | 954 | 42046450-42046452, 42046455, 42046505-42046511 |
161 | RB1 | 13 | 0.99641191245066 | 10 | 2787 | 47776114-47776117, 47776132-47776134, 47776142-47776144 |
162 | ZIC2 | 13 | 0.43339587242026 | 906 | 1599 | 99432320-99432718, 99432727-99432815, 99432823-99432883, 99432899-99432937, 99433005-99433050, 99433069, 99435578-99435588, 99435618-99435649, 99435666-99435676, 99435699-99435871, 99435880-99435902, 99435912-99435932 |
163 | PCCA | 13 | 0.99862825788752 | 3 | 2187 | 99539443, 99539446-99539447 |
164 | COL4A1 | 13 | 0.99760479041916 | 12 | 5010 | 109757339-109757344, 109757354-109757358, 109757375 |
165 | F7 | 13 | 0.98429693076374 | 22 | 1401 | 112813038-112813057, 112820964-112820965 |
166 | GRK1 | 13 | 0.98882113821138 | 11 | 984 | 113370147-113370150, 113373883-113373889 |
167 | PABPN1 | 14 | 0.61889250814332 | 351 | 921 | 22860519-22860869 |
168 | MYH6 | 14 | 0.99982817869416 | 1 | 5820 | 22925032 |
169 | MYH7 | 14 | 0.99466253443526 | 31 | 5808 | 22952870, 22957398, 22957404-22957410, 22957417-22957420, 22963909, 22963976-22963986, 22964350-22964355 |
170 | NRL | 14 | 0.84313725490196 | 112 | 714 | 23620420-23620429, 23620443-23620484, 23620495-23620503, 23620517-23620565, 23620595, 23620598 |
171 | FOXG1 | 14 | 0.67687074829932 | 475 | 1470 | 28306237-28306711 |
172 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 34253495-34253497 |
173 | NKX2-1 | 14 | 0.74543946932007 | 307 | 1206 | 36056252, 36056335-36056372, 36056421-36056445, 36056456-36056656, 36056667-36056674, 36056862-36056871, 36056949, 36058118-36058135, 36059042-36059046 |
174 | FANCM | 14 | 0.99951195705222 | 3 | 6147 | 44675044, 44693720, 44693726 |
175 | C14orf104 | 14 | 0.91288782816229 | 219 | 2514 | 49170529-49170535, 49170552-49170617, 49170623-49170639, 49170649-49170698, 49170712-49170716, 49170743, 49170747-49170750, 49170758-49170767, 49170800-49170804, 49170829-49170844, 49170846-49170855, 49170880-49170885, 49170973, 49171011-49171021, 49171142, 49171295-49171301, 49171308, 49171314 |
176 | PYGL | 14 | 0.98663522012579 | 34 | 2544 | 50480707-50480733, 50480821-50480827 |
177 | GCH1 | 14 | 0.93227091633466 | 51 | 753 | 54438965-54438967, 54439007, 54439010, 54439075-54439114, 54439126-54439131 |
178 | SIX1 | 14 | 0.99883040935673 | 1 | 855 | 60185241 |
179 | SYNE2 | 14 | 0.99932445473847 | 14 | 20724 | 63527573-63527574, 63530306-63530307, 63539289, 63586082, 63761869-63761876 |
180 | ZFYVE26 | 14 | 0.9994750656168 | 4 | 7620 | 67298850-67298851, 67344146-67344147 |
181 | EIF2B2 | 14 | 0.98768939393939 | 13 | 1056 | 74541228-74541234, 74541345-74541350 |
182 | MLH3 | 14 | 0.99816597890876 | 8 | 4362 | 74553558-74553565 |
183 | TGFB3 | 14 | 0.99596448748991 | 5 | 1239 | 75516948-75516952 |
184 | ESRRB | 14 | 0.95143047238856 | 73 | 1503 | 76034427-76034459, 76034472-76034511 |
185 | POMT2 | 14 | 0.99289835774523 | 16 | 2253 | 76856631, 76856637, 76856731-76856735, 76856740-76856748 |
186 | GALC | 14 | 0.98736637512148 | 26 | 2058 | 87529147, 87529197-87529208, 87529216-87529228 |
187 | SPATA7 | 14 | 0.99222222222222 | 14 | 1800 | 87952899-87952911, 87974029 |
188 | ATXN3 | 14 | 0.99815837937385 | 2 | 1086 | 91607112, 91607132 |
189 | VRK1 | 14 | 0.99076406381192 | 11 | 1191 | 96373897-96373907 |
190 | AMN | 14 | 0.84728340675477 | 208 | 1362 | 102466255-102466259, 102466279-102466417, 102466496-102466497, 102466507-102466519, 102466525-102466531, 102466541-102466548, 102466670-102466692, 102466698-102466705, 102466768-102466770 |
191 | INF2 | 14 | 0.89493333333333 | 394 | 3750 | 104239050-104239060, 104244739-104244743, 104244796-104244801, 104244805, 104244809, 104244812, 104244818-104244834, 104244904-104245169, 104245192-104245226, 104245276-104245287, 104245305-104245335, 104245936-104245943 |
192 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 20637675-20637852 |
193 | UBE3A | 15 | 0.99771689497717 | 6 | 2628 | 23135377-23135382 |
194 | OCA2 | 15 | 0.99642431466031 | 9 | 2517 | 25946656-25946664 |
195 | CHST14 | 15 | 0.88328912466844 | 132 | 1131 | 38550705-38550832, 38550864-38550867 |
196 | CDAN1 | 15 | 0.90580890336591 | 347 | 3684 | 40810223-40810224, 40813817, 40816008-40816015, 40816025-40816270, 40816503-40816592 |
197 | STRC | 15 | 0.98460960960961 | 82 | 5328 | 41680136-41680157, 41683595-41683604, 41684787-41684794, 41692331, 41695377, 41695482-41695484, 41697473-41697478, 41697491, 41697494, 41697574-41697581, 41697728-41697736, 41698176-41698187 |
198 | STRC | 15 | 0.98051282051282 | 38 | 1950 | 41794839, 41794944-41794946, 41796872-41796875, 41796880-41796893, 41796935-41796940, 41796953, 41796956, 41797036-41797043 |
199 | DUOX2 | 15 | 0.99548095545513 | 21 | 4647 | 43185768-43185784, 43190943, 43190947-43190949 |
200 | GATM | 15 | 0.97091194968553 | 37 | 1272 | 43457875-43457877, 43457905-43457938 |
201 | SLC12A1 | 15 | 0.99969696969697 | 1 | 3300 | 46314368 |
202 | CEP152 | 15 | 0.99899295065458 | 5 | 4965 | 46823743-46823746, 46846681 |
203 | CLN6 | 15 | 0.91132478632479 | 83 | 936 | 66308894-66308976 |
204 | CLN6 | 15 | 0.99211045364892 | 4 | 507 | 66293508-66293511 |
205 | NR2E3 | 15 | 0.97826086956522 | 24 | 1104 | 69890965-69890988 |
206 | BBS4 | 15 | 0.99935897435897 | 1 | 1560 | 70816332 |
207 | HCN4 | 15 | 0.812569213732 | 677 | 3612 | 71401883-71401891, 71402090, 71402110-71402114, 71402120, 71402124-71402136, 71402184-71402189, 71402195-71402197, 71402209-71402215, 71402301-71402306, 71402333-71402340, 71402345, 71402967-71402972, 71403045-71403055, 71403087-71403092, 71403103-71403105, 71403192-71403234, 71403330-71403343, 71403506, 71403634, 71447133-71447664 |
208 | POLG | 15 | 0.99327956989247 | 25 | 3720 | 87677820-87677824, 87677843, 87677850-87677868 |
209 | MESP2 | 15 | 0.99664991624791 | 4 | 1194 | 88121064-88121067 |
210 | BLM | 15 | 0.99929478138223 | 3 | 4254 | 89104498, 89138527-89138528 |
211 | VPS33B | 15 | 0.99946062567422 | 1 | 1854 | 89366478 |
212 | IGF1R | 15 | 0.99780701754386 | 9 | 4104 | 97010352, 97010400-97010406, 97068775 |
213 | HBZ | 16 | 0.41958041958042 | 249 | 429 | 143891-144095, 144271-144280, 144323-144343, 144387-144399 |
214 | HBM | 16 | 0.89671361502347 | 44 | 426 | 156031, 156308, 156311, 156348-156354, 156412-156445 |
215 | HBA2 | 16 | 0.94405594405594 | 24 | 429 | 162969-162973, 163135-163153 |
216 | CLCN7 | 16 | 0.95119933829611 | 118 | 2418 | 1443880, 1464836-1464951, 1464976 |
217 | IGFALS | 16 | 0.998899889989 | 2 | 1818 | 1780885, 1781015 |
218 | GFER | 16 | 0.60355987055016 | 245 | 618 | 1974221-1974447, 1974459-1974476 |
219 | TSC2 | 16 | 0.98119469026549 | 102 | 5424 | 2043395, 2043398-2043427, 2061832-2061876, 2064224-2064230, 2064241-2064243, 2076318-2076326, 2076346, 2076350-2076355 |
220 | PKD1 | 16 | 0.87290892193309 | 1641 | 12912 | 2080540, 2080915-2080947, 2080954-2080990, 2081054-2081060, 2081083-2081176, 2081425-2081496, 2083068-2083080, 2087192-2087204, 2087484, 2087732, 2087970-2087986, 2089646-2089676, 2089742-2089748, 2089863-2089880, 2089963-2089993, 2090279-2090285, 2090457-2090485, 2092114-2092137, 2092169-2092175, 2092385-2092403, 2092568-2092574, 2092618-2092635, 2092860-2092866, 2092966-2092972, 2093303, 2093309, 2093500-2093506, 2093543-2093567, 2093672-2093677, 2093720-2093742, 2093821-2093827, 2094629-2094644, 2095423-2095431, 2095918-2095942, 2095993-2095999, 2096018-2096026, 2096166, 2096196, 2096443-2096477, 2096495-2096527, 2096668, 2096824-2096825, 2096901-2096908, 2096935-2096950, 2098351-2098357, 2099256-2099291, 2099424-2099427, 2099454-2099475, 2099486-2099489, 2099566-2099585, 2099712-2099736, 2099780-2099786, 2099990-2100000, 2100135-2100141, 2100719-2100738, 2101447-2101453, 2101677-2101683, 2101741-2101749, 2102358-2102365, 2102960, 2103180-2103186, 2104209-2104244, 2104352-2104378, 2104447, 2104464, 2104491, 2104533-2104540, 2104912-2104918, 2105393-2105400, 2105584-2105591, 2105611-2105627, 2106067-2106073, 2106568-2106569, 2106835-2106846, 2106916-2106922, 2107546-2107569, 2107625-2107639, 2107872-2107879, 2107953-2107996, 2108057-2108100, 2108127-2108148, 2108154-2108163, 2108168, 2108173-2108183, 2108209-2108216, 2108289-2108297, 2108312-2108373, 2108389-2108417, 2108693-2108742, 2109116-2109139, 2125490-2125691 |
221 | ABCA3 | 16 | 0.9941348973607 | 30 | 5115 | 2274979-2274986, 2278034-2278037, 2278044, 2278051-2278056, 2278063-2278073 |
222 | SLX4 | 16 | 0.99927338782925 | 4 | 5505 | 3572404, 3579784, 3579787, 3587846 |
223 | CREBBP | 16 | 0.95811161140674 | 307 | 7329 | 3717752, 3717756-3717763, 3717774, 3717778, 3717785-3717791, 3717886-3717891, 3717900, 3718166, 3718308-3718315, 3718377, 3718413-3718458, 3718788-3718815, 3718822-3718846, 3718856, 3718882, 3719011, 3719060-3719085, 3719099-3719101, 3719107-3719114, 3719157-3719163, 3719184-3719219, 3719266-3719274, 3719277-3719281, 3719289-3719298, 3719371, 3719471-3719474, 3719612-3719616, 3869834-3869846, 3869852-3869858, 3869883-3869918 |
224 | GLIS2 | 16 | 0.98095238095238 | 30 | 1575 | 4327078-4327097, 4327103-4327109, 4327160-4327162 |
225 | ALG1 | 16 | 0.92329749103943 | 107 | 1395 | 5068830-5068860, 5070970-5071000, 5071025-5071037, 5074752-5074783 |
226 | ABAT | 16 | 0.99534264803726 | 7 | 1503 | 8780902-8780908 |
227 | ABCC6 | 16 | 0.99512411347518 | 22 | 4512 | 16199473-16199479, 16220913, 16221010-16221016, 16221290-16221296 |
228 | UMOD | 16 | 0.99895995839834 | 2 | 1923 | 20267624, 20267633 |
229 | OTOA | 16 | 0.99795321637427 | 7 | 3420 | 21655195-21655201 |
230 | SCNN1B | 16 | 0.99583983359334 | 8 | 1923 | 23267482-23267489 |
231 | PALB2 | 16 | 0.99943836001123 | 2 | 3561 | 23555091-23555092 |
232 | CLN3 | 16 | 0.99772209567198 | 3 | 1317 | 28405180-28405182 |
233 | TUFM | 16 | 0.99926900584795 | 1 | 1368 | 28764920 |
234 | PHKG2 | 16 | 0.92137592137592 | 96 | 1221 | 30667643-30667737, 30675828 |
235 | FUS | 16 | 0.99746995572423 | 4 | 1581 | 31102794, 31102822-31102824 |
236 | SLC5A2 | 16 | 0.96532937097573 | 70 | 2019 | 31407453, 31407554-31407569, 31407743-31407780, 31407799-31407813 |
237 | PHKB | 16 | 0.99939061547837 | 2 | 3282 | 46091275-46091276 |
238 | CYLD | 16 | 0.99965059399022 | 1 | 2862 | 49343242 |
239 | SALL1 | 16 | 0.98890737659456 | 40 | 3606 | 49733141-49733180 |
240 | RPGRIP1L | 16 | 0.99848024316109 | 6 | 3948 | 52229797, 52229812-52229816 |
241 | MMP2 | 16 | 0.98789712556732 | 24 | 1983 | 54070905-54070908, 54070960-54070971, 54070978-54070985 |
242 | SLC12A3 | 16 | 0.99838344649208 | 5 | 3093 | 55479409, 55479413-55479416 |
243 | CETP | 16 | 0.99932523616734 | 1 | 1482 | 55569609 |
244 | COQ9 | 16 | 0.99477533960293 | 5 | 957 | 56038919, 56038930-56038933 |
245 | CNGB1 | 16 | 0.99973375931842 | 1 | 3756 | 56475707 |
246 | HSD11B2 | 16 | 0.75779967159278 | 295 | 1218 | 66022653-66022825, 66027474-66027477, 66027497-66027528, 66027544-66027546, 66027701-66027703, 66027992-66028032, 66028170-66028197, 66028261-66028269, 66028284, 66028288 |
247 | CDH3 | 16 | 0.99116465863454 | 22 | 2490 | 67237061-67237082 |
248 | CDH1 | 16 | 0.99093997734994 | 24 | 2649 | 67328834-67328855, 67328866-67328867 |
249 | COG8 | 16 | 0.97661772702556 | 43 | 1839 | 67926199-67926201, 67930708-67930729, 67930745-67930762 |
250 | AARS | 16 | 0.99965600275198 | 1 | 2907 | 68849524 |
251 | TAT | 16 | 0.9985347985348 | 2 | 1365 | 70163988-70163989 |
252 | HP | 16 | 0.96805896805897 | 39 | 1221 | 70649660-70649689, 70650518, 70650530-70650531, 70650534, 70650584-70650588 |
253 | GCSH | 16 | 0.89272030651341 | 56 | 522 | 79687270, 79687314-79687334, 79687349-79687382 |
254 | GAN | 16 | 0.90691192865106 | 167 | 1794 | 79906222-79906386, 79945712-79945713 |
255 | MLYCD | 16 | 0.70985155195682 | 430 | 1482 | 82490251-82490534, 82490552-82490697 |
256 | LRRC50 | 16 | 0.99908172635445 | 2 | 2178 | 82757000-82757001 |
257 | FOXF1 | 16 | 0.89824561403509 | 116 | 1140 | 85101677-85101745, 85102355-85102367, 85102434-85102438, 85102476-85102504 |
258 | FOXC2 | 16 | 0.65670650730412 | 517 | 1506 | 85159127-85159130, 85159169-85159171, 85159178-85159184, 85159198-85159699, 85159776 |
259 | JPH3 | 16 | 0.94259012016021 | 129 | 2247 | 86280762-86280773, 86280790-86280802, 86280844-86280846, 86280929-86280988, 86281041-86281045, 86281151, 86281166, 86281170, 86281178, 86281188, 86281190-86281200, 86281206-86281225 |
260 | CYBA | 16 | 0.78741496598639 | 125 | 588 | 87237262-87237287, 87237310-87237348, 87237373-87237414, 87244873-87244890 |
261 | GALNS | 16 | 0.92351816443595 | 120 | 1569 | 87450667-87450786 |
262 | SPG7 | 16 | 0.9463986599665 | 128 | 2388 | 88102327-88102392, 88102403-88102411, 88102427-88102430, 88102437-88102475, 88102485-88102494 |
263 | FANCA | 16 | 0.98626373626374 | 60 | 4368 | 88369713-88369724, 88410446-88410475, 88410488-88410505 |
264 | TUBB3 | 16 | 0.9460458240946 | 73 | 1353 | 88517311-88517367, 88529216-88529222, 88529523, 88529531-88529536, 88529692, 88529700 |
265 | CHRNE | 17 | 0.99932523616734 | 1 | 1482 | 4743147 |
266 | GP1BA | 17 | 0.99427083333333 | 11 | 1920 | 4778075, 4778099-4778100, 4778238-4778240, 4778246, 4778263-4778264, 4778360-4778361 |
267 | PITPNM3 | 17 | 0.94358974358974 | 165 | 2925 | 6299405-6299438, 6299459-6299512, 6299531-6299535, 6299602-6299610, 6299626-6299655, 6299666-6299687, 6400429-6400433, 6400445-6400450 |
268 | CHRNB1 | 17 | 0.99468791500664 | 8 | 1506 | 7289328-7289335 |
269 | MPDU1 | 17 | 0.96370967741935 | 27 | 744 | 7431027-7431031, 7431039-7431049, 7431057-7431059, 7431214-7431221 |
270 | MPDU1 | 17 | 0.98198198198198 | 8 | 444 | 7431214-7431221 |
271 | GUCY2D | 17 | 0.89794685990338 | 338 | 3312 | 7847091-7847152, 7847159-7847166, 7847173-7847237, 7847248-7847412, 7847423-7847448, 7847484, 7847489-7847495, 7847649-7847652 |
272 | ALOXE3 | 17 | 0.97612359550562 | 51 | 2136 | 7953959-7953964, 7954135-7954146, 7954459-7954491 |
273 | HES7 | 17 | 0.71533923303835 | 193 | 678 | 7965614-7965749, 7965774, 7965958-7965959, 7965965-7965966, 7965972-7965974, 7965984, 7965988-7965991, 7966386-7966410, 7966433-7966451 |
274 | MYH8 | 17 | 0.99965600275198 | 2 | 5814 | 10242669, 10242860 |
275 | COX10 | 17 | 0.97522522522523 | 33 | 1332 | 14036070-14036102 |
276 | PMP22 | 17 | 0.97722567287785 | 11 | 483 | 15104725-15104735 |
277 | FLCN | 17 | 0.99942528735632 | 1 | 1740 | 17057782 |
278 | RAI1 | 17 | 0.97657752141234 | 134 | 5721 | 17637108-17637153, 17637179-17637211, 17637259-17637260, 17637526-17637535, 17637835-17637864, 17638338-17638343, 17639554-17639560 |
279 | MYO15A | 17 | 0.92311325210163 | 814 | 10587 | 17964716-17964796, 17964805-17964815, 17964837-17964942, 17964958-17964994, 17965003-17965236, 17965247-17965304, 17965321-17965351, 17965358, 17965396-17965421, 17965426, 17965438-17965442, 17965458-17965472, 17965483-17965519, 17965526-17965530, 17965579-17965601, 17965606, 17986220, 17986223, 17993535-17993559, 17997823-17997845, 17997871-17997894, 17997902-17997935, 18011652-18011685 |
280 | UNC119 | 17 | 0.73858921161826 | 189 | 723 | 23903483-23903498, 23903507-23903679 |
281 | SLC6A4 | 17 | 0.99841521394612 | 3 | 1893 | 25567358-25567360 |
282 | NF1 | 17 | 0.99495305164319 | 43 | 8520 | 26446454-26446456, 26446478-26446486, 26446493-26446513, 26577691-26577697, 26703497-26703499 |
283 | KRT10 | 17 | 0.86381766381766 | 239 | 1755 | 36228623-36228667, 36228686-36228836, 36228850-36228885, 36228928, 36232310-36232315 |
284 | KRT14 | 17 | 0.9753347427766 | 35 | 1419 | 36996529-36996563 |
285 | KRT16 | 17 | 0.9521800281294 | 68 | 1422 | 37019791-37019807, 37020143-37020150, 37020206-37020208, 37022348-37022362, 37022379-37022403 |
286 | KRT17 | 17 | 0.99923017705928 | 1 | 1299 | 37030493 |
287 | FKBP10 | 17 | 0.99828473413379 | 3 | 1749 | 37222819-37222821 |
288 | STAT5B | 17 | 0.99492385786802 | 12 | 2364 | 37624897-37624898, 37624947, 37624959-37624965, 37624973-37624974 |
289 | NAGLU | 17 | 0.88127240143369 | 265 | 2232 | 37941866-37942119, 37942147-37942155, 37942166-37942167 |
290 | WNK4 | 17 | 0.9949088960343 | 19 | 3732 | 38186307-38186315, 38186322-38186325, 38186336, 38186347-38186351 |
291 | SOST | 17 | 0.91277258566978 | 56 | 642 | 39188290, 39188315-39188324, 39188405-39188416, 39188441-39188471, 39188613-39188614 |
292 | NAGS | 17 | 0.92398753894081 | 122 | 1605 | 39437645-39437673, 39437730-39437734, 39437760-39437783, 39437825-39437839, 39438716-39438722, 39439021-39439038, 39439051-39439074 |
293 | SLC4A1 | 17 | 0.99890350877193 | 3 | 2736 | 39690419-39690421 |
294 | GRN | 17 | 0.91750841750842 | 147 | 1782 | 39782106-39782107, 39783596-39783604, 39785039-39785050, 39785082-39785098, 39785235-39785261, 39785394-39785395, 39785445-39785458, 39785555-39785557, 39785575-39785619, 39785637-39785652 |
295 | ITGA2B | 17 | 0.99775641025641 | 7 | 3120 | 39807906-39807909, 39816468-39816470 |
296 | PLEKHM1 | 17 | 0.99684642068748 | 10 | 3171 | 40878693, 40883780, 40886644-40886650, 40911232 |
297 | WNT3 | 17 | 0.98782771535581 | 13 | 1068 | 42206340, 42206365-42206375, 42206424 |
298 | ITGB3 | 17 | 0.98267849598648 | 41 | 2367 | 42686228-42686248, 42686272-42686291 |
299 | SGCA | 17 | 0.99828178694158 | 2 | 1164 | 45599763-45599764 |
300 | COL1A1 | 17 | 0.98862343572241 | 50 | 4395 | 45620938, 45621780-45621790, 45621805-45621817, 45631789-45631813 |
301 | NOG | 17 | 0.90557939914163 | 66 | 699 | 52026612-52026622, 52026637-52026664, 52026682-52026688, 52026767-52026778, 52026873-52026880 |
302 | TRIM37 | 17 | 0.99896373056995 | 3 | 2895 | 54460713-54460715 |
303 | CA4 | 17 | 0.99361022364217 | 6 | 939 | 55591488-55591490, 55591516-55591518 |
304 | TBX4 | 17 | 0.98901098901099 | 18 | 1638 | 56888663-56888670, 56888724-56888733 |
305 | ACE | 17 | 0.9191532772252 | 317 | 3921 | 58908188-58908436, 58928268, 58928299-58928323, 58928343-58928351, 58928417-58928449 |
306 | SCN4A | 17 | 0.99981854472872 | 1 | 5511 | 59382966 |
307 | SOX9 | 17 | 0.9 | 153 | 1530 | 67631527, 67631531, 67631576-67631582, 67631602-67631725, 67631742-67631751, 67631755, 67631827-67631835 |
308 | COG1 | 17 | 0.96058443764866 | 116 | 2943 | 68700810-68700814, 68700846-68700945, 68700963-68700969, 68701013, 68701016-68701017, 68701090 |
309 | TSEN54 | 17 | 0.93168880455408 | 108 | 1581 | 71024237-71024292, 71024424, 71024429, 71024441-71024444, 71024459-71024460, 71024463, 71024491-71024533 |
310 | ITGB4 | 17 | 0.97494971658438 | 137 | 5469 | 71238049-71238098, 71238123-71238130, 71250129-71250141, 71261540-71261585, 71263377-71263378, 71263387-71263391, 71263459-71263471 |
311 | UNC13D | 17 | 0.99052856706386 | 31 | 3273 | 71335652-71335655, 71338072-71338078, 71338085-71338088, 71338307, 71338324-71338326, 71343688-71343689, 71344350-71344352, 71344362-71344368 |
312 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 73006200-73006335 |
313 | GAA | 17 | 0.99755159146555 | 7 | 2859 | 75693177, 75700973, 75700985-75700989 |
314 | SGSH | 17 | 0.97349237905898 | 40 | 1509 | 75803482, 75808646-75808653, 75808671-75808701 |
315 | FSCN2 | 17 | 0.92954545454545 | 93 | 1320 | 77110337-77110340, 77114406-77114407, 77114430-77114434, 77114471-77114504, 77114510-77114524, 77114550-77114582 |
316 | TGIF1 | 18 | 0.99917081260365 | 1 | 1206 | 3442223 |
317 | NDUFV2 | 18 | 0.99866666666667 | 1 | 750 | 9092790 |
318 | AFG3L2 | 18 | 0.96324143692565 | 88 | 2394 | 12366986-12367020, 12367029-12367081 |
319 | NPC1 | 18 | 0.9981756580662 | 7 | 3837 | 19378943-19378944, 19378966, 19378985-19378988 |
320 | LAMA3 | 18 | 0.99450109978004 | 55 | 10002 | 19523646-19523681, 19523699-19523709, 19523786-19523792, 19547882 |
321 | DSC3 | 18 | 0.98736529171312 | 34 | 2691 | 26876583-26876616 |
322 | DSG2 | 18 | 0.98748882931189 | 42 | 3357 | 27332213-27332254 |
323 | LOXHD1 | 18 | 0.99022164276402 | 45 | 4602 | 42358532, 42372188, 42380856-42380875, 42380883-42380890, 42380896, 42380903, 42380907-42380917, 42380963-42380964 |
324 | MYO5B | 18 | 0.99441139354606 | 31 | 5547 | 45633951, 45633978-45634002, 45634015, 45683021-45683024 |
325 | SMAD4 | 18 | 0.99819168173599 | 3 | 1659 | 46847466-46847468 |
326 | FECH | 18 | 0.97596899224806 | 31 | 1290 | 53404789-53404819 |
327 | RAX | 18 | 0.80979827089337 | 198 | 1041 | 55087345-55087378, 55087388-55087394, 55087418-55087448, 55087459-55087554, 55087571-55087598, 55087655, 55091137 |
328 | CCBE1 | 18 | 0.98525798525799 | 18 | 1221 | 55285027-55285043, 55515535 |
329 | TNFRSF11A | 18 | 0.9708265802269 | 54 | 1851 | 58143566-58143605, 58143614-58143627 |
330 | CTDP1 | 18 | 0.91510741510742 | 245 | 2886 | 75540983-75540989, 75540996-75541181, 75541190-75541195, 75541218-75541225, 75614675-75614712 |
331 | ELANE | 19 | 0.82338308457711 | 142 | 804 | 803881-803912, 804262-804370, 807135 |
332 | KISS1R | 19 | 0.66416040100251 | 402 | 1197 | 868603-868641, 868733-868739, 869544-869545, 869567-869570, 869574-869579, 869586, 869590-869592, 869611-869668, 871051-871106, 871308-871465, 871570-871572, 871579-871587, 871616-871638, 871701-871710, 871726-871748 |
333 | STK11 | 19 | 0.99923195084485 | 1 | 1302 | 1171409 |
334 | NDUFS7 | 19 | 0.99844236760125 | 1 | 642 | 1341977 |
335 | GAMT | 19 | 0.94444444444444 | 45 | 810 | 1352305-1352314, 1352411-1352416, 1352421-1352426, 1352431-1352432, 1352440-1352460 |
336 | RAX2 | 19 | 0.85405405405405 | 81 | 555 | 3721666-3721698, 3721707-3721738, 3721748-3721753, 3721920-3721929 |
337 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4074781-4074872 |
338 | TUBB4 | 19 | 0.94232209737828 | 77 | 1335 | 6446324-6446350, 6446580-6446629 |
339 | C3 | 19 | 0.98277243589744 | 86 | 4992 | 6648450, 6658087-6658120, 6658131-6658137, 6658224-6658266, 6664518 |
340 | INSR | 19 | 0.98867196914919 | 47 | 4149 | 7135537-7135541, 7244825-7244831, 7244868-7244902 |
341 | MCOLN1 | 19 | 0.99770510613884 | 4 | 1743 | 7504502, 7504506-7504508 |
342 | PNPLA6 | 19 | 0.99824297188755 | 7 | 3984 | 7522248-7522254 |
343 | STXBP2 | 19 | 0.99775533108866 | 4 | 1782 | 7612929-7612930, 7617154-7617155 |
344 | TYK2 | 19 | 0.99915824915825 | 3 | 3564 | 10337406-10337408 |
345 | DNM2 | 19 | 0.93340987370838 | 174 | 2613 | 10689919-10690079, 10800817-10800825, 10802668-10802671 |
346 | PRKCSH | 19 | 0.98550724637681 | 23 | 1587 | 11419302, 11419331-11419352 |
347 | MAN2B1 | 19 | 0.99143610013175 | 26 | 3036 | 12619378-12619379, 12619388-12619398, 12620075, 12628849, 12628860-12628870 |
348 | GCDH | 19 | 0.99772209567198 | 3 | 1317 | 12863151-12863153 |
349 | CACNA1A | 19 | 0.87981407702523 | 905 | 7530 | 13179178, 13179249-13179273, 13179305-13179867, 13180598-13180603, 13270531-13270639, 13270674-13270697, 13270726-13270727, 13270771-13270777, 13270801-13270808, 13270820-13270843, 13477793-13477799, 13477812-13477855, 13477865-13477873, 13477878-13477883, 13477900-13477965, 13477977, 13477997-13477999 |
350 | NOTCH3 | 19 | 0.93942004019523 | 422 | 6966 | 15133203, 15133210, 15133254-15133260, 15142331-15142358, 15142511-15142515, 15142523, 15142540-15142543, 15142550-15142553, 15142580-15142586, 15149552-15149558, 15149566-15149599, 15149607-15149779, 15149801-15149810, 15149818-15149820, 15149848-15149882, 15172615-15172716 |
351 | CYP4F22 | 19 | 0.99937343358396 | 1 | 1596 | 15497324 |
352 | JAK3 | 19 | 0.98518518518519 | 50 | 3375 | 17801969-17801976, 17801981-17802002, 17802014-17802025, 17802356, 17803130, 17814309-17814314 |
353 | COMP | 19 | 0.9283201407212 | 163 | 2274 | 18760241-18760266, 18760405-18760438, 18760450-18760484, 18761751-18761759, 18761778-18761785, 18761798-18761815, 18761817-18761837, 18761867-18761871, 18761875-18761878, 18761883, 18761920-18761921 |
354 | CEBPA | 19 | 0.2711234911792 | 785 | 1077 | 38484277-38484285, 38484291-38484304, 38484325-38484328, 38484332, 38484371, 38484376, 38484381-38484382, 38484408-38485160 |
355 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 40213565-40213604 |
356 | MAG | 19 | 0.98245614035088 | 33 | 1881 | 40482321, 40482324, 40482477-40482479, 40482566-40482591, 40482978, 40482982 |
357 | PRODH2 | 19 | 0.97082557417753 | 47 | 1611 | 40989553-40989556, 40989803-40989821, 40995132-40995134, 40995139, 40995145-40995163, 40995176 |
358 | NPHS1 | 19 | 0.98282340311326 | 64 | 3726 | 41028423-41028468, 41028487-41028491, 41028512-41028517, 41028527-41028532, 41028752 |
359 | SDHAF1 | 19 | 0.91666666666667 | 29 | 348 | 41178017-41178027, 41178060, 41178067-41178081, 41178133-41178134 |
360 | RYR1 | 19 | 0.9693722299398 | 463 | 15117 | 43623245, 43668484, 43668511, 43668514, 43682293-43682297, 43705703, 43728968-43728971, 43728985-43729006, 43747462-43747470, 43747553-43747589, 43747599-43747894, 43747905-43747944, 43747953-43747976, 43747990-43748001, 43748150-43748152, 43754621, 43754632-43754634, 43754637, 43754653 |
361 | ACTN4 | 19 | 0.98611111111111 | 38 | 2736 | 43830276-43830280, 43830285-43830289, 43830295-43830300, 43830305-43830310, 43830314, 43830317, 43830340-43830343, 43908315-43908323, 43908333 |
362 | DLL3 | 19 | 0.8578352180937 | 264 | 1857 | 44685319-44685324, 44685337-44685339, 44685350-44685357, 44685359-44685366, 44685375-44685517, 44689674-44689731, 44689751-44689754, 44689782-44689796, 44689838-44689840, 44689866-44689881 |
363 | PRX | 19 | 0.99179206566347 | 36 | 4386 | 45592507, 45592517-45592520, 45593149-45593172, 45595271-45595277 |
364 | TGFB1 | 19 | 0.99062233589088 | 11 | 1173 | 46528860-46528861, 46550753-46550756, 46550776-46550780 |
365 | BCKDHA | 19 | 0.9932735426009 | 9 | 1338 | 46620855-46620862, 46620888 |
366 | ATP1A3 | 19 | 0.97688961392061 | 85 | 3678 | 47162845, 47162945-47162948, 47163153-47163173, 47172408-47172433, 47172444-47172445, 47172449-47172451, 47172512-47172516, 47172536-47172558 |
367 | ETHE1 | 19 | 0.99869281045752 | 1 | 765 | 48723124 |
368 | BCAM | 19 | 0.96184419713831 | 72 | 1887 | 50004231-50004243, 50004258-50004264, 50015819-50015825, 50015875-50015919 |
369 | APOE | 19 | 0.90985324947589 | 86 | 954 | 50103812-50103819, 50103830-50103834, 50103958-50103961, 50103968, 50104047-50104061, 50104075-50104101, 50104185-50104187, 50104233-50104243, 50104307-50104318 |
370 | BLOC1S3 | 19 | 0.8128078817734 | 114 | 609 | 50374728-50374780, 50374788-50374810, 50374875-50374909, 50374930-50374932 |
371 | ERCC2 | 19 | 0.9951817783618 | 11 | 2283 | 50558984-50558992, 50559008-50559009 |
372 | SIX5 | 19 | 0.82837837837838 | 381 | 2220 | 50962004-50962005, 50963405-50963415, 50963421-50963452, 50963483, 50963592-50963598, 50963603-50963615, 50963623-50963662, 50963668-50963942 |
373 | DMPK | 19 | 0.93174603174603 | 129 | 1890 | 50965644, 50966122, 50973236-50973237, 50977326-50977450 |
374 | FKRP | 19 | 0.80510752688172 | 290 | 1488 | 51950616-51950626, 51950670, 51950902-51950933, 51950978-51951013, 51951043-51951079, 51951096, 51951131-51951138, 51951181-51951211, 51951232-51951248, 51951262-51951316, 51951329-51951354, 51951394, 51951455-51951456, 51951470, 51951476-51951488, 51951502-51951519 |
375 | DBP | 19 | 0.79754601226994 | 198 | 978 | 53830649-53830834, 53830843-53830847, 53830923-53830926, 53830937-53830939 |
376 | MED25 | 19 | 0.99777183600713 | 5 | 2244 | 55024067, 55024070, 55027224-55027226 |
377 | PNKP | 19 | 0.97956577266922 | 32 | 1566 | 55057444, 55057607-55057629, 55057653-55057660 |
378 | MYH14 | 19 | 0.99650698602794 | 21 | 6012 | 55405790, 55425664-55425682, 55445699 |
379 | KCNC3 | 19 | 0.58311345646438 | 948 | 2274 | 55515315-55515402, 55518102-55518108, 55518209-55518227, 55518258-55518291, 55518373-55518379, 55523282-55523303, 55523309-55523325, 55523334-55523544, 55523551-55523674, 55523683-55523858, 55523864-55523867, 55523893-55523895, 55523904, 55523908-55523919, 55523929-55524151 |
380 | NLRP12 | 19 | 0.98524795982423 | 47 | 3186 | 58989149-58989155, 59005563-59005574, 59005645, 59005661-59005668, 59005677-59005695 |
381 | PRKCG | 19 | 0.88156638013372 | 248 | 2094 | 59077570-59077593, 59077628-59077638, 59084726-59084759, 59084765-59084811, 59084952-59085083 |
382 | TSEN34 | 19 | 0.9989281886388 | 1 | 933 | 59387072 |
383 | TNNT1 | 19 | 0.9868578255675 | 11 | 837 | 60349625-60349626, 60349637, 60349862, 60349872-60349878 |
384 | TNNI3 | 19 | 0.92575039494471 | 47 | 633 | 60359388-60359432, 60360297-60360298 |
385 | TPO | 2 | 0.97216274089936 | 78 | 2802 | 1460031-1460058, 1460234-1460244, 1460263-1460301 |
386 | RPS7 | 2 | 0.98290598290598 | 10 | 585 | 3601118-3601127 |
387 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10101295-10101336 |
388 | MYCN | 2 | 0.79856630824373 | 281 | 1395 | 15999840-15999846, 15999889-15999922, 15999975-16000003, 16000018-16000055, 16000115-16000287 |
389 | MATN3 | 2 | 0.91854893908282 | 119 | 1461 | 20075660, 20075664-20075665, 20075705-20075708, 20075756-20075758, 20075765-20075873 |
390 | APOB | 2 | 0.99496056091148 | 69 | 13692 | 21108765, 21120241-21120308 |
391 | POMC | 2 | 0.97885572139303 | 17 | 804 | 25237680-25237684, 25237863-25237867, 25237957-25237960, 25237971-25237973 |
392 | OTOF | 2 | 0.96496496496496 | 210 | 5994 | 26550918-26550924, 26551044-26551046, 26553263-26553415, 26553590-26553636 |
393 | EIF2B4 | 2 | 0.99877450980392 | 2 | 1632 | 27445837-27445838 |
394 | ALK | 2 | 0.99506477483035 | 24 | 4863 | 29316169-29316191, 29996794 |
395 | SPAST | 2 | 0.85575364667747 | 267 | 1851 | 32142506-32142546, 32142554-32142573, 32142581-32142778, 32142812-32142819 |
396 | CYP1B1 | 2 | 0.92647058823529 | 120 | 1632 | 38155598-38155599, 38155693, 38155698-38155719, 38155734-38155744, 38155763-38155842, 38155929-38155932 |
397 | ABCG5 | 2 | 0.97648261758691 | 46 | 1956 | 43912464-43912470, 43912474-43912477, 43912509-43912510, 43912613-43912623, 43912634-43912638, 43912657, 43912683-43912693, 43912705, 43912711-43912714 |
398 | LRPPRC | 2 | 0.99952210274791 | 2 | 4185 | 44076549-44076550 |
399 | SIX3 | 2 | 0.94794794794795 | 52 | 999 | 45022811-45022838, 45022849-45022851, 45022871-45022884, 45022890, 45023028-45023029, 45023097, 45023150-45023152 |
400 | EPCAM | 2 | 0.9978835978836 | 2 | 945 | 47450149-47450150 |
401 | MSH6 | 2 | 0.95052657359784 | 202 | 4083 | 47863877-47863991, 47864014-47864057, 47864063-47864105 |
402 | LHCGR | 2 | 0.99428571428571 | 12 | 2100 | 48836297-48836307, 48836313 |
403 | NRXN1 | 2 | 0.98440677966102 | 69 | 4425 | 50002850-50002852, 51108419, 51108434-51108437, 51108581, 51108605-51108612, 51108847-51108882, 51108893-51108900, 51108908-51108915 |
404 | EFEMP1 | 2 | 0.99527665317139 | 7 | 1482 | 55955658-55955664 |
405 | ATP6V1B1 | 2 | 0.97470817120623 | 39 | 1542 | 71016593-71016606, 71016616-71016640 |
406 | SPR | 2 | 0.72264631043257 | 218 | 786 | 72968070-72968233, 72968275-72968279, 72968293-72968320, 72968343-72968363 |
407 | ALMS1 | 2 | 0.99816058861164 | 23 | 12504 | 73466525, 73466539-73466555, 73530447-73530448, 73530473-73530475 |
408 | HTRA2 | 2 | 0.98765432098765 | 17 | 1377 | 74610809, 74610820, 74610829-74610838, 74610953-74610957 |
409 | SUCLG1 | 2 | 0.99903938520653 | 1 | 1041 | 84539843 |
410 | SFTPB | 2 | 0.99738219895288 | 3 | 1146 | 85748780-85748782 |
411 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86418113-86418144 |
412 | EIF2AK3 | 2 | 0.97224709042077 | 93 | 3351 | 88707769-88707776, 88707783-88707823, 88707841-88707884 |
413 | TMEM127 | 2 | 0.96094839609484 | 28 | 717 | 96294614-96294625, 96294639-96294644, 96294837-96294846 |
414 | ZAP70 | 2 | 0.98817204301075 | 22 | 1860 | 97707271, 97707280-97707286, 97707290, 97720516-97720517, 97720521, 97720528-97720537 |
415 | RANBP2 | 2 | 0.98180878552972 | 176 | 9675 | 108734186, 108734276, 108734506-108734520, 108736433-108736439, 108738064-108738094, 108741381-108741387, 108749694-108749706, 108749747-108749753, 108749786-108749828, 108750033-108750067, 108750104-108750110, 108750897-108750905 |
416 | MERTK | 2 | 0.978 | 66 | 3000 | 112372784-112372844, 112502847-112502850, 112502911 |
417 | GLI2 | 2 | 0.88741860953581 | 536 | 4761 | 121444476, 121444481-121444491, 121446086, 121462406, 121462416, 121462463-121462471, 121462479, 121462483, 121462551-121462600, 121462609-121462696, 121462707-121462886, 121462893-121462964, 121463008-121463017, 121463191, 121463523-121463527, 121463780, 121463788-121463812, 121463819-121463854, 121463890-121463891, 121463941-121463961, 121463966-121463968, 121464042-121464054, 121464085-121464087 |
418 | BIN1 | 2 | 0.99214365881033 | 14 | 1782 | 127580955-127580956, 127580978-127580989 |
419 | PROC | 2 | 0.88672438672439 | 157 | 1386 | 127895342-127895371, 127896976-127896983, 127897083-127897131, 127897137-127897158, 127897168-127897215 |
420 | CFC1 | 2 | 0.83630952380952 | 110 | 672 | 130996839-130996947, 130997276 |
421 | MCM6 | 2 | 0.99918896999189 | 2 | 2466 | 136350386-136350387 |
422 | ZEB2 | 2 | 0.98353909465021 | 60 | 3645 | 144863854-144863857, 144991326-144991334, 144991341-144991387 |
423 | MMADHC | 2 | 0.98765432098765 | 11 | 891 | 150146930-150146932, 150146936, 150146940-150146945, 150146978 |
424 | NEB | 2 | 0.99914889356163 | 17 | 19974 | 152054837, 152110758, 152205364-152205371, 152207964-152207970 |
425 | SCN2A | 2 | 0.99767364572948 | 14 | 6018 | 165878760, 165880232-165880242, 165919168-165919169 |
426 | SCN9A | 2 | 0.99713515335356 | 17 | 5934 | 166769205, 166849344, 166849349, 166849361-166849372, 166849391, 166871314 |
427 | ITGA6 | 2 | 0.9526862026862 | 155 | 3276 | 173000763-173000779, 173000797-173000805, 173000813-173000941 |
428 | CHRNA1 | 2 | 0.99927219796215 | 1 | 1374 | 175326675 |
429 | HOXD13 | 2 | 0.61627906976744 | 396 | 1032 | 176665865-176666097, 176666104-176666264, 176666305-176666306 |
430 | AGPS | 2 | 0.98634294385432 | 27 | 1977 | 177965838-177965861, 178034872, 178055068-178055069 |
431 | PRKRA | 2 | 0.99469214437367 | 5 | 942 | 179023997-179024001 |
432 | TTN | 2 | 0.99981046436231 | 19 | 100245 | 179100583-179100589, 179218906, 179218944-179218949, 179218954, 179218959-179218962 |
433 | COL3A1 | 2 | 0.99954555782777 | 2 | 4401 | 189562399, 189579913 |
434 | COL5A2 | 2 | 0.99977777777778 | 1 | 4500 | 189618193 |
435 | STAT1 | 2 | 0.99911229471815 | 2 | 2253 | 191568032-191568033 |
436 | CASP8 | 2 | 0.99938157081014 | 1 | 1617 | 201845667 |
437 | ABCA12 | 2 | 0.99922958397535 | 6 | 7788 | 215562565-215562567, 215610023-215610025 |
438 | WNT10A | 2 | 0.92503987240829 | 94 | 1254 | 219453981-219454008, 219465849-219465852, 219465938-219465944, 219465963-219466010, 219466142-219466148 |
439 | DES | 2 | 0.95116772823779 | 69 | 1413 | 219991476-219991497, 219991503, 219991507-219991512, 219991519-219991524, 219991533-219991548, 219991709, 219991838-219991840, 219991858-219991859, 219991953-219991964 |
440 | OBSL1 | 2 | 0.86979441222984 | 741 | 5691 | 220124529-220124532, 220124557-220124593, 220124646, 220124651, 220124723-220124726, 220124741, 220125114-220125117, 220125553-220125636, 220143480, 220143552-220143558, 220143590-220143597, 220143610-220144198 |
441 | COL4A3 | 2 | 0.99900259325753 | 5 | 5013 | 227871718-227871722 |
442 | SLC19A3 | 2 | 0.99396378269618 | 9 | 1491 | 228272274-228272282 |
443 | CHRND | 2 | 0.99227799227799 | 12 | 1554 | 233099174-233099184, 233106929 |
444 | CHRNG | 2 | 0.99099099099099 | 14 | 1554 | 233117402, 233117410, 233117413, 233117426-233117434, 233117439, 233117759 |
445 | COL6A3 | 2 | 0.99989511222991 | 1 | 9534 | 237952307 |
446 | AGXT | 2 | 0.99491094147583 | 6 | 1179 | 241456956-241456961 |
447 | D2HGDH | 2 | 0.9272030651341 | 114 | 1566 | 242323479, 242323491, 242355798, 242355842-242355845, 242355858, 242355869-242355871, 242355905-242355925, 242355932-242355935, 242355959-242356030, 242356036-242356041 |
448 | IDH3B | 20 | 0.98963730569948 | 12 | 1158 | 2588942-2588945, 2589175-2589182 |
449 | AVP | 20 | 0.33131313131313 | 331 | 495 | 3011292-3011331, 3011348-3011448, 3011623-3011699, 3011707-3011819 |
450 | PANK2 | 20 | 0.88324576765908 | 200 | 1713 | 3817790-3817793, 3817835-3817839, 3817849, 3817865-3817876, 3817881-3817882, 3817913-3817916, 3817921-3817931, 3817943-3817954, 3817957-3817970, 3817986-3817991, 3817997-3818030, 3818102-3818103, 3818109, 3818189-3818204, 3818212-3818217, 3818252-3818282, 3818288, 3818291, 3818314-3818316, 3818339-3818372 |
451 | PRNP | 20 | 0.99475065616798 | 4 | 762 | 4628112-4628115 |
452 | JAG1 | 20 | 0.98414000546896 | 58 | 3657 | 10602121-10602178 |
453 | C20orf7 | 20 | 0.97013487475915 | 31 | 1038 | 13730196-13730226 |
454 | THBD | 20 | 0.99363425925926 | 11 | 1728 | 22977461-22977467, 22977541-22977542, 22977708, 22977714 |
455 | SNTA1 | 20 | 0.84057971014493 | 242 | 1518 | 31463784-31463790, 31494830-31494835, 31494845-31494849, 31494864-31495087 |
456 | GDF5 | 20 | 0.99867197875166 | 2 | 1506 | 33488545, 33488548 |
457 | SAMHD1 | 20 | 0.98777246145667 | 23 | 1881 | 35013364-35013370, 35013394, 35013400-35013409, 35013416-35013420 |
458 | HNF4A | 20 | 0.98736842105263 | 18 | 1425 | 42486169-42486177, 42486182-42486187, 42486234-42486236 |
459 | ADA | 20 | 0.99450549450549 | 6 | 1092 | 42713632-42713636, 42713640 |
460 | CTSA | 20 | 0.98797595190381 | 18 | 1497 | 43953648-43953665 |
461 | CD40 | 20 | 0.99640287769784 | 3 | 834 | 44190973-44190975 |
462 | SLC2A10 | 20 | 0.99630996309963 | 6 | 1626 | 44771783-44771786, 44787538, 44788297 |
463 | VAPB | 20 | 0.9207650273224 | 58 | 732 | 56397922-56397979 |
464 | GNAS | 20 | 0.97289972899729 | 20 | 738 | 56848623-56848627, 56848636, 56848646, 56848715-56848727 |
465 | GNAS | 20 | 0.96499678869621 | 109 | 3114 | 56862489, 56862711-56862713, 56862815-56862819, 56862874-56862877, 56862926, 56863015, 56863042-56863048, 56863150-56863154, 56863197-56863200, 56863211, 56863223-56863227, 56863235-56863237, 56863275-56863281, 56863340-56863343, 56863349-56863371, 56863386-56863393, 56863499-56863502, 56863642-56863648, 56863678-56863692, 56863771 |
466 | EDN3 | 20 | 0.99023709902371 | 7 | 717 | 57309926-57309932 |
467 | COL9A3 | 20 | 0.95474452554745 | 93 | 2055 | 60918862-60918939, 60919400-60919404, 60919413-60919415, 60919428-60919430, 60926811-60926814 |
468 | CHRNA4 | 20 | 0.96496815286624 | 66 | 1884 | 61451703-61451705, 61452035-61452069, 61462920-61462941, 61462956-61462961 |
469 | KCNQ2 | 20 | 0.94768995799924 | 137 | 2619 | 61508805, 61547101-61547102, 61573965-61573977, 61574045-61574081, 61574090-61574109, 61574126-61574139, 61574145-61574181, 61574223-61574229, 61574239-61574244 |
470 | SOX18 | 20 | 0.22251082251082 | 898 | 1155 | 62149997-62149999, 62150174-62150217, 62150230-62150552, 62150590-62150759, 62150956-62151313 |
471 | APP | 21 | 0.99005620406399 | 23 | 2313 | 26464753-26464760, 26464773-26464787 |
472 | BACH1 | 21 | 0.99547715965626 | 10 | 2211 | 29636936-29636945 |
473 | IFNGR2 | 21 | 0.91617357001972 | 85 | 1014 | 33697720-33697792, 33715693-33715704 |
474 | RCAN1 | 21 | 0.66798418972332 | 252 | 759 | 34908929-34909180 |
475 | RUNX1 | 21 | 0.95564795564796 | 64 | 1443 | 35086312-35086326, 35086333-35086338, 35086423-35086426, 35181168-35181174, 35181220-35181251 |
476 | CSTB | 21 | 0.78114478114478 | 65 | 297 | 44020514-44020578 |
477 | AIRE | 21 | 0.90537240537241 | 155 | 1638 | 44530318-44530449, 44537429, 44537470-44537486, 44538721-44538725 |
478 | ITGB2 | 21 | 0.94285714285714 | 132 | 2310 | 45131187-45131189, 45133036-45133128, 45133142-45133146, 45133151, 45133190-45133205, 45133214-45133227 |
479 | COL18A1 | 21 | 0.98114035087719 | 86 | 4560 | 45699912-45699916, 45712603, 45712607, 45712620, 45712627, 45731280-45731289, 45748838-45748864, 45749476-45749486, 45749565-45749592, 45754467 |
480 | COL6A1 | 21 | 0.96145124716553 | 119 | 3087 | 46226193-46226214, 46226223-46226271, 46234612-46234615, 46234619-46234622, 46234720-46234733, 46234737-46234743, 46247825-46247835, 46247841-46247845, 46247955-46247957 |
481 | COL6A2 | 21 | 0.99869281045752 | 4 | 3060 | 46355899-46355902 |
482 | FTCD | 21 | 0.96986469864699 | 49 | 1626 | 46389852, 46389897-46389901, 46389910, 46389914-46389920, 46390160-46390189, 46390199-46390203 |
483 | PCNT | 21 | 0.99370692238538 | 63 | 10011 | 46568623-46568624, 46611223, 46611245-46611246, 46635554, 46655877-46655886, 46655892, 46661143-46661165, 46672746-46672762, 46672825, 46676282-46676283, 46680434, 46682521-46682522 |
484 | PEX26 | 22 | 0.99673202614379 | 3 | 918 | 16941230-16941232 |
485 | PRODH | 22 | 0.87742651136994 | 221 | 1803 | 17288859-17288861, 17288869-17288881, 17288888-17288915, 17303581-17303615, 17303629-17303636, 17303642-17303684, 17303690-17303752, 17303768-17303780, 17303786-17303800 |
486 | GP1BB | 22 | 0.28341384863124 | 445 | 621 | 18091447-18091476, 18091485-18091561, 18091569-18091838, 18091844-18091911 |
487 | TBX1 | 22 | 0.37231182795699 | 934 | 1488 | 18128428-18128803, 18133302-18133348, 18133433-18133481, 18133488-18133525, 18133912-18134051, 18134057-18134237, 18134248-18134259, 18134269-18134325, 18134347-18134374, 18134385-18134390 |
488 | SMARCB1 | 22 | 0.93350604490501 | 77 | 1158 | 22459357-22459404, 22459412-22459427, 22459437-22459449 |
489 | UPB1 | 22 | 0.98181818181818 | 21 | 1155 | 23236781-23236801 |
490 | HPS4 | 22 | 0.99952651515152 | 1 | 2112 | 25179258 |
491 | CHEK2 | 22 | 0.95627484383873 | 77 | 1761 | 27413885-27413912, 27413948-27413965, 27415165-27415171, 27421139-27421145, 27421737-27421743, 27421781, 27421788, 27421837-27421844 |
492 | SLC5A1 | 22 | 0.99498746867168 | 10 | 1995 | 30793983-30793986, 30825199-30825204 |
493 | TIMP3 | 22 | 0.9937106918239 | 4 | 636 | 31528053-31528054, 31528072-31528073 |
494 | SOX10 | 22 | 0.93290506780871 | 94 | 1401 | 36709493, 36709530-36709531, 36709614-36709662, 36709679-36709720 |
495 | EP300 | 22 | 0.97446514837819 | 185 | 7245 | 39903997, 39904022-39904027, 39904068-39904194, 39904202-39904210, 39904245-39904268, 39904343-39904360 |
496 | TNFRSF13C | 22 | 0.66306306306306 | 187 | 555 | 40652168-40652281, 40652597-40652633, 40652639-40652669, 40652716-40652720 |
497 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 41375245-41375265 |
498 | ATXN10 | 22 | 0.96358543417367 | 52 | 1428 | 44446608-44446610, 44446616, 44446619-44446635, 44446675-44446705 |
499 | TRMU | 22 | 0.99921011058452 | 1 | 1266 | 45110342 |
500 | MLC1 | 22 | 0.98236331569665 | 20 | 1134 | 48844590-48844599, 48844620-48844626, 48844737-48844739 |
501 | TYMP | 22 | 0.73153899240856 | 389 | 1449 | 49311079-49311080, 49311084, 49311096, 49311103, 49311107-49311108, 49311117-49311122, 49311130-49311131, 49311136-49311177, 49311187-49311191, 49311296-49311436, 49311541-49311725, 49311769 |
502 | ARSA | 22 | 0.96784776902887 | 49 | 1524 | 49410524-49410525, 49410543-49410560, 49410662-49410685, 49410694, 49410703, 49410970-49410972 |
503 | SHANK3 | 22 | 0.72501906941266 | 1442 | 5244 | 49459936-49459998, 49460466, 49482571, 49482578, 49482817-49483009, 49505574-49506174, 49506239-49506242, 49506247, 49506271-49506284, 49506297-49506320, 49506379-49506383, 49506742, 49516033, 49516054-49516090, 49516099-49516137, 49516151-49516606 |
504 | SUMF1 | 3 | 0.99022222222222 | 11 | 1125 | 4433815-4433825 |
505 | FANCD2 | 3 | 0.99388586956522 | 27 | 4416 | 10060536, 10063340-10063346, 10066149-10066156, 10089937-10089947 |
506 | XPC | 3 | 0.99964576691463 | 1 | 2823 | 14162442 |
507 | COLQ | 3 | 0.99634502923977 | 5 | 1368 | 15538095-15538099 |
508 | TGFBR2 | 3 | 0.99662731871838 | 6 | 1779 | 30623441, 30708007-30708009, 30708012-30708013 |
509 | GLB1 | 3 | 0.968534906588 | 64 | 2034 | 33113507-33113570 |
510 | CRTAP | 3 | 0.71807628524046 | 340 | 1206 | 33130574-33130611, 33130623-33130651, 33130670-33130718, 33130738-33130771, 33130778-33130940, 33130976-33131002 |
511 | SCN5A | 3 | 0.99983473805982 | 1 | 6051 | 38623167 |
512 | ABHD5 | 3 | 0.97142857142857 | 30 | 1050 | 43707489-43707511, 43707529-43707535 |
513 | TMIE | 3 | 0.85838779956427 | 65 | 459 | 46717870-46717911, 46717932-46717938, 46717945-46717946, 46717953-46717966 |
514 | COL7A1 | 3 | 0.99784946236559 | 19 | 8835 | 48602070-48602080, 48602139-48602146 |
515 | GNAT1 | 3 | 0.98385565052232 | 17 | 1053 | 50206643-50206658, 50207274 |
516 | RFT1 | 3 | 0.97908979089791 | 34 | 1626 | 53131455-53131487, 53131606 |
517 | TKT | 3 | 0.94284188034188 | 107 | 1872 | 53264892-53264998 |
518 | FLNB | 3 | 0.99833525419388 | 13 | 7809 | 57969393-57969399, 58091644-58091645, 58109049-58109052 |
519 | PDHB | 3 | 0.99722222222222 | 3 | 1080 | 58394441-58394443 |
520 | ATXN7 | 3 | 0.88548273431994 | 325 | 2838 | 63873315-63873639 |
521 | MITF | 3 | 0.99680102367242 | 5 | 1563 | 69871528-69871531, 70011004 |
522 | PROK2 | 3 | 0.94871794871795 | 20 | 390 | 71916821-71916826, 71916832-71916839, 71916850-71916854, 71916861 |
523 | ROBO2 | 3 | 0.99927483683829 | 3 | 4137 | 77682707, 77720668-77720669 |
524 | CHMP2B | 3 | 0.98598130841122 | 9 | 642 | 87381777, 87381781, 87381784-87381785, 87381796-87381800 |
525 | PROS1 | 3 | 0.99606105366814 | 8 | 2031 | 95078544-95078551 |
526 | CPOX | 3 | 0.86153846153846 | 189 | 1365 | 99794615-99794617, 99794625, 99794630-99794643, 99794723-99794748, 99794757-99794792, 99794819-99794827, 99794835-99794850, 99794863-99794925, 99794931-99794947, 99795000, 99795003, 99795011, 99795016 |
527 | GP9 | 3 | 0.95880149812734 | 22 | 534 | 130263423-130263426, 130263568-130263585 |
528 | NPHP3 | 3 | 0.92461808164288 | 301 | 3993 | 133892101, 133918337-133918338, 133921254-133921364, 133923703-133923889 |
529 | FOXL2 | 3 | 0.56498673740053 | 492 | 1131 | 140147242-140147257, 140147294-140147653, 140147665-140147725, 140147751-140147754, 140147801-140147820, 140147893, 140148050-140148079 |
530 | PLOD2 | 3 | 0.99868247694335 | 3 | 2277 | 147287320, 147361419, 147361422 |
531 | PLD1 | 3 | 0.99937984496124 | 2 | 3225 | 172938142-172938143 |
532 | SOX2 | 3 | 0.96540880503145 | 33 | 954 | 182912884-182912888, 182912914-182912926, 182912934-182912938, 182913048-182913055, 182913111-182913112 |
533 | CCDC50 | 3 | 0.99792960662526 | 3 | 1449 | 192530170-192530172 |
534 | PDE6B | 4 | 0.99805068226121 | 5 | 2565 | 609518-609520, 637908, 647638 |
535 | IDUA | 4 | 0.77471967380224 | 442 | 1962 | 970874-970889, 970896, 970906-970915, 970928-970935, 970967-970982, 986189, 986237-986240, 986244-986247, 986520-986732, 986824-986945, 987133-987137, 987165-987200, 987231, 987234-987237, 987243 |
536 | FGFR3 | 4 | 0.95869475423379 | 100 | 2421 | 1765475-1765483, 1773010-1773046, 1773167-1773170, 1773260-1773268, 1778084-1778090, 1778380-1778386, 1778444-1778454, 1778702, 1778711, 1778753-1778756, 1778778-1778787 |
537 | SH3BP2 | 4 | 0.99288256227758 | 12 | 1686 | 2805278-2805281, 2805296-2805302, 2805307 |
538 | HTT | 4 | 0.97592533672712 | 227 | 9429 | 3046351-3046385, 3046393-3046501, 3046519-3046578, 3046598, 3046602-3046607, 3097081, 3097086-3097088, 3211420-3211431 |
539 | DOK7 | 4 | 0.92475247524752 | 114 | 1515 | 3434901-3434954, 3435031-3435076, 3447873-3447879, 3464654-3464660 |
540 | DOK7 | 4 | 0.98815566835871 | 7 | 591 | 3464654-3464660 |
541 | MSX1 | 4 | 0.76425438596491 | 215 | 912 | 4912528-4912679, 4912685-4912722, 4912746-4912770 |
542 | EVC2 | 4 | 0.98446651387828 | 61 | 3927 | 5628962-5628982, 5628989-5629007, 5629021-5629032, 5761022-5761030 |
543 | EVC | 4 | 0.94595501846257 | 161 | 2979 | 5764009-5764144, 5764153-5764163, 5860879, 5860887, 5860894-5860905 |
544 | WFS1 | 4 | 0.99401421623644 | 16 | 2673 | 6354035-6354041, 6354163-6354171 |
545 | SLC2A9 | 4 | 0.99753542821935 | 4 | 1623 | 9531236-9531239 |
546 | QDPR | 4 | 0.88027210884354 | 88 | 735 | 17122671-17122708, 17122726-17122775 |
547 | SGCB | 4 | 0.96342737722048 | 35 | 957 | 52585041-52585042, 52599150-52599182 |
548 | KIT | 4 | 0.98635278062095 | 40 | 2931 | 55218939-55218964, 55218982-55218995 |
549 | ENAM | 4 | 0.99766695829688 | 8 | 3429 | 71718909-71718916 |
550 | SLC4A4 | 4 | 0.99969135802469 | 1 | 3240 | 72525303 |
551 | COQ2 | 4 | 0.90995670995671 | 104 | 1155 | 84424727-84424740, 84424773-84424814, 84424893-84424940 |
552 | DMP1 | 4 | 0.98767833981842 | 19 | 1542 | 88803014-88803019, 88803024, 88803030-88803041 |
553 | PKD2 | 4 | 0.8390092879257 | 468 | 2907 | 89147910-89148377 |
554 | MTTP | 4 | 0.99739292364991 | 7 | 2685 | 100748958-100748959, 100748985-100748988, 100749048 |
555 | CISD2 | 4 | 0.97303921568627 | 11 | 408 | 104027948-104027958 |
556 | TACR3 | 4 | 0.98569384835479 | 20 | 1398 | 104860192-104860198, 104860266-104860278 |
557 | PITX2 | 4 | 0.99692307692308 | 3 | 975 | 111761916-111761918 |
558 | ANK2 | 4 | 0.99949469429005 | 6 | 11874 | 114398966-114398971 |
559 | BBS7 | 4 | 0.99720670391061 | 6 | 2148 | 122984595-122984596, 122986195-122986198 |
560 | NR3C2 | 4 | 0.99830795262267 | 5 | 2955 | 149295420, 149295424-149295427 |
561 | CTSO | 4 | 0.94824016563147 | 50 | 966 | 157083001-157083038, 157083047-157083058 |
562 | GLRB | 4 | 0.99933065595716 | 1 | 1494 | 158311297 |
563 | GK | 4 | 0.93922984356197 | 101 | 1662 | 166418615, 166418808-166418842, 166418873-166418882, 166418917-166418923, 166419013-166419059, 166419568 |
564 | SLC25A4 | 4 | 0.87625418060201 | 111 | 897 | 186301521-186301631 |
565 | F11 | 4 | 0.99946751863685 | 1 | 1878 | 187445832 |
566 | SDHA | 5 | 0.88070175438596 | 238 | 1995 | 271471-271533, 276682-276683, 277475, 277630-277636, 304108-304149, 304190-304218, 304466-304506, 304538-304544, 307526-307532, 307571-307602, 309511-309517 |
567 | SLC6A19 | 5 | 0.9994750656168 | 1 | 1905 | 1254815 |
568 | TERT | 5 | 0.88908502500736 | 377 | 3399 | 1347434-1347435, 1347505, 1347508, 1347516, 1347572-1347613, 1347635-1347648, 1347668-1347781, 1347886-1347970, 1347988-1348104 |
569 | SLC6A3 | 5 | 0.99194847020934 | 15 | 1863 | 1467823-1467824, 1467882-1467894 |
570 | DNAH5 | 5 | 0.99574774774775 | 59 | 13875 | 13969459, 13969485-13969501, 13969535, 13972305-13972344 |
571 | FAM134B | 5 | 0.84404283801874 | 233 | 1494 | 16669780-16669785, 16669795-16669901, 16669947-16669955, 16669970-16670080 |
572 | SLC45A2 | 5 | 0.99748901443817 | 4 | 1593 | 34020212-34020213, 34020235-34020236 |
573 | AMACR | 5 | 0.98433420365535 | 18 | 1149 | 34043675-34043677, 34043836-34043846, 34043856-34043859 |
574 | NIPBL | 5 | 0.98300653594771 | 143 | 8415 | 37072238-37072245, 37072265-37072292, 37072315-37072346, 37084361-37084386, 37084407-37084442, 37084450-37084462 |
575 | LIFR | 5 | 0.99271402550091 | 24 | 3294 | 38541764-38541787 |
576 | ERCC8 | 5 | 0.98488664987406 | 18 | 1191 | 60276516-60276533 |
577 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 69398705 |
578 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 70274129 |
579 | HEXB | 5 | 0.95631358467983 | 73 | 1671 | 74016879-74016886, 74016977-74016984, 74016997-74017038, 74017052-74017066 |
580 | AP3B1 | 5 | 0.99452054794521 | 18 | 3285 | 77494453-77494460, 77599166-77599175 |
581 | ARSB | 5 | 0.80524344569288 | 312 | 1602 | 78316516-78316827 |
582 | VCAN | 5 | 0.99872436463546 | 13 | 10191 | 82871971-82871983 |
583 | RASA1 | 5 | 0.95610687022901 | 138 | 3144 | 86600541-86600542, 86705736-86705753, 86705776-86705893 |
584 | GPR98 | 5 | 0.99978859468316 | 4 | 18921 | 89950719-89950721, 90042554 |
585 | WDR36 | 5 | 0.99544817927171 | 13 | 2856 | 110464229-110464241 |
586 | HSD17B4 | 5 | 0.99864314789688 | 3 | 2211 | 118863069-118863070, 118889617 |
587 | HSD17B4 | 5 | 0.99645390070922 | 1 | 282 | 118889617 |
588 | LMNB1 | 5 | 0.97217490062465 | 49 | 1761 | 126141156-126141188, 126141364-126141375, 126141380-126141383 |
589 | FBN2 | 5 | 0.99393523286417 | 53 | 8739 | 127642371-127642398, 127673680-127673683, 127901094-127901098, 127901108-127901123 |
590 | SLC22A5 | 5 | 0.99581839904421 | 7 | 1674 | 131733711-131733717 |
591 | MYOT | 5 | 0.99331997327989 | 10 | 1497 | 137249749, 137249752-137249753, 137250841-137250847 |
592 | MATR3 | 5 | 0.98663522012579 | 34 | 2544 | 138679712-138679715, 138686430-138686458, 138686475 |
593 | DIAPH1 | 5 | 0.98062319979052 | 74 | 3819 | 140933547-140933549, 140933618-140933624, 140933631, 140933641-140933642, 140933658-140933699, 140933742-140933760 |
594 | PPP2R2B | 5 | 0.99324324324324 | 9 | 1332 | 146057834-146057842 |
595 | PDE6A | 5 | 0.99961285327139 | 1 | 2583 | 149263406 |
596 | TCOF1 | 5 | 0.99977027337468 | 1 | 4353 | 149735982 |
597 | NIPAL4 | 5 | 0.99643112062812 | 5 | 1401 | 156819810-156819814 |
598 | NKX2-5 | 5 | 0.99794871794872 | 2 | 975 | 172594504-172594505 |
599 | MSX2 | 5 | 0.93283582089552 | 54 | 804 | 174084322-174084342, 174084359-174084375, 174084414-174084420, 174084428-174084432, 174084447, 174084452, 174084646-174084647 |
600 | F12 | 5 | 0.995670995671 | 8 | 1848 | 176763534-176763541 |
601 | GRM6 | 5 | 0.84851936218679 | 399 | 2634 | 178348593-178348616, 178348624-178348631, 178354185-178354551 |
602 | SQSTM1 | 5 | 0.87074829931973 | 171 | 1323 | 179180549-179180719 |
603 | FLT4 | 5 | 0.9692082111437 | 126 | 4092 | 179975989-179975995, 179978660-179978666, 179978714-179978715, 179978954-179978962, 179978967, 179979297-179979301, 179979322-179979358, 180009094-180009151 |
604 | FOXC1 | 6 | 0.48616125150421 | 854 | 1662 | 1555832-1555860, 1555886, 1555892, 1556075-1556104, 1556184-1556191, 1556310-1557044, 1557054-1557068, 1557082-1557111, 1557136-1557140 |
605 | TUBB2B | 6 | 0.97010463378176 | 40 | 1338 | 3169997-3170017, 3170155-3170164, 3170401-3170402, 3170576-3170582 |
606 | DSP | 6 | 0.99883936861653 | 10 | 8616 | 7487216, 7487219, 7487304-7487310, 7487316 |
607 | TFAP2A | 6 | 0.99923195084485 | 1 | 1302 | 10518389 |
608 | DTNBP1 | 6 | 0.9592803030303 | 43 | 1056 | 15771037-15771079 |
609 | ATXN1 | 6 | 0.9375 | 153 | 2448 | 16435462-16435469, 16435509-16435512, 16435591-16435616, 16435627-16435632, 16435830-16435938 |
610 | NHLRC1 | 6 | 0.98232323232323 | 21 | 1188 | 18230212, 18230501-18230508, 18230643-18230654 |
611 | ALDH5A1 | 6 | 0.92289010321797 | 127 | 1647 | 24603290-24603293, 24603297-24603304, 24603312-24603367, 24603375-24603382, 24603390-24603440 |
612 | HLA-H | 6 | 0.93466666666667 | 49 | 750 | 29963799, 29963877-29963883, 29964344-29964384 |
613 | CYP21A2 | 6 | 0.9616935483871 | 57 | 1488 | 32115761-32115772, 32115825-32115847, 32115935-32115949, 32116838-32116844 |
614 | TNXB | 6 | 0.9911226333569 | 113 | 12729 | 32117544-32117550, 32117610-32117643, 32118102-32118108, 32118548-32118554, 32118708-32118714, 32120255-32120298, 32120962-32120968 |
615 | HLA-DQB1 | 6 | 0.91094147582697 | 70 | 786 | 32740577, 32740663-32740670, 32740686-32740726, 32740796, 32742344-32742362 |
616 | COL11A2 | 6 | 0.98522356553445 | 77 | 5211 | 33248090-33248122, 33248324-33248325, 33248335-33248347, 33248361-33248389 |
617 | SYNGAP1 | 6 | 0.90393779784299 | 383 | 3987 | 33496065-33496086, 33501554-33501658, 33507956-33507957, 33517087, 33519359-33519368, 33519438-33519676, 33519698-33519701 |
618 | FANCE | 6 | 0.99937926753569 | 1 | 1611 | 35528533 |
619 | TULP1 | 6 | 0.9975445058318 | 4 | 1629 | 35581840-35581843 |
620 | PEX6 | 6 | 0.96024464831804 | 117 | 2943 | 43054521, 43054533, 43054593-43054599, 43054619-43054723, 43054768-43054770 |
621 | CUL7 | 6 | 0.99921522464195 | 4 | 5097 | 43116321-43116322, 43123942-43123943 |
622 | RSPH9 | 6 | 0.94464500601685 | 46 | 831 | 43720846-43720847, 43720881-43720923, 43720966 |
623 | RUNX2 | 6 | 0.89039548022599 | 194 | 1770 | 45498308-45498501 |
624 | MUT | 6 | 0.99911229471815 | 2 | 2253 | 49517642, 49527300 |
625 | LMBRD1 | 6 | 0.99938385705484 | 1 | 1623 | 70563469 |
626 | RIMS1 | 6 | 0.97853908249655 | 109 | 5079 | 72946121-72946122, 72949026-72949064, 72949075-72949119, 72949155-72949159, 72949206-72949212, 73165507-73165517 |
627 | SLC17A5 | 6 | 0.9616935483871 | 57 | 1488 | 74420238-74420279, 74420285-74420299 |
628 | BCKDHB | 6 | 0.97709923664122 | 27 | 1179 | 80937718-80937744 |
629 | NDUFAF4 | 6 | 0.98295454545455 | 9 | 528 | 97445837-97445845 |
630 | SEC63 | 6 | 0.99386771791502 | 14 | 2283 | 108385796-108385799, 108385897-108385906 |
631 | OSTM1 | 6 | 0.94029850746269 | 60 | 1005 | 108502442-108502457, 108502467-108502510 |
632 | COL10A1 | 6 | 0.99706314243759 | 6 | 2043 | 116549059-116549064 |
633 | GJA1 | 6 | 0.99390774586597 | 7 | 1149 | 121810621-121810627 |
634 | LAMA2 | 6 | 0.99775712912528 | 21 | 9363 | 129677605-129677611, 129677617, 129677623-129677635 |
635 | ENPP1 | 6 | 0.99389778794813 | 16 | 2622 | 132171025-132171027, 132245261-132245273 |
636 | EYA4 | 6 | 0.996875 | 6 | 1920 | 133810959-133810964 |
637 | AHI1 | 6 | 0.99916457811195 | 3 | 3591 | 135794039-135794041 |
638 | PEX7 | 6 | 0.93518518518519 | 63 | 972 | 137185497-137185529, 137185552-137185561, 137185565-137185569, 137185573-137185581, 137185586-137185590, 137209008 |
639 | EPM2A | 6 | 0.71084337349398 | 288 | 996 | 146098027-146098314 |
640 | IYD | 6 | 0.99310344827586 | 6 | 870 | 150760931-150760936 |
641 | SYNE1 | 6 | 0.99928013942563 | 19 | 26394 | 152587476-152587492, 152861576-152861577 |
642 | PARK2 | 6 | 0.99713876967096 | 4 | 1398 | 161889956-161889959 |
643 | TBP | 6 | 0.90098039215686 | 101 | 1020 | 170712935-170713034, 170713051 |
644 | LFNG | 7 | 0.64385964912281 | 406 | 1140 | 2526022-2526427 |
645 | PMS2 | 7 | 0.98455001931248 | 40 | 2589 | 5979571-5979578, 5979676-5979682, 5984839-5984849, 5993575-5993581, 6012049-6012055 |
646 | TWIST1 | 7 | 0.58949096880131 | 250 | 609 | 19122920-19122924, 19123088-19123097, 19123179-19123187, 19123190, 19123224-19123230, 19123252-19123469 |
647 | DNAH11 | 7 | 0.99977895667551 | 3 | 13572 | 21594290, 21597097, 21824432 |
648 | HOXA1 | 7 | 0.99702380952381 | 3 | 1008 | 27101842-27101844 |
649 | HOXA13 | 7 | 0.58954584404456 | 479 | 1167 | 27205608-27205636, 27205647-27205653, 27205779-27206221 |
650 | GARS | 7 | 0.99054054054054 | 21 | 2220 | 30601199, 30601209-30601216, 30607319-30607330 |
651 | RP9 | 7 | 0.76876876876877 | 154 | 666 | 33101425, 33103477, 33115358-33115509 |
652 | BBS9 | 7 | 0.9984984984985 | 4 | 2664 | 33270494-33270497 |
653 | GLI3 | 7 | 0.9932532152646 | 32 | 4743 | 41971802-41971803, 41972049-41972056, 41972062-41972069, 41972151, 41972187-41972193, 41972203, 41972474, 41972481-41972484 |
654 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45006458-45006487 |
655 | DDC | 7 | 0.999306999307 | 1 | 1443 | 50564497 |
656 | GRB10 | 7 | 0.99943977591036 | 1 | 1785 | 50739046 |
657 | EGFR | 7 | 0.97550233966419 | 89 | 3633 | 55054465-55054552, 55240556 |
658 | GUSB | 7 | 0.99846625766871 | 3 | 1956 | 65076782, 65076785-65076786 |
659 | ASL | 7 | 0.93906810035842 | 85 | 1395 | 65191315-65191325, 65191513-65191539, 65191549-65191595 |
660 | KCTD7 | 7 | 0.83448275862069 | 144 | 870 | 65731487-65731630 |
661 | ELN | 7 | 0.98666666666667 | 29 | 2175 | 73080471-73080487, 73080499-73080507, 73104217-73104219 |
662 | NCF1 | 7 | 0.90878090366581 | 107 | 1173 | 73831575-73831607, 73835259-73835265, 73835324, 73840362-73840368, 73840839-73840864, 73840934-73840959, 73841359-73841365 |
663 | POR | 7 | 0.99461576113558 | 11 | 2043 | 75452396, 75452413-75452422 |
664 | HSPB1 | 7 | 0.82362459546926 | 109 | 618 | 75770111-75770112, 75770126, 75770131, 75770143, 75770146, 75770174-75770190, 75770200-75770205, 75770211-75770214, 75770220-75770222, 75770233-75770238, 75770244-75770253, 75770260-75770308, 75770319-75770326 |
665 | COL1A2 | 7 | 0.98536942209217 | 60 | 4101 | 93868854, 93890295-93890298, 93890309, 93890314-93890316, 93890323-93890325, 93894436-93894482, 93896562 |
666 | TFR2 | 7 | 0.99376558603491 | 15 | 2406 | 100067393-100067395, 100076579-100076584, 100076591-100076596 |
667 | RELN | 7 | 0.99874722944974 | 13 | 10377 | 103032124-103032132, 103417036-103417039 |
668 | SLC26A4 | 7 | 0.99359795134443 | 15 | 2343 | 107110891-107110899, 107110903-107110908 |
669 | SLC26A3 | 7 | 0.99782135076253 | 5 | 2295 | 107219596-107219600 |
670 | IFRD1 | 7 | 0.99410029498525 | 8 | 1356 | 111889360-111889367 |
671 | CFTR | 7 | 0.97096556380824 | 129 | 4443 | 116975949-116975989, 116975996-116976036, 116976074-116976089, 117022279-117022309 |
672 | AASS | 7 | 0.99856166846458 | 4 | 2781 | 121556745-121556748 |
673 | IMPDH1 | 7 | 0.91944444444444 | 145 | 1800 | 127833072-127833078, 127833093, 127833096, 127833130-127833138, 127833147-127833154, 127837073-127837191 |
674 | FLNC | 7 | 0.99584250427978 | 34 | 8178 | 128257928-128257929, 128257953-128257957, 128258133, 128258248-128258250, 128264510-128264531, 128277767 |
675 | ATP6V0A4 | 7 | 0.99564011097899 | 11 | 2523 | 138044916-138044925, 138087953 |
676 | BRAF | 7 | 0.99521946979574 | 11 | 2301 | 140270873-140270883 |
677 | CNTNAP2 | 7 | 0.9994994994995 | 2 | 3996 | 145444905-145444906 |
678 | KCNH2 | 7 | 0.77614942528736 | 779 | 3480 | 150275349-150275370, 150275390-150275415, 150275627-150275701, 150275708-150275736, 150275752-150275755, 150275823, 150275862, 150279508, 150279728-150279751, 150286080-150286090, 150286144-150286459, 150286480-150286481, 150302772-150302962, 150305859-150305934 |
679 | PRKAG2 | 7 | 0.95906432748538 | 70 | 1710 | 150960088-150960157 |
680 | SHH | 7 | 0.62131029517639 | 526 | 1389 | 155288355-155288820, 155288833-155288841, 155288865-155288913, 155288974, 155288978 |
681 | MNX1 | 7 | 0.58789386401327 | 497 | 1206 | 156490975, 156490997-156491002, 156491006-156491007, 156491010-156491011, 156491016-156491063, 156491075-156491122, 156491135-156491141, 156491210-156491215, 156495215-156495220, 156495277, 156495280, 156495283, 156495296, 156495299, 156495359-156495713, 156495729, 156495733-156495742 |
682 | CLN8 | 8 | 0.99883855981417 | 1 | 861 | 1716108 |
683 | GATA4 | 8 | 0.71858540255831 | 374 | 1329 | 11603244-11603245, 11603282-11603307, 11603402-11603428, 11603443-11603730, 11603752-11603772, 11603809-11603818 |
684 | TUSC3 | 8 | 0.99522445081184 | 5 | 1047 | 15442317, 15442332, 15442336, 15442349, 15442352 |
685 | NEFL | 8 | 0.98774509803922 | 20 | 1632 | 24869325-24869341, 24869348-24869350 |
686 | ANK1 | 8 | 0.9987601842012 | 7 | 5646 | 41667157-41667163 |
687 | HGSNAT | 8 | 0.93815513626834 | 118 | 1908 | 43114797-43114914 |
688 | CHD7 | 8 | 0.9867689570825 | 119 | 8994 | 61817022-61817047, 61817053-61817101, 61817139-61817153, 61817159-61817161, 61817401, 61897137-61897139, 61897185-61897199, 61940411-61940416, 61940835 |
689 | TTPA | 8 | 0.80764635603345 | 161 | 837 | 64160961-64161075, 64161089-64161134 |
690 | CYP7B1 | 8 | 0.97830374753452 | 33 | 1521 | 65873666-65873698 |
691 | EYA1 | 8 | 0.98369870713884 | 29 | 1779 | 72373885-72373889, 72373896, 72373900-72373904, 72373915-72373921, 72374009-72374019 |
692 | CA2 | 8 | 0.96551724137931 | 27 | 783 | 86563563-86563589 |
693 | TMEM67 | 8 | 0.99290060851927 | 21 | 2958 | 94846871-94846879, 94847004-94847007, 94847045-94847050, 94896744-94896745 |
694 | GDF6 | 8 | 0.74853801169591 | 344 | 1368 | 97226271-97226277, 97226320-97226323, 97226329-97226333, 97226336-97226338, 97226344, 97226358-97226376, 97226383-97226547, 97226582-97226623, 97226637-97226643, 97226675-97226712, 97241924-97241943, 97241988-97242001, 97242026, 97242067-97242084 |
695 | VPS13B | 8 | 0.99809429115917 | 23 | 12069 | 100192577-100192578, 100192590-100192591, 100192623-100192624, 100229316, 100583131-100583146 |
696 | DPYS | 8 | 0.91602564102564 | 131 | 1560 | 105548061, 105548103, 105548145-105548243, 105548287-105548296, 105548305-105548324 |
697 | TRPS1 | 8 | 0.9992277992278 | 3 | 3885 | 116668547-116668549 |
698 | EXT1 | 8 | 0.99821508255243 | 4 | 2241 | 118886174-118886177 |
699 | KIAA0196 | 8 | 0.99971264367816 | 1 | 3480 | 126160328 |
700 | KCNQ3 | 8 | 0.95494463535701 | 118 | 2619 | 133561694, 133561763-133561810, 133561819, 133561822, 133561828-133561834, 133561902-133561961 |
701 | TG | 8 | 0.99903695678344 | 8 | 8307 | 133951253, 133952887-133952893 |
702 | CYP11B1 | 8 | 0.98082010582011 | 29 | 1512 | 143953411-143953412, 143954232-143954239, 143955285-143955303 |
703 | CYP11B2 | 8 | 0.94113756613757 | 89 | 1512 | 143990949-143990996, 143991028-143991034, 143991071-143991083, 143991265-143991284, 143991704 |
704 | PLEC | 8 | 0.91860547847741 | 1144 | 14055 | 145062471-145062475, 145062513-145062519, 145062774, 145063901, 145064354, 145064380, 145064384-145064389, 145065039, 145065478, 145065632-145065643, 145065691-145065747, 145065767-145065773, 145065819-145065829, 145065835-145065847, 145065932-145065959, 145065963-145065967, 145066200, 145066203, 145066366, 145067029-145067050, 145067690-145067694, 145068166-145068190, 145068208-145068255, 145068520-145068538, 145069064-145069079, 145069085-145069096, 145069423-145069434, 145069727-145069769, 145069846-145069875, 145069881, 145069884, 145069887, 145070271-145070272, 145070458-145070461, 145070487-145070492, 145070547-145070567, 145070621-145070623, 145070640-145070645, 145070741, 145070747, 145070778-145070801, 145070840-145070979, 145070987-145070992, 145071050-145071078, 145071115-145071121, 145071147-145071184, 145071190-145071239, 145071245-145071284, 145071304-145071329, 145071345-145071388, 145071543-145071550, 145071586-145071612, 145071734, 145071737, 145071748-145071776, 145071993-145072009, 145072022-145072032, 145073717-145073722, 145073905-145073909, 145075283-145075328, 145075339-145075343, 145075362-145075370, 145075375-145075391, 145075393, 145075816-145075818, 145075822, 145078129-145078188, 145078381, 145078793-145078811, 145079107, 145080154-145080184, 145082169-145082170 |
705 | GPT | 8 | 0.89134808853119 | 162 | 1491 | 145701523-145701562, 145701570-145701576, 145702108-145702118, 145702186-145702188, 145702274-145702322, 145702528-145702530, 145702692-145702738, 145702767-145702768 |
706 | RECQL4 | 8 | 0.95423214778053 | 166 | 3627 | 145709561, 145709807, 145710265-145710268, 145713616-145713662, 145713684-145713700, 145713816-145713827, 145713893-145713976 |
707 | DOCK8 | 9 | 0.99179790026247 | 50 | 6096 | 367130, 396997-397013, 442051-442082 |
708 | KCNV2 | 9 | 0.88644688644689 | 186 | 1638 | 2708016-2708022, 2708107-2708114, 2708136-2708163, 2708335-2708353, 2708403-2708419, 2708452-2708482, 2708486, 2708575, 2708625-2708658, 2708758, 2708764, 2708931-2708968 |
709 | GLIS3 | 9 | 0.96312209094164 | 103 | 2793 | 4107850-4107853, 4108005-4108049, 4108058-4108084, 4108101-4108111, 4108315-4108330 |
710 | JAK2 | 9 | 0.9979405707561 | 7 | 3399 | 5067477-5067481, 5067491, 5067517 |
711 | GLDC | 9 | 0.98498204374796 | 46 | 3063 | 6635339-6635344, 6635373-6635383, 6635391-6635398, 6635448-6635468 |
712 | CDKN2A | 9 | 0.9463601532567 | 28 | 522 | 21984274-21984301 |
713 | B4GALT1 | 9 | 0.99916457811195 | 1 | 1197 | 33157111 |
714 | GALT | 9 | 0.99473684210526 | 6 | 1140 | 34636741-34636746 |
715 | NPR2 | 9 | 0.99968193384224 | 1 | 3144 | 35797027 |
716 | GNE | 9 | 0.99911582670203 | 2 | 2262 | 36207437, 36207449 |
717 | FXN | 9 | 0.97946287519747 | 13 | 633 | 70840529-70840531, 70840536, 70840572, 70840635-70840642 |
718 | TRPM6 | 9 | 0.99983522820893 | 1 | 6069 | 76644801 |
719 | VPS13A | 9 | 0.9945406824147 | 52 | 9525 | 78982510, 79086651-79086662, 79098190, 79098202-79098205, 79098217-79098244, 79121018, 79121022-79121025, 79124308 |
720 | ROR2 | 9 | 0.9784604519774 | 61 | 2832 | 93525843-93525846, 93752001-93752046, 93752056-93752066 |
721 | PTCH1 | 9 | 0.97974217311234 | 88 | 4344 | 97308534, 97308545-97308554, 97308565-97308569, 97310281-97310283, 97310292-97310305, 97310410-97310464 |
722 | FOXE1 | 9 | 0.34224598930481 | 738 | 1122 | 99656031-99656114, 99656135-99656169, 99656196-99656205, 99656213-99656411, 99656419-99656429, 99656443-99656471, 99656499-99656816, 99656832-99656878, 99656912-99656915, 99656968 |
723 | TGFBR1 | 9 | 0.93584656084656 | 97 | 1512 | 100907309-100907405 |
724 | ALG2 | 9 | 0.99920063948841 | 1 | 1251 | 101023772 |
725 | FKTN | 9 | 0.98917748917749 | 15 | 1386 | 107422087-107422101 |
726 | DFNB31 | 9 | 0.92254038179148 | 211 | 2724 | 116268471-116268483, 116280689-116280692, 116306635-116306703, 116306738-116306856, 116306897-116306902 |
727 | CDK5RAP2 | 9 | 0.99982400563182 | 1 | 5682 | 122341144 |
728 | GSN | 9 | 0.98722860791826 | 30 | 2349 | 123102012-123102041 |
729 | NR5A1 | 9 | 0.99422799422799 | 8 | 1386 | 126285009, 126295152-126295153, 126305320, 126305399-126305400, 126305411, 126305486 |
730 | LMX1B | 9 | 0.82394995531725 | 197 | 1119 | 128417483-128417533, 128417542-128417649, 128495408-128495409, 128495640-128495644, 128495863-128495888, 128495899-128495903 |
731 | STXBP1 | 9 | 0.97958057395143 | 37 | 1812 | 129414504-129414540 |
732 | GLE1 | 9 | 0.99904625655699 | 2 | 2097 | 130306924, 130306930 |
733 | TOR1A | 9 | 0.97897897897898 | 21 | 999 | 131626036-131626041, 131626047-131626058, 131626096-131626098 |
734 | POMT1 | 9 | 0.99678604224059 | 7 | 2178 | 133384660-133384666 |
735 | SETX | 9 | 0.99589245705751 | 33 | 8034 | 134129693-134129725 |
736 | TSC1 | 9 | 0.99742489270386 | 9 | 3495 | 134761809-134761810, 134761824-134761830 |
737 | CEL | 9 | 0.77234698370762 | 517 | 2271 | 134927260-134927276, 134933988-134934029, 134934315-134934348, 134935833-134935839, 134936211, 134936305, 134936324-134936356, 134936475-134936811, 134936834-134936853, 134936865-134936889 |
738 | SURF1 | 9 | 0.94019933554817 | 54 | 903 | 135213097-135213150 |
739 | ADAMTS13 | 9 | 0.96008403361345 | 171 | 4284 | 135283575-135283702, 135283711-135283712, 135284892-135284899, 135284914, 135284995-135284996, 135297677-135297680, 135311586-135311611 |
740 | DBH | 9 | 0.99730312837109 | 5 | 1854 | 135512059-135512063 |
741 | SARDH | 9 | 0.99891186071817 | 3 | 2757 | 135587421-135587422, 135587493 |
742 | COL5A1 | 9 | 0.98024288562625 | 109 | 5517 | 136673855-136673963 |
743 | LHX3 | 9 | 0.87841191066998 | 147 | 1209 | 138229173-138229175, 138230575-138230576, 138230585-138230627, 138230654-138230679, 138230687-138230726, 138234666-138234698 |
744 | INPP5E | 9 | 0.84082687338501 | 308 | 1935 | 138446144-138446145, 138452962-138452996, 138453009-138453052, 138453064-138453081, 138453149-138453172, 138453307-138453346, 138453435-138453476, 138453509-138453528, 138453588-138453590, 138453596-138453612, 138453630-138453692 |
745 | NOTCH1 | 9 | 0.96844027125717 | 242 | 7668 | 138510731-138510759, 138510782-138510792, 138511155, 138511302-138511303, 138511321-138511333, 138511350-138511380, 138511623-138511637, 138511671-138511676, 138511689-138511730, 138511762-138511769, 138511811-138511831, 138514919-138514927, 138520041-138520042, 138522657-138522658, 138523158, 138560001-138560049 |
746 | AGPAT2 | 9 | 0.82795698924731 | 144 | 837 | 138691267, 138701470-138701484, 138701503-138701630 |
747 | SLC34A3 | 9 | 0.91944444444444 | 145 | 1800 | 139248136-139248198, 139248407-139248415, 139248464, 139248494-139248516, 139250566-139250594, 139250600-139250619 |
748 | EHMT1 | 9 | 0.99921135646688 | 3 | 3804 | 139757644-139757645, 139849123 |
749 | SHOX | X | 0.98521046643914 | 13 | 879 | 525192-525195, 525223-525225, 525236-525238, 525249-525250, 525293 |
750 | KAL1 | X | 0.97993147332354 | 41 | 2043 | 8659994-8660027, 8660050-8660056 |
751 | GPR143 | X | 0.97882352941176 | 27 | 1275 | 9693671-9693697 |
752 | SMS | X | 0.95549500454133 | 49 | 1101 | 21868864-21868912 |
753 | ARX | X | 0.76376554174068 | 399 | 1689 | 24935274-24935275, 24935292-24935298, 24941261-24941331, 24941342-24941370, 24941382-24941388, 24941406-24941413, 24941446-24941452, 24941466-24941733 |
754 | RPGR | X | 0.91211332755132 | 304 | 3459 | 38030283-38030311, 38030328-38030334, 38030346-38030471, 38030479-38030532, 38030558-38030645 |
755 | NYX | X | 0.70055325034578 | 433 | 1446 | 41217779-41217844, 41217862-41218071, 41218105-41218185, 41218204-41218214, 41218300-41218332, 41218409-41218415, 41218460-41218468, 41218474-41218489 |
756 | SYN1 | X | 0.88715769593957 | 239 | 2118 | 47318443-47318449, 47318548-47318732, 47318748-47318793, 47363894 |
757 | CFP | X | 0.99148936170213 | 12 | 1410 | 47373890-47373901 |
758 | WAS | X | 0.96951623591783 | 46 | 1509 | 48432131-48432168, 48432186-48432193 |
759 | FGD1 | X | 0.9982674982675 | 5 | 2886 | 54538506-54538510 |
760 | AR | X | 0.94353963083605 | 156 | 2763 | 66681870-66681988, 66683078-66683114 |
761 | MED12 | X | 0.99219467401286 | 51 | 6534 | 70255370-70255420 |
762 | TAF1 | X | 0.97852868708201 | 122 | 5682 | 70502890-70502998, 70503044-70503056 |
763 | SLC16A2 | X | 0.93322475570033 | 123 | 1842 | 73558063-73558069, 73558093-73558173, 73558244-73558272, 73558459-73558464 |
764 | BRWD3 | X | 0.9948234424108 | 28 | 5409 | 79951599-79951626 |
765 | ZNF711 | X | 0.99912510936133 | 2 | 2286 | 84409956-84409957 |
766 | PCDH19 | X | 0.99425287356322 | 19 | 3306 | 99550021, 99550220-99550237 |
767 | HPRT1 | X | 0.95890410958904 | 27 | 657 | 133422008-133422034 |
768 | SLC9A6 | X | 0.97768281101614 | 47 | 2106 | 134895389-134895392, 134895474-134895516 |
769 | ZIC3 | X | 0.95797720797721 | 59 | 1404 | 136476653, 136478753-136478762, 136478774-136478821 |
770 | SOX3 | X | 0.61894108873975 | 511 | 1341 | 139413559-139413664, 139413670-139413738, 139413787-139413793, 139413811-139413837, 139413847-139413872, 139413890-139414143, 139414177-139414183, 139414315-139414318, 139414754-139414764 |
771 | AFF2 | X | 0.99822154471545 | 7 | 3936 | 147390315-147390321 |
772 | SLC6A8 | X | 0.85744234800839 | 272 | 1908 | 152607224-152607485, 152612664-152612666, 152613782-152613788 |
773 | ABCD1 | X | 0.98659517426273 | 30 | 2238 | 152662273-152662302 |
774 | ABCD1 | X | 0.90291262135922 | 30 | 309 | 152662273-152662302 |
775 | MECP2 | X | 0.95858383433534 | 62 | 1497 | 153016255-153016316 |
776 | OPN1LW | X | 0.90684931506849 | 102 | 1095 | 153063004-153063009, 153069505-153069543, 153071646-153071666, 153071715-153071738, 153073306, 153075103-153075113 |
777 | OPN1MW | X | 0.89954337899543 | 110 | 1095 | 153101385-153101432, 153106531-153106537, 153106684-153106690, 153108844-153108868, 153110436, 153112191-153112205, 153112237-153112243 |
778 | OPN1MW | X | 0.91872146118721 | 89 | 1095 | 153138503-153138550, 153143649-153143655, 153143802-153143808, 153145962-153145980, 153147554, 153149355-153149361 |
779 | FLNA | X | 0.99697885196375 | 24 | 7944 | 153252747-153252763, 153252801-153252807 |
780 | G6PD | X | 0.9969474969475 | 5 | 1638 | 153413431-153413435 |