COSMIC DB ► RESULTS
Total COSMIC: 3,676,459; Unique: 2,881,415; Used: 2,810,505
Pos (GRCh38) | COSMIC ID | Gene | Transcript | Prot | CDS | Cys-Rich | Dist2Cys | TM Helix | Dist2tm | TM Xtra | Dist2xtra | Count |
---|---|---|---|---|---|---|---|---|---|---|---|---|
10:43114494-43114506 | COSM1048 | RET | ENST00000355710 | p.E632_T636>SS | c.1894_1906>AGCT | No | 99999 | No | 600 | Yes | 0 | 14 |
7:55181328-55181329 | COSM12381 | EGFR | ENST00000275493 | p.H773_V774insNPH | c.2319_2320insAACCCCCAC | No | 99999 | Yes | 0 | No | 23 | 11 |
17:39724743-39724744 | COSM12558 | ERBB2 | ENST00000269571 | p.A775_G776insYVMA | c.2325_2326ins12 | No | 99999 | Yes | 0 | No | 20 | 10 |
4:54728092-54728092 | COSM12706 | KIT | ENST00000288135 | p.V654A | c.1961T>C | No | 99999 | Yes | 0 | No | 22 | 24 |
4:54733102-54733102 | COSM1307 | KIT | ENST00000288135 | p.I798I | c.2394C>T | No | 99999 | No | 123 | Yes | 0 | 19 |
4:54733154-54733154 | COSM1310 | KIT | ENST00000288135 | p.D816Y | c.2446G>T | No | 99999 | No | 141 | Yes | 0 | 54 |
4:54733154-54733154 | COSM1311 | KIT | ENST00000288135 | p.D816H | c.2446G>C | No | 99999 | No | 141 | Yes | 0 | 45 |
4:54733155-54733155 | COSM1314 | KIT | ENST00000288135 | p.D816V | c.2447A>T | No | 99999 | No | 141 | Yes | 0 | 838 |
7:129210500-129210500 | COSM13146 | SMO | ENST00000249373 | p.W535L | c.1604G>T | No | 99999 | Yes | 0 | No | 3 | 14 |
4:54733174-54733174 | COSM1321 | KIT | ENST00000288135 | p.N822K | c.2466T>A | No | 99999 | No | 147 | Yes | 0 | 18 |
4:54733174-54733174 | COSM1322 | KIT | ENST00000288135 | p.N822K | c.2466T>G | No | 99999 | No | 147 | Yes | 0 | 20 |
4:54733182-54733182 | COSM1323 | KIT | ENST00000288135 | p.V825A | c.2474T>C | No | 99999 | No | 150 | Yes | 0 | 29 |
4:54736599-54736599 | COSM1325 | KIT | ENST00000288135 | p.L862L | c.2586G>C | No | 99999 | No | 187 | Yes | 0 | 14 |
4:54726019-54726020 | COSM1326 | KIT | ENST00000288135 | p.Y503_F504insAY | c.1509_1510insGCCTAT | No | 99999 | No | 18 | Yes | 0 | 143 |
7:55191746-55191746 | COSM13424 | EGFR | ENST00000275493 | p.L833V | c.2497T>G | No | 99999 | No | 38 | Yes | 0 | 21 |
17:39725079-39725079 | COSM14065 | ERBB2 | ENST00000269571 | p.V842I | c.2524G>A | No | 99999 | No | 48 | Yes | 0 | 19 |
4:1804365-1804365 | COSM17461 | FGFR3 | ENST00000440486 | p.S371C | c.1111A>T | No | 99999 | No | 2 | Yes | 0 | 60 |
7:55191831-55191831 | COSM6213 | EGFR | ENST00000275493 | p.L861Q | c.2582T>A | No | 99999 | No | 66 | Yes | 0 | 84 |
7:55191822-55191822 | COSM6224 | EGFR | ENST00000275493 | p.L858R | c.2573T>G | No | 99999 | No | 63 | Yes | 0 | 2289 |
7:55191753-55191753 | COSM6227 | EGFR | ENST00000275493 | p.H835L | c.2504A>T | No | 99999 | No | 40 | Yes | 0 | 11 |
7:55181378-55181378 | COSM6240 | EGFR | ENST00000275493 | p.T790M | c.2369C>T | No | 99999 | Yes | 0 | No | 6 | 291 |
4:1801837-1801837 | COSM714 | FGFR3 | ENST00000440486 | p.R248C | c.742C>T | No | 99999 | No | 125 | Yes | 0 | 254 |
4:1801841-1801841 | COSM715 | FGFR3 | ENST00000440486 | p.S249C | c.746C>G | No | 99999 | No | 124 | Yes | 0 | 1311 |
4:1804362-1804362 | COSM716 | FGFR3 | ENST00000440486 | p.G370C | c.1108G>T | No | 99999 | No | 3 | Yes | 0 | 117 |
4:1804372-1804372 | COSM718 | FGFR3 | ENST00000440486 | p.Y373C | c.1118A>G | No | 99999 | Yes | 0 | No | 1 | 434 |
4:1806162-1806162 | COSM719 | FGFR3 | ENST00000440486 | p.K650E | c.1948A>G | No | 99999 | No | 91 | Yes | 0 | 51 |
4:1806163-1806163 | COSM720 | FGFR3 | ENST00000440486 | p.K650M | c.1949A>T | No | 99999 | No | 91 | Yes | 0 | 38 |
4:1804426-1804426 | COSM721 | FGFR3 | ENST00000440486 | p.A391E | c.1172C>A | No | 99999 | Yes | 0 | No | 19 | 34 |
4:54285926-54285926 | COSM736 | PDGFRA | ENST00000257290 | p.D842V | c.2525A>T | No | 99999 | No | 227 | Yes | 0 | 188 |
4:54285925-54285936 | COSM737 | PDGFRA | ENST00000257290 | p.I843_D846delIMHD | c.2524_2535del12 | No | 99999 | No | 228 | Yes | 0 | 13 |
13:28018505-28018505 | COSM783 | FLT3 | ENST00000241453 | p.D835Y | c.2503G>T | No | 99999 | No | 139 | Yes | 0 | 213 |
13:28018504-28018504 | COSM784 | FLT3 | ENST00000241453 | p.D835V | c.2504A>T | No | 99999 | No | 139 | Yes | 0 | 50 |
13:28018505-28018505 | COSM785 | FLT3 | ENST00000241453 | p.D835H | c.2503G>C | No | 99999 | No | 139 | Yes | 0 | 32 |
13:28018503-28018503 | COSM788 | FLT3 | ENST00000241453 | p.D835E | c.2505T>G | No | 99999 | No | 139 | Yes | 0 | 10 |
13:28018500-28018502 | COSM797 | FLT3 | ENST00000241453 | p.I836delI | c.2506_2508delATC | No | 99999 | No | 140 | Yes | 0 | 13 |
13:28018503-28018505 | COSM854 | FLT3 | ENST00000241453 | p.D835delD | c.2503_2505delGAT | No | 99999 | No | 139 | Yes | 0 | 23 |
10:43121968-43121968 | COSM965 | RET | ENST00000355710 | p.M918T | c.2753T>C | No | 99999 | No | 886 | Yes | 0 | 296 |
10:43114500-43114500 | COSM966 | RET | ENST00000355710 | p.C634R | c.1900T>C | No | 99999 | No | 602 | Yes | 0 | 13 |
16:68738315-68738315 | COSM19503 | CDH1 | ENST00000261769 | p.Q23* | c.67C>T | No | 99999 | No | 686 | Yes | 0 | 11 |
13:28034322-28034322 | COSM19740 | FLT3 | ENST00000241453 | p.L561L | c.1683A>G | No | 99999 | Yes | 0 | No | 20 | 10 |
12:56085070-56085070 | COSM20710 | ERBB3 | ENST00000267101 | p.V104M | c.310G>A | No | 99999 | No | 540 | Yes | 0 | 19 |
17:39724742-39724743 | COSM20959 | ERBB2 | ENST00000269571 | p.A775_G776insYVMA | c.2324_2325ins12 | No | 99999 | Yes | 0 | No | 20 | 55 |
7:55143387-55143387 | COSM21683 | EGFR | ENST00000275493 | p.R108K | c.323G>A | No | 99999 | No | 538 | Yes | 0 | 16 |
7:55154128-55154128 | COSM21686 | EGFR | ENST00000275493 | p.A289T | c.865G>A | No | 99999 | No | 357 | Yes | 0 | 10 |
7:55154129-55154129 | COSM21687 | EGFR | ENST00000275493 | p.A289V | c.866C>T | No | 99999 | No | 357 | Yes | 0 | 35 |
7:55165350-55165350 | COSM21690 | EGFR | ENST00000275493 | p.G598V | c.1793G>T | No | 99999 | No | 48 | Yes | 0 | 36 |
4:54285873-54285873 | COSM22413 | PDGFRA | ENST00000257290 | p.V824V | c.2472C>T | No | 99999 | No | 209 | Yes | 0 | 37 |
4:54277981-54277981 | COSM22414 | PDGFRA | ENST00000257290 | p.N659K | c.1977C>G | No | 99999 | No | 44 | Yes | 0 | 10 |
7:55191792-55191792 | COSM22943 | EGFR | ENST00000275493 | p.P848L | c.2543C>T | No | 99999 | No | 53 | Yes | 0 | 12 |
7:113878248-113878248 | COSM23141 | PPP1R3A | NM_002711.2 | p.T948T | c.2844G>A | No | 99999 | No | 140 | Yes | 0 | 11 |
4:1806604-1806604 | COSM24802 | FGFR3 | ENST00000440486 | p.G697C | c.2089G>T | No | 99999 | No | 138 | Yes | 0 | 44 |
4:1804392-1804392 | COSM24842 | FGFR3 | ENST00000440486 | p.G380R | c.1138G>A | No | 99999 | Yes | 0 | No | 8 | 14 |
14:81143953-81143953 | COSM26418 | TSHR | ENST00000541158 | p.T632I | c.1895C>T | No | 99999 | Yes | 0 | No | 18 | 24 |
14:81143955-81143955 | COSM26419 | TSHR | ENST00000541158 | p.D633Y | c.1897G>T | No | 99999 | Yes | 0 | No | 17 | 12 |
14:81143946-81143946 | COSM26423 | TSHR | ENST00000541158 | p.I630L | c.1888A>C | No | 99999 | Yes | 0 | No | 20 | 11 |
1:43349308-43349308 | COSM27286 | MPL | ENST00000372470 | p.S505N | c.1514G>A | No | 99999 | Yes | 0 | No | 15 | 13 |
4:54723607-54723609 | COSM29014 | KIT | ENST00000288135 | p.D419del | c.1255_1257delGAC | No | 99999 | No | 102 | Yes | 0 | 21 |
1:119915524-119915524 | COSM36210 | NOTCH2 | ENST00000256646 | p.R2400* | c.7198C>T | No | 99999 | No | 700 | Yes | 0 | 32 |
10:121520163-121520163 | COSM36903 | FGFR2 | ENST00000358487 | p.S252W | c.755C>G | No | 99999 | No | 123 | Yes | 0 | 48 |
10:121515280-121515280 | COSM36904 | FGFR2 | ENST00000358487 | p.Y375C | c.1124A>G | No | 99999 | Yes | 0 | No | 1 | 10 |
10:121515260-121515260 | COSM36906 | FGFR2 | ENST00000358487 | p.C382R | c.1144T>C | No | 99999 | Yes | 0 | No | 8 | 12 |
11:320606-320606 | COSM42691 | IFITM3 | ENST00000399808 | p.P70T | c.208C>A | No | 99999 | Yes | 0 | No | 13 | 26 |
11:320649-320649 | COSM42692 | IFITM3 | ENST00000399808 | p.P55P | c.165C>T | No | 99999 | No | 3 | Yes | 0 | 45 |
20:4699605-4699605 | COSM42856 | PRNP | ENST00000379440 | p.M129V | c.385A>G | No | 99999 | Yes | 0 | No | 18 | 18 |
7:55146655-55146655 | COSM42978 | EGFR | ENST00000275493 | p.N158N | c.474C>T | No | 99999 | No | 488 | Yes | 0 | 24 |
17:39711955-39711955 | COSM48358 | ERBB2 | ENST00000269571 | p.S310F | c.929C>T | No | 99999 | No | 343 | Yes | 0 | 32 |
7:101033998-101033998 | COSM51608 | MUC17 | ENST00000306151 | p.S861T | c.2582G>C | No | 99999 | No | 3531 | Yes | 0 | 10 |
4:152326137-152326137 | COSM74637 | FBXW7_NM_018315_2 | ENST00000263981 | p.R425C | c.1273C>T | No | 99999 | No | 396 | Yes | 0 | 45 |
17:21416370-21416370 | COSM77932 | KCNJ12 | ENST00000331718 | p.S343L | c.1028C>T | No | 99999 | No | 166 | Yes | 0 | 28 |
18:53305647-53305647 | COSM78925 | DCC | ENST00000442544 | p.R661* | c.1981C>T | No | 99999 | No | 438 | Yes | 0 | 10 |
11:64690446-64690447 | COSM87917 | NRXN2 | ENST00000377551 | p.A270fs*27 | c.808_809insG | No | 99999 | No | 1366 | Yes | 0 | 11 |
4:152326214-152326214 | COSM94297 | FBXW7_NM_018315_2 | ENST00000263981 | p.R399Q | c.1196G>A | No | 99999 | No | 370 | Yes | 0 | 29 |
6:29943463-29943463 | COSM98206 | HLA-A | ENST00000396634 | p.L180* | c.539T>A | No | 99999 | No | 128 | Yes | 0 | 16 |
4:152326137-152326137 | COSM99603 | FBXW7_NM_018315_2 | ENST00000263981 | p.R425G | c.1273C>G | No | 99999 | No | 396 | Yes | 0 | 15 |
2:113742700-113742700 | COSM111375 | SLC35F5 | ENST00000245680 | p.C248fs*22 | c.742delT | No | 99999 | Yes | 0 | No | 15 | 33 |
6:107893570-107893570 | COSM111392 | SEC63 | ENST00000369002 | p.K529fs*4 | c.1586delA | No | 99999 | No | 316 | Yes | 0 | 12 |
10:76970028-76970028 | COSM111466 | KCNMA1 | ENST00000286627 | p.K711fs*17 | c.2132delA | No | 99999 | No | 326 | Yes | 0 | 13 |
3:160438580-160438580 | COSM111521 | TRIM59 | ENST00000309784 | p.S202fs*3 | c.604delA | No | 99999 | No | 127 | Yes | 0 | 18 |
11:5778422-5778422 | COSM111577 | OR52N5 | ENST00000317093 | p.F71fs*59 | c.213delT | No | 99999 | Yes | 0 | No | 21 | 14 |
6:107893551-107893551 | COSM111632 | SEC63 | ENST00000369002 | p.K535fs*28 | c.1605delA | No | 99999 | No | 322 | Yes | 0 | 31 |
14:20198016-20198017 | COSM112052 | OR11G2 | ENST00000357366 | p.G230fs*74 | c.681_682insA | No | 99999 | No | 12 | Yes | 0 | 16 |
2:119437075-119437076 | COSM112142 | TMEM37 | ENST00000306406 | p.T70>SVP | c.208_209insGTGTGC | No | 99999 | No | 14 | Yes | 0 | 38 |
4:152328232-152328232 | COSM117308 | FBXW7_NM_018315_2 | ENST00000263981 | p.R385H | c.1154G>A | No | 99999 | No | 356 | Yes | 0 | 41 |
1:248574294-248574294 | COSM120080 | OR2T34 | ENST00000328782 | p.V155A | c.464T>C | No | 99999 | Yes | 0 | No | 13 | 19 |
11:88604809-88604809 | COSM123492 | GRM5 | ENST00000305432 | p.R435W | c.1303C>T | No | 99999 | No | 147 | Yes | 0 | 11 |
4:152330755-152330755 | COSM126700 | FBXW7_NM_018315_2 | ENST00000263981 | p.R287* | c.859C>T | No | 99999 | No | 258 | Yes | 0 | 18 |
14:20060290-20060308 | COSM128642 | OR4L1 | ENST00000315683 | p.I83fs*10 | c.246_264del19 | No | 99999 | No | 5 | Yes | 0 | 12 |
3:195779037-195779084 | COSM128729 | MUC4_ENST00000463781 | ENST00000463781 | p.A4166_S4181del16 | c.12496_12543del48 | No | 99999 | No | 1206 | Yes | 0 | 23 |
4:4226547-4226555 | COSM128733 | OTOP1 | ENST00000296358 | p.L104_W106delLLW | c.310_318delCTGCTGTGG | No | 99999 | Yes | 0 | No | 13 | 31 |
20:1915406-1915408 | COSM128735 | SIRPA | ENST00000356025 | p.D131delD | c.387_389delCGA | No | 99999 | No | 241 | Yes | 0 | 17 |
1:215786811-215786811 | COSM130095 | USH2A | ENST00000307340 | p.C3416G | c.10246T>G | No | 99999 | No | 1625 | Yes | 0 | 21 |
2:128318223-128318223 | COSM131258 | HS6ST1 | ENST00000259241 | p.V114G | c.341T>G | No | 99999 | No | 77 | Yes | 0 | 19 |
2:147918575-147918575 | COSM132653 | ACVR2A | ENST00000241416 | p.K315N | c.945A>C | No | 99999 | No | 154 | Yes | 0 | 24 |
1:120069350-120069350 | COSM132738 | NOTCH2 | ENST00000256646 | p.C19W | c.57C>G | No | 99999 | No | 1630 | Yes | 0 | 20 |
7:100996039-100996039 | COSM132812 | MUC12 | ENST00000536621 | p.H1826Y | c.5476C>T | No | 99999 | No | 3412 | Yes | 0 | 15 |
1:120069389-120069390 | COSM132830 | NOTCH2 | ENST00000256646 | p.P6fs*27 | c.17_18delCC | No | 99999 | No | 1643 | Yes | 0 | 14 |
5:35874473-35874473 | COSM132904 | IL7R | ENST00000303115 | p.T244I | c.731C>T | No | 99999 | Yes | 0 | No | 4 | 13 |
5:141331561-141331561 | COSM139618 | PCDHGA1 | ENST00000378105 | p.R293C | c.877C>T | No | 99999 | No | 398 | Yes | 0 | 12 |
5:141331561-141331561 | COSM139619 | PCDHGA1_ENST00000517417 | ENST00000517417 | p.R293C | c.877C>T | No | 99999 | No | 398 | Yes | 0 | 12 |
3:195779432-195779432 | COSM145651 | MUC4_ENST00000463781 | ENST00000463781 | p.P4050T | c.12148C>A | No | 99999 | No | 1322 | Yes | 0 | 12 |
1:206933133-206933133 | COSM146748 | PIGR | ENST00000356495 | p.A580V | c.1739C>T | No | 99999 | No | 59 | Yes | 0 | 10 |
1:248573929-248573929 | COSM146856 | OR2T34 | ENST00000328782 | p.M277V | c.829A>G | No | 99999 | No | 2 | Yes | 0 | 11 |
10:99844450-99844450 | COSM147024 | ABCC2 | ENST00000370449 | p.I1324I | c.3972C>T | No | 99999 | No | 96 | Yes | 0 | 18 |
11:6768698-6768698 | COSM147130 | OR2AG2 | ENST00000338569 | p.R87L | c.260G>T | No | 99999 | No | 4 | Yes | 0 | 11 |
11:48324989-48324989 | COSM147192 | OR4C3 | ENST00000319856 | p.T17S | c.49A>T | No | 99999 | Yes | 0 | No | 9 | 21 |
11:48325590-48325590 | COSM147193 | OR4C3 | ENST00000319856 | p.T217M | c.650C>T | No | 99999 | No | 6 | Yes | 0 | 25 |
11:48325592-48325592 | COSM147194 | OR4C3 | ENST00000319856 | p.Y218H | c.652T>C | No | 99999 | No | 5 | Yes | 0 | 25 |
11:56105181-56105181 | COSM147219 | OR8H2 | ENST00000313503 | p.I47L | c.139A>C | No | 99999 | Yes | 0 | No | 4 | 12 |
11:58215360-58215360 | COSM147242 | OR1S1 | ENST00000309433 | p.L206M | c.616T>A | No | 99999 | No | 5 | Yes | 0 | 20 |
11:124038920-124038920 | COSM147366 | OR10G7 | ENST00000330487 | p.I28V | c.82A>G | No | 99999 | Yes | 0 | No | 4 | 15 |
14:70457849-70457849 | COSM147807 | ADAM21_ENST00000267499 | ENST00000267499 | p.A117G | c.350C>G | No | 99999 | No | 88 | Yes | 0 | 15 |
14:70457980-70457980 | COSM147811 | ADAM21_ENST00000267499 | ENST00000267499 | p.I161V | c.481A>G | No | 99999 | No | 132 | Yes | 0 | 13 |
14:70458238-70458238 | COSM147812 | ADAM21_ENST00000267499 | ENST00000267499 | p.K247Q | c.739A>C | No | 99999 | No | 218 | Yes | 0 | 10 |
15:22081339-22081339 | COSM147863 | OR4M2 | ENST00000332663 | p.M239V | c.715A>G | No | 99999 | Yes | 0 | No | 22 | 15 |
15:88032954-88032954 | COSM147967 | NTRK3_ENST00000360948 | ENST00000360948 | p.A496A | c.1488C>G | No | 99999 | No | 44 | Yes | 0 | 15 |
16:30506720-30506720 | COSM148068 | ITGAL | ENST00000356798 | p.R791T | c.2372G>C | No | 99999 | No | 299 | Yes | 0 | 18 |
17:32045720-32045720 | COSM148228 | LRRC37B | ENST00000341671 | p.A715V | c.2144C>T | No | 99999 | No | 192 | Yes | 0 | 15 |
17:63930138-63930138 | COSM148316 | CD79B | ENST00000006750 | p.C122C | c.366T>C | No | 99999 | No | 39 | Yes | 0 | 21 |
17:74588625-74588625 | COSM148338 | CD300LD | ENST00000375352 | p.V89M | c.265G>A | No | 99999 | No | 77 | Yes | 0 | 11 |
19:7166365-7166365 | COSM148469 | INSR | ENST00000302850 | p.A550A | c.1650G>A | No | 99999 | No | 407 | Yes | 0 | 12 |
19:8953002-8953002 | COSM148484 | MUC16_ENST00000397910 | ENST00000397910 | p.D7923A | c.23768A>C | No | 99999 | No | 6530 | Yes | 0 | 11 |
19:8962066-8962066 | COSM148490 | MUC16_ENST00000397910 | ENST00000397910 | p.I4902V | c.14704A>G | No | 99999 | No | 9551 | Yes | 0 | 11 |
19:40881751-40881751 | COSM148635 | CYP2A7 | ENST00000301146 | p.F61I | c.181T>A | No | 99999 | No | 37 | Yes | 0 | 21 |
3:128625943-128625943 | COSM149463 | RPN1 | ENST00000296255 | p.D402D | c.1206C>T | No | 99999 | No | 38 | Yes | 0 | 14 |
3:195779074-195779074 | COSM149553 | MUC4_ENST00000463781 | ENST00000463781 | p.V4169A | c.12506T>C | No | 99999 | No | 1203 | Yes | 0 | 18 |
3:195779084-195779084 | COSM149554 | MUC4_ENST00000463781 | ENST00000463781 | p.A4166T | c.12496G>A | No | 99999 | No | 1206 | Yes | 0 | 19 |
3:195779711-195779711 | COSM149559 | MUC4_ENST00000463781 | ENST00000463781 | p.D3957N | c.11869G>A | No | 99999 | No | 1415 | Yes | 0 | 12 |
3:195779726-195779726 | COSM149562 | MUC4_ENST00000463781 | ENST00000463781 | p.P3952S | c.11854C>T | No | 99999 | No | 1420 | Yes | 0 | 23 |
3:195780514-195780514 | COSM149565 | MUC4_ENST00000463781 | ENST00000463781 | p.A3689V | c.11066C>T | No | 99999 | No | 1683 | Yes | 0 | 19 |
3:195781378-195781378 | COSM149567 | MUC4_ENST00000463781 | ENST00000463781 | p.V3401A | c.10202T>C | No | 99999 | No | 1971 | Yes | 0 | 18 |
3:195781629-195781629 | COSM149569 | MUC4_ENST00000463781 | ENST00000463781 | p.D3317E | c.9951C>G | No | 99999 | No | 2055 | Yes | 0 | 23 |
3:195781631-195781631 | COSM149570 | MUC4_ENST00000463781 | ENST00000463781 | p.D3317N | c.9949G>A | No | 99999 | No | 2055 | Yes | 0 | 11 |
3:195781666-195781666 | COSM149576 | MUC4_ENST00000463781 | ENST00000463781 | p.V3305A | c.9914T>C | No | 99999 | No | 2067 | Yes | 0 | 21 |
3:195782805-195782805 | COSM149581 | MUC4_ENST00000463781 | ENST00000463781 | p.Q2925H | c.8775G>C | No | 99999 | No | 2447 | Yes | 0 | 19 |
3:195782818-195782818 | COSM149583 | MUC4_ENST00000463781 | ENST00000463781 | p.A2921V | c.8762C>T | No | 99999 | No | 2451 | Yes | 0 | 18 |
3:195783103-195783103 | COSM149586 | MUC4_ENST00000463781 | ENST00000463781 | p.F2826S | c.8477T>C | No | 99999 | No | 2546 | Yes | 0 | 24 |
3:195783836-195783836 | COSM149588 | MUC4_ENST00000463781 | ENST00000463781 | p.T2582P | c.7744A>C | No | 99999 | No | 2790 | Yes | 0 | 26 |
3:195784519-195784519 | COSM149596 | MUC4_ENST00000463781 | ENST00000463781 | p.H2354P | c.7061A>C | No | 99999 | No | 3018 | Yes | 0 | 13 |
3:195784655-195784655 | COSM149598 | MUC4_ENST00000463781 | ENST00000463781 | p.D2309N | c.6925G>A | No | 99999 | No | 3063 | Yes | 0 | 30 |
3:195784685-195784685 | COSM149600 | MUC4_ENST00000463781 | ENST00000463781 | p.T2299S | c.6895A>T | No | 99999 | No | 3073 | Yes | 0 | 18 |
3:195785341-195785341 | COSM149602 | MUC4_ENST00000463781 | ENST00000463781 | p.P2080H | c.6239C>A | No | 99999 | No | 3292 | Yes | 0 | 18 |
3:195786526-195786526 | COSM149608 | MUC4_ENST00000463781 | ENST00000463781 | p.G1685D | c.5054G>A | No | 99999 | No | 3687 | Yes | 0 | 10 |
3:195786562-195786562 | COSM149610 | MUC4_ENST00000463781 | ENST00000463781 | p.A1673V | c.5018C>T | No | 99999 | No | 3699 | Yes | 0 | 18 |
3:195788077-195788077 | COSM149614 | MUC4_ENST00000463781 | ENST00000463781 | p.P1168L | c.3503C>T | No | 99999 | No | 4204 | Yes | 0 | 18 |
3:195788146-195788146 | COSM149616 | MUC4_ENST00000463781 | ENST00000463781 | p.V1145A | c.3434T>C | No | 99999 | No | 4227 | Yes | 0 | 18 |
3:195788543-195788543 | COSM149618 | MUC4_ENST00000463781 | ENST00000463781 | p.S1013G | c.3037A>G | No | 99999 | No | 4359 | Yes | 0 | 26 |
4:55106807-55106807 | COSM149673 | KDR | ENST00000263923 | p.Q472H | c.1416A>T | No | 99999 | No | 262 | Yes | 0 | 21 |
4:186082920-186082920 | COSM149771 | TLR3 | ENST00000296795 | p.L412F | c.1234C>T | No | 99999 | No | 291 | Yes | 0 | 11 |
5:35860966-35860966 | COSM149813 | IL7R | ENST00000303115 | p.I66T | c.197T>C | No | 99999 | No | 175 | Yes | 0 | 21 |
5:35871088-35871088 | COSM149814 | IL7R | ENST00000303115 | p.V138I | c.412G>A | No | 99999 | No | 103 | Yes | 0 | 23 |
5:74689390-74689390 | COSM149850 | HEXB | ENST00000261416 | p.K121R | c.362A>G | No | 99999 | No | 86 | Yes | 0 | 10 |
5:140841554-140841554 | COSM149927 | PCDHA8 | ENST00000378123 | p.S78N | c.233G>A | No | 99999 | No | 618 | Yes | 0 | 10 |
5:140841554-140841554 | COSM149928 | PCDHA8_ENST00000531613 | ENST00000531613 | p.S78N | c.233G>A | No | 99999 | No | 618 | Yes | 0 | 10 |
5:150078115-150078115 | COSM149992 | CSF1R_ENST00000286301 | ENST00000286301 | p.T242T | c.726C>T | No | 99999 | No | 273 | Yes | 0 | 22 |
6:52082439-52082439 | COSM150105 | PKHD1 | ENST00000371117 | p.D78D | c.234C>T | No | 99999 | No | 3781 | Yes | 0 | 13 |
7:67195255-67195255 | COSM150308 | TYW1 | ENST00000359626 | p.H632R | c.1895A>G | No | 99999 | No | 590 | Yes | 0 | 13 |
7:100991683-100991683 | COSM150346 | MUC12 | ENST00000536621 | p.P374T | c.1120C>A | No | 99999 | No | 4864 | Yes | 0 | 20 |
7:100995575-100995575 | COSM150347 | MUC12 | ENST00000536621 | p.H1671R | c.5012A>G | No | 99999 | No | 3567 | Yes | 0 | 20 |
7:101004365-101004365 | COSM150350 | MUC12 | ENST00000536621 | p.E4601G | c.13802A>G | No | 99999 | No | 637 | Yes | 0 | 18 |
7:101004371-101004371 | COSM150351 | MUC12 | ENST00000536621 | p.T4603M | c.13808C>T | No | 99999 | No | 635 | Yes | 0 | 19 |
7:101004538-101004538 | COSM150352 | MUC12 | ENST00000536621 | p.H4659Y | c.13975C>T | No | 99999 | No | 579 | Yes | 0 | 18 |
7:102639174-102639174 | COSM150363 | UPK3BL | ENST00000340457 | p.E171K | c.511G>A | No | 99999 | No | 32 | Yes | 0 | 13 |
7:138917671-138917671 | COSM150398 | KIAA1549_ENST00000422774 | ENST00000422774 | p.P652L | c.1955C>T | No | 99999 | No | 345 | Yes | 0 | 12 |
7:138917777-138917777 | COSM150399 | KIAA1549_ENST00000422774 | ENST00000422774 | p.R617G | c.1849A>G | No | 99999 | No | 380 | Yes | 0 | 15 |
8:96602433-96602433 | COSM150509 | SDC2 | ENST00000302190 | p.S71T | c.211T>A | No | 99999 | No | 76 | Yes | 0 | 14 |
9:33385854-33385854 | COSM150590 | AQP7 | ENST00000297988 | p.G180R | c.538G>A | No | 99999 | Yes | 0 | No | 13 | 22 |
9:104858586-104858586 | COSM150660 | ABCA1 | ENST00000374736 | p.R219K | c.656G>A | No | 99999 | No | 172 | Yes | 0 | 16 |
3:195781571-195781666 | COSM150885 | MUC4_ENST00000463781 | ENST00000463781 | p.V3305_S3336del32 | c.9914_10009del96 | No | 99999 | No | 2067 | Yes | 0 | 24 |
3:195781619-195781666 | COSM150886 | MUC4_ENST00000463781 | ENST00000463781 | p.V3305_S3320del16 | c.9914_9961del48 | No | 99999 | No | 2067 | Yes | 0 | 11 |
3:195786929-195786976 | COSM150892 | MUC4_ENST00000463781 | ENST00000463781 | p.M1535_T1550del16 | c.4604_4651del48 | No | 99999 | No | 3837 | Yes | 0 | 13 |
3:195788496-195788543 | COSM150894 | MUC4_ENST00000463781 | ENST00000463781 | p.S1013_T1028del16 | c.3037_3084del48 | No | 99999 | No | 4359 | Yes | 0 | 31 |
13:19438112-19438112 | COSM158634 | TPTE2 | ENST00000390680 | p.E262K | c.784G>A | No | 99999 | No | 146 | Yes | 0 | 10 |
12:56088557-56088557 | COSM160822 | ERBB3_ENST00000267101 | ENST00000267101 | p.D297Y | c.889G>T | No | 99999 | No | 347 | Yes | 0 | 11 |
1:207468699-207468699 | COSM166014 | CR2 | ENST00000367057 | p.T209fs*10 | c.618delC | No | 99999 | No | 826 | Yes | 0 | 17 |
12:108623904-108623904 | COSM166789 | SELPLG_ENST00000550948 | ENST00000550948 | p.Q135P | c.404A>C | No | 99999 | No | 186 | Yes | 0 | 10 |
4:152323033-152323033 | COSM167197 | FBXW7_NM_018315_2 | ENST00000263981 | p.R578* | c.1732C>T | No | 99999 | No | 549 | Yes | 0 | 11 |
4:152328233-152328233 | COSM170725 | FBXW7_NM_018315_2 | ENST00000263981 | p.R385C | c.1153C>T | No | 99999 | No | 356 | Yes | 0 | 59 |
12:56085070-56085070 | COSM172423 | ERBB3_ENST00000267101 | ENST00000267101 | p.V104M | c.310G>A | No | 99999 | No | 540 | Yes | 0 | 23 |
16:20324229-20324229 | COSM182687 | GP2 | ENST00000381362 | p.S41L | c.122C>T | No | 99999 | No | 473 | Yes | 0 | 10 |
12:55365702-55365702 | COSM191648 | OR6C75 | ENST00000343399 | p.L200fs*1 | c.592delT | No | 99999 | Yes | 0 | No | 8 | 11 |
4:152322940-152322940 | COSM206681 | FBXW7_NM_018315_2 | ENST00000263981 | p.R609W | c.1825C>T | No | 99999 | No | 580 | Yes | 0 | 12 |
12:22659061-22659061 | COSM210967 | ETNK1 | ENST00000266517 | p.N244S | c.731A>G | No | 99999 | No | 156 | Yes | 0 | 15 |
7:129206557-129206557 | COSM216037 | SMO | ENST00000249373 | p.L412F | c.1234C>T | No | 99999 | Yes | 0 | No | 13 | 24 |
9:42129032-42129032 | COSM216143 | CNTNAP3B | ENST00000377564 | p.S21R | c.63C>A | No | 99999 | No | 1223 | Yes | 0 | 21 |
3:195785074-195785074 | COSM222891 | MUC4_ENST00000463781 | ENST00000463781 | p.A2169V | c.6506C>T | No | 99999 | No | 3203 | Yes | 0 | 11 |
12:11133565-11133565 | COSM223519 | TAS2R30 | ENST00000539585 | p.A227V | c.680C>T | No | 99999 | Yes | 0 | No | 23 | 13 |
3:195788263-195788263 | COSM224249 | MUC4_ENST00000463781 | ENST00000463781 | p.P1106H | c.3317C>A | No | 99999 | No | 4266 | Yes | 0 | 17 |
3:195782692-195782692 | COSM224885 | MUC4_ENST00000463781 | ENST00000463781 | p.V2963D | c.8888T>A | No | 99999 | No | 2409 | Yes | 0 | 13 |
3:195782780-195782780 | COSM224887 | MUC4_ENST00000463781 | ENST00000463781 | p.L2934F | c.8800C>T | No | 99999 | No | 2438 | Yes | 0 | 19 |
15:22081427-22081427 | COSM225031 | OR4M2 | ENST00000332663 | p.S268F | c.803C>T | No | 99999 | No | 8 | Yes | 0 | 13 |
17:63951662-63951662 | COSM225056 | SCN4A | ENST00000435607 | p.E872G | c.2615A>G | No | 99999 | No | 26 | Yes | 0 | 21 |
4:1394969-1394969 | COSM225540 | CRIPAK | ENST00000324803 | p.M153T | c.458T>C | Yes | 0 | No | 99999 | No | 99999 | 23 |
5:140841610-140841610 | COSM225564 | PCDHA8 | ENST00000378123 | p.G97R | c.289G>C | No | 99999 | No | 599 | Yes | 0 | 21 |
5:140841610-140841610 | COSM225565 | PCDHA8_ENST00000531613 | ENST00000531613 | p.G97R | c.289G>C | No | 99999 | No | 599 | Yes | 0 | 21 |
22:42127634-42127634 | COSM225813 | CYP2D6 | ENST00000359033 | p.R278L | c.833G>T | No | 99999 | No | 254 | Yes | 0 | 28 |
6:10756495-10756495 | COSM226573 | TMEM14B | ENST00000379542 | p.R108C | c.322C>T | No | 99999 | Yes | 0 | No | 5 | 13 |
9:33385237-33385237 | COSM226649 | AQP7 | ENST00000297988 | p.Y266S | c.797A>C | No | 99999 | Yes | 0 | No | 13 | 21 |
3:195780116-195780116 | COSM226963 | MUC4_ENST00000463781 | ENST00000463781 | p.T3822A | c.11464A>G | No | 99999 | No | 1550 | Yes | 0 | 17 |
11:67991845-67991845 | COSM227082 | UNC93B6 | ENST00000227471 | p.V498M | c.1492G>A | No | 99999 | Yes | 0 | No | 5 | 22 |
4:1394843-1394843 | COSM227471 | CRIPAK | ENST00000324803 | p.P111R | c.332C>G | Yes | 0 | No | 99999 | No | 99999 | 12 |
3:195786975-195786975 | COSM228380 | MUC4_ENST00000463781 | ENST00000463781 | p.M1535I | c.4605G>C | No | 99999 | No | 3837 | Yes | 0 | 20 |
2:128268653-128268653 | COSM228870 | HS6ST1 | ENST00000259241 | p.R249S | c.745C>A | No | 99999 | No | 212 | Yes | 0 | 18 |
11:58358426-58358426 | COSM230229 | OR5B17 | ENST00000357377 | p.S215F | c.644C>T | No | 99999 | Yes | 0 | No | 11 | 11 |
14:18601819-18601819 | COSM230280 | OR11H12 | ENST00000550708 | p.L235I | c.703C>A | No | 99999 | Yes | 0 | No | 17 | 20 |
3:195782503-195782503 | COSM231019 | MUC4_ENST00000463781 | ENST00000463781 | p.H3026P | c.9077A>C | No | 99999 | No | 2346 | Yes | 0 | 11 |
7:147132246-147132246 | COSM232056 | CNTNAP2 | ENST00000361727 | p.G362E | c.1085G>A | No | 99999 | No | 899 | Yes | 0 | 11 |
6:31271229-31271229 | COSM232488 | HLA-C | ENST00000376228 | p.R155S | c.463C>A | No | 99999 | No | 151 | Yes | 0 | 18 |
6:127515980-127515980 | COSM243399 | C6orf174 | ENST00000368268 | p.E212G | c.635A>G | No | 99999 | No | 707 | Yes | 0 | 12 |
1:120069399-120069399 | COSM246074 | NOTCH2 | ENST00000256646 | p.A3V | c.8C>T | No | 99999 | No | 1646 | Yes | 0 | 12 |
20:1915243-1915243 | COSM248832 | SIRPA | ENST00000356025 | p.G75A | c.224G>C | No | 99999 | No | 297 | Yes | 0 | 21 |
3:195787653-195787653 | COSM249085 | MUC4_ENST00000463781 | ENST00000463781 | p.H1309Q | c.3927C>G | No | 99999 | No | 4063 | Yes | 0 | 14 |
23:119469766-119469766 | COSM250165 | SLC25A5 | ENST00000317881 | p.G73S | c.217G>A | No | 99999 | No | 36 | Yes | 0 | 24 |
5:55964233-55964247 | COSM251361 | IL6ST | ENST00000381298 | p.Y186_Y190delYSTVY | c.557_571del15 | No | 99999 | No | 434 | Yes | 0 | 15 |
2:147926117-147926117 | COSM252949 | ACVR2A | ENST00000241416 | p.K437fs*5 | c.1303delA | No | 99999 | No | 276 | Yes | 0 | 80 |
13:49661073-49661073 | COSM252993 | EBPL | ENST00000242827 | p.F172fs*7 | c.516delT | No | 99999 | Yes | 0 | No | 11 | 25 |
1:248349082-248349082 | COSM253044 | OR14C36 | ENST00000317861 | p.F105fs*28 | c.308delT | No | 99999 | Yes | 0 | No | 10 | 10 |
11:55638666-55638666 | COSM253045 | OR4P4 | ENST00000314612 | p.F105fs*4 | c.309delT | No | 99999 | Yes | 0 | No | 6 | 10 |
11:62882057-62882057 | COSM253097 | SLC3A2 | ENST00000377892 | p.K331fs*31 | c.985delA | No | 99999 | No | 95 | Yes | 0 | 27 |
1:81943106-81943106 | COSM261807 | LPHN2 | ENST00000359929 | p.R179C | c.535C>T | No | 99999 | No | 658 | Yes | 0 | 10 |
1:81943106-81943106 | COSM261808 | LPHN2_ENST00000370725 | ENST00000370725 | p.R179C | c.535C>T | No | 99999 | No | 671 | Yes | 0 | 10 |
17:58357800-58357800 | COSM270052 | RNF43 | ENST00000407977 | p.G659fs*41 | c.1976delG | No | 99999 | No | 441 | Yes | 0 | 48 |
1:204954905-204954905 | COSM273009 | NFASC | ENST00000360049 | p.P159fs*12 | c.471delC | No | 99999 | No | 879 | Yes | 0 | 14 |
1:204954905-204954905 | COSM273010 | NFASC_ENST00000339876 | ENST00000339876 | p.P165fs*12 | c.489delC | No | 99999 | No | 944 | Yes | 0 | 14 |
17:69251855-69251855 | COSM273817 | ABCA5 | ENST00000392676 | p.R1476Q | c.4427G>A | No | 99999 | No | 247 | Yes | 0 | 10 |
11:78073101-78073101 | COSM291745 | NDUFC2 | ENST00000281031 | p.F69fs*7 | c.207delT | No | 99999 | Yes | 0 | No | 14 | 27 |
1:110363805-110363805 | COSM291751 | SLC16A4 | ENST00000369779 | p.F475fs*12 | c.1425delT | No | 99999 | Yes | 0 | No | 17 | 15 |
8:24309959-24309960 | COSM292287 | ADAM28 | ENST00000265769 | p.N75fs*15 | c.216_217insA | No | 99999 | No | 589 | Yes | 0 | 11 |
11:30012016-30012016 | COSM293643 | KCNA4 | ENST00000328224 | p.F221fs*21 | c.663delT | No | 99999 | No | 83 | Yes | 0 | 12 |
1:207614408-207614408 | COSM301989 | CR1 | ENST00000400960 | p.R1744* | c.5230C>T | No | 99999 | No | 230 | Yes | 0 | 16 |
1:207614408-207614408 | COSM301990 | CR1_ENST00000367049 | ENST00000367049 | p.R2194* | c.6580C>T | No | 99999 | No | 230 | Yes | 0 | 13 |
1:247921447-247921447 | COSM302809 | OR2T8 | ENST00000319968 | p.L144M | c.430C>A | No | 99999 | Yes | 0 | No | 17 | 24 |
19:15741685-15741685 | COSM304705 | OR10H3 | ENST00000305892 | p.C98F | c.293G>T | No | 99999 | Yes | 0 | No | 6 | 22 |
22:42127634-42127634 | COSM304740 | CYP2D6_ENST00000360608 | ENST00000360608 | p.R329L | c.986G>T | No | 99999 | No | 305 | Yes | 0 | 27 |
12:42119136-42119136 | COSM307297 | GXYLT1 | ENST00000398675 | p.H117L | c.350A>T | No | 99999 | No | 88 | Yes | 0 | 35 |
12:42119136-42119136 | COSM307298 | Q8IXV1_HUMAN | ENST00000280876 | p.H86L | c.257A>T | No | 99999 | No | 57 | Yes | 0 | 35 |
12:42087886-42087886 | COSM307299 | GXYLT1 | ENST00000398675 | p.K408I | c.1223A>T | No | 99999 | No | 379 | Yes | 0 | 10 |
12:42087886-42087886 | COSM307300 | Q8IXV1_HUMAN | ENST00000280876 | p.K377I | c.1130A>T | No | 99999 | No | 348 | Yes | 0 | 10 |
17:21415757-21415757 | COSM312196 | KCNJ12 | ENST00000331718 | p.E139K | c.415G>A | No | 99999 | Yes | 0 | No | 14 | 28 |
17:21416124-21416124 | COSM312197 | KCNJ12 | ENST00000331718 | p.R261H | c.782G>A | No | 99999 | No | 84 | Yes | 0 | 31 |
17:21416127-21416127 | COSM312198 | KCNJ12 | ENST00000331718 | p.I262S | c.785T>G | No | 99999 | No | 85 | Yes | 0 | 30 |
17:21416207-21416207 | COSM312202 | KCNJ12 | ENST00000331718 | p.E289Q | c.865G>C | No | 99999 | No | 112 | Yes | 0 | 29 |
17:21416474-21416474 | COSM312204 | KCNJ12 | ENST00000331718 | p.E378K | c.1132G>A | No | 99999 | No | 201 | Yes | 0 | 25 |
6:99934482-99934482 | COSM312791 | MCHR2 | ENST00000369212 | p.F208fs*5 | c.623delT | No | 99999 | Yes | 0 | No | 10 | 25 |
5:141122905-141122905 | COSM313986 | PCDHB4 | ENST00000194152 | p.K305fs*12 | c.907delA | No | 99999 | No | 383 | Yes | 0 | 11 |
16:81208544-81208545 | COSM314178 | PKD1L2_ENST00000525539 | ENST00000525539 | p.N236fs*26 | c.706_707delAA | No | 99999 | No | 1110 | Yes | 0 | 21 |
7:121331825-121331825 | COSM316572 | WNT16 | ENST00000222462 | p.G167fs*17 | c.494delG | No | 99999 | No | 138 | Yes | 0 | 19 |
4:152337831-152337831 | COSM327086 | FBXW7_NM_018315_2 | ENST00000263981 | p.R198* | c.592C>T | No | 99999 | No | 169 | Yes | 0 | 10 |
1:161712022-161712022 | COSM328517 | FCRLA | NM_032738.3 | p.L196F | c.588G>T | No | 99999 | No | 169 | Yes | 0 | 11 |
12:50994550-50994550 | COSM328521 | SLC11A2 | ENST00000262052 | p.Y357* | c.1071C>A | No | 99999 | No | 3 | Yes | 0 | 15 |
5:76618279-76618279 | COSM328529 | F2RL2 | ENST00000296641 | p.C143F | c.428G>T | No | 99999 | Yes | 0 | No | 10 | 14 |
10:122835024-122835024 | COSM328532 | CUZD1 | ENST00000368904 | p.R355H | c.1064G>A | No | 99999 | No | 216 | Yes | 0 | 13 |
3:122961294-122961294 | COSM328560 | SEMA5B_ENST00000451055 | ENST00000451055 | p.G44G | c.132T>C | No | 99999 | No | 1045 | Yes | 0 | 11 |
5:151325346-151325346 | COSM328569 | SLC36A2 | ENST00000335244 | p.G317V | c.950G>T | No | 99999 | Yes | 0 | No | 3 | 13 |
6:10586309-10586309 | COSM328570 | GCNT2_ENST00000265012 | ENST00000265012 | p.F107S | c.320T>C | No | 99999 | No | 83 | Yes | 0 | 15 |
16:66387020-66387020 | COSM328585 | CDH5 | ENST00000341529 | p.V141D | c.422T>A | No | 99999 | No | 112 | Yes | 0 | 15 |
17:64895913-64895913 | COSM328586 | LRRC37A3 | ENST00000319651 | p.V449I | c.1345G>A | No | 99999 | No | 1133 | Yes | 0 | 21 |
14:20243056-20243056 | COSM328593 | OR11H4 | ENST00000315409 | p.P89T | c.265C>A | No | 99999 | Yes | 0 | No | 5 | 11 |
6:31355134-31355134 | COSM328606 | HLA-B | ENST00000412585 | p.A329T | c.985G>A | No | 99999 | Yes | 0 | No | 22 | 19 |
6:31271653-31271653 | COSM329393 | HLA-C | ENST00000376228 | p.A97T | c.289G>A | No | 99999 | No | 209 | Yes | 0 | 16 |
6:31271653-31271653 | COSM329394 | HLA-C_ENST00000383329 | ENST00000383329 | p.A97T | c.289G>A | No | 99999 | No | 209 | Yes | 0 | 16 |
6:33080884-33080884 | COSM329395 | HLA-DPB1 | ENST00000418931 | p.M105V | c.313A>G | No | 99999 | No | 121 | Yes | 0 | 16 |
20:3237988-3237988 | COSM330384 | SLC4A11_ENST00000380059 | ENST00000380059 | p.P26R | c.77C>G | No | 99999 | No | 376 | Yes | 0 | 10 |
11:115209623-115209623 | COSM346973 | CADM1 | ENST00000452722 | p.T343T | c.1029C>A | No | 99999 | No | 31 | Yes | 0 | 14 |
6:29942830-29942830 | COSM379373 | HLA-A | ENST00000396634 | p.V49V | c.147G>C | No | 99999 | No | 259 | Yes | 0 | 13 |
11:4682245-4682245 | COSM392143 | OR51E2 | ENST00000396950 | p.F156fs*6 | c.467delT | No | 99999 | No | 2 | Yes | 0 | 23 |
10:96576718-96576718 | COSM392624 | TM9SF3 | ENST00000371142 | p.S72fs*31 | c.214delA | No | 99999 | No | 151 | Yes | 0 | 20 |
1:177278759-177278759 | COSM400909 | FAM5B | ENST00000361539 | p.Q403H | c.1209G>T | No | 99999 | No | 360 | Yes | 0 | 10 |
3:195778965-195778965 | COSM420070 | MUC4_ENST00000463781 | ENST00000463781 | p.H4205Q | c.12615C>G | No | 99999 | No | 1167 | Yes | 0 | 49 |
1:116579663-116579664 | COSM423549 | IGSF3_ENST00000369483 | ENST00000369483 | p.D1040_D1041insE | c.3122_3123insGGA | No | 99999 | No | 105 | Yes | 0 | 11 |
1:116579663-116579664 | COSM423550 | IGSF3 | ENST00000369486 | p.D1020_D1021insE | c.3062_3063insGGA | No | 99999 | No | 105 | Yes | 0 | 11 |
1:248574433-248574433 | COSM425943 | OR2T34 | ENST00000328782 | p.H109Y | c.325C>T | No | 99999 | Yes | 0 | No | 7 | 17 |
11:56094117-56094117 | COSM429200 | OR8I2 | ENST00000302124 | p.A270A | c.810G>A | No | 99999 | Yes | 0 | No | 2 | 22 |
11:89178528-89178528 | COSM430000 | TYR | ENST00000263321 | p.S192Y | c.575C>A | No | 99999 | No | 282 | Yes | 0 | 12 |
12:82857336-82857336 | COSM431917 | TMTC2 | ENST00000321196 | p.V137G | c.410T>G | No | 99999 | Yes | 0 | No | 4 | 15 |
17:21415918-21415918 | COSM436189 | KCNJ12 | ENST00000331718 | p.Q192H | c.576G>C | No | 99999 | No | 15 | Yes | 0 | 26 |
18:63318646-63318646 | COSM438303 | BCL2 | ENST00000398117 | p.T7T | c.21A>G | No | 99999 | No | 207 | Yes | 0 | 16 |
18:63318646-63318646 | COSM438304 | BCL2_ENST00000398117 | ENST00000398117 | p.T7T | c.21A>G | No | 99999 | No | 207 | Yes | 0 | 16 |
19:1004897-1004898 | COSM438433 | GRIN3B | ENST00000234389 | p.G466fs*18 | c.1396_1397insCGTT | No | 99999 | No | 109 | Yes | 0 | 12 |
19:2732988-2732988 | COSM439145 | SLC39A3 | ENST00000269740 | p.V236V | c.708A>G | No | 99999 | Yes | 0 | No | 15 | 32 |
19:49423276-49423276 | COSM439970 | PTH2 | ENST00000270631 | p.L22V | c.64C>G | No | 99999 | Yes | 0 | No | 14 | 20 |
2:46480669-46480669 | COSM442956 | ENSG00000187600_ENST00000434431 | ENST00000434431 | p.Q128E | c.382C>G | No | 99999 | No | 39 | Yes | 0 | 19 |
2:46480712-46480712 | COSM442957 | ENSG00000187600_ENST00000434431 | ENST00000434431 | p.R142Q | c.425G>A | No | 99999 | No | 25 | Yes | 0 | 11 |
22:42127526-42127526 | COSM445067 | CYP2D6_ENST00000360608 | ENST00000360608 | p.R365H | c.1094G>A | No | 99999 | No | 341 | Yes | 0 | 17 |
22:42127526-42127526 | COSM445068 | CYP2D6 | ENST00000359033 | p.R314H | c.941G>A | No | 99999 | No | 290 | Yes | 0 | 17 |
3:126541765-126541765 | COSM445510 | CHST13 | ENST00000319340 | p.R71R | c.213G>T | No | 99999 | No | 41 | Yes | 0 | 10 |
3:195779089-195779089 | COSM446226 | MUC4_ENST00000463781 | ENST00000463781 | p.T4164S | c.12491C>G | No | 99999 | No | 1208 | Yes | 0 | 19 |
3:195780191-195780191 | COSM446231 | MUC4_ENST00000463781 | ENST00000463781 | p.D3797N | c.11389G>A | No | 99999 | No | 1575 | Yes | 0 | 22 |
3:195780371-195780371 | COSM446232 | MUC4_ENST00000463781 | ENST00000463781 | p.A3737S | c.11209G>T | No | 99999 | No | 1635 | Yes | 0 | 22 |
3:195781237-195781237 | COSM446233 | MUC4_ENST00000463781 | ENST00000463781 | p.S3448L | c.10343C>T | No | 99999 | No | 1924 | Yes | 0 | 15 |
3:195782558-195782558 | COSM446236 | MUC4_ENST00000463781 | ENST00000463781 | p.S3008P | c.9022T>C | No | 99999 | No | 2364 | Yes | 0 | 19 |
3:195788132-195788132 | COSM446249 | MUC4_ENST00000463781 | ENST00000463781 | p.T1150A | c.3448A>G | No | 99999 | No | 4222 | Yes | 0 | 18 |
5:179644957-179644957 | COSM449449 | C5orf60 | ENST00000448248 | p.D22H | c.64G>C | No | 99999 | No | 14 | Yes | 0 | 23 |
6:29942601-29942601 | COSM451146 | HLA-A | ENST00000396634 | p.A16A | c.48C>T | No | 99999 | No | 292 | Yes | 0 | 10 |
6:29942827-29942827 | COSM451147 | HLA-A | ENST00000396634 | p.A48A | c.144C>A | No | 99999 | No | 260 | Yes | 0 | 31 |
6:29942953-29942953 | COSM451148 | HLA-A | ENST00000396634 | p.N90K | c.270T>A | No | 99999 | No | 218 | Yes | 0 | 16 |
6:29943519-29943519 | COSM451150 | HLA-A | ENST00000396634 | p.G199R | c.595G>A | No | 99999 | No | 109 | Yes | 0 | 12 |
6:31271153-31271153 | COSM451199 | HLA-C | ENST00000376228 | p.L180R | c.539T>G | No | 99999 | No | 126 | Yes | 0 | 16 |
6:31271153-31271153 | COSM451200 | HLA-C_ENST00000383329 | ENST00000383329 | p.L180R | c.539T>G | No | 99999 | No | 126 | Yes | 0 | 16 |
6:31412384-31412385 | COSM451203 | MICA | ENST00000364810 | p.G318fs*>16 | c.952_953insCT | No | 99999 | Yes | 0 | No | 12 | 16 |
6:32522045-32522045 | COSM451266 | HLA-DRB5 | ENST00000374975 | p.R77Q | c.230G>A | No | 99999 | No | 151 | Yes | 0 | 12 |
6:32581675-32581675 | COSM451268 | HLA-DRB1 | ENST00000360004 | p.Q178H | c.534G>C | No | 99999 | No | 50 | Yes | 0 | 18 |
6:32666541-32666541 | COSM451273 | HLA-DQB1 | ENST00000399084 | p.A23S | c.67G>T | No | 99999 | No | 209 | Yes | 0 | 11 |
7:151064227-151064227 | COSM452631 | SLC4A2 | ENST00000485713 | p.G26E | c.77G>A | No | 99999 | No | 683 | Yes | 0 | 11 |
7:91265144-91265145 | COSM453536 | FZD1 | ENST00000287934 | p.Q88_P89insP | c.264_265insCCG | No | 99999 | No | 233 | Yes | 0 | 14 |
8:141357300-141357300 | COSM454108 | GPR20 | ENST00000377741 | p.P208P | c.624C>T | No | 99999 | Yes | 0 | No | 12 | 12 |
9:123365974-123365974 | COSM455327 | CRB2 | ENST00000373631 | p.G159A | c.476G>C | No | 99999 | No | 124 | Yes | 0 | 10 |
1:237784121-237784121 | COSM464208 | RYR2 | ENST00000366574 | p.E4137K | c.12409G>A | No | 99999 | No | 143 | Yes | 0 | 10 |
10:43163971-43163971 | COSM465649 | CSGALNACT2 | ENST00000374466 | p.L362F | c.1086G>T | No | 99999 | No | 330 | Yes | 0 | 12 |
15:33670422-33670422 | COSM470504 | RYR3 | ENST00000389232 | p.V1909G | c.5726T>G | No | 99999 | No | 2276 | Yes | 0 | 14 |
15:66561037-66561037 | COSM470990 | LCTL | ENST00000341509 | p.G225V | c.674G>T | No | 99999 | No | 316 | Yes | 0 | 15 |
20:35174924-35174924 | COSM478068 | PROCR | ENST00000374477 | p.R98L | c.293G>T | No | 99999 | No | 112 | Yes | 0 | 16 |
3:126988701-126988701 | COSM479363 | PLXNA1 | ENST00000393409 | p.G36G | c.108T>G | No | 99999 | No | 10 | Yes | 0 | 28 |
3:195778984-195778984 | COSM479890 | MUC4_ENST00000463781 | ENST00000463781 | p.S4199Y | c.12596C>A | No | 99999 | No | 1173 | Yes | 0 | 11 |
3:195779228-195779228 | COSM479894 | MUC4_ENST00000463781 | ENST00000463781 | p.T4118A | c.12352A>G | No | 99999 | No | 1254 | Yes | 0 | 14 |
3:195779444-195779444 | COSM479895 | MUC4_ENST00000463781 | ENST00000463781 | p.T4046A | c.12136A>G | No | 99999 | No | 1326 | Yes | 0 | 13 |
3:195779732-195779732 | COSM479900 | MUC4_ENST00000463781 | ENST00000463781 | p.T3950A | c.11848A>G | No | 99999 | No | 1422 | Yes | 0 | 14 |
3:195779756-195779756 | COSM479901 | MUC4_ENST00000463781 | ENST00000463781 | p.T3942P | c.11824A>C | No | 99999 | No | 1430 | Yes | 0 | 13 |
3:195779875-195779875 | COSM479902 | MUC4_ENST00000463781 | ENST00000463781 | p.A3902V | c.11705C>T | No | 99999 | No | 1470 | Yes | 0 | 20 |
3:195780357-195780357 | COSM479905 | MUC4_ENST00000463781 | ENST00000463781 | p.H3741Q | c.11223C>G | No | 99999 | No | 1631 | Yes | 0 | 18 |
5:141394609-141394609 | COSM482206 | PCDHGA8 | ENST00000398604 | p.G599V | c.1796G>T | No | 99999 | No | 93 | Yes | 0 | 10 |
12:130163008-130163008 | COSM547024 | FZD10 | ENST00000229030 | p.S22R | c.66C>A | No | 99999 | No | 206 | Yes | 0 | 12 |
22:26541248-26541248 | COSM579826 | TPST2 | ENST00000398110 | p.V128G | c.383T>G | No | 99999 | No | 99 | Yes | 0 | 15 |
12:42105909-42105909 | COSM693132 | GXYLT1 | ENST00000398675 | p.R258L | c.773G>T | No | 99999 | No | 229 | Yes | 0 | 18 |
12:42105909-42105909 | COSM693133 | Q8IXV1_HUMAN | ENST00000280876 | p.R227L | c.680G>T | No | 99999 | No | 198 | Yes | 0 | 18 |
17:7482898-7482898 | COSM707187 | POLR2A_ENST00000412468 | ENST00000412468 | p.V305A | c.914T>C | No | 99999 | No | 4 | Yes | 0 | 14 |
6:29942916-29942916 | COSM741501 | HLA-A | ENST00000396634 | p.Q78R | c.233A>G | No | 99999 | No | 230 | Yes | 0 | 21 |
8:112311061-112311061 | COSM748670 | CSMD3 | ENST00000297405 | p.R2601Q | c.7802G>A | No | 99999 | No | 1029 | Yes | 0 | 14 |
10:121520163-121520163 | COSM915506 | FGFR2_ENST00000357555 | ENST00000357555 | p.S163W | c.488C>G | No | 99999 | No | 123 | Yes | 0 | 12 |
10:121520163-121520163 | COSM915507 | FGFR2_ENST00000351936 | ENST00000351936 | p.S252W | c.755C>G | No | 99999 | No | 123 | Yes | 0 | 19 |
11:61393885-61393885 | COSM929454 | TMEM216 | ENST00000515837 | p.G46G | c.138T>G | No | 99999 | No | 4 | Yes | 0 | 22 |
11:6390706-6390711 | COSM930080 | SMPD1_ENST00000342245 | ENST00000342245 | p.A48_L49delAL | c.108_113delGCTGGC | No | 99999 | Yes | 0 | No | 2 | 18 |
11:6390706-6390711 | COSM930081 | SMPD1 | ENST00000299397 | p.A48_L49delAL | c.108_113delGCTGGC | No | 99999 | Yes | 0 | No | 2 | 18 |
12:55320808-55320808 | COSM941263 | OR6C1 | ENST00000379668 | p.S70L | c.209C>T | No | 99999 | Yes | 0 | No | 12 | 10 |
19:49969964-49969964 | COSM999554 | ENSG00000161643 | ENST00000326071 | p.W65R | c.193T>C | No | 99999 | No | 331 | Yes | 0 | 16 |
2:46480745-46480745 | COSM1021182 | ENSG00000187600_ENST00000434431 | ENST00000434431 | p.Q153R | c.458A>G | No | 99999 | No | 14 | Yes | 0 | 12 |
3:195778943-195778943 | COSM1042833 | MUC4_ENST00000463781 | ENST00000463781 | p.D4213N | c.12637G>A | No | 99999 | No | 1159 | Yes | 0 | 15 |
3:195779516-195779516 | COSM1042842 | MUC4_ENST00000463781 | ENST00000463781 | p.P4022T | c.12064C>A | No | 99999 | No | 1350 | Yes | 0 | 17 |
3:195779876-195779876 | COSM1042846 | MUC4_ENST00000463781 | ENST00000463781 | p.A3902T | c.11704G>A | No | 99999 | No | 1470 | Yes | 0 | 11 |
3:195780103-195780103 | COSM1042848 | MUC4_ENST00000463781 | ENST00000463781 | p.P3826L | c.11477C>T | No | 99999 | No | 1546 | Yes | 0 | 18 |
3:195783008-195783008 | COSM1042886 | MUC4_ENST00000463781 | ENST00000463781 | p.S2858P | c.8572T>C | No | 99999 | No | 2514 | Yes | 0 | 20 |
3:195785696-195785696 | COSM1042913 | MUC4_ENST00000463781 | ENST00000463781 | p.P1962S | c.5884C>T | No | 99999 | No | 3410 | Yes | 0 | 13 |
3:195785726-195785726 | COSM1042915 | MUC4_ENST00000463781 | ENST00000463781 | p.P1952S | c.5854C>T | No | 99999 | No | 3420 | Yes | 0 | 18 |
3:195786644-195786644 | COSM1042931 | MUC4_ENST00000463781 | ENST00000463781 | p.A1646T | c.4936G>A | No | 99999 | No | 3726 | Yes | 0 | 14 |
7:100969674-100969675 | COSM1083212 | MUC12 | ENST00000536621 | p.T18_T19insA | c.52_53insCTG | No | 99999 | No | 5220 | Yes | 0 | 27 |
7:12224364-12224364 | COSM1084861 | TMEM106B | ENST00000396667 | p.R140R | c.420T>G | No | 99999 | No | 22 | Yes | 0 | 11 |
7:147300240-147300240 | COSM1086966 | CNTNAP2 | ENST00000361727 | p.R483Q | c.1448G>A | No | 99999 | No | 778 | Yes | 0 | 11 |
7:37741192-37741192 | COSM1089434 | GPR141 | ENST00000334425 | p.E267K | c.799G>A | No | 99999 | No | 2 | Yes | 0 | 10 |
23:100407010-100407010 | COSM1126587 | PCDH19_NM_020766_1 | NM_020766.1 | p.E31K | c.91G>A | No | 99999 | No | 149 | Yes | 0 | 11 |
1:158765950-158765950 | COSM1127314 | OR6N1 | ENST00000335094 | p.F245L | c.733T>C | No | 99999 | Yes | 0 | No | 16 | 14 |
12:63570819-63570819 | COSM1128502 | DPY19L2 | ENST00000324472 | p.I647V | c.1939A>G | No | 99999 | No | 95 | Yes | 0 | 12 |
16:66398520-66398520 | COSM1128913 | CDH5 | ENST00000341529 | p.I517T | c.1550T>C | No | 99999 | No | 81 | Yes | 0 | 16 |
2:137056698-137056698 | COSM1129559 | THSD7B | ENST00000272643 | p.H140N | c.418C>A | No | 99999 | No | 1420 | Yes | 0 | 10 |
19:50519382-50519382 | COSM1129746 | LRRC4B | ENST00000389201 | p.H111N | c.331C>A | No | 99999 | No | 464 | Yes | 0 | 13 |
19:38360815-38360815 | COSM1129873 | CATSPERG | ENST00000312265 | p.T258P | c.772A>C | No | 99999 | No | 455 | Yes | 0 | 15 |
22:42128922-42128922 | COSM1130420 | CYP2D6_ENST00000360608 | ENST00000360608 | p.G176G | c.528T>C | No | 99999 | No | 152 | Yes | 0 | 11 |
22:42128922-42128922 | COSM1130421 | CYP2D6 | ENST00000359033 | p.G125G | c.375T>C | No | 99999 | No | 101 | Yes | 0 | 11 |
5:141375879-141375879 | COSM1130863 | PCDHGA6_ENST00000517434 | ENST00000517434 | p.G599V | c.1796G>T | No | 99999 | No | 93 | Yes | 0 | 11 |
5:140802516-140802516 | COSM1130916 | PCDHA3 | ENST00000378129 | p.S440I | c.1319G>T | No | 99999 | No | 256 | Yes | 0 | 12 |
4:61732971-61732971 | COSM1131096 | LPHN3_ENST00000514591 | ENST00000514591 | p.H204H | c.612C>T | No | 99999 | No | 676 | Yes | 0 | 20 |
4:61732971-61732971 | COSM1131097 | LPHN3 | ENST00000512091 | p.H204H | c.612C>T | No | 99999 | No | 676 | Yes | 0 | 20 |
4:61732971-61732971 | COSM1131098 | LPHN3_ENST00000512091 | ENST00000512091 | p.H204H | c.612C>T | No | 99999 | No | 676 | Yes | 0 | 20 |
4:55113391-55113391 | COSM1131107 | KDR | ENST00000263923 | p.V297I | c.889G>A | No | 99999 | No | 437 | Yes | 0 | 14 |
3:75937590-75937590 | COSM1131352 | ROBO2_ENST00000487694 | ENST00000487694 | p.G33* | c.97G>T | No | 99999 | No | 2 | Yes | 0 | 12 |
3:195788578-195788578 | COSM1131502 | MUC4_ENST00000463781 | ENST00000463781 | p.V1001E | c.3002T>A | No | 99999 | No | 4371 | Yes | 0 | 19 |
3:195788516-195788516 | COSM1131503 | MUC4_ENST00000463781 | ENST00000463781 | p.T1022A | c.3064A>G | No | 99999 | No | 4350 | Yes | 0 | 19 |
3:195784909-195784909 | COSM1131504 | MUC4_ENST00000463781 | ENST00000463781 | p.P2224L | c.6671C>T | No | 99999 | No | 3148 | Yes | 0 | 13 |
3:195784271-195784271 | COSM1131505 | MUC4_ENST00000463781 | ENST00000463781 | p.N2437D | c.7309A>G | No | 99999 | No | 2935 | Yes | 0 | 20 |
6:29942845-29942845 | COSM1131940 | HLA-A | ENST00000396634 | p.D54D | c.162C>T | No | 99999 | No | 254 | Yes | 0 | 19 |
9:41953308-41953308 | COSM1132474 | CNTNAP3B | ENST00000377564 | p.L652R | c.1955T>G | No | 99999 | No | 592 | Yes | 0 | 17 |
9:41996327-41996327 | COSM1132475 | CNTNAP3B | ENST00000377564 | p.S317T | c.949T>A | No | 99999 | No | 927 | Yes | 0 | 24 |
11:49186715-49186715 | COSM1132961 | FOLH1 | ENST00000256999 | p.R190W | c.568C>T | No | 99999 | No | 147 | Yes | 0 | 13 |
3:195779205-195779205 | COSM1133008 | MUC4_ENST00000463781 | ENST00000463781 | p.Q4125H | c.12375G>C | No | 99999 | No | 1247 | Yes | 0 | 17 |
4:1801837-1801837 | COSM1133721 | FGFR3_ENST00000340107 | ENST00000340107 | p.R248C | c.742C>T | No | 99999 | No | 127 | Yes | 0 | 11 |
3:195779735-195779735 | COSM1136987 | MUC4_ENST00000463781 | ENST00000463781 | p.D3949H | c.11845G>C | No | 99999 | No | 1423 | Yes | 0 | 13 |
3:195780112-195780112 | COSM1136988 | MUC4_ENST00000463781 | ENST00000463781 | p.T3823I | c.11468C>T | No | 99999 | No | 1549 | Yes | 0 | 12 |
3:195783323-195783323 | COSM1136999 | MUC4_ENST00000463781 | ENST00000463781 | p.L2753V | c.8257C>G | No | 99999 | No | 2619 | Yes | 0 | 19 |
3:195784654-195784654 | COSM1137000 | MUC4_ENST00000463781 | ENST00000463781 | p.D2309G | c.6926A>G | No | 99999 | No | 3063 | Yes | 0 | 25 |
4:1801841-1801841 | COSM1149892 | FGFR3_ENST00000340107 | ENST00000340107 | p.S249C | c.746C>G | No | 99999 | No | 126 | Yes | 0 | 21 |
8:112311061-112311061 | COSM1150916 | CSMD3_ENST00000343508 | ENST00000343508 | p.R2561Q | c.7682G>A | No | 99999 | No | 1029 | Yes | 0 | 14 |
10:121520163-121520163 | COSM1152153 | FGFR2_ENST00000457416 | ENST00000457416 | p.S252W | c.755C>G | No | 99999 | No | 124 | Yes | 0 | 19 |
17:81810872-81810872 | COSM1153188 | GCGR | ENST00000400723 | p.T71P | c.211A>C | No | 99999 | No | 74 | Yes | 0 | 13 |
17:81810872-81810872 | COSM1153189 | GCGR_ENST00000400723 | ENST00000400723_v68 | p.T71P | c.211A>C | No | 99999 | No | 74 | Yes | 0 | 13 |
19:49969964-49969964 | COSM1153419 | SIGLEC16 | ENST00000456956 | p.W65R | c.193T>C | No | 99999 | No | 370 | Yes | 0 | 15 |
7:155812035-155812035 | COSM1159825 | SHH | ENST00000297261 | p.F30V | c.88T>G | No | 99999 | No | 1 | Yes | 0 | 10 |
1:67329655-67329655 | COSM1161837 | IL12RB2 | ENST00000262345 | p.Y245H | c.733T>C | No | 99999 | No | 378 | Yes | 0 | 11 |
1:206960687-206960687 | COSM1161840 | FCAMR_ENST00000324852 | ENST00000324852 | p.V397fs*56 | c.1189delG | No | 99999 | No | 99 | Yes | 0 | 11 |
2:28578152-28578152 | COSM1161841 | PLB1 | ENST00000327757 | p.N493K | c.1479T>A | No | 99999 | No | 922 | Yes | 0 | 10 |
2:28578152-28578152 | COSM1161842 | PLB1_ENST00000422425 | ENST00000422425 | p.N504K | c.1512T>A | No | 99999 | No | 900 | Yes | 0 | 10 |
6:167136951-167136951 | COSM1161854 | CCR6 | ENST00000400926 | p.L241M | c.721T>A | No | 99999 | Yes | 0 | No | 22 | 11 |
7:122013068-122013068 | COSM1161856 | PTPRZ1_ENST00000393386 | ENST00000393386 | p.K1341R | c.4022A>G | No | 99999 | No | 299 | Yes | 0 | 11 |
7:122013068-122013068 | COSM1161857 | PTPRZ1 | ENST00000393386 | p.K1341R | c.4022A>G | No | 99999 | No | 299 | Yes | 0 | 11 |
8:117804755-117804755 | COSM1161859 | EXT1 | ENST00000378204 | p.Q674H | c.2022G>C | No | 99999 | No | 648 | Yes | 0 | 11 |
19:50908789-50908789 | COSM1161879 | KLK4 | ENST00000324041 | p.D89N | c.265G>A | No | 99999 | No | 65 | Yes | 0 | 11 |
16:68361258-68361258 | COSM1162286 | SMPD3 | ENST00000219334 | p.H639P | c.1916A>C | No | 99999 | No | 560 | Yes | 0 | 26 |
9:97330686-97330687 | COSM1162573 | KIAA1529 | ENST00000375206 | p.E919_K920insEE | c.2742_2743insGAGGAG | No | 99999 | No | 862 | Yes | 0 | 11 |
11:48325109-48325117 | COSM1163639 | OR4C3 | ENST00000319856 | p.L57_I59delLLI | c.169_177delTTGCTGATC | No | 99999 | Yes | 0 | No | 6 | 26 |
15:92655449-92655454 | COSM1167521 | FAM174B | ENST00000327355 | p.S69_S70delSS | c.206_211delGCTCCA | No | 99999 | No | 24 | Yes | 0 | 11 |
7:88282916-88282916 | COSM1176790 | STEAP4 | ENST00000380079 | p.R237C | c.709C>T | No | 99999 | No | 9 | Yes | 0 | 10 |
12:108623896-108623896 | COSM1177601 | SELPLG_ENST00000550948 | ENST00000550948 | p.P138A | c.412C>G | No | 99999 | No | 183 | Yes | 0 | 13 |
22:24183081-24183081 | COSM1178084 | SUSD2 | ENST00000358321 | p.R34H | c.101G>A | No | 99999 | No | 752 | Yes | 0 | 24 |
7:12229791-12229791 | COSM1178511 | TMEM106B | ENST00000396667 | p.T185S | c.554C>G | No | 99999 | No | 67 | Yes | 0 | 19 |
1:248638644-248638650 | COSM1179048 | OR2T35 | ENST00000317450 | p.C203fs*1 | c.609_615delCGTGCTG | No | 99999 | Yes | 0 | No | 7 | 27 |
6:29943529-29943529 | COSM1179359 | HLA-A | ENST00000396634 | p.T202M | c.605C>T | No | 99999 | No | 106 | Yes | 0 | 10 |
6:51868009-51868009 | COSM1179827 | PKHD1 | ENST00000371117 | p.G2529G | c.7587G>A | No | 99999 | No | 1330 | Yes | 0 | 21 |
11:48325364-48325364 | COSM1180649 | OR4C3 | ENST00000319856 | p.V142L | c.424G>C | No | 99999 | Yes | 0 | No | 20 | 25 |
12:11031077-11031077 | COSM1180662 | TAS2R31 | ENST00000390675 | p.V87I | c.259G>A | No | 99999 | Yes | 0 | No | 3 | 24 |
12:98527894-98527894 | COSM1180796 | TMPO | ENST00000556029 | p.T99fs*12 | c.288delA | No | 99999 | No | 312 | Yes | 0 | 11 |
15:79458244-79458244 | COSM1180821 | KIAA1024 | ENST00000305428 | p.S702fs*11 | c.2097delA | No | 99999 | No | 190 | Yes | 0 | 32 |
2:202555407-202555407 | COSM1180896 | BMPR2 | ENST00000374580 | p.N583fs*44 | c.1742delA | No | 99999 | No | 409 | Yes | 0 | 48 |
3:30650380-30650380 | COSM1180952 | TGFBR2 | NM_003242 | p.K128fs*35 | c.374delA | No | 99999 | No | 39 | Yes | 0 | 33 |
5:141478175-141478175 | COSM1180990 | PCDHGC3 | ENST00000308177 | p.N689fs*10 | c.2059delA | No | 99999 | No | 4 | Yes | 0 | 10 |
5:141478175-141478175 | COSM1180991 | PCDHGC3_ENST00000308177 | ENST00000308177 | p.N689fs*10 | c.2059delA | No | 99999 | No | 4 | Yes | 0 | 10 |
6:160064456-160064456 | COSM1181016 | IGF2R | ENST00000356956 | p.D1317fs*27 | c.3942delG | No | 99999 | No | 988 | Yes | 0 | 18 |
12:82857341-82857341 | COSM1188560 | TMTC2 | ENST00000321196 | p.R139G | c.415C>G | No | 99999 | Yes | 0 | No | 6 | 16 |
1:100068566-100068566 | COSM1192779 | HIAT1 | ENST00000370152 | p.L269fs*6 | c.799delT | No | 99999 | No | 2 | Yes | 0 | 18 |
12:66138157-66138157 | COSM1192841 | TMBIM4 | ENST00000358230 | p.Y174fs*4 | c.520delT | No | 99999 | Yes | 0 | No | 1 | 40 |
3:195780046-195780046 | COSM1236209 | MUC4_ENST00000463781 | ENST00000463781 | p.I3845S | c.11534T>G | No | 99999 | No | 1527 | Yes | 0 | 20 |
11:118349868-118349868 | COSM1247707 | CD3G | ENST00000532917 | p.K71fs*40 | c.205delA | No | 99999 | No | 44 | Yes | 0 | 31 |
7:117548696-117548696 | COSM1284105 | CFTR | ENST00000003084 | p.S422F | c.1265C>T | No | 99999 | No | 96 | Yes | 0 | 15 |
7:147486029-147486029 | COSM1284196 | CNTNAP2 | ENST00000361727 | p.T589P | c.1765A>C | No | 99999 | No | 672 | Yes | 0 | 12 |
17:21416087-21416087 | COSM1285667 | KCNJ12 | ENST00000331718 | p.I249V | c.745A>G | No | 99999 | No | 72 | Yes | 0 | 10 |
11:319873-319873 | COSM1293367 | IFITM3 | ENST00000399808 | p.V123I | c.367G>A | No | 99999 | Yes | 0 | No | 6 | 12 |
12:56088557-56088557 | COSM1299647 | ERBB3 | ENST00000267101 | p.D297Y | c.889G>T | No | 99999 | No | 347 | Yes | 0 | 10 |
4:102911493-102911493 | COSM1315920 | NHEDC1 | ENST00000296422 | p.I292F | c.874A>T | No | 99999 | Yes | 0 | No | 17 | 11 |
3:195783470-195783470 | COSM1316028 | MUC4_ENST00000463781 | ENST00000463781 | p.S2704P | c.8110T>C | No | 99999 | No | 2668 | Yes | 0 | 24 |
3:195779698-195779698 | COSM1316113 | MUC4_ENST00000463781 | ENST00000463781 | p.V3961A | c.11882T>C | No | 99999 | No | 1411 | Yes | 0 | 16 |
1:86580214-86580219 | COSM1317507 | CLCA4 | ENST00000370563 | p.T886_P887delTP | c.2629_2634delCCTACA | No | 99999 | No | 8 | Yes | 0 | 24 |
17:64896153-64896153 | COSM1318461 | LRRC37A3 | ENST00000319651 | p.S369T | c.1105T>A | No | 99999 | No | 1213 | Yes | 0 | 19 |
3:195780391-195780391 | COSM1318694 | MUC4_ENST00000463781 | ENST00000463781 | p.H3730P | c.11189A>C | No | 99999 | No | 1642 | Yes | 0 | 16 |
6:32580767-32580767 | COSM1319106 | HLA-DRB1 | ENST00000360004 | p.I248L | c.742A>C | No | 99999 | Yes | 0 | No | 21 | 17 |
4:4188868-4188868 | COSM1319338 | OTOP1 | ENST00000296358 | p.P592A | c.1774C>G | No | 99999 | Yes | 0 | No | 14 | 12 |
6:29887804-29887809 | COSM1329119 | ENSG00000196306 | ENST00000360432 | p.L21_T22delLT | c.53_58delCCCTGA | No | 99999 | No | 288 | Yes | 0 | 21 |
7:100787940-100787974 | COSM1329483 | ZAN_ENST00000546213 | ENST00000546213 | p.F818fs*10 | c.2450_2484del35 | No | 99999 | No | 310 | Yes | 0 | 11 |
1:1354730-1354730 | COSM1333407 | MXRA8 | ENST00000309212 | p.R301fs*107 | c.901delC | No | 99999 | No | 40 | Yes | 0 | 21 |
1:230995821-230995821 | COSM1340032 | ARV1 | ENST00000310256 | p.K173fs*8 | c.510delA | No | 99999 | No | 4 | Yes | 0 | 20 |
1:40290871-40290871 | COSM1342613 | ZMPSTE24 | ENST00000372759 | p.L362fs*5 | c.1077delT | No | 99999 | Yes | 0 | No | 18 | 12 |
10:104033992-104033992 | COSM1345633 | COL17A1 | ENST00000353479 | p.D1370G | c.4109A>G | No | 99999 | No | 881 | Yes | 0 | 11 |
10:124021237-124021237 | COSM1346551 | CHST15_ENST00000421115 | ENST00000421115 | p.R456fs*28 | c.1366delC | No | 99999 | No | 354 | Yes | 0 | 10 |
10:76970028-76970028 | COSM1349216 | KCNMA1_ENST00000406533 | ENST00000406533 | p.K773fs*17 | c.2318delA | No | 99999 | No | 388 | Yes | 0 | 12 |
11:119098433-119098433 | COSM1351778 | DPAGT1 | ENST00000354202 | p.F233fs*28 | c.698delT | No | 99999 | Yes | 0 | No | 12 | 15 |
11:26565880-26565880 | COSM1353297 | MUC15_ENST00000436318 | ENST00000436318 | p.K20fs*12 | c.60delA | No | 99999 | No | 245 | Yes | 0 | 21 |
11:5120791-5120791 | COSM1354293 | OR52A4 | ENST00000380369 | p.F263fs*>42 | c.788delT | No | 99999 | Yes | 0 | No | 13 | 14 |
11:63758184-63758184 | COSM1355573 | RTN3_ENST00000341307 | ENST00000341307 | p.G215fs*3 | c.635delA | No | 99999 | No | 17 | Yes | 0 | 11 |
12:108623875-108623904 | COSM1358533 | SELPLG_ENST00000550948 | ENST00000550948 | p.Q135_T144del10 | c.404_433del30 | No | 99999 | No | 186 | Yes | 0 | 10 |
12:122716146-122716146 | COSM1359643 | HCAR3_ENST00000528880 | ENST00000528880 | p.F198L | c.592T>C | No | 99999 | Yes | 0 | No | 8 | 20 |
12:122716146-122716146 | COSM1359644 | GPR109B | ENST00000528880 | p.F198L | c.592T>C | No | 99999 | Yes | 0 | No | 8 | 20 |
12:122716146-122716146 | COSM1359645 | HCAR3 | ENST00000528880 | p.F198L | c.592T>C | No | 99999 | Yes | 0 | No | 8 | 20 |
12:42119122-42119122 | COSM1361532 | GXYLT1 | ENST00000398675 | p.A122T | c.364G>A | No | 99999 | No | 93 | Yes | 0 | 25 |
12:42119122-42119122 | COSM1361533 | Q8IXV1_HUMAN | ENST00000280876 | p.A91T | c.271G>A | No | 99999 | No | 62 | Yes | 0 | 25 |
12:57210156-57210157 | COSM1363263 | LRP1 | ENST00000243077 | p.D4193fs*9 | c.12567_12568insC | No | 99999 | No | 228 | Yes | 0 | 11 |
12:95257193-95257193 | COSM1364955 | VEZT | ENST00000436874 | p.S74fs*38 | c.212delT | No | 99999 | No | 86 | Yes | 0 | 18 |
12:95257193-95257193 | COSM1364956 | VEZT_ENST00000436874 | ENST00000436874 | p.S74fs*38 | c.212delT | No | 99999 | No | 86 | Yes | 0 | 18 |
13:85794985-85794985 | COSM1367972 | SLITRK6 | ENST00000400286 | p.L508L | c.1524G>A | No | 99999 | No | 103 | Yes | 0 | 24 |
13:95043762-95043762 | COSM1368033 | ABCC4 | ENST00000376887 | p.I1219fs*11 | c.3655delA | No | 99999 | No | 221 | Yes | 0 | 10 |
13:95043762-95043762 | COSM1368034 | ABCC4_ENST00000376887 | ENST00000376887 | p.I1219fs*11 | c.3655delA | No | 99999 | No | 221 | Yes | 0 | 10 |
14:45176752-45176752 | COSM1369858 | FANCM | ENST00000267430 | p.V1336fs*2 | c.3998delA | No | 99999 | No | 1212 | Yes | 0 | 13 |
15:22081073-22081073 | COSM1372005 | OR4M2 | ENST00000332663 | p.G152fs*23 | c.449delG | No | 99999 | Yes | 0 | No | 12 | 10 |
15:22095113-22095113 | COSM1372015 | OR4N4 | ENST00000328795 | p.L198I | c.592C>A | No | 99999 | No | 2 | Yes | 0 | 15 |
15:25681032-25681032 | COSM1372118 | ATP10A | ENST00000356865 | p.A1179T | c.3535G>A | No | 99999 | Yes | 0 | No | 15 | 10 |
16:10773346-10773346 | COSM1375771 | FAM18A | ENST00000299866 | p.F140fs*7 | c.420delT | No | 99999 | Yes | 0 | No | 6 | 32 |
17:50356606-50356606 | COSM1384188 | XYLT2 | ENST00000017003 | p.G529fs*78 | c.1578delC | No | 99999 | No | 494 | Yes | 0 | 26 |
17:69129626-69129626 | COSM1385539 | ABCA6 | ENST00000284425 | p.L306fs*7 | c.917delT | No | 99999 | Yes | 0 | No | 11 | 10 |
17:69222639-69222639 | COSM1385567 | ABCA10 | ENST00000269081 | p.K31fs*18 | c.93delA | No | 99999 | No | 103 | Yes | 0 | 10 |
18:59345962-59345962 | COSM1389372 | LMAN1 | ENST00000251047 | p.E305fs*22 | c.912delA | No | 99999 | No | 171 | Yes | 0 | 34 |
19:14799826-14799826 | COSM1390990 | OR7C1 | ENST00000248073 | p.F104fs*12 | c.311delT | No | 99999 | Yes | 0 | No | 7 | 10 |
19:40880589-40880589 | COSM1393917 | CYP2A7 | ENST00000301146 | p.L128R | c.383T>G | No | 99999 | No | 104 | Yes | 0 | 23 |
19:40880622-40880622 | COSM1393918 | CYP2A7 | ENST00000301146 | p.A117V | c.350C>T | No | 99999 | No | 93 | Yes | 0 | 28 |
19:48955714-48955714 | COSM1395150 | BAX_ENST00000345358 | ENST00000345358 | p.E41fs*19 | c.114delG | No | 99999 | No | 128 | Yes | 0 | 33 |
20:1915413-1915413 | COSM1410604 | SIRPA | ENST00000356025 | p.V132M | c.394G>A | No | 99999 | No | 240 | Yes | 0 | 15 |
20:1915414-1915414 | COSM1410605 | SIRPA | ENST00000356025 | p.V132A | c.395T>C | No | 99999 | No | 240 | Yes | 0 | 15 |
22:20142999-20142999 | COSM1414944 | ZDHHC8 | ENST00000334554 | p.T459fs*177 | c.1369delC | No | 99999 | No | 252 | Yes | 0 | 17 |
22:50064062-50064062 | COSM1416980 | MLC1 | ENST00000395876 | p.N344S | c.1031A>G | No | 99999 | No | 19 | Yes | 0 | 12 |
3:195779842-195779889 | COSM1421890 | MUC4_ENST00000463781 | ENST00000463781 | p.R3900_T3915del16 | c.11691_11738del48 | No | 99999 | No | 1472 | Yes | 0 | 13 |
3:195781199-195781199 | COSM1421896 | MUC4_ENST00000463781 | ENST00000463781 | p.D3461N | c.10381G>A | No | 99999 | No | 1911 | Yes | 0 | 12 |
3:195781639-195781639 | COSM1421902 | MUC4_ENST00000463781 | ENST00000463781 | p.L3314H | c.9941T>A | No | 99999 | No | 2058 | Yes | 0 | 21 |
3:195788127-195788174 | COSM1421926 | MUC4_ENST00000463781 | ENST00000463781 | p.S1136_T1151del16 | c.3406_3453del48 | No | 99999 | No | 4236 | Yes | 0 | 18 |
4:1394806-1394834 | COSM1427137 | CRIPAK | ENST00000324803 | p.C110fs*288 | c.295_323del29 | Yes | 0 | No | 99999 | No | 99999 | 16 |
4:1394834-1394835 | COSM1427139 | CRIPAK | ENST00000324803 | p.C110fs*81 | c.323_324insCA | Yes | 0 | No | 99999 | No | 99999 | 20 |
4:1395029-1395029 | COSM1427144 | CRIPAK | ENST00000324803 | p.P173R | c.518C>G | Yes | 0 | No | 99999 | No | 99999 | 17 |
4:15994057-15994057 | COSM1428143 | PROM1 | ENST00000447510 | p.N566fs*29 | c.1697delA | No | 99999 | No | 63 | Yes | 0 | 12 |
4:84635322-84635322 | COSM1431461 | CDS1 | ENST00000295887 | p.F263fs*6 | c.781delT | No | 99999 | Yes | 0 | No | 23 | 15 |
5:141194181-141194181 | COSM1434267 | PCDHB10 | ENST00000239446 | p.R543S | c.1629A>C | No | 99999 | No | 148 | Yes | 0 | 18 |
5:157052433-157052435 | COSM1435509 | HAVCR1 | ENST00000339252 | p.T200delT | c.599_601delCAA | No | 99999 | No | 96 | Yes | 0 | 10 |
5:180739230-180739230 | COSM1436706 | OR2Y1 | ENST00000307832 | p.Y277fs*3 | c.829delT | No | 99999 | Yes | 0 | No | 6 | 10 |
6:29943495-29943495 | COSM1442956 | HLA-A | ENST00000396634 | p.W191G | c.571T>G | No | 99999 | No | 117 | Yes | 0 | 18 |
6:31271337-31271337 | COSM1443252 | HLA-C | ENST00000376228 | p.L119I | c.355C>A | No | 99999 | No | 187 | Yes | 0 | 14 |
6:31271337-31271337 | COSM1443253 | HLA-C_ENST00000383329 | ENST00000383329 | p.L119I | c.355C>A | No | 99999 | No | 187 | Yes | 0 | 16 |
6:31271339-31271339 | COSM1443254 | HLA-C | ENST00000376228 | p.T118I | c.353C>T | No | 99999 | No | 188 | Yes | 0 | 12 |
6:31271339-31271339 | COSM1443255 | HLA-C_ENST00000383329 | ENST00000383329 | p.T118I | c.353C>T | No | 99999 | No | 188 | Yes | 0 | 14 |
6:31356367-31356367 | COSM1443265 | HLA-B | ENST00000412585 | p.Y140S | c.419A>C | No | 99999 | No | 168 | Yes | 0 | 11 |
6:31356739-31356739 | COSM1443267 | HLA-B | ENST00000412585 | p.D98Y | c.292G>T | No | 99999 | No | 210 | Yes | 0 | 12 |
6:31412384-31412384 | COSM1443269 | MICA | ENST00000364810 | p.G318fs*>15 | c.952delG | No | 99999 | Yes | 0 | No | 12 | 21 |
6:32589709-32589709 | COSM1443632 | HLA-DRB1 | ENST00000360004 | p.M12L | c.34A>T | No | 99999 | No | 216 | Yes | 0 | 14 |
6:32589712-32589712 | COSM1443633 | HLA-DRB1 | ENST00000360004 | p.C11S | c.31T>A | No | 99999 | No | 217 | Yes | 0 | 14 |
6:32641430-32641430 | COSM1443634 | HLA-DQA1 | ENST00000374949 | p.A68V | c.203C>T | No | 99999 | No | 150 | Yes | 0 | 15 |
6:32641462-32641464 | COSM1443635 | HLA-DQA1 | ENST00000374949 | p.G79delG | c.235_237delGGT | No | 99999 | No | 139 | Yes | 0 | 24 |
6:32641519-32641520 | COSM1443636 | HLA-DQA1 | ENST00000374949 | p.I98fs*4 | c.292_293insG | No | 99999 | No | 120 | Yes | 0 | 11 |
6:32641522-32641522 | COSM1443637 | HLA-DQA1 | ENST00000374949 | p.M99fs*1 | c.295delA | No | 99999 | No | 119 | Yes | 0 | 11 |
7:100773850-100773850 | COSM1446677 | ZAN_ENST00000546213 | ENST00000546213 | p.R433C | c.1297C>T | No | 99999 | No | 695 | Yes | 0 | 12 |
7:138917777-138917777 | COSM1448410 | KIAA1549_ENST00000242365 | ENST00000242365_v65 | p.R567G | c.1699A>G | No | 99999 | No | 380 | Yes | 0 | 14 |
7:150948446-150948446 | COSM1449213 | KCNH2 | ENST00000262186 | p.K897T | c.2690A>C | No | 99999 | No | 235 | Yes | 0 | 10 |
7:17814942-17814942 | COSM1449778 | SNX13 | ENST00000428135 | p.L652F | c.1956A>T | No | 99999 | No | 601 | Yes | 0 | 22 |
7:55181370-55181370 | COSM1451600 | EGFR | ENST00000275493 | p.Q787Q | c.2361G>A | No | 99999 | Yes | 0 | No | 9 | 10 |
7:77794143-77794143 | COSM1452161 | TMEM60 | ENST00000257663 | p.A78fs*11 | c.231delA | No | 99999 | Yes | 0 | No | 19 | 36 |
8:112228800-112228800 | COSM1454124 | CSMD3 | ENST00000297405 | p.F3640fs*61 | c.10920delT | No | 99999 | Yes | 0 | No | 11 | 12 |
8:112228800-112228800 | COSM1454125 | CSMD3_ENST00000343508 | ENST00000343508 | p.F3600fs*61 | c.10800delT | No | 99999 | Yes | 0 | No | 11 | 12 |
8:32595993-32595993 | COSM1456726 | NRG1 | ENST00000356819 | p.K91fs*24 | c.266delA | No | 99999 | No | 157 | Yes | 0 | 11 |
8:32595993-32595993 | COSM1456727 | NRG1_ENST00000521670 | ENST00000521670 | p.K91fs*24 | c.266delA | No | 99999 | No | 152 | Yes | 0 | 11 |
9:33385692-33385692 | COSM1462069 | AQP7 | ENST00000297988 | p.R234S | c.700C>A | No | 99999 | No | 9 | Yes | 0 | 16 |
9:33385700-33385700 | COSM1462070 | AQP7 | ENST00000297988 | p.L231P | c.692T>C | No | 99999 | No | 6 | Yes | 0 | 18 |
9:33385752-33385752 | COSM1462071 | AQP7 | ENST00000297988 | p.G214R | c.640G>A | No | 99999 | Yes | 0 | No | 12 | 14 |
9:33385830-33385830 | COSM1462073 | AQP7 | ENST00000297988 | p.A188T | c.562G>A | No | 99999 | Yes | 0 | No | 21 | 28 |
9:5801292-5801292 | COSM1462630 | ERMP1 | ENST00000339450 | p.T651fs*3 | c.1951delA | No | 99999 | Yes | 0 | No | 23 | 15 |
23:106694026-106694026 | COSM1464669 | RNF128_ENST00000324342 | ENST00000324342 | p.W11fs*4 | c.24delT | No | 99999 | Yes | 0 | No | 2 | 24 |
23:119469881-119469881 | COSM1465204 | SLC25A5 | ENST00000317881 | p.L111R | c.332T>G | No | 99999 | Yes | 0 | No | 3 | 21 |
23:135546392-135546392 | COSM1465768 | DDX26B | NM_182540.2 | p.L120fs*1 | c.352delT | No | 99999 | No | 303 | Yes | 0 | 12 |
23:2915564-2915564 | COSM1467373 | ARSD | ENST00000381154 | p.W331* | c.992G>A | No | 99999 | No | 17 | Yes | 0 | 13 |
23:2915597-2915597 | COSM1467376 | ARSD | ENST00000381154 | p.G320D | c.959G>A | No | 99999 | No | 6 | Yes | 0 | 15 |
23:2915602-2915602 | COSM1467377 | ARSD | ENST00000381154 | p.Q318H | c.954G>T | No | 99999 | No | 4 | Yes | 0 | 11 |
9:41898466-41898466 | COSM1472297 | CNTNAP3B | ENST00000377564 | p.M1247I | c.3741G>C | No | 99999 | Yes | 0 | No | 4 | 30 |
11:6390701-6390712 | COSM1475711 | SMPD1_ENST00000342245 | ENST00000342245 | p.V36_L39delVLAL | c.103_114del12 | No | 99999 | Yes | 0 | No | 14 | 13 |
11:6390701-6390712 | COSM1475712 | SMPD1 | ENST00000299397 | p.V36_L39delVLAL | c.103_114del12 | No | 99999 | Yes | 0 | No | 14 | 13 |
14:18601382-18601382 | COSM1477407 | OR11H12 | ENST00000550708 | p.V89A | c.266T>C | No | 99999 | Yes | 0 | No | 10 | 12 |
14:18601918-18601918 | COSM1477408 | OR11H12 | ENST00000550708 | p.S268G | c.802A>G | No | 99999 | Yes | 0 | No | 8 | 18 |
17:46546365-46546365 | COSM1479676 | LRRC37A2 | ENST00000333412 | p.T1055I | c.3164C>T | No | 99999 | No | 527 | Yes | 0 | 10 |
17:64896041-64896041 | COSM1479875 | LRRC37A3 | ENST00000319651 | p.A406D | c.1217C>A | No | 99999 | No | 1176 | Yes | 0 | 11 |
19:111016-111016 | COSM1480541 | OR4F17 | ENST00000318050 | p.F113C | c.338T>G | No | 99999 | Yes | 0 | No | 23 | 17 |
2:128318303-128318303 | COSM1481920 | HS6ST1 | ENST00000259241 | p.D87E | c.261C>A | No | 99999 | No | 50 | Yes | 0 | 31 |
22:15528179-15528179 | COSM1484041 | OR11H1 | ENST00000252835 | p.Q7H | c.21G>T | No | 99999 | No | 35 | Yes | 0 | 19 |
3:195780069-195780069 | COSM1485008 | MUC4_ENST00000463781 | ENST00000463781 | p.H3837Q | c.11511C>G | No | 99999 | No | 1535 | Yes | 0 | 16 |
3:195780119-195780119 | COSM1485010 | MUC4_ENST00000463781 | ENST00000463781 | p.D3821H | c.11461G>C | No | 99999 | No | 1551 | Yes | 0 | 19 |
3:195784652-195784652 | COSM1485026 | MUC4_ENST00000463781 | ENST00000463781 | p.A2310P | c.6928G>C | No | 99999 | No | 3062 | Yes | 0 | 23 |
3:195788137-195788137 | COSM1485032 | MUC4_ENST00000463781 | ENST00000463781 | p.G1148A | c.3443G>C | No | 99999 | No | 4224 | Yes | 0 | 19 |
6:32589669-32589669 | COSM1487653 | HLA-DRB1 | ENST00000360004 | p.P25R | c.74C>G | No | 99999 | No | 203 | Yes | 0 | 11 |
7:100999874-100999874 | COSM1488051 | MUC12 | ENST00000536621 | p.K3104I | c.9311A>T | No | 99999 | No | 2134 | Yes | 0 | 10 |
7:101002918-101002918 | COSM1488054 | MUC12 | ENST00000536621 | p.F4119L | c.12355T>C | No | 99999 | No | 1119 | Yes | 0 | 14 |
7:101004057-101004057 | COSM1488058 | MUC12 | ENST00000536621 | p.D4498E | c.13494C>A | No | 99999 | No | 740 | Yes | 0 | 27 |
7:101004058-101004058 | COSM1488059 | MUC12 | ENST00000536621 | p.A4499T | c.13495G>A | No | 99999 | No | 739 | Yes | 0 | 29 |
9:41938349-41938349 | COSM1490046 | CNTNAP3B | ENST00000377564 | p.S711Y | c.2132C>A | No | 99999 | No | 533 | Yes | 0 | 20 |
23:119469743-119469744 | COSM1490417 | SLC25A5 | ENST00000317881 | p.V67fs*8 | c.194_195insG | No | 99999 | No | 42 | Yes | 0 | 30 |
11:94545146-94545146 | COSM1510481 | FUT4 | ENST00000358752 | p.H338P | c.1013A>C | No | 99999 | No | 168 | Yes | 0 | 13 |
5:1237962-1237962 | COSM1541614 | SLC6A18 | ENST00000324642 | p.T212P | c.634A>C | No | 99999 | Yes | 0 | No | 19 | 11 |
6:29888175-29888175 | COSM1546080 | ENSG00000196306 | ENST00000360432 | p.E100D | c.300A>C | No | 99999 | No | 209 | Yes | 0 | 11 |
11:319843-319843 | COSM1559353 | IFITM3 | ENST00000399808 | p.G133R | c.397G>C | No | 99999 | No | 5 | Yes | 0 | 11 |
11:319846-319846 | COSM1559354 | IFITM3 | ENST00000399808 | p.Y132H | c.394T>C | No | 99999 | No | 4 | Yes | 0 | 10 |
11:319861-319861 | COSM1559355 | IFITM3 | ENST00000399808 | p.L127L | c.379C>T | No | 99999 | Yes | 0 | No | 2 | 11 |
11:319903-319903 | COSM1559356 | IFITM3 | ENST00000399808 | p.L113L | c.337C>T | No | 99999 | Yes | 0 | No | 16 | 12 |
11:379598-379598 | COSM1561413 | B4GALNT4 | ENST00000329962 | p.E795E | c.2385A>G | No | 99999 | No | 760 | Yes | 0 | 10 |
14:104604454-104604454 | COSM1562728 | TMEM179 | ENST00000341595 | p.L96L | c.288C>A | No | 99999 | No | 1 | Yes | 0 | 10 |
17:21416556-21416556 | COSM1563379 | KCNJ12 | ENST00000331718 | p.S405I | c.1214G>T | No | 99999 | No | 228 | Yes | 0 | 26 |
4:1395368-1395368 | COSM1567003 | CRIPAK | ENST00000324803 | p.M286T | c.857T>C | Yes | 0 | No | 99999 | No | 99999 | 20 |
6:95587005-95587006 | COSM1596536 | MANEA_ENST00000369293 | ENST00000369293 | p.V190fs*21 | c.566_567insTATG | No | 99999 | No | 164 | Yes | 0 | 15 |
20:1915317-1915317 | COSM1599885 | SIRPA | ENST00000356025 | p.N100D | c.298A>G | No | 99999 | No | 272 | Yes | 0 | 16 |
20:1915319-1915319 | COSM1599896 | SIRPA | ENST00000356025 | p.N100K | c.300C>A | No | 99999 | No | 272 | Yes | 0 | 16 |
1:248295374-248295374 | COSM1600062 | OR2T12 | ENST00000317996 | p.M69V | c.205A>G | No | 99999 | Yes | 0 | No | 13 | 24 |
7:100994324-100994324 | COSM1600243 | MUC12 | ENST00000536621 | p.K1254T | c.3761A>C | No | 99999 | No | 3984 | Yes | 0 | 11 |
17:21415973-21415973 | COSM1600357 | KCNJ12 | ENST00000331718 | p.L211F | c.631C>T | No | 99999 | No | 34 | Yes | 0 | 30 |
4:54733095-54733095 | COSM1600411 | KIT | ENST00000288135 | p.R796K | c.2387G>A | No | 99999 | No | 121 | Yes | 0 | 18 |
1:120069346-120069346 | COSM1600651 | NOTCH2 | ENST00000256646 | p.A21T | c.61G>A | No | 99999 | No | 1628 | Yes | 0 | 29 |
1:203217819-203217819 | COSM1601540 | CHIT1 | ENST00000367229 | p.A359G | c.1076C>G | No | 99999 | No | 337 | Yes | 0 | 11 |
1:25420739-25420739 | COSM1602112 | RHCE | ENST00000294413 | p.C16W | c.48C>G | No | 99999 | Yes | 0 | No | 19 | 19 |
20:1611474-1611474 | COSM1615350 | SIRPB1_ENST00000279477 | ENST00000279477 | p.R106S | c.316C>A | No | 99999 | No | 266 | Yes | 0 | 14 |
20:23049058-23049058 | COSM1615400 | THBD | ENST00000377103 | p.S149R | c.447C>G | No | 99999 | No | 368 | Yes | 0 | 24 |
3:195779059-195779059 | COSM1617356 | MUC4_ENST00000463781 | ENST00000463781 | p.G4174A | c.12521G>C | No | 99999 | No | 1198 | Yes | 0 | 25 |
3:195780322-195780322 | COSM1617358 | MUC4_ENST00000463781 | ENST00000463781 | p.A3753V | c.11258C>T | No | 99999 | No | 1619 | Yes | 0 | 20 |
3:195780380-195780380 | COSM1617360 | MUC4_ENST00000463781 | ENST00000463781 | p.P3734T | c.11200C>A | No | 99999 | No | 1638 | Yes | 0 | 17 |
3:195784039-195784039 | COSM1617367 | MUC4_ENST00000463781 | ENST00000463781 | p.P2514H | c.7541C>A | No | 99999 | No | 2858 | Yes | 0 | 12 |
3:195784603-195784603 | COSM1617377 | MUC4_ENST00000463781 | ENST00000463781 | p.L2326P | c.6977T>C | No | 99999 | No | 3046 | Yes | 0 | 11 |
4:4237860-4237860 | COSM1618843 | TMEM128 | ENST00000254742 | p.V134V | c.402C>A | No | 99999 | Yes | 0 | No | 17 | 10 |
5:157052547-157052561 | COSM1619912 | HAVCR1 | ENST00000339252 | p.M158_P162delMTTVP | c.473_487del15 | No | 99999 | No | 138 | Yes | 0 | 23 |
7:139483188-139483188 | COSM1622418 | KLRG2 | ENST00000340940 | p.K152T | c.455A>C | No | 99999 | No | 109 | Yes | 0 | 17 |
23:3018634-3018634 | COSM1625813 | ARSH | ENST00000381130 | p.Y289D | c.865T>G | No | 99999 | No | 71 | Yes | 0 | 16 |
12:10435931-10435931 | COSM1628343 | KLRC2 | ENST00000381902 | p.R19P | c.56G>C | No | 99999 | No | 56 | Yes | 0 | 22 |
17:21415695-21415695 | COSM1630088 | KCNJ12 | ENST00000331718 | p.R118Q | c.353G>A | No | 99999 | No | 8 | Yes | 0 | 25 |
3:195783263-195783263 | COSM1633073 | MUC4_ENST00000463781 | ENST00000463781 | p.N2773D | c.8317A>G | No | 99999 | No | 2599 | Yes | 0 | 18 |
6:32661416-32661416 | COSM1638027 | HLA-DQB1 | ENST00000399084 | p.V235I | c.703G>A | No | 99999 | Yes | 0 | No | 4 | 21 |
9:95447312-95447312 | COSM1638394 | PTCH1 | ENST00000331920 | p.P1315L | c.3944C>T | No | 99999 | No | 144 | Yes | 0 | 17 |
9:95447312-95447312 | COSM1638395 | PTCH1_ENST00000331920 | ENST00000331920 | p.P1315L | c.3944C>T | No | 99999 | No | 144 | Yes | 0 | 17 |
9:95447312-95447312 | COSM1638396 | PTCH1_ENST00000375274 | ENST00000375274 | p.P1314L | c.3941C>T | No | 99999 | No | 144 | Yes | 0 | 17 |
9:95447312-95447312 | COSM1638397 | PTCH1_ENST00000430669 | ENST00000375274 | p.P1314L | c.3941C>T | No | 99999 | No | 144 | Yes | 0 | 18 |
2:218339877-218339877 | COSM1651338 | PNKD_ENST00000258362 | ENST00000258362 | p.T87P | c.259A>C | No | 99999 | No | 18 | Yes | 0 | 22 |
23:71167502-71167502 | COSM1666175 | NLGN3_ENST00000358741 | ENST00000358741 | p.T469P | c.1405A>C | No | 99999 | No | 239 | Yes | 0 | 12 |
23:71167502-71167502 | COSM1666176 | NLGN3 | ENST00000374051 | p.T449P | c.1345A>C | No | 99999 | No | 239 | Yes | 0 | 12 |
10:43114671-43114671 | COSM1666596 | RET | ENST00000355710 | p.G691S | c.2071G>A | No | 99999 | No | 659 | Yes | 0 | 10 |
10:43114671-43114671 | COSM1666597 | RET_ENST00000340058 | ENST00000340058 | p.G691S | c.2071G>A | No | 99999 | No | 659 | Yes | 0 | 10 |
4:1804372-1804372 | COSM1666838 | FGFR3_ENST00000340107 | ENST00000340107 | p.Y375C | c.1124A>G | No | 99999 | Yes | 0 | No | 1 | 17 |
4:54267559-54267559 | COSM1666925 | PDGFRA | ENST00000257290 | p.G313G | c.939T>G | No | 99999 | No | 214 | Yes | 0 | 11 |
11:56376014-56376014 | COSM1676015 | OR8U1 | ENST00000302270 | p.L131M | c.391T>A | No | 99999 | Yes | 0 | No | 17 | 14 |
12:108623898-108623898 | COSM1677321 | SELPLG_ENST00000550948 | ENST00000550948 | p.V137A | c.410T>C | No | 99999 | No | 184 | Yes | 0 | 10 |
5:157052559-157052560 | COSM1683628 | HAVCR1 | ENST00000339252 | p.T160_V161insT | c.474_475insACA | No | 99999 | No | 136 | Yes | 0 | 18 |
11:5489314-5489315 | COSM1683657 | OR52D1 | ENST00000322641 | p.T204fs*33 | c.608_609insGGCT | No | 99999 | Yes | 0 | No | 20 | 12 |
16:81208545-81208546 | COSM1684462 | PKD1L2_ENST00000525539 | ENST00000525539 | p.N236fs*26 | c.705_706delAA | No | 99999 | No | 1110 | Yes | 0 | 26 |
11:128911724-128911724 | COSM1684717 | KCNJ5 | ENST00000338350 | p.G151R | c.451G>A | No | 99999 | No | 14 | Yes | 0 | 164 |
11:128911776-128911776 | COSM1684718 | KCNJ5 | ENST00000338350 | p.L168R | c.503T>G | No | 99999 | Yes | 0 | No | 4 | 218 |
11:128911724-128911724 | COSM1684720 | KCNJ5 | ENST00000338350 | p.G151R | c.451G>C | No | 99999 | No | 14 | Yes | 0 | 58 |
1:43985014-43985014 | COSM1685129 | B4GALT2_ENST00000309519 | ENST00000309519 | p.Q262H | c.786A>C | No | 99999 | No | 196 | Yes | 0 | 15 |
1:43985014-43985014 | COSM1685130 | B4GALT2 | ENST00000356836 | p.Q233H | c.699A>C | No | 99999 | No | 198 | Yes | 0 | 15 |
5:31317433-31317433 | COSM1695532 | CDH6 | ENST00000265071 | p.S524L | c.1571C>T | No | 99999 | No | 90 | Yes | 0 | 12 |
14:19827570-19827570 | COSM1707065 | OR4N2 | ENST00000315947 | p.G41E | c.122G>A | No | 99999 | Yes | 0 | No | 17 | 11 |
16:69954560-69954560 | COSM1716108 | CLEC18A | ENST00000288040 | p.T148S | c.443C>G | Yes | 0 | No | 99999 | No | 99999 | 10 |
3:165019768-165019768 | COSM1717059 | SI | ENST00000264382 | p.W1086* | c.3257G>A | No | 99999 | No | 1054 | Yes | 0 | 10 |
4:47851921-47851921 | COSM1717336 | NFXL1 | ENST00000381538 | p.R815G | c.2443C>G | No | 99999 | No | 74 | Yes | 0 | 10 |
1:206965765-206965765 | COSM1717340 | FCAMR_ENST00000324852 | ENST00000324852 | p.T88R | c.263C>G | No | 99999 | No | 408 | Yes | 0 | 10 |
11:128911724-128911724 | COSM1717380 | KCNJ5 | ENST00000338350 | p.G151R | c.451G>M | No | 99999 | No | 14 | Yes | 0 | 199 |
1:116387415-116387415 | COSM1717741 | ATP1A1 | ENST00000295598 | p.L104R | c.311T>G | No | 99999 | Yes | 0 | No | 17 | 30 |
1:120029949-120029949 | COSM1736165 | NOTCH2 | ENST00000256646 | p.E38K | c.112G>A | No | 99999 | No | 1611 | Yes | 0 | 20 |
1:36467833-36467833 | COSM1737962 | CSF3R | ENST00000373103 | p.T618I | c.1853C>T | No | 99999 | No | 8 | Yes | 0 | 17 |
17:21415775-21415775 | COSM1741566 | KCNJ12 | ENST00000331718 | p.G145S | c.433G>A | No | 99999 | Yes | 0 | No | 20 | 24 |
17:21415859-21415859 | COSM1741567 | KCNJ12 | ENST00000331718 | p.D173N | c.517G>A | No | 99999 | Yes | 0 | No | 5 | 25 |
11:48325806-48325806 | COSM1742580 | OR4C3 | ENST00000319856 | p.T289I | c.866C>T | No | 99999 | No | 2 | Yes | 0 | 25 |
11:48325811-48325811 | COSM1742581 | OR4C3 | ENST00000319856 | p.P291S | c.871C>T | No | 99999 | No | 4 | Yes | 0 | 26 |
3:30650380-30650380 | COSM1744957 | TGFBR2_ENST00000359013 | ENST00000359013 | p.K153fs*35 | c.449delA | No | 99999 | No | 39 | Yes | 0 | 32 |
1:155285296-155285296 | COSM1747795 | HCN3 | ENST00000368358 | p.S407R | c.1221C>G | No | 99999 | No | 291 | Yes | 0 | 11 |
6:32662178-32662178 | COSM1754727 | HLA-DQB1 | ENST00000399084 | p.S150S | c.450G>A | No | 99999 | No | 82 | Yes | 0 | 16 |
9:33385714-33385714 | COSM1756130 | AQP7 | ENST00000297988 | p.N226N | c.678C>T | No | 99999 | No | 1 | Yes | 0 | 11 |
9:33385742-33385742 | COSM1756131 | AQP7 | ENST00000297988 | p.L217H | c.650T>A | No | 99999 | Yes | 0 | No | 9 | 10 |
9:33386148-33386148 | COSM1756133 | AQP7 | ENST00000297988 | p.V152F | c.454G>T | No | 99999 | No | 14 | Yes | 0 | 18 |
12:11134198-11134198 | COSM1948731 | TAS2R30 | ENST00000539585 | p.I16T | c.47T>C | No | 99999 | Yes | 0 | No | 13 | 18 |
12:6667904-6667909 | COSM2098917 | AC125494.1_ENST00000407384 | ENST00000407384_v68 | p.L138_L139delLL | c.374_379delTGCTGC | No | 99999 | Yes | 0 | No | 19 | 10 |
12:6667904-6667909 | COSM2098918 | AC125494.1 | ENST00000407384 | p.L138_L139delLL | c.374_379delTGCTGC | No | 99999 | Yes | 0 | No | 19 | 10 |
1:147908084-147908084 | COSM2121846 | GJA8 | ENST00000369235 | p.F43F | c.129C>T | No | 99999 | Yes | 0 | No | 4 | 10 |
22:20142999-20142999 | COSM2892914 | ZDHHC8_ENST00000405930 | ENST00000405930 | p.T459fs*177 | c.1369delC | No | 99999 | No | 252 | Yes | 0 | 10 |
3:195780212-195780212 | COSM2944346 | MUC4_ENST00000463781 | ENST00000463781 | p.T3790A | c.11368A>G | No | 99999 | No | 1582 | Yes | 0 | 11 |
3:195780575-195780575 | COSM2944458 | MUC4_ENST00000463781 | ENST00000463781 | p.D3669N | c.11005G>A | No | 99999 | No | 1703 | Yes | 0 | 22 |
3:195781796-195781796 | COSM2944791 | MUC4_ENST00000463781 | ENST00000463781 | p.T3262A | c.9784A>G | No | 99999 | No | 2110 | Yes | 0 | 16 |
3:195781799-195781799 | COSM2944792 | MUC4_ENST00000463781 | ENST00000463781 | p.D3261H | c.9781G>C | No | 99999 | No | 2111 | Yes | 0 | 17 |
3:195786574-195786574 | COSM2946327 | MUC4_ENST00000463781 | ENST00000463781 | p.S1669N | c.5006G>A | No | 99999 | No | 3703 | Yes | 0 | 20 |
3:195786575-195786575 | COSM2946329 | MUC4_ENST00000463781 | ENST00000463781 | p.S1669G | c.5005A>G | No | 99999 | No | 3703 | Yes | 0 | 16 |
2:219224355-219224355 | COSM3044646 | ATG9A | ENST00000396761 | p.Y339S | c.1016A>C | No | 99999 | No | 27 | Yes | 0 | 10 |
2:46480746-46480746 | COSM3185672 | ENSG00000187600_ENST00000434431 | ENST00000434431 | p.Q153Q | c.459A>G | No | 99999 | No | 14 | Yes | 0 | 10 |
19:40880581-40880581 | COSM3226399 | CYP2A7 | ENST00000301146 | p.A131S | c.391G>T | No | 99999 | No | 107 | Yes | 0 | 21 |
6:31356825-31356825 | COSM3253072 | HLA-B | ENST00000412585 | p.E69A | c.206A>C | No | 99999 | No | 239 | Yes | 0 | 18 |
6:32581580-32581580 | COSM3348760 | HLA-DRB1 | ENST00000360004 | p.T210I | c.629C>T | No | 99999 | No | 18 | Yes | 0 | 11 |
23:2917954-2917954 | COSM3363959 | ARSD | ENST00000381154 | p.C238F | c.713G>T | No | 99999 | Yes | 0 | No | 10 | 10 |
23:2918006-2918006 | COSM3363960 | ARSD | ENST00000381154 | p.G221S | c.661G>A | No | 99999 | Yes | 0 | No | 5 | 11 |
6:32522058-32522058 | COSM3366462 | HLA-DRB5 | ENST00000374975 | p.V73L | c.217G>C | No | 99999 | No | 155 | Yes | 0 | 11 |
5:140835437-140835437 | COSM3428986 | PCDHA7 | ENST00000378125 | p.L352I | c.1054C>A | No | 99999 | No | 344 | Yes | 0 | 22 |
14:62987180-62987180 | COSM3496846 | KCNH5 | ENST00000322893 | p.T147T | c.441G>A | No | 99999 | No | 69 | Yes | 0 | 10 |
14:62987180-62987180 | COSM3496847 | KCNH5_ENST00000394968 | ENST00000394968 | p.T89T | c.267G>A | No | 99999 | No | 69 | Yes | 0 | 10 |
5:55964233-55964244 | COSM3666640 | IL6ST | ENST00000381298 | p.S187_Y190delSTVY | c.560_571del12 | No | 99999 | No | 433 | Yes | 0 | 17 |
3:195780523-195780523 | COSM3683064 | MUC4_ENST00000463781 | ENST00000463781 | p.T3686I | c.11057C>T | No | 99999 | No | 1686 | Yes | 0 | 12 |
8:11332082-11332082 | COSM3718698 | AMAC1L2 | ENST00000382435 | p.R326W | c.976C>T | No | 99999 | Yes | 0 | No | 16 | 26 |
6:29942911-29942911 | COSM3722055 | HLA-A | ENST00000396634 | p.I76M | c.228A>G | No | 99999 | No | 232 | Yes | 0 | 12 |
6:31357148-31357148 | COSM3722059 | HLA-B | ENST00000412585 | p.M4T | c.11T>C | No | 99999 | No | 304 | Yes | 0 | 20 |
6:31271133-31271133 | COSM3722061 | HLA-C | ENST00000376228 | p.T187P | c.559A>C | No | 99999 | No | 119 | Yes | 0 | 16 |
6:31271133-31271133 | COSM3722062 | HLA-C_ENST00000539307 | ENST00000539307 | p.T224P | c.670A>C | No | 99999 | No | 119 | Yes | 0 | 16 |
6:31271133-31271133 | COSM3722063 | HLA-C_ENST00000383329 | ENST00000383329 | p.T187P | c.559A>C | No | 99999 | No | 119 | Yes | 0 | 16 |
6:31271132-31271132 | COSM3722064 | HLA-C | ENST00000376228 | p.T187M | c.560C>T | No | 99999 | No | 119 | Yes | 0 | 15 |
6:31271132-31271132 | COSM3722065 | HLA-C_ENST00000539307 | ENST00000539307 | p.T224M | c.671C>T | No | 99999 | No | 119 | Yes | 0 | 15 |
6:31271132-31271132 | COSM3722066 | HLA-C_ENST00000383329 | ENST00000383329 | p.T187M | c.560C>T | No | 99999 | No | 119 | Yes | 0 | 15 |
6:32519517-32519517 | COSM3722068 | HLA-DRB5 | ENST00000374975 | p.A169T | c.505G>A | No | 99999 | No | 59 | Yes | 0 | 12 |
17:21416057-21416057 | COSM3722241 | KCNJ12 | ENST00000331718 | p.E239K | c.715G>A | No | 99999 | No | 62 | Yes | 0 | 25 |
3:195780043-195780043 | COSM3722629 | MUC4_ENST00000463781 | ENST00000463781 | p.P3846L | c.11537C>T | No | 99999 | No | 1526 | Yes | 0 | 20 |
1:116579662-116579663 | COSM3724417 | IGSF3_ENST00000369483 | ENST00000369483 | p.D1041_D1042insG | c.3123_3124insGGA | No | 99999 | No | 104 | Yes | 0 | 14 |
1:116579662-116579663 | COSM3724418 | IGSF3 | ENST00000369486 | p.D1021_D1022insG | c.3063_3064insGGA | No | 99999 | No | 104 | Yes | 0 | 14 |
10:27413326-27413327 | COSM3724428 | PTCHD3 | ENST00000438700 | p.S309fs*26 | c.924_925insG | No | 99999 | Yes | 0 | No | 9 | 13 |
19:51501536-51501537 | COSM3724438 | SIGLEC12 | ENST00000291707 | p.G67fs*49 | c.197_198insG | No | 99999 | No | 413 | Yes | 0 | 21 |
11:67997691-67997692 | COSM3724444 | UNC93B6 | ENST00000227471 | p.F296fs*41 | c.886_887insC | No | 99999 | Yes | 0 | No | 12 | 24 |
12:11091497-11091497 | COSM3727836 | TAS2R43 | ENST00000531678 | p.I245V | c.733A>G | No | 99999 | Yes | 0 | No | 9 | 17 |
1:110363805-110363805 | COSM3729860 | SLC16A4_ENST00000437429 | ENST00000437429 | p.L372fs*>11 | c.1115delT | No | 99999 | Yes | 0 | No | 20 | 14 |
22:42127503-42127503 | COSM3730229 | CYP2D6_ENST00000360608 | ENST00000360608 | p.G373S | c.1117G>A | No | 99999 | No | 349 | Yes | 0 | 11 |
22:42127503-42127503 | COSM3730230 | CYP2D6 | ENST00000359033 | p.G322S | c.964G>A | No | 99999 | No | 298 | Yes | 0 | 11 |
4:102905600-102905600 | COSM3733506 | NHEDC1 | ENST00000296422 | p.T416A | c.1246A>G | No | 99999 | Yes | 0 | No | 12 | 10 |
4:102905612-102905612 | COSM3733507 | NHEDC1 | ENST00000296422 | p.R412* | c.1234C>T | No | 99999 | Yes | 0 | No | 8 | 11 |
16:74413616-74413616 | COSM3733521 | CLEC18B | ENST00000339953 | p.T173A | c.517A>G | Yes | 0 | No | 99999 | No | 99999 | 17 |
6:29943451-29943451 | COSM3733674 | HLA-A | ENST00000396634 | p.E176V | c.527A>T | No | 99999 | No | 132 | Yes | 0 | 19 |
1:248273225-248273225 | COSM3733796 | OR2T33 | ENST00000318021 | p.M197R | c.590T>G | No | 99999 | No | 5 | Yes | 0 | 22 |
1:248650526-248650526 | COSM3733798 | OR2T27 | ENST00000344889 | p.Y120C | c.359A>G | No | 99999 | Yes | 0 | No | 23 | 27 |
6:32581812-32581812 | COSM3733801 | HLA-DRB1 | ENST00000360004 | p.S133A | c.397T>G | No | 99999 | No | 95 | Yes | 0 | 17 |
6:32581830-32581830 | COSM3733802 | HLA-DRB1 | ENST00000360004 | p.K127Q | c.379A>C | No | 99999 | No | 101 | Yes | 0 | 16 |
6:32642096-32642096 | COSM3733803 | HLA-DQA1 | ENST00000374949 | p.Q152H | c.456G>C | No | 99999 | No | 66 | Yes | 0 | 22 |
6:31356301-31356301 | COSM3733867 | HLA-B | ENST00000412585 | p.T162K | c.485C>A | No | 99999 | No | 146 | Yes | 0 | 16 |
6:32664917-32664917 | COSM3733870 | HLA-DQB1 | ENST00000399084 | p.R87P | c.260G>C | No | 99999 | No | 145 | Yes | 0 | 18 |
7:117548743-117548743 | COSM3734028 | CFTR | ENST00000003084 | p.T438A | c.1312A>G | No | 99999 | No | 112 | Yes | 0 | 17 |
20:1915243-1915243 | COSM3734049 | SIRPA_ENST00000400068 | ENST00000400068 | p.G75A | c.224G>C | No | 99999 | No | 297 | Yes | 0 | 19 |
5:141345829-141345829 | COSM3735696 | PCDHGA3_ENST00000253812 | ENST00000253812 | p.G599V | c.1796G>T | No | 99999 | No | 93 | Yes | 0 | 11 |
5:141345829-141345829 | COSM3735697 | PCDHGA3 | ENST00000253812 | p.G628V | c.1883G>T | No | 99999 | No | 93 | Yes | 0 | 11 |
2:88613755-88613755 | COSM3736267 | EIF2AK3_ENST00000303236 | ENST00000303236 | p.S136C | c.407C>G | No | 99999 | No | 107 | Yes | 0 | 10 |
2:88613755-88613755 | COSM3736268 | EIF2AK3 | ENST00000303236 | p.S136C | c.407C>G | No | 99999 | No | 107 | Yes | 0 | 10 |
21:33268483-33268483 | COSM3736284 | IL10RB | ENST00000290200 | p.K47E | c.139A>G | No | 99999 | No | 177 | Yes | 0 | 13 |
9:104858586-104858586 | COSM3736474 | ABCA1_ENST00000423487 | ENST00000423487 | p.R219K | c.656G>A | No | 99999 | No | 172 | Yes | 0 | 15 |
6:31271800-31271800 | COSM3745150 | HLA-C | ENST00000376228 | p.S48A | c.142T>G | No | 99999 | No | 258 | Yes | 0 | 21 |
6:31271800-31271800 | COSM3745151 | HLA-C_ENST00000539307 | ENST00000539307 | p.S85A | c.253T>G | No | 99999 | No | 258 | Yes | 0 | 21 |
6:31271800-31271800 | COSM3745152 | HLA-C_ENST00000383329 | ENST00000383329 | p.S48A | c.142T>G | No | 99999 | No | 258 | Yes | 0 | 22 |
9:33385830-33385830 | COSM3745968 | AQP7_ENST00000539936 | ENST00000539936 | p.A188T | c.562G>A | No | 99999 | Yes | 0 | No | 3 | 25 |
9:33385830-33385830 | COSM3745969 | AQP7_ENST00000379503 | ENST00000379503 | p.A124T | c.370G>A | No | 99999 | No | 15 | Yes | 0 | 25 |
11:26697185-26697185 | COSM3746241 | SLC5A12 | ENST00000396005 | p.C340F | c.1019G>T | No | 99999 | Yes | 0 | No | 23 | 27 |
11:26697185-26697185 | COSM3746242 | SLC5A12_ENST00000280467 | ENST00000280467 | p.C340F | c.1019G>T | No | 99999 | Yes | 0 | No | 23 | 27 |
11:65130692-65130692 | COSM3746252 | SYVN1 | ENST00000377190 | p.H358P | c.1073A>C | No | 99999 | No | 123 | Yes | 0 | 13 |
12:11031194-11031194 | COSM3746271 | TAS2R31 | ENST00000390675 | p.L48V | c.142C>G | No | 99999 | Yes | 0 | No | 23 | 22 |
12:42119028-42119028 | COSM3746293 | GXYLT1 | ENST00000398675 | p.D153V | c.458A>T | No | 99999 | No | 124 | Yes | 0 | 28 |
12:42119028-42119028 | COSM3746294 | Q8IXV1_HUMAN | ENST00000280876 | p.D122V | c.365A>T | No | 99999 | No | 93 | Yes | 0 | 28 |
12:42119042-42119042 | COSM3746295 | GXYLT1 | ENST00000398675 | p.H148Q | c.444T>G | No | 99999 | No | 119 | Yes | 0 | 26 |
12:42119042-42119042 | COSM3746296 | Q8IXV1_HUMAN | ENST00000280876 | p.H117Q | c.351T>G | No | 99999 | No | 88 | Yes | 0 | 26 |
19:1004964-1004964 | COSM3746473 | GRIN3B | ENST00000234389 | p.A488G | c.1463C>G | No | 99999 | No | 87 | Yes | 0 | 11 |
19:40880622-40880622 | COSM3746495 | CYP2A7_ENST00000291764 | ENST00000291764 | p.A66V | c.197C>T | No | 99999 | No | 42 | Yes | 0 | 25 |
20:1915338-1915338 | COSM3746555 | SIRPA | ENST00000356025 | p.R107S | c.319C>A | No | 99999 | No | 265 | Yes | 0 | 15 |
20:1915338-1915338 | COSM3746556 | SIRPA_ENST00000400068 | ENST00000400068 | p.R107S | c.319C>A | No | 99999 | No | 265 | Yes | 0 | 15 |
20:1915344-1915344 | COSM3746557 | SIRPA | ENST00000356025 | p.G109S | c.325G>A | No | 99999 | No | 263 | Yes | 0 | 17 |
20:1915344-1915344 | COSM3746558 | SIRPA_ENST00000400068 | ENST00000400068 | p.G109S | c.325G>A | No | 99999 | No | 263 | Yes | 0 | 17 |
3:195788530-195788530 | COSM3746628 | MUC4_ENST00000463781 | ENST00000463781 | p.V1017E | c.3050T>A | No | 99999 | No | 4355 | Yes | 0 | 20 |
3:50338000-50338000 | COSM3746636 | RASSF1 | ENST00000357043 | p.T92P | c.274A>C | Yes | 0 | No | 99999 | No | 99999 | 27 |
1:247921325-247921325 | COSM3746899 | OR2T8 | ENST00000319968 | p.P103L | c.308C>T | No | 99999 | Yes | 0 | No | 8 | 26 |
1:248273309-248273309 | COSM3746901 | OR2T33 | ENST00000318021 | p.A169V | c.506C>T | No | 99999 | No | 9 | Yes | 0 | 24 |
1:248573866-248573866 | COSM3746904 | OR2T34 | ENST00000328782 | p.R298C | c.892C>T | No | 99999 | Yes | 0 | No | 20 | 16 |
1:248650751-248650751 | COSM3746906 | OR2T27 | ENST00000344889 | p.K45M | c.134A>T | No | 99999 | Yes | 0 | No | 20 | 26 |
6:32581834-32581834 | COSM3747670 | HLA-DRB1 | ENST00000360004 | p.Q125H | c.375A>T | No | 99999 | No | 103 | Yes | 0 | 16 |
6:48068591-48068591 | COSM3747690 | C6orf138 | ENST00000339488 | p.V22G | c.65T>G | No | 99999 | No | 208 | Yes | 0 | 21 |
7:100631012-100631012 | COSM3747695 | TFR2 | ENST00000223051 | p.S383G | c.1147A>G | No | 99999 | No | 279 | Yes | 0 | 27 |
9:33385752-33385752 | COSM3747758 | AQP7_ENST00000539936 | ENST00000539936 | p.G214R | c.640G>A | No | 99999 | Yes | 0 | No | 12 | 12 |
9:33385752-33385752 | COSM3747759 | AQP7_ENST00000379503 | ENST00000379503 | p.G150R | c.448G>A | No | 99999 | Yes | 0 | No | 12 | 12 |
1:152515503-152515503 | COSM3748996 | CRCT1 | ENST00000368790 | p.C40C | c.120C>T | Yes | 0 | No | 99999 | No | 99999 | 14 |
1:28812463-28812463 | COSM3749049 | OPRD1 | ENST00000234961 | p.C27F | c.80G>T | No | 99999 | No | 21 | Yes | 0 | 25 |
10:118594398-118594398 | COSM3749082 | PRLHR | ENST00000369169 | p.I283V | c.847A>G | No | 99999 | Yes | 0 | No | 18 | 13 |
10:84237494-84237494 | COSM3749120 | LRIT1 | ENST00000372105 | p.G105G | c.315C>T | No | 99999 | No | 425 | Yes | 0 | 12 |
11:61891328-61891328 | COSM3749168 | FADS3 | ENST00000278829 | p.A18A | c.54G>A | No | 99999 | No | 129 | Yes | 0 | 22 |
11:61891328-61891328 | COSM3749169 | FADS3_ENST00000540820 | ENST00000540820 | p.A18A | c.54G>A | No | 99999 | No | 129 | Yes | 0 | 14 |
11:66042738-66042738 | COSM3749181 | GAL3ST3 | ENST00000312006 | p.P355P | c.1065G>A | No | 99999 | No | 312 | Yes | 0 | 13 |
12:94650385-94650385 | COSM3749233 | TMCC3 | ENST00000261226 | p.Y16D | c.46T>G | No | 99999 | No | 399 | Yes | 0 | 14 |
14:61280926-61280926 | COSM3749279 | TMEM30B | ENST00000355702 | p.G74G | c.222T>C | No | 99999 | No | 23 | Yes | 0 | 13 |
15:65982352-65982352 | COSM3749305 | MEGF11_ENST00000409699 | ENST00000409699 | p.A177A | c.531A>G | No | 99999 | No | 672 | Yes | 0 | 17 |
15:65982352-65982352 | COSM3749306 | MEGF11 | ENST00000395625 | p.A102A | c.306A>G | No | 99999 | No | 672 | Yes | 0 | 17 |
16:1220349-1220349 | COSM3749326 | CACNA1H_ENST00000348261 | ENST00000348261 | p.D2139D | c.6417T>C | No | 99999 | No | 289 | Yes | 0 | 11 |
16:1220349-1220349 | COSM3749327 | CACNA1H_ENST00000358590 | ENST00000358590 | p.D2133D | c.6399T>C | No | 99999 | No | 289 | Yes | 0 | 11 |
16:1220349-1220349 | COSM3749328 | CACNA1H | ENST00000358590 | p.D2133D | c.6399T>C | No | 99999 | No | 289 | Yes | 0 | 11 |
17:4790047-4790047 | COSM3749405 | GLTPD2 | ENST00000331264 | p.D209E | c.627C>A | No | 99999 | No | 177 | Yes | 0 | 15 |
17:8393122-8393122 | COSM3749429 | RNF222 | ENST00000344001 | p.P114S | c.340C>T | No | 99999 | No | 80 | Yes | 0 | 24 |
19:1004711-1004711 | COSM3749445 | GRIN3B | ENST00000234389 | p.R404W | c.1210C>T | No | 99999 | No | 171 | Yes | 0 | 23 |
19:1065019-1065019 | COSM3749452 | ABCA7 | ENST00000263094 | p.A2045S | c.6133G>T | No | 99999 | No | 294 | Yes | 0 | 18 |
19:1789557-1789557 | COSM3749489 | ATP8B3_ENST00000525591 | ENST00000525591 | p.Q846Q | c.2538G>A | No | 99999 | No | 144 | Yes | 0 | 13 |
19:1789557-1789557 | COSM3749490 | ATP8B3 | ENST00000539485 | p.Q893Q | c.2679G>A | No | 99999 | No | 144 | Yes | 0 | 13 |
19:6737498-6737498 | COSM3749573 | GPR108 | ENST00000264080 | p.L27L | c.79C>T | No | 99999 | No | 236 | Yes | 0 | 21 |
2:11669969-11669969 | COSM3749589 | NTSR2 | ENST00000306928 | p.A54V | c.161C>T | No | 99999 | Yes | 0 | No | 20 | 25 |
2:42048679-42048679 | COSM3749664 | SgK493 | ENST00000294964 | p.G160G | c.480T>C | No | 99999 | No | 131 | Yes | 0 | 17 |
2:97995531-97995531 | COSM3749691 | TMEM131_ENST00000186436 | ENST00000186436 | p.G44G | c.132C>A | No | 99999 | No | 1039 | Yes | 0 | 30 |
22:50178227-50178227 | COSM3749774 | PANX2_ENST00000395842 | ENST00000395842 | p.P505P | c.1515T>C | No | 99999 | No | 190 | Yes | 0 | 11 |
22:50178227-50178227 | COSM3749775 | PANX2 | ENST00000159647 | p.P505P | c.1515T>C | No | 99999 | No | 190 | Yes | 0 | 11 |
22:50178377-50178377 | COSM3749776 | PANX2_ENST00000395842 | ENST00000395842 | p.L555L | c.1665A>G | No | 99999 | No | 240 | Yes | 0 | 10 |
22:50178377-50178377 | COSM3749777 | PANX2 | ENST00000159647 | p.L555L | c.1665A>G | No | 99999 | No | 240 | Yes | 0 | 10 |
3:125013575-125013575 | COSM3749804 | HEG1 | ENST00000311127 | p.S668S | c.2004T>C | No | 99999 | No | 580 | Yes | 0 | 11 |
3:195791241-195791241 | COSM3749828 | MUC4_ENST00000463781 | ENST00000463781 | p.T113T | c.339A>T | No | 99999 | No | 5259 | Yes | 0 | 15 |
4:39446909-39446909 | COSM3749875 | KLB | ENST00000257408 | p.R728Q | c.2183G>A | No | 99999 | No | 269 | Yes | 0 | 10 |
6:160348779-160348779 | COSM3749960 | SLC22A3 | ENST00000275300 | p.R120R | c.360C>T | No | 99999 | No | 36 | Yes | 0 | 11 |
6:53652078-53652078 | COSM3749983 | KLHL31 | ENST00000370905 | p.I475I | c.1425A>C | No | 99999 | No | 320 | Yes | 0 | 10 |
7:150801721-150801721 | COSM3750011 | TMEM176A | ENST00000004103 | p.S57S | c.171G>A | No | 99999 | Yes | 0 | No | 19 | 10 |
8:142727533-142727533 | COSM3750066 | C8orf55 | ENST00000336138 | p.L63L | c.187C>T | No | 99999 | No | 39 | Yes | 0 | 15 |
8:142727775-142727775 | COSM3750067 | C8orf55 | ENST00000336138 | p.G143G | c.429C>T | No | 99999 | No | 119 | Yes | 0 | 15 |
9:124453065-124453065 | COSM3750151 | GPR144 | ENST00000334810 | p.D123G | c.368A>G | No | 99999 | No | 537 | Yes | 0 | 19 |
1:152515587-152515587 | COSM3750360 | CRCT1 | ENST00000368790 | p.R68R | c.204C>T | Yes | 0 | No | 99999 | No | 99999 | 10 |
1:155192276-155192276 | COSM3750407 | MUC1 | ENST00000337604 | p.T22T | c.66G>A | No | 99999 | Yes | 0 | No | 8 | 19 |
1:155192276-155192276 | COSM3750408 | MUC1_ENST00000368392 | ENST00000368392 | p.T31T | c.93G>A | No | 99999 | No | 137 | Yes | 0 | 19 |
1:160092682-160092682 | COSM3750505 | IGSF8 | ENST00000368086 | p.E442E | c.1326G>A | No | 99999 | No | 138 | Yes | 0 | 10 |
1:161548424-161548424 | COSM3750531 | FCGR3A | ENST00000367969 | p.I142V | c.424A>G | No | 99999 | No | 101 | Yes | 0 | 14 |
1:161548546-161548546 | COSM3750532 | FCGR3A | ENST00000367969 | p.S101N | c.302G>A | No | 99999 | No | 142 | Yes | 0 | 12 |
1:248362028-248362028 | COSM3751107 | OR2T4 | ENST00000366475 | p.M150V | c.448A>G | No | 99999 | Yes | 0 | No | 21 | 11 |
10:103473353-103473353 | COSM3751507 | CALHM3_ENST00000369783 | ENST00000369783 | p.D299N | c.895G>A | No | 99999 | No | 101 | Yes | 0 | 25 |
10:103473353-103473353 | COSM3751508 | CALHM3 | ENST00000369783 | p.D299N | c.895G>A | No | 99999 | No | 101 | Yes | 0 | 25 |
11:61008714-61008714 | COSM3752545 | CD6 | ENST00000313421 | p.T217M | c.650C>T | Yes | 0 | No | 185 | Yes | 0 | 13 |
11:61008714-61008714 | COSM3752546 | CD6_ENST00000313421 | ENST00000313421 | p.T217M | c.650C>T | Yes | 0 | No | 185 | Yes | 0 | 13 |
12:10420495-10420495 | COSM3752863 | KLRC3 | ENST00000381903 | p.W19S | c.56G>C | No | 99999 | No | 56 | Yes | 0 | 21 |
12:10420495-10420495 | COSM3752864 | KLRC3_ENST00000381904 | ENST00000381904 | p.W19S | c.56G>C | No | 99999 | No | 56 | Yes | 0 | 21 |
12:10435931-10435931 | COSM3752865 | KLRC2_ENST00000381901 | ENST00000381901 | p.R19P | c.56G>C | No | 99999 | No | 56 | Yes | 0 | 21 |
12:10435982-10435982 | COSM3752866 | KLRC2 | ENST00000381902 | p.N2S | c.5A>G | No | 99999 | No | 73 | Yes | 0 | 23 |
12:10435982-10435982 | COSM3752867 | KLRC2_ENST00000381901 | ENST00000381901 | p.N2S | c.5A>G | No | 99999 | No | 73 | Yes | 0 | 22 |
12:125652514-125652514 | COSM3753033 | TMEM132B | ENST00000299308 | p.A658V | c.1973C>T | No | 99999 | No | 242 | Yes | 0 | 12 |
12:27763291-27763291 | COSM3753158 | MANSC4 | ENST00000381273 | p.L157S | c.470T>C | No | 99999 | No | 129 | Yes | 0 | 12 |
12:27763291-27763291 | COSM3753159 | MANSC4_ENST00000381273 | ENST00000381273 | p.L157S | c.470T>C | No | 99999 | No | 129 | Yes | 0 | 12 |
14:70457849-70457849 | COSM3754073 | ADAM21 | ENST00000267499 | p.A117G | c.350C>G | No | 99999 | No | 88 | Yes | 0 | 14 |
15:22094704-22094704 | COSM3754239 | OR4N4 | ENST00000328795 | p.L61F | c.183A>C | No | 99999 | Yes | 0 | No | 18 | 15 |
15:22094870-22094870 | COSM3754240 | OR4N4 | ENST00000328795 | p.V117L | c.349G>C | No | 99999 | Yes | 0 | No | 20 | 14 |
15:22094877-22094877 | COSM3754241 | OR4N4 | ENST00000328795 | p.A119D | c.356C>A | No | 99999 | Yes | 0 | No | 22 | 12 |
15:29126371-29126371 | COSM3754260 | FAM189A1 | ENST00000261275 | p.H375R | c.1124A>G | No | 99999 | No | 177 | Yes | 0 | 24 |
15:78601997-78601997 | COSM3754495 | CHRNA3 | ENST00000326828 | p.Y215Y | c.645C>T | No | 99999 | No | 28 | Yes | 0 | 16 |
16:69954569-69954569 | COSM3755017 | CLEC18A | ENST00000288040 | p.T151M | c.452C>T | Yes | 0 | No | 99999 | No | 99999 | 11 |
17:21416631-21416631 | COSM3755340 | KCNJ12 | ENST00000331718 | p.E430G | c.1289A>G | No | 99999 | No | 253 | Yes | 0 | 27 |
17:7482771-7482771 | COSM3755867 | POLR2A_ENST00000412468 | ENST00000412468 | p.A263T | c.787G>A | No | 99999 | Yes | 0 | No | 14 | 10 |
19:1005231-1005231 | COSM3756243 | GRIN3B | ENST00000234389 | p.T577M | c.1730C>T | No | 99999 | Yes | 0 | No | 3 | 15 |
19:40880589-40880589 | COSM3756812 | CYP2A7_ENST00000291764 | ENST00000291764 | p.L77R | c.230T>G | No | 99999 | No | 53 | Yes | 0 | 22 |
19:51340554-51340554 | COSM3757095 | VSIG10L | ENST00000335624 | p.M356I | c.1068G>A | No | 99999 | No | 421 | Yes | 0 | 10 |
19:51340554-51340554 | COSM3757096 | VSIG10L_ENST00000335624 | ENST00000335624 | p.M356I | c.1068G>A | No | 99999 | No | 421 | Yes | 0 | 10 |
19:54747356-54747356 | COSM3757203 | KIR2DL3 | ENST00000342376 | p.P229L | c.686C>T | No | 99999 | No | 14 | Yes | 0 | 10 |
19:5867166-5867166 | COSM3757354 | FUT5 | ENST00000252675 | p.P187L | c.560C>T | No | 99999 | No | 153 | Yes | 0 | 12 |
19:6737470-6737470 | COSM3757397 | GPR108 | ENST00000264080 | p.Q36R | c.107A>G | No | 99999 | No | 227 | Yes | 0 | 14 |
2:102339008-102339008 | COSM3757545 | IL1RL1_ENST00000233954 | ENST00000233954 | p.A78E | c.233C>A | No | 99999 | No | 250 | Yes | 0 | 13 |
2:140501714-140501714 | COSM3757650 | LRP1B | ENST00000389484 | p.D2941D | c.8823C>T | No | 99999 | No | 1504 | Yes | 0 | 10 |
2:140501807-140501807 | COSM3757651 | LRP1B | ENST00000389484 | p.C2910C | c.8730C>T | No | 99999 | No | 1535 | Yes | 0 | 14 |
2:140950299-140950299 | COSM3757654 | LRP1B | ENST00000389484 | p.A1024A | c.3072C>A | No | 99999 | No | 3421 | Yes | 0 | 12 |
2:169294161-169294161 | COSM3757758 | LRP2 | ENST00000263816 | p.D213D | c.639C>T | No | 99999 | No | 4211 | Yes | 0 | 13 |
2:205727971-205727971 | COSM3757900 | NRP2 | ENST00000360409 | p.Y357Y | c.1071T>C | No | 99999 | No | 511 | Yes | 0 | 21 |
2:205727971-205727971 | COSM3757901 | NRP2_ENST00000272849 | ENST00000272849 | p.Y357Y | c.1071T>C | No | 99999 | No | 480 | Yes | 0 | 21 |
2:205727971-205727971 | COSM3757902 | NRP2_ENST00000540841 | ENST00000540841 | p.Y357Y | c.1071T>C | No | 99999 | No | 489 | Yes | 0 | 21 |
2:233682324-233682324 | COSM3758046 | UGT1A7 | ENST00000373426 | p.N129K | c.387T>G | No | 99999 | No | 359 | Yes | 0 | 22 |
2:233682329-233682329 | COSM3758048 | UGT1A7 | ENST00000373426 | p.R131Q | c.392G>A | No | 99999 | No | 357 | Yes | 0 | 22 |
2:240029895-240029895 | COSM3758101 | OR6B2 | ENST00000402971 | p.C179R | c.535T>C | No | 99999 | No | 22 | Yes | 0 | 14 |
2:61162602-61162602 | COSM3758294 | C2orf74 | ENST00000432605 | p.Y37D | c.109T>G | No | 99999 | Yes | 0 | No | 23 | 15 |
2:61162602-61162602 | COSM3758295 | C2orf74_ENST00000432605 | ENST00000432605_v68 | p.Y37D | c.109T>G | No | 99999 | Yes | 0 | No | 23 | 15 |
2:85553413-85553413 | COSM3758394 | GGCX | ENST00000233838 | p.R325Q | c.974G>A | No | 99999 | No | 25 | Yes | 0 | 12 |
20:1611638-1611638 | COSM3758450 | SIRPB1_ENST00000279477 | ENST00000279477 | p.T51I | c.152C>T | No | 99999 | No | 321 | Yes | 0 | 15 |
20:1611666-1611666 | COSM3758451 | SIRPB1_ENST00000279477 | ENST00000279477 | p.I42V | c.124A>G | No | 99999 | No | 330 | Yes | 0 | 16 |
21:41480570-41480570 | COSM3758884 | TMPRSS2_ENST00000398585 | ENST00000398585 | p.V197M | c.589G>A | Yes | 0 | No | 54 | Yes | 0 | 23 |
21:41480570-41480570 | COSM3758885 | TMPRSS2_ENST00000454499 | ENST00000454499 | p.V160M | c.478G>A | Yes | 0 | No | 54 | Yes | 0 | 23 |
22:29225139-29225139 | COSM3759106 | EMID1 | ENST00000334018 | p.A109G | c.326C>G | No | 99999 | No | 80 | Yes | 0 | 12 |
3:194398145-194398145 | COSM3759957 | GP5_ENST00000323007 | ENST00000323007 | p.L46L | c.138A>G | No | 99999 | No | 476 | Yes | 0 | 10 |
3:195778895-195778895 | COSM3759977 | MUC4_ENST00000463781 | ENST00000463781 | p.S4229G | c.12685A>G | No | 99999 | No | 1143 | Yes | 0 | 12 |
3:195780284-195780284 | COSM3759982 | MUC4_ENST00000463781 | ENST00000463781 | p.A3766T | c.11296G>A | No | 99999 | No | 1606 | Yes | 0 | 15 |
3:46408579-46408579 | COSM3760122 | CCRL2 | ENST00000399036 | p.F167Y | c.500T>A | No | 99999 | Yes | 0 | No | 3 | 11 |
5:141123655-141123655 | COSM3760980 | PCDHB4 | ENST00000194152 | p.T553A | c.1657A>G | No | 99999 | No | 135 | Yes | 0 | 10 |
5:141179739-141179739 | COSM3760987 | PCDHB8 | ENST00000239444 | p.G569S | c.1705G>A | No | 99999 | No | 123 | Yes | 0 | 16 |
6:29942939-29942939 | COSM3761769 | HLA-A | ENST00000396634 | p.Q86E | c.256C>G | No | 99999 | No | 222 | Yes | 0 | 17 |
6:29942948-29942948 | COSM3761772 | HLA-A | ENST00000396634 | p.R89G | c.265C>G | No | 99999 | No | 219 | Yes | 0 | 10 |
6:29944331-29944331 | COSM3761775 | HLA-A | ENST00000396634 | p.E277Q | c.829G>C | No | 99999 | No | 31 | Yes | 0 | 30 |
6:29944370-29944370 | COSM3761776 | HLA-A | ENST00000396634 | p.L290L | c.868C>T | No | 99999 | No | 18 | Yes | 0 | 13 |
6:29944556-29944556 | COSM3761777 | HLA-A | ENST00000396634 | p.L318F | c.952C>T | No | 99999 | Yes | 0 | No | 11 | 16 |
6:30897052-30897052 | COSM3761813 | DDR1_ENST00000361741 | ENST00000361741 | p.V303V | c.909T>C | No | 99999 | No | 133 | Yes | 0 | 11 |
6:31271229-31271229 | COSM3761852 | HLA-C_ENST00000539307 | ENST00000539307 | p.R192S | c.574C>A | No | 99999 | No | 151 | Yes | 0 | 17 |
6:31271229-31271229 | COSM3761853 | HLA-C_ENST00000383329 | ENST00000383329 | p.R155S | c.463C>A | No | 99999 | No | 151 | Yes | 0 | 18 |
6:31271283-31271283 | COSM3761856 | HLA-C_ENST00000383329 | ENST00000383329 | p.Y137H | c.409T>C | No | 99999 | No | 169 | Yes | 0 | 10 |
6:31356247-31356247 | COSM3761864 | HLA-B | ENST00000412585 | p.R180L | c.539G>T | No | 99999 | No | 128 | Yes | 0 | 25 |
6:31411332-31411332 | COSM3761874 | MICA | ENST00000364810 | p.E196K | c.586G>A | No | 99999 | No | 111 | Yes | 0 | 10 |
6:31412030-31412030 | COSM3761877 | MICA | ENST00000364810 | p.R233W | c.697C>T | No | 99999 | No | 74 | Yes | 0 | 10 |
6:31412040-31412040 | COSM3761878 | MICA | ENST00000364810 | p.I236T | c.707T>C | No | 99999 | No | 71 | Yes | 0 | 20 |
6:31412154-31412154 | COSM3761880 | MICA | ENST00000364810 | p.R274Q | c.821G>A | No | 99999 | No | 33 | Yes | 0 | 20 |
6:32530137-32530137 | COSM3761938 | HLA-DRB5 | ENST00000374975 | p.G30R | c.88G>A | No | 99999 | No | 198 | Yes | 0 | 13 |
6:32581763-32581763 | COSM3761940 | HLA-DRB1 | ENST00000360004 | p.S149N | c.446G>A | No | 99999 | No | 79 | Yes | 0 | 13 |
6:32642710-32642710 | COSM3761946 | HLA-DQA1 | ENST00000374949 | p.F238L | c.714C>G | No | 99999 | Yes | 0 | No | 21 | 14 |
6:32759026-32759026 | COSM3761955 | HLA-DQB2 | ENST00000411527 | p.R157Q | c.470G>A | No | 99999 | No | 131 | Yes | 0 | 23 |
7:1091775-1091775 | COSM3762333 | GPER | ENST00000397088 | p.P16L | c.47C>T | No | 99999 | No | 47 | Yes | 0 | 13 |
8:37841677-37841677 | COSM3763331 | GPR124 | ENST00000412232 | p.G1113G | c.3339C>G | No | 99999 | No | 46 | Yes | 0 | 12 |
9:137048977-137048977 | COSM3763809 | ENTPD2 | ENST00000355097 | p.D416D | c.1248C>T | No | 99999 | No | 45 | Yes | 0 | 11 |
9:41964577-41964577 | COSM3763948 | CNTNAP3B | ENST00000377564 | p.C573G | c.1717T>G | No | 99999 | No | 671 | Yes | 0 | 17 |
3:195784772-195784772 | COSM3765074 | MUC4_ENST00000463781 | ENST00000463781 | p.A2270T | c.6808G>A | No | 99999 | No | 3102 | Yes | 0 | 14 |
12:11091314-11091314 | COSM3765614 | TAS2R43 | ENST00000531678 | p.T306P | c.916A>C | No | 99999 | No | 53 | Yes | 0 | 12 |
16:69959006-69959006 | COSM3765923 | CLEC18A | ENST00000288040 | p.A174V | c.521C>T | Yes | 0 | No | 99999 | No | 99999 | 11 |
17:21415896-21415896 | COSM3766042 | KCNJ12 | ENST00000331718 | p.A185V | c.554C>T | No | 99999 | No | 8 | Yes | 0 | 25 |
2:120222852-120222852 | COSM3766505 | TMEM185B_ENST00000426077 | ENST00000426077 | p.A42G | c.125C>G | No | 99999 | No | 5 | Yes | 0 | 20 |
1:120029924-120029924 | COSM3773408 | NOTCH2 | ENST00000256646 | p.N46S | c.137A>G | No | 99999 | No | 1603 | Yes | 0 | 22 |
1:248559370-248559370 | COSM3773485 | OR2T29 | ENST00000328570 | p.K41M | c.122A>T | No | 99999 | Yes | 0 | No | 13 | 17 |
14:70457980-70457980 | COSM3773708 | ADAM21 | ENST00000267499 | p.I161V | c.481A>G | No | 99999 | No | 132 | Yes | 0 | 12 |
23:119469901-119469901 | COSM3774018 | SLC25A5 | ENST00000317881 | p.A118T | c.352G>A | No | 99999 | Yes | 0 | No | 10 | 17 |
3:195778917-195778917 | COSM3774057 | MUC4_ENST00000463781 | ENST00000463781 | p.H4221Q | c.12663C>G | No | 99999 | No | 1151 | Yes | 0 | 15 |
3:195781628-195781628 | COSM3774078 | MUC4_ENST00000463781 | ENST00000463781 | p.A3318T | c.9952G>A | No | 99999 | No | 2054 | Yes | 0 | 17 |
3:195782572-195782572 | COSM3774079 | MUC4_ENST00000463781 | ENST00000463781 | p.I3003T | c.9008T>C | No | 99999 | No | 2369 | Yes | 0 | 21 |
3:195782924-195782924 | COSM3774081 | MUC4_ENST00000463781 | ENST00000463781 | p.A2886T | c.8656G>A | No | 99999 | No | 2486 | Yes | 0 | 20 |
3:195783902-195783902 | COSM3774084 | MUC4_ENST00000463781 | ENST00000463781 | p.S2560P | c.7678T>C | No | 99999 | No | 2812 | Yes | 0 | 25 |
3:195785122-195785122 | COSM3774086 | MUC4_ENST00000463781 | ENST00000463781 | p.V2153A | c.6458T>C | No | 99999 | No | 3219 | Yes | 0 | 24 |
3:195785416-195785416 | COSM3774088 | MUC4_ENST00000463781 | ENST00000463781 | p.S2055F | c.6164C>T | No | 99999 | No | 3317 | Yes | 0 | 19 |
3:195788542-195788542 | COSM3774097 | MUC4_ENST00000463781 | ENST00000463781 | p.S1013N | c.3038G>A | No | 99999 | No | 4359 | Yes | 0 | 29 |
6:167315286-167315286 | COSM3774191 | UNC93A | ENST00000230256 | p.M403T | c.1208T>C | No | 99999 | Yes | 0 | No | 4 | 22 |
6:31355425-31355425 | COSM3774224 | HLA-B | ENST00000412585 | p.R263G | c.787A>G | No | 99999 | No | 45 | Yes | 0 | 14 |
6:32522048-32522048 | COSM3774240 | HLA-DRB5 | ENST00000374975 | p.Y76F | c.227A>T | No | 99999 | No | 152 | Yes | 0 | 12 |
6:32530128-32530128 | COSM3774242 | HLA-DRB5 | ENST00000374975 | p.R33* | c.97C>T | No | 99999 | No | 195 | Yes | 0 | 12 |
6:32584180-32584180 | COSM3774243 | HLA-DRB1 | ENST00000360004 | p.A100G | c.299C>G | No | 99999 | No | 128 | Yes | 0 | 13 |
6:32584262-32584262 | COSM3774245 | HLA-DRB1 | ENST00000360004 | p.V73M | c.217G>A | No | 99999 | No | 155 | Yes | 0 | 14 |
6:32584271-32584271 | COSM3774246 | HLA-DRB1 | ENST00000360004 | p.D70N | c.208G>A | No | 99999 | No | 158 | Yes | 0 | 12 |
6:32666529-32666529 | COSM3774258 | HLA-DQB1 | ENST00000399084 | p.S27T | c.79T>A | No | 99999 | No | 205 | Yes | 0 | 22 |
7:67238341-67238341 | COSM3774294 | TYW1 | ENST00000359626 | p.D671N | c.2011G>A | No | 99999 | No | 629 | Yes | 0 | 12 |
9:122724438-122724438 | COSM3774353 | OR1L4 | ENST00000259466 | p.C150Y | c.449G>A | No | 99999 | No | 41 | Yes | 0 | 13 |
9:33386467-33386467 | COSM3774368 | AQP7_ENST00000539936 | ENST00000539936 | p.Y115H | c.343T>C | No | 99999 | Yes | 0 | No | 20 | 27 |
9:33386467-33386467 | COSM3774369 | AQP7_ENST00000379503 | ENST00000379503 | p.Y51H | c.151T>C | No | 99999 | Yes | 0 | No | 4 | 27 |
20:1611569-1611569 | COSM3783459 | SIRPB1_ENST00000279477 | ENST00000279477 | p.G74A | c.221G>C | No | 99999 | No | 298 | Yes | 0 | 15 |
2:140868259-140868259 | COSM3798012 | LRP1B | ENST00000389484 | p.L1392F | c.4174C>T | No | 99999 | No | 3053 | Yes | 0 | 27 |
1:161629781-161629781 | COSM3802584 | FCGR3B | ENST00000294800 | p.I106V | c.316A>G | No | 99999 | No | 101 | Yes | 0 | 12 |
1:1734812-1734812 | COSM3802701 | SLC35E2 | ENST00000246421 | p.R204W | c.610C>T | No | 99999 | No | 40 | Yes | 0 | 18 |
1:247921607-247921607 | COSM3804710 | OR2T8 | ENST00000319968 | p.M197R | c.590T>G | No | 99999 | No | 5 | Yes | 0 | 30 |
1:248473814-248473814 | COSM3804738 | OR2T3 | ENST00000359594 | p.V155A | c.464T>C | No | 99999 | Yes | 0 | No | 13 | 14 |
1:248488874-248488874 | COSM3804741 | OR2T5 | ENST00000366473 | p.V96I | c.286G>A | No | 99999 | No | 6 | Yes | 0 | 11 |
12:11092088-11092088 | COSM3811038 | TAS2R43 | ENST00000531678 | p.L48V | c.142C>G | No | 99999 | Yes | 0 | No | 23 | 21 |
12:11092088-11092088 | COSM3811039 | TAS2R46_ENST00000422992 | ENST00000422992 | p.L48V | c.142C>G | No | 99999 | Yes | 0 | No | 23 | 21 |
12:122715980-122715980 | COSM3811333 | HCAR3_ENST00000528880 | ENST00000528880 | p.H253R | c.758A>G | No | 99999 | Yes | 0 | No | 3 | 16 |
12:122715980-122715980 | COSM3811334 | HCAR3 | ENST00000528880 | p.H253R | c.758A>G | No | 99999 | Yes | 0 | No | 3 | 16 |
12:122715980-122715980 | COSM3811335 | GPR109B | ENST00000528880 | p.H253R | c.758A>G | No | 99999 | Yes | 0 | No | 3 | 16 |
12:42105912-42105912 | COSM3811990 | GXYLT1 | ENST00000398675 | p.N257S | c.770A>G | No | 99999 | No | 228 | Yes | 0 | 19 |
12:42105912-42105912 | COSM3811991 | Q8IXV1_HUMAN | ENST00000280876 | p.N226S | c.677A>G | No | 99999 | No | 197 | Yes | 0 | 19 |
15:22094777-22094777 | COSM3815729 | OR4N4 | ENST00000328795 | p.L86F | c.256C>T | No | 99999 | No | 8 | Yes | 0 | 13 |
17:3062979-3062979 | COSM3819247 | OR1D5 | ENST00000575751 | p.P210L | c.629C>T | No | 99999 | Yes | 0 | No | 11 | 14 |
17:3062979-3062979 | COSM3819248 | OR1D5_ENST00000575751 | ENST00000575751_v68 | p.P210L | c.629C>T | No | 99999 | Yes | 0 | No | 11 | 14 |
17:3420710-3420710 | COSM3819292 | OR3A3 | ENST00000291231 | p.T48I | c.143C>T | No | 99999 | Yes | 0 | No | 14 | 23 |
17:3420961-3420961 | COSM3819293 | OR3A3 | ENST00000291231 | p.L132F | c.394C>T | No | 99999 | Yes | 0 | No | 22 | 16 |
19:41090053-41090053 | COSM3823154 | CYP2A13 | ENST00000330436 | p.A117V | c.350C>T | No | 99999 | No | 93 | Yes | 0 | 12 |
5:141179951-141179951 | COSM3827069 | PCDHB8 | ENST00000239444 | p.Q639H | c.1917G>C | No | 99999 | No | 53 | Yes | 0 | 13 |
6:149942151-149942151 | COSM3829288 | ULBP2 | ENST00000367351 | p.R27G | c.79C>G | No | 99999 | No | 196 | Yes | 0 | 28 |
6:31271109-31271109 | COSM3830077 | HLA-C | ENST00000376228 | p.Y195H | c.583T>C | No | 99999 | No | 111 | Yes | 0 | 12 |
6:31271109-31271109 | COSM3830078 | HLA-C_ENST00000539307 | ENST00000539307 | p.Y232H | c.694T>C | No | 99999 | No | 111 | Yes | 0 | 12 |
6:31271109-31271109 | COSM3830079 | HLA-C_ENST00000383329 | ENST00000383329 | p.Y195H | c.583T>C | No | 99999 | No | 111 | Yes | 0 | 12 |
6:31356327-31356327 | COSM3830092 | HLA-B | ENST00000412585 | p.D153D | c.459C>T | No | 99999 | No | 155 | Yes | 0 | 13 |
6:32580855-32580855 | COSM3830217 | HLA-DRB1 | ENST00000360004 | p.R218S | c.654A>T | No | 99999 | No | 10 | Yes | 0 | 15 |
6:32581704-32581704 | COSM3830219 | HLA-DRB1 | ENST00000360004 | p.A169T | c.505G>A | No | 99999 | No | 59 | Yes | 0 | 16 |
6:32581748-32581748 | COSM3830220 | HLA-DRB1 | ENST00000360004 | p.G154A | c.461G>C | No | 99999 | No | 74 | Yes | 0 | 10 |
6:32581754-32581754 | COSM3830221 | HLA-DRB1 | ENST00000360004 | p.Y152C | c.455A>G | No | 99999 | No | 76 | Yes | 0 | 11 |
6:32662158-32662158 | COSM3830228 | HLA-DQB1 | ENST00000399084 | p.G157A | c.470G>C | No | 99999 | No | 75 | Yes | 0 | 20 |
6:47656563-47656563 | COSM3830701 | GPR111_ENST00000296862 | ENST00000296862 | p.H26R | c.77A>G | No | 99999 | No | 418 | Yes | 0 | 18 |
7:100991683-100991683 | COSM3831363 | MUC12_ENST00000379442 | ENST00000379442 | p.P517T | c.1549C>A | No | 99999 | No | 4864 | Yes | 0 | 19 |
7:100995203-100995203 | COSM3831382 | MUC12 | ENST00000536621 | p.K1547I | c.4640A>T | No | 99999 | No | 3691 | Yes | 0 | 23 |
7:100995203-100995203 | COSM3831383 | MUC12_ENST00000379442 | ENST00000379442 | p.K1690I | c.5069A>T | No | 99999 | No | 3691 | Yes | 0 | 23 |
7:100995872-100995872 | COSM3831384 | MUC12 | ENST00000536621 | p.T1770M | c.5309C>T | No | 99999 | No | 3468 | Yes | 0 | 18 |
7:100995872-100995872 | COSM3831385 | MUC12_ENST00000379442 | ENST00000379442 | p.T1913M | c.5738C>T | No | 99999 | No | 3468 | Yes | 0 | 18 |
7:100995896-100995896 | COSM3831386 | MUC12 | ENST00000536621 | p.S1778L | c.5333C>T | No | 99999 | No | 3460 | Yes | 0 | 19 |
7:100995896-100995896 | COSM3831387 | MUC12_ENST00000379442 | ENST00000379442 | p.S1921L | c.5762C>T | No | 99999 | No | 3460 | Yes | 0 | 19 |
7:100998350-100998350 | COSM3831395 | MUC12 | ENST00000536621 | p.T2596I | c.7787C>T | No | 99999 | No | 2642 | Yes | 0 | 10 |
7:100998350-100998350 | COSM3831396 | MUC12_ENST00000379442 | ENST00000379442 | p.T2739I | c.8216C>T | No | 99999 | No | 2642 | Yes | 0 | 10 |
7:101002450-101002450 | COSM3831414 | MUC12 | ENST00000536621 | p.E3963K | c.11887G>A | No | 99999 | No | 1275 | Yes | 0 | 12 |
7:101002450-101002450 | COSM3831415 | MUC12_ENST00000379442 | ENST00000379442 | p.E4106K | c.12316G>A | No | 99999 | No | 1275 | Yes | 0 | 12 |
7:101002918-101002918 | COSM3831416 | MUC12_ENST00000379442 | ENST00000379442 | p.F4262L | c.12784T>C | No | 99999 | No | 1119 | Yes | 0 | 13 |
7:101004057-101004057 | COSM3831424 | MUC12_ENST00000379442 | ENST00000379442 | p.D4641E | c.13923C>A | No | 99999 | No | 740 | Yes | 0 | 26 |
7:101004058-101004058 | COSM3831425 | MUC12_ENST00000379442 | ENST00000379442 | p.A4642T | c.13924G>A | No | 99999 | No | 739 | Yes | 0 | 28 |
7:101004371-101004371 | COSM3831426 | MUC12_ENST00000379442 | ENST00000379442 | p.T4746M | c.14237C>T | No | 99999 | No | 635 | Yes | 0 | 18 |
7:101004395-101004395 | COSM3831429 | MUC12 | ENST00000536621 | p.S4611L | c.13832C>T | No | 99999 | No | 627 | Yes | 0 | 18 |
7:101004395-101004395 | COSM3831430 | MUC12_ENST00000379442 | ENST00000379442 | p.S4754L | c.14261C>T | No | 99999 | No | 627 | Yes | 0 | 18 |
7:101004538-101004538 | COSM3831431 | MUC12_ENST00000379442 | ENST00000379442 | p.H4802Y | c.14404C>T | No | 99999 | No | 579 | Yes | 0 | 17 |
7:72942904-72942904 | COSM3833136 | POM121_ENST00000434423 | ENST00000434423 | p.A971T | c.2911G>A | No | 99999 | No | 914 | Yes | 0 | 22 |
7:72943042-72943042 | COSM3833138 | POM121_ENST00000434423 | ENST00000434423 | p.V1017I | c.3049G>A | No | 99999 | No | 960 | Yes | 0 | 16 |
20:17659141-17659141 | COSM3840503 | RRBP1_ENST00000377813 | ENST00000377813 | p.Q456P | c.1367A>C | No | 99999 | No | 425 | Yes | 0 | 14 |
20:17659171-17659171 | COSM3840504 | RRBP1_ENST00000377813 | ENST00000377813 | p.Q446P | c.1337A>C | No | 99999 | No | 415 | Yes | 0 | 16 |
3:195779246-195779246 | COSM3847087 | MUC4_ENST00000463781 | ENST00000463781 | p.P4112T | c.12334C>A | No | 99999 | No | 1260 | Yes | 0 | 13 |
3:195779575-195779575 | COSM3847095 | MUC4_ENST00000463781 | ENST00000463781 | p.P4002H | c.12005C>A | No | 99999 | No | 1370 | Yes | 0 | 15 |
3:195779611-195779611 | COSM3847097 | MUC4_ENST00000463781 | ENST00000463781 | p.T3990N | c.11969C>A | No | 99999 | No | 1382 | Yes | 0 | 12 |
3:195779671-195779671 | COSM3847101 | MUC4_ENST00000463781 | ENST00000463781 | p.P3970H | c.11909C>A | No | 99999 | No | 1402 | Yes | 0 | 13 |
3:195786494-195786494 | COSM3847130 | MUC4_ENST00000463781 | ENST00000463781 | p.R1696C | c.5086C>T | No | 99999 | No | 3676 | Yes | 0 | 10 |
3:195788270-195788270 | COSM3847134 | MUC4_ENST00000463781 | ENST00000463781 | p.S1104P | c.3310T>C | No | 99999 | No | 4268 | Yes | 0 | 16 |
9:104599318-104599318 | COSM3847245 | OR13C5 | ENST00000374779 | p.F32L | c.96C>G | No | 99999 | Yes | 0 | No | 7 | 12 |
9:104599361-104599361 | COSM3847246 | OR13C5 | ENST00000374779 | p.S18F | c.53C>T | No | 99999 | No | 8 | Yes | 0 | 11 |
9:34723938-34723938 | COSM3848422 | FAM205A | ENST00000378788 | p.R1101H | c.3302G>A | No | 99999 | No | 1072 | Yes | 0 | 15 |
9:34723938-34723938 | COSM3848423 | FAM205A_ENST00000378788 | ENST00000378788 | p.R1101H | c.3302G>A | No | 99999 | No | 1072 | Yes | 0 | 15 |
9:34726674-34726674 | COSM3848426 | FAM205A | ENST00000378788 | p.T189M | c.566C>T | No | 99999 | No | 160 | Yes | 0 | 17 |
9:34726674-34726674 | COSM3848427 | FAM205A_ENST00000378788 | ENST00000378788 | p.T189M | c.566C>T | No | 99999 | No | 160 | Yes | 0 | 17 |
9:42129091-42129091 | COSM3848594 | CNTNAP3B | ENST00000377564 | p.A2S | c.4G>T | No | 99999 | No | 1242 | Yes | 0 | 16 |
9:41991703-41991703 | COSM3848596 | CNTNAP3B | ENST00000377564 | p.R414S | c.1240C>A | No | 99999 | No | 830 | Yes | 0 | 16 |
9:41991685-41991685 | COSM3848597 | CNTNAP3B | ENST00000377564 | p.V420I | c.1258G>A | No | 99999 | No | 824 | Yes | 0 | 16 |
5:141236037-141236037 | COSM3919067 | PCDHB18 | ENST00000274705 | p.D442N | c.1324G>A | No | 99999 | No | 193 | Yes | 0 | 12 |
12:11061502-11061502 | COSM3927703 | TAS2R46 | ENST00000533467 | p.E265Q | c.793G>C | No | 99999 | Yes | 0 | No | 6 | 19 |
12:11061502-11061502 | COSM3927704 | TAS2R46_ENST00000422992 | ENST00000422992 | p.E265Q | c.793G>C | No | 99999 | Yes | 0 | No | 6 | 19 |
3:195780295-195780295 | COSM3927785 | MUC4_ENST00000463781 | ENST00000463781 | p.L3762P | c.11285T>C | No | 99999 | No | 1610 | Yes | 0 | 26 |
3:195780355-195780355 | COSM3927788 | MUC4_ENST00000463781 | ENST00000463781 | p.V3742A | c.11225T>C | No | 99999 | No | 1630 | Yes | 0 | 27 |
3:195782174-195782174 | COSM3927791 | MUC4_ENST00000463781 | ENST00000463781 | p.A3136P | c.9406G>C | No | 99999 | No | 2236 | Yes | 0 | 17 |
3:31617966-31617966 | COSM3927807 | STT3B | ENST00000295770 | p.F384V | c.1150T>G | No | 99999 | No | 10 | Yes | 0 | 17 |
9:115076417-115076417 | COSM3927862 | TNC | ENST00000350763 | p.Q945K | c.2833C>A | No | 99999 | No | 920 | Yes | 0 | 20 |
6:31271839-31271839 | COSM3928321 | HLA-C | ENST00000376228 | p.A35S | c.103G>T | No | 99999 | No | 271 | Yes | 0 | 10 |
6:31271839-31271839 | COSM3928322 | HLA-C_ENST00000539307 | ENST00000539307 | p.A72S | c.214G>T | No | 99999 | No | 271 | Yes | 0 | 10 |
6:31271839-31271839 | COSM3928323 | HLA-C_ENST00000383329 | ENST00000383329 | p.A35S | c.103G>T | No | 99999 | No | 271 | Yes | 0 | 10 |
1:248474116-248474116 | COSM3930714 | OR2T3 | ENST00000359594 | p.L256F | c.766C>T | No | 99999 | Yes | 0 | No | 12 | 12 |
11:17330136-17330136 | COSM3931289 | NUCB2 | ENST00000529010 | p.Q338E | c.1012C>G | No | 99999 | No | 311 | Yes | 0 | 12 |
12:11030942-11030942 | COSM3931510 | TAS2R31 | ENST00000390675 | p.M132V | c.394A>G | No | 99999 | Yes | 0 | No | 16 | 16 |
12:11091757-11091757 | COSM3931518 | TAS2R43 | ENST00000531678 | p.F158Y | c.473T>A | No | 99999 | No | 11 | Yes | 0 | 12 |
12:11091779-11091779 | COSM3931519 | TAS2R43 | ENST00000531678 | p.E151Q | c.451G>C | No | 99999 | No | 4 | Yes | 0 | 16 |
12:11091791-11091791 | COSM3931520 | TAS2R43 | ENST00000531678 | p.I147V | c.439A>G | No | 99999 | Yes | 0 | No | 1 | 18 |
19:8888802-8888802 | COSM3933248 | MUC16_ENST00000397910 | ENST00000397910 | p.Q13566R | c.40697A>G | No | 99999 | No | 887 | Yes | 0 | 12 |
19:8891828-8891828 | COSM3933250 | MUC16_ENST00000397910 | ENST00000397910 | p.N13438D | c.40312A>G | No | 99999 | No | 1015 | Yes | 0 | 23 |
2:128268184-128268184 | COSM3933308 | HS6ST1 | ENST00000259241 | p.S405I | c.1214G>T | No | 99999 | No | 368 | Yes | 0 | 10 |
3:195779218-195779218 | COSM3945315 | MUC4_ENST00000463781 | ENST00000463781 | p.A4121V | c.12362C>T | No | 99999 | No | 1251 | Yes | 0 | 14 |
3:195779678-195779678 | COSM3945324 | MUC4_ENST00000463781 | ENST00000463781 | p.S3968P | c.11902T>C | No | 99999 | No | 1404 | Yes | 0 | 15 |
7:100999297-100999297 | COSM3949625 | MUC12 | ENST00000536621 | p.A2912T | c.8734G>A | No | 99999 | No | 2326 | Yes | 0 | 11 |
7:100999297-100999297 | COSM3949626 | MUC12_ENST00000379442 | ENST00000379442 | p.A3055T | c.9163G>A | No | 99999 | No | 2326 | Yes | 0 | 11 |
9:34726207-34726207 | COSM3952674 | FAM205A_ENST00000378788 | ENST00000378788 | p.P345S | c.1033C>T | No | 99999 | No | 316 | Yes | 0 | 12 |
9:34726207-34726207 | COSM3952675 | FAM205A | ENST00000378788 | p.P345S | c.1033C>T | No | 99999 | No | 316 | Yes | 0 | 12 |
19:1011425-1011425 | COSM3959456 | C19orf6 | ENST00000356663 | p.A387P | c.1159G>C | No | 99999 | Yes | 0 | No | 1 | 24 |
1:201048677-201048677 | COSM3976829 | CACNA1S | ENST00000362061 | p.V1449G | c.4346T>G | No | 99999 | No | 69 | Yes | 0 | 20 |
9:104605150-104605150 | COSM3982658 | OR13C2 | ENST00000542196 | p.S160T | c.478T>A | No | 99999 | Yes | 0 | No | 4 | 12 |
9:104605560-104605560 | COSM3982660 | OR13C2 | ENST00000542196 | p.L23H | c.68T>A | No | 99999 | No | 3 | Yes | 0 | 10 |
9:34724062-34724062 | COSM3982841 | FAM205A_ENST00000378788 | ENST00000378788 | p.H1060Y | c.3178C>T | No | 99999 | No | 1031 | Yes | 0 | 15 |
9:34724062-34724062 | COSM3982842 | FAM205A | ENST00000378788 | p.H1060Y | c.3178C>T | No | 99999 | No | 1031 | Yes | 0 | 15 |
3:195780215-195780215 | COSM3992958 | MUC4_ENST00000463781 | ENST00000463781 | p.D3789H | c.11365G>C | No | 99999 | No | 1583 | Yes | 0 | 13 |
3:195780956-195780956 | COSM3992960 | MUC4_ENST00000463781 | ENST00000463781 | p.L3542F | c.10624C>T | No | 99999 | No | 1830 | Yes | 0 | 21 |
3:195787495-195787495 | COSM3992966 | MUC4_ENST00000463781 | ENST00000463781 | p.H1362P | c.4085A>C | No | 99999 | No | 4010 | Yes | 0 | 16 |
5:180628903-180628903 | COSM3994255 | FLT4_ENST00000261937 | ENST00000261937 | p.Y361S | c.1082A>C | No | 99999 | No | 415 | Yes | 0 | 10 |
5:180628903-180628903 | COSM3994256 | FLT4 | ENST00000393347 | p.Y361S | c.1082A>C | No | 99999 | No | 415 | Yes | 0 | 10 |
5:180628903-180628903 | COSM3994257 | FLT4_ENST00000376868 | ENST00000376868 | p.Y171S | c.512A>C | No | 99999 | No | 415 | Yes | 0 | 10 |
9:133475485-133475485 | COSM3996421 | SLC2A6_ENST00000414172 | ENST00000414172 | p.A120D | c.359C>A | No | 99999 | No | 85 | Yes | 0 | 12 |
1:1668373-1668373 | COSM3997009 | SLC35E2B_ENST00000378662 | ENST00000378662 | p.V312I | c.934G>A | No | 99999 | Yes | 0 | No | 7 | 22 |
1:1668373-1668373 | COSM3997010 | SLC35E2B | ENST00000378662 | p.V312I | c.934G>A | No | 99999 | Yes | 0 | No | 7 | 22 |
1:161629903-161629903 | COSM3997023 | FCGR3B | ENST00000294800 | p.N65S | c.194A>G | No | 99999 | No | 142 | Yes | 0 | 26 |
1:247921132-247921132 | COSM3997395 | OR2T8 | ENST00000319968 | p.G39S | c.115G>A | No | 99999 | Yes | 0 | No | 16 | 22 |
1:248273507-248273507 | COSM3997408 | OR2T33 | ENST00000318021 | p.P103L | c.308C>T | No | 99999 | Yes | 0 | No | 8 | 28 |
1:248488722-248488722 | COSM3997419 | OR2T5 | ENST00000366473 | p.G45E | c.134G>A | No | 99999 | Yes | 0 | No | 9 | 11 |
1:248488770-248488770 | COSM3997422 | OR2T5 | ENST00000366473 | p.S61T | c.182G>C | No | 99999 | No | 8 | Yes | 0 | 11 |
1:248559031-248559031 | COSM3997425 | OR2T29 | ENST00000328570 | p.F154S | c.461T>C | No | 99999 | Yes | 0 | No | 13 | 11 |
1:248559320-248559320 | COSM3997426 | OR2T29 | ENST00000328570 | p.H58Y | c.172C>T | No | 99999 | No | 5 | Yes | 0 | 15 |
1:248573992-248573992 | COSM3997430 | OR2T34 | ENST00000328782 | p.L256F | c.766C>T | No | 99999 | Yes | 0 | No | 9 | 16 |
10:100356554-100356554 | COSM3997733 | SCD | ENST00000370355 | p.M224L | c.670A>C | No | 99999 | Yes | 0 | No | 16 | 14 |
11:124038943-124038943 | COSM3998290 | OR10G7 | ENST00000330487 | p.G20A | c.59G>C | No | 99999 | No | 5 | Yes | 0 | 11 |
11:124038946-124038946 | COSM3998291 | OR10G7 | ENST00000330487 | p.P19Q | c.56C>A | No | 99999 | No | 6 | Yes | 0 | 11 |
11:124038949-124038949 | COSM3998292 | OR10G7 | ENST00000330487 | p.A18V | c.53C>T | No | 99999 | No | 7 | Yes | 0 | 11 |
11:48325548-48325548 | COSM3998421 | OR4C3 | ENST00000319856 | p.A203V | c.608C>T | No | 99999 | No | 15 | Yes | 0 | 25 |
11:48325578-48325578 | COSM3998422 | OR4C3 | ENST00000319856 | p.A213G | c.638C>G | No | 99999 | No | 10 | Yes | 0 | 25 |
16:21211351-21211351 | COSM3999773 | ZP2 | ENST00000219593 | p.G36V | c.107G>T | No | 99999 | No | 680 | Yes | 0 | 13 |
17:39723335-39723335 | COSM4000121 | ERBB2 | ENST00000269571 | p.I655V | c.1963A>G | No | 99999 | Yes | 0 | No | 3 | 18 |
2:230910379-230910379 | COSM4001538 | GPR55 | ENST00000392039 | p.G195V | c.584G>T | No | 99999 | Yes | 0 | No | 15 | 11 |
2:85344105-85344105 | COSM4001768 | RETSAT | ENST00000295802 | p.A476G | c.1427C>G | No | 99999 | No | 452 | Yes | 0 | 11 |
21:33241950-33241950 | COSM4002001 | IFNAR2 | ENST00000382241 | p.F10V | c.28T>G | No | 99999 | Yes | 0 | No | 20 | 13 |
21:33241950-33241950 | COSM4002002 | IFNAR2_ENST00000404220 | ENST00000404220 | p.F10V | c.28T>G | No | 99999 | Yes | 0 | No | 20 | 13 |
3:195779285-195779285 | COSM4002565 | MUC4_ENST00000463781 | ENST00000463781 | p.L4099V | c.12295C>G | No | 99999 | No | 1273 | Yes | 0 | 12 |
3:195780494-195780494 | COSM4002567 | MUC4_ENST00000463781 | ENST00000463781 | p.P3696S | c.11086C>T | No | 99999 | No | 1676 | Yes | 0 | 20 |
3:195780501-195780501 | COSM4002569 | MUC4_ENST00000463781 | ENST00000463781 | p.Q3693H | c.11079G>C | No | 99999 | No | 1679 | Yes | 0 | 20 |
3:195780590-195780590 | COSM4002570 | MUC4_ENST00000463781 | ENST00000463781 | p.P3664S | c.10990C>T | No | 99999 | No | 1708 | Yes | 0 | 24 |
3:195780620-195780620 | COSM4002572 | MUC4_ENST00000463781 | ENST00000463781 | p.A3654T | c.10960G>A | No | 99999 | No | 1718 | Yes | 0 | 24 |
3:195780623-195780623 | COSM4002574 | MUC4_ENST00000463781 | ENST00000463781 | p.D3653N | c.10957G>A | No | 99999 | No | 1719 | Yes | 0 | 22 |
3:195783956-195783956 | COSM4002583 | MUC4_ENST00000463781 | ENST00000463781 | p.A2542T | c.7624G>A | No | 99999 | No | 2830 | Yes | 0 | 21 |
3:195787238-195787238 | COSM4002591 | MUC4_ENST00000463781 | ENST00000463781 | p.A1448S | c.4342G>T | No | 99999 | No | 3924 | Yes | 0 | 20 |
3:195787273-195787273 | COSM4002593 | MUC4_ENST00000463781 | ENST00000463781 | p.D1436G | c.4307A>G | No | 99999 | No | 3936 | Yes | 0 | 21 |
3:195787522-195787522 | COSM4002597 | MUC4_ENST00000463781 | ENST00000463781 | p.V1353A | c.4058T>C | No | 99999 | No | 4019 | Yes | 0 | 22 |
3:195787532-195787532 | COSM4002599 | MUC4_ENST00000463781 | ENST00000463781 | p.A1350T | c.4048G>A | No | 99999 | No | 4022 | Yes | 0 | 19 |
3:195787862-195787862 | COSM4002605 | MUC4_ENST00000463781 | ENST00000463781 | p.A1240S | c.3718G>T | No | 99999 | No | 4132 | Yes | 0 | 23 |
3:195787897-195787897 | COSM4002607 | MUC4_ENST00000463781 | ENST00000463781 | p.D1228G | c.3683A>G | No | 99999 | No | 4144 | Yes | 0 | 22 |
3:195788444-195788444 | COSM4002609 | MUC4_ENST00000463781 | ENST00000463781 | p.F1046L | c.3136T>C | No | 99999 | No | 4326 | Yes | 0 | 22 |
3:98133239-98133239 | COSM4002844 | OR5H1 | ENST00000354565 | p.T181I | c.542C>T | No | 99999 | No | 23 | Yes | 0 | 24 |
6:29944264-29944264 | COSM4003867 | HLA-A | ENST00000396634 | p.L254L | c.762C>T | No | 99999 | No | 54 | Yes | 0 | 10 |
6:31271339-31271339 | COSM4003918 | HLA-C_ENST00000539307 | ENST00000539307 | p.T155I | c.464C>T | No | 99999 | No | 188 | Yes | 0 | 11 |
6:32581563-32581563 | COSM4003992 | HLA-DRB1 | ENST00000360004 | p.E216Q | c.646G>C | No | 99999 | No | 12 | Yes | 0 | 13 |
6:32581625-32581625 | COSM4003994 | HLA-DRB1 | ENST00000360004 | p.R195Q | c.584G>A | No | 99999 | No | 33 | Yes | 0 | 11 |
6:32664923-32664923 | COSM4004008 | HLA-DQB1 | ENST00000399084 | p.Q85L | c.254A>T | No | 99999 | No | 147 | Yes | 0 | 16 |
7:101004267-101004267 | COSM4004203 | MUC12 | ENST00000536621 | p.L4568F | c.13704G>C | No | 99999 | No | 670 | Yes | 0 | 26 |
7:101004267-101004267 | COSM4004204 | MUC12_ENST00000379442 | ENST00000379442 | p.L4711F | c.14133G>C | No | 99999 | No | 670 | Yes | 0 | 26 |
7:101004284-101004284 | COSM4004205 | MUC12 | ENST00000536621 | p.S4574L | c.13721C>T | No | 99999 | No | 664 | Yes | 0 | 23 |
7:101004284-101004284 | COSM4004206 | MUC12_ENST00000379442 | ENST00000379442 | p.S4717L | c.14150C>T | No | 99999 | No | 664 | Yes | 0 | 23 |
22:36923285-36923285 | COSM4004926 | CSF2RB | ENST00000403662 | p.T40P | c.118A>C | No | 99999 | No | 403 | Yes | 0 | 15 |
23:119469784-119469784 | COSM4004985 | SLC25A5 | ENST00000317881 | p.I79F | c.235A>T | No | 99999 | No | 30 | Yes | 0 | 27 |
3:195779036-195779036 | COSM4005333 | MUC4_ENST00000463781 | ENST00000463781 | p.T4182P | c.12544A>C | No | 99999 | No | 1190 | Yes | 0 | 13 |
3:195779659-195779659 | COSM4005360 | MUC4_ENST00000463781 | ENST00000463781 | p.R3974P | c.11921G>C | No | 99999 | No | 1398 | Yes | 0 | 21 |
3:195779660-195779660 | COSM4005361 | MUC4_ENST00000463781 | ENST00000463781 | p.R3974S | c.11920C>A | No | 99999 | No | 1398 | Yes | 0 | 12 |
3:195780092-195780092 | COSM4005368 | MUC4_ENST00000463781 | ENST00000463781 | p.A3830T | c.11488G>A | No | 99999 | No | 1542 | Yes | 0 | 19 |
3:195780095-195780095 | COSM4005369 | MUC4_ENST00000463781 | ENST00000463781 | p.D3829N | c.11485G>A | No | 99999 | No | 1543 | Yes | 0 | 10 |
3:195780527-195780527 | COSM4005375 | MUC4_ENST00000463781 | ENST00000463781 | p.D3685N | c.11053G>A | No | 99999 | No | 1687 | Yes | 0 | 19 |
3:195780535-195780535 | COSM4005376 | MUC4_ENST00000463781 | ENST00000463781 | p.P3682L | c.11045C>T | No | 99999 | No | 1690 | Yes | 0 | 13 |
3:195780572-195780572 | COSM4005379 | MUC4_ENST00000463781 | ENST00000463781 | p.T3670P | c.11008A>C | No | 99999 | No | 1702 | Yes | 0 | 21 |
3:195780574-195780574 | COSM4005381 | MUC4_ENST00000463781 | ENST00000463781 | p.D3669V | c.11006A>T | No | 99999 | No | 1703 | Yes | 0 | 18 |
3:195780812-195780812 | COSM4005387 | MUC4_ENST00000463781 | ENST00000463781 | p.A3590T | c.10768G>A | No | 99999 | No | 1782 | Yes | 0 | 17 |
3:195781196-195781196 | COSM4005390 | MUC4_ENST00000463781 | ENST00000463781 | p.T3462P | c.10384A>C | No | 99999 | No | 1910 | Yes | 0 | 12 |
3:195781198-195781198 | COSM4005391 | MUC4_ENST00000463781 | ENST00000463781 | p.D3461G | c.10382A>G | No | 99999 | No | 1911 | Yes | 0 | 11 |
3:195783838-195783838 | COSM4005422 | MUC4_ENST00000463781 | ENST00000463781 | p.S2581N | c.7742G>A | No | 99999 | No | 2791 | Yes | 0 | 10 |
3:195784412-195784412 | COSM4005430 | MUC4_ENST00000463781 | ENST00000463781 | p.A2390P | c.7168G>C | No | 99999 | No | 2982 | Yes | 0 | 12 |
3:195784414-195784414 | COSM4005432 | MUC4_ENST00000463781 | ENST00000463781 | p.D2389G | c.7166A>G | No | 99999 | No | 2983 | Yes | 0 | 13 |
3:195784415-195784415 | COSM4005434 | MUC4_ENST00000463781 | ENST00000463781 | p.D2389N | c.7165G>A | No | 99999 | No | 2983 | Yes | 0 | 13 |
3:195784676-195784676 | COSM4005440 | MUC4_ENST00000463781 | ENST00000463781 | p.A2302T | c.6904G>A | No | 99999 | No | 3070 | Yes | 0 | 16 |
3:195786976-195786976 | COSM4005454 | MUC4_ENST00000463781 | ENST00000463781 | p.M1535T | c.4604T>C | No | 99999 | No | 3837 | Yes | 0 | 22 |
3:195787453-195787453 | COSM4005474 | MUC4_ENST00000463781 | ENST00000463781 | p.P1376L | c.4127C>T | No | 99999 | No | 3996 | Yes | 0 | 18 |
3:195787988-195787988 | COSM4005486 | MUC4_ENST00000463781 | ENST00000463781 | p.A1198T | c.3592G>A | No | 99999 | No | 4174 | Yes | 0 | 10 |
3:195788443-195788443 | COSM4005498 | MUC4_ENST00000463781 | ENST00000463781 | p.F1046S | c.3137T>C | No | 99999 | No | 4326 | Yes | 0 | 17 |
3:195788540-195788540 | COSM4005506 | MUC4_ENST00000463781 | ENST00000463781 | p.P1014T | c.3040C>A | No | 99999 | No | 4358 | Yes | 0 | 21 |
5:40691971-40691971 | COSM4006018 | PTGER4 | ENST00000302472 | p.S354A | c.1060T>G | No | 99999 | No | 61 | Yes | 0 | 13 |
6:167315287-167315287 | COSM4006201 | UNC93A | ENST00000230256 | p.M403I | c.1209G>A | No | 99999 | Yes | 0 | No | 4 | 13 |
6:29889460-29889460 | COSM4006256 | ENSG00000196306 | ENST00000360432 | p.D252H | c.754G>C | No | 99999 | No | 57 | Yes | 0 | 33 |
6:29889725-29889725 | COSM4006258 | ENSG00000196306 | ENST00000360432 | p.N306T | c.917A>C | No | 99999 | No | 3 | Yes | 0 | 20 |
6:29942940-29942940 | COSM4006261 | HLA-A | ENST00000396634 | p.Q86R | c.257A>G | No | 99999 | No | 222 | Yes | 0 | 13 |
6:29944253-29944253 | COSM4006265 | HLA-A | ENST00000396634 | p.D251H | c.751G>C | No | 99999 | No | 57 | Yes | 0 | 23 |
6:31356176-31356176 | COSM4006327 | HLA-B | ENST00000412585 | p.E204Q | c.610G>C | No | 99999 | No | 104 | Yes | 0 | 14 |
6:31356323-31356323 | COSM4006329 | HLA-B | ENST00000412585 | p.R155S | c.463C>A | No | 99999 | No | 153 | Yes | 0 | 19 |
6:31356367-31356367 | COSM4006330 | HLA-B | ENST00000412585 | p.Y140F | c.419A>T | No | 99999 | No | 168 | Yes | 0 | 21 |
6:32530183-32530183 | COSM4006422 | HLA-DRB5 | ENST00000374975 | p.K14N | c.42G>T | No | 99999 | No | 214 | Yes | 0 | 11 |
6:32584193-32584193 | COSM4006428 | HLA-DRB1 | ENST00000360004 | p.I96L | c.286A>C | No | 99999 | No | 132 | Yes | 0 | 19 |
6:32665004-32665004 | COSM4006437 | HLA-DQB1 | ENST00000399084 | p.L58H | c.173T>A | No | 99999 | No | 174 | Yes | 0 | 11 |
6:33080912-33080912 | COSM4006446 | HLA-DPB1 | ENST00000418931 | p.G114E | c.341G>A | No | 99999 | No | 112 | Yes | 0 | 16 |
6:33080912-33080912 | COSM4006447 | HLA-DPB1_ENST00000416804 | ENST00000416804 | p.G81R | c.241G>A | No | 99999 | No | 112 | Yes | 0 | 16 |
6:33080914-33080914 | COSM4006449 | HLA-DPB1 | ENST00000418931 | p.P115A | c.343C>G | No | 99999 | No | 111 | Yes | 0 | 17 |
7:72943054-72943054 | COSM4006750 | POM121_ENST00000434423 | ENST00000434423 | p.Y1021H | c.3061T>C | No | 99999 | No | 964 | Yes | 0 | 16 |
9:137882854-137882854 | COSM4007112 | CACNA1B | ENST00000371372 | p.N167K | c.501C>G | No | 99999 | Yes | 0 | No | 17 | 26 |
9:33385788-33385788 | COSM4007153 | AQP7_ENST00000539936 | ENST00000539936 | p.E202Q | c.604G>C | No | 99999 | No | 1 | Yes | 0 | 14 |
9:33385788-33385788 | COSM4007154 | AQP7_ENST00000379503 | ENST00000379503 | p.E138Q | c.412G>C | No | 99999 | No | 1 | Yes | 0 | 14 |
9:33385854-33385854 | COSM4007156 | AQP7_ENST00000539936 | ENST00000539936 | p.G180R | c.538G>A | No | 99999 | Yes | 0 | No | 11 | 18 |
9:33385854-33385854 | COSM4007157 | AQP7_ENST00000379503 | ENST00000379503 | p.G116R | c.346G>A | No | 99999 | No | 17 | Yes | 0 | 18 |
9:33386148-33386148 | COSM4007159 | AQP7_ENST00000539936 | ENST00000539936 | p.V152F | c.454G>T | No | 99999 | Yes | 0 | No | 14 | 17 |
9:33386148-33386148 | COSM4007160 | AQP7_ENST00000379503 | ENST00000379503 | p.V88F | c.262G>T | No | 99999 | Yes | 0 | No | 12 | 17 |
9:33386467-33386467 | COSM4007164 | AQP7_ENST00000541274 | ENST00000541274 | p.Y23H | c.67T>C | No | 99999 | Yes | 0 | No | 4 | 27 |
15:88032954-88032954 | COSM4128519 | NTRK3 | ENST00000394480 | p.A496A | c.1488C>G | No | 99999 | No | 44 | Yes | 0 | 14 |
16:2114807-2114807 | COSM4128808 | PKD1 | ENST00000262304 | p.R739Q | c.2216G>A | No | 99999 | No | 2334 | Yes | 0 | 24 |
16:5033339-5033339 | COSM4129105 | NAGPA | ENST00000312251 | p.V159G | c.476T>G | No | 99999 | No | 291 | Yes | 0 | 12 |
16:70177323-70177323 | COSM4129262 | CLEC18C | ENST00000314151 | p.L100P | c.299T>C | Yes | 0 | No | 99999 | No | 99999 | 15 |
17:21415767-21415767 | COSM4129714 | KCNJ12 | ENST00000331718 | p.T142N | c.425C>A | No | 99999 | Yes | 0 | No | 17 | 17 |
17:21416211-21416211 | COSM4129717 | KCNJ12 | ENST00000331718 | p.T290M | c.869C>T | No | 99999 | No | 113 | Yes | 0 | 25 |
17:21416231-21416231 | COSM4129718 | KCNJ12 | ENST00000331718 | p.V297I | c.889G>A | No | 99999 | No | 120 | Yes | 0 | 23 |
17:21416248-21416248 | COSM4129719 | KCNJ12 | ENST00000331718 | p.M302I | c.906G>T | No | 99999 | No | 125 | Yes | 0 | 26 |
17:43953375-43953375 | COSM4130126 | PYY | ENST00000360085 | p.R37G | c.109C>G | No | 99999 | No | 8 | Yes | 0 | 25 |
17:43953375-43953375 | COSM4130127 | PYY_ENST00000360085 | ENST00000360085_v70 | p.R37G | c.109C>G | No | 99999 | No | 8 | Yes | 0 | 25 |
17:62666797-62666797 | COSM4130473 | MRC2 | ENST00000303375 | p.L300F | c.900G>T | No | 99999 | No | 1113 | Yes | 0 | 12 |
17:63435236-63435236 | COSM4130476 | CYB561 | ENST00000392975 | p.V138G | c.413T>G | No | 99999 | Yes | 0 | No | 13 | 12 |
17:64896324-64896324 | COSM4130503 | LRRC37A3 | ENST00000319651 | p.P312A | c.934C>G | No | 99999 | No | 1270 | Yes | 0 | 15 |
17:7482960-7482960 | COSM4130644 | POLR2A_ENST00000412468 | ENST00000412468 | p.W326R | c.976T>C | No | 99999 | Yes | 0 | No | 16 | 24 |
17:7482961-7482961 | COSM4130645 | POLR2A_ENST00000412468 | ENST00000412468 | p.W326* | c.977G>A | No | 99999 | Yes | 0 | No | 16 | 23 |
17:81280678-81280678 | COSM4130806 | SLC38A10_ENST00000374759 | ENST00000374759 | p.V186G | c.557T>G | No | 99999 | No | 15 | Yes | 0 | 19 |
17:81280678-81280678 | COSM4130807 | SLC38A10 | ENST00000288439 | p.V186G | c.557T>G | No | 99999 | No | 15 | Yes | 0 | 19 |
19:14767004-14767004 | COSM4131294 | EMR2 | ENST00000315576 | p.K154I | c.461A>T | No | 99999 | No | 384 | Yes | 0 | 14 |
19:14767008-14767008 | COSM4131295 | EMR2 | ENST00000315576 | p.L153F | c.457C>T | No | 99999 | No | 385 | Yes | 0 | 13 |
19:15794719-15794719 | COSM4131338 | OR10H5 | ENST00000308940 | p.A224D | c.671C>A | No | 99999 | Yes | 0 | No | 20 | 11 |
19:35372126-35372126 | COSM4131667 | GPR42 | ENST00000246538 | p.V256A | c.767T>C | No | 99999 | Yes | 0 | No | 1 | 11 |
19:35845535-35845535 | COSM4131710 | NPHS1 | ENST00000378910 | p.E588G | c.1763A>G | No | 99999 | No | 476 | Yes | 0 | 18 |
19:38360815-38360815 | COSM4131775 | CATSPERG_ENST00000409235 | ENST00000409235 | p.T618P | c.1852A>C | No | 99999 | No | 455 | Yes | 0 | 14 |
19:39244466-39244466 | COSM4131799 | IL28B | ENST00000413851 | p.K70R | c.209A>G | No | 99999 | No | 45 | Yes | 0 | 13 |
19:40875742-40875742 | COSM4131878 | CYP2A7 | ENST00000301146 | p.V479G | c.1436T>G | No | 99999 | No | 455 | Yes | 0 | 21 |
19:40875742-40875742 | COSM4131879 | CYP2A7_ENST00000291764 | ENST00000291764 | p.V428G | c.1283T>G | No | 99999 | No | 404 | Yes | 0 | 21 |
19:40880581-40880581 | COSM4131880 | CYP2A7_ENST00000291764 | ENST00000291764 | p.A80S | c.238G>T | No | 99999 | No | 56 | Yes | 0 | 21 |
19:46756477-46756477 | COSM4132180 | FKRP | ENST00000318584 | p.E343Q | c.1027G>C | No | 99999 | No | 314 | Yes | 0 | 22 |
19:54278869-54278869 | COSM4132485 | LILRB2 | ENST00000314446 | p.H300Y | c.898C>T | No | 99999 | No | 160 | Yes | 0 | 21 |
19:5866725-5866725 | COSM4132697 | FUT5 | ENST00000252675 | p.H334R | c.1001A>G | No | 99999 | No | 300 | Yes | 0 | 18 |
19:7166365-7166365 | COSM4132751 | INSR_ENST00000302850 | ENST00000302850 | p.A550A | c.1650G>A | No | 99999 | No | 407 | Yes | 0 | 11 |
19:7166377-7166377 | COSM4132752 | INSR | ENST00000302850 | p.D546D | c.1638C>T | No | 99999 | No | 411 | Yes | 0 | 11 |
19:7166377-7166377 | COSM4132753 | INSR_ENST00000302850 | ENST00000302850 | p.D546D | c.1638C>T | No | 99999 | No | 411 | Yes | 0 | 11 |
19:7689408-7689408 | COSM4132773 | FCER2 | ENST00000346664 | p.T251P | c.751A>C | No | 99999 | No | 205 | Yes | 0 | 20 |
2:102165191-102165191 | COSM4132931 | IL1R1 | ENST00000233946 | p.Q125K | c.373C>A | No | 99999 | No | 212 | Yes | 0 | 23 |
2:230049888-230049888 | COSM4133532 | SLC16A14 | ENST00000295190 | p.L92F | c.276G>T | No | 99999 | Yes | 0 | No | 20 | 26 |
2:42763204-42763204 | COSM4133841 | OXER1 | ENST00000378661 | p.A326P | c.976G>C | No | 99999 | No | 4 | Yes | 0 | 22 |
20:1611493-1611493 | COSM4134244 | SIRPB1_ENST00000279477 | ENST00000279477 | p.N99K | c.297C>A | No | 99999 | No | 273 | Yes | 0 | 14 |
20:1611495-1611495 | COSM4134245 | SIRPB1_ENST00000279477 | ENST00000279477 | p.N99D | c.295A>G | No | 99999 | No | 273 | Yes | 0 | 14 |
20:1611506-1611506 | COSM4134246 | SIRPB1_ENST00000279477 | ENST00000279477 | p.L95P | c.284T>C | No | 99999 | No | 277 | Yes | 0 | 13 |
20:1611507-1611507 | COSM4134247 | SIRPB1_ENST00000279477 | ENST00000279477 | p.L95F | c.283C>T | No | 99999 | No | 277 | Yes | 0 | 13 |
20:1611508-1611508 | COSM4134248 | SIRPB1_ENST00000279477 | ENST00000279477 | p.D94E | c.282C>G | No | 99999 | No | 278 | Yes | 0 | 13 |
20:17659201-17659201 | COSM4134268 | RRBP1_ENST00000377813 | ENST00000377813 | p.Q436P | c.1307A>C | No | 99999 | No | 405 | Yes | 0 | 24 |
20:17659205-17659205 | COSM4134269 | RRBP1_ENST00000377813 | ENST00000377813 | p.A435T | c.1303G>A | No | 99999 | No | 404 | Yes | 0 | 17 |
20:17659231-17659231 | COSM4134270 | RRBP1_ENST00000377813 | ENST00000377813 | p.Q426P | c.1277A>C | No | 99999 | No | 395 | Yes | 0 | 26 |
20:1915304-1915304 | COSM4134293 | SIRPA | ENST00000356025 | p.D95E | c.285C>G | No | 99999 | No | 277 | Yes | 0 | 15 |
20:1915304-1915304 | COSM4134294 | SIRPA_ENST00000400068 | ENST00000400068 | p.D95E | c.285C>G | No | 99999 | No | 277 | Yes | 0 | 15 |
20:1915305-1915305 | COSM4134295 | SIRPA | ENST00000356025 | p.L96F | c.286C>T | No | 99999 | No | 276 | Yes | 0 | 15 |
20:1915305-1915305 | COSM4134296 | SIRPA_ENST00000400068 | ENST00000400068 | p.L96F | c.286C>T | No | 99999 | No | 276 | Yes | 0 | 15 |
20:1915306-1915306 | COSM4134297 | SIRPA | ENST00000356025 | p.L96P | c.287T>C | No | 99999 | No | 276 | Yes | 0 | 15 |
20:1915306-1915306 | COSM4134298 | SIRPA_ENST00000400068 | ENST00000400068 | p.L96P | c.287T>C | No | 99999 | No | 276 | Yes | 0 | 15 |
20:23036055-23036055 | COSM4134312 | SSTR4 | ENST00000255008 | p.R191P | c.572G>C | No | 99999 | No | 7 | Yes | 0 | 12 |
21:42111387-42111387 | COSM4134953 | UMODL1_ENST00000408989 | ENST00000408989 | p.S722T | c.2165G>C | No | 99999 | No | 677 | Yes | 0 | 10 |
1:161672984-161672984 | COSM4142923 | FCGR2B_ENST00000358671 | ENST00000358671 | p.V134G | c.401T>G | No | 99999 | No | 90 | Yes | 0 | 22 |
1:16049696-16049696 | COSM4142952 | CLCNKB | ENST00000375679 | p.A287V | c.860C>T | No | 99999 | Yes | 0 | No | 5 | 25 |
1:16049696-16049696 | COSM4142953 | CLCNKB_ENST00000375667 | ENST00000375667 | p.A118V | c.353C>T | No | 99999 | Yes | 0 | No | 15 | 25 |
1:1734736-1734736 | COSM4142977 | SLC35E2 | ENST00000246421 | p.R229H | c.686G>A | No | 99999 | No | 65 | Yes | 0 | 21 |
1:208098968-208098968 | COSM4143293 | PLXNA2 | ENST00000367033 | p.C537G | c.1609T>G | No | 99999 | No | 701 | Yes | 0 | 29 |
1:215786811-215786811 | COSM4143327 | USH2A_ENST00000366943 | ENST00000366943 | p.C3416G | c.10246T>G | No | 99999 | No | 1625 | Yes | 0 | 20 |
1:22120073-22120073 | COSM4143386 | WNT4 | ENST00000290167 | p.V345L | c.1033G>C | No | 99999 | No | 316 | Yes | 0 | 10 |
1:247921307-247921307 | COSM4143643 | OR2T8 | ENST00000319968 | p.A97V | c.290C>T | No | 99999 | Yes | 0 | No | 2 | 25 |
1:247921445-247921445 | COSM4143645 | OR2T8 | ENST00000319968 | p.N143T | c.428A>C | No | 99999 | Yes | 0 | No | 18 | 24 |
1:247921523-247921523 | COSM4143646 | OR2T8 | ENST00000319968 | p.A169V | c.506C>T | No | 99999 | No | 9 | Yes | 0 | 23 |
1:247921552-247921552 | COSM4143647 | OR2T8 | ENST00000319968 | p.T179A | c.535A>G | No | 99999 | No | 19 | Yes | 0 | 19 |
1:248273154-248273154 | COSM4143652 | OR2T33 | ENST00000318021 | p.A221S | c.661G>T | No | 99999 | Yes | 0 | No | 20 | 17 |
1:248273336-248273336 | COSM4143654 | OR2T33 | ENST00000318021 | p.V160A | c.479T>C | No | 99999 | Yes | 0 | No | 1 | 20 |
1:248273700-248273700 | COSM4143656 | OR2T33 | ENST00000318021 | p.G39S | c.115G>A | No | 99999 | Yes | 0 | No | 16 | 11 |
1:248295269-248295269 | COSM4143658 | OR2T12 | ENST00000317996 | p.T104S | c.310A>T | No | 99999 | Yes | 0 | No | 9 | 18 |
1:248573958-248573958 | COSM4143671 | OR2T34 | ENST00000328782 | p.R267P | c.800G>C | No | 99999 | No | 3 | Yes | 0 | 24 |
1:248638477-248638477 | COSM4143675 | OR2T35 | ENST00000317450 | p.L261Q | c.782T>A | No | 99999 | No | 3 | Yes | 0 | 24 |
1:248639168-248639168 | COSM4143677 | OR2T35 | ENST00000317450 | p.V31I | c.91G>A | No | 99999 | Yes | 0 | No | 5 | 26 |
1:25420739-25420739 | COSM4143691 | RHCE_ENST00000413854 | ENST00000413854 | p.C16W | c.48C>G | No | 99999 | Yes | 0 | No | 19 | 18 |
1:36853669-36853669 | COSM4143877 | GRIK3 | ENST00000373091 | p.L386F | c.1158G>T | No | 99999 | No | 179 | Yes | 0 | 11 |
1:36853669-36853669 | COSM4143878 | GRIK3_ENST00000373093 | ENST00000373093 | p.L386F | c.1158G>T | No | 99999 | No | 179 | Yes | 0 | 11 |
10:43100520-43100520 | COSM4144677 | RET | ENST00000355710 | p.A45A | c.135A>G | No | 99999 | No | 13 | Yes | 0 | 23 |
10:43100520-43100520 | COSM4144678 | RET_ENST00000340058 | ENST00000340058 | p.A45A | c.135A>G | No | 99999 | No | 13 | Yes | 0 | 23 |
11:124023280-124023280 | COSM4145436 | OR10G9 | ENST00000375024 | p.A90T | c.268G>A | No | 99999 | No | 7 | Yes | 0 | 11 |
11:124397252-124397252 | COSM4145443 | OR8B3 | ENST00000354597 | p.V34I | c.100G>A | No | 99999 | Yes | 0 | No | 16 | 12 |
11:48325036-48325036 | COSM4145770 | OR4C3 | ENST00000319856 | p.Q32H | c.96A>C | No | 99999 | No | 7 | Yes | 0 | 25 |
11:48325572-48325572 | COSM4145775 | OR4C3 | ENST00000319856 | p.E211G | c.632A>G | No | 99999 | No | 12 | Yes | 0 | 24 |
11:48325790-48325790 | COSM4145776 | OR4C3 | ENST00000319856 | p.V284M | c.850G>A | No | 99999 | Yes | 0 | No | 4 | 24 |
11:48325794-48325794 | COSM4145777 | OR4C3 | ENST00000319856 | p.H285L | c.854A>T | No | 99999 | Yes | 0 | No | 3 | 25 |
11:56700568-56700568 | COSM4145895 | OR9G1 | ENST00000312153 | p.F61V | c.181T>G | No | 99999 | Yes | 0 | No | 4 | 21 |
11:56701228-56701228 | COSM4145899 | OR9G1 | ENST00000312153 | p.F281L | c.841T>C | No | 99999 | Yes | 0 | No | 11 | 10 |
11:62633480-62633480 | COSM4146017 | GANAB_ENST00000346178 | ENST00000346178 | p.A221P | c.661G>C | No | 99999 | No | 189 | Yes | 0 | 14 |
11:62633480-62633480 | COSM4146018 | GANAB | ENST00000356638 | p.A199P | c.595G>C | No | 99999 | No | 167 | Yes | 0 | 14 |
12:11021773-11021773 | COSM4146556 | TAS2R19 | ENST00000390673 | p.V267L | c.799G>C | No | 99999 | Yes | 0 | No | 9 | 23 |
12:11021781-11021781 | COSM4146557 | TAS2R19 | ENST00000390673 | p.C264Y | c.791G>A | No | 99999 | Yes | 0 | No | 6 | 18 |
12:11021791-11021791 | COSM4146558 | TAS2R19 | ENST00000390673 | p.L261F | c.781C>T | No | 99999 | Yes | 0 | No | 3 | 17 |
12:11021798-11021798 | COSM4146559 | TAS2R19 | ENST00000390673 | p.K258N | c.774A>T | No | 99999 | No | 1 | Yes | 0 | 17 |
12:11021817-11021817 | COSM4146560 | TAS2R19 | ENST00000390673 | p.L252P | c.755T>C | No | 99999 | No | 3 | Yes | 0 | 15 |
12:11030876-11030876 | COSM4146591 | TAS2R31 | ENST00000390675 | p.R154W | c.460C>T | No | 99999 | No | 7 | Yes | 0 | 12 |
12:11030885-11030885 | COSM4146592 | TAS2R31 | ENST00000390675 | p.E151Q | c.451G>C | No | 99999 | No | 4 | Yes | 0 | 20 |
12:11030886-11030886 | COSM4146593 | TAS2R31 | ENST00000390675 | p.K150N | c.450A>T | No | 99999 | No | 3 | Yes | 0 | 16 |
12:11031098-11031098 | COSM4146596 | TAS2R31 | ENST00000390675 | p.V80L | c.238G>T | No | 99999 | No | 5 | Yes | 0 | 25 |
12:11031123-11031123 | COSM4146597 | TAS2R31 | ENST00000390675 | p.F71L | c.213T>G | No | 99999 | No | 1 | Yes | 0 | 25 |
12:11091348-11091348 | COSM4146616 | TAS2R43 | ENST00000531678 | p.F294L | c.882T>G | No | 99999 | No | 41 | Yes | 0 | 15 |
12:11091361-11091361 | COSM4146617 | TAS2R43 | ENST00000531678 | p.F290Y | c.869T>A | No | 99999 | No | 37 | Yes | 0 | 15 |
12:11091503-11091503 | COSM4146618 | TAS2R43 | ENST00000531678 | p.L243V | c.727C>G | No | 99999 | Yes | 0 | No | 11 | 20 |
12:11091770-11091770 | COSM4146624 | TAS2R43 | ENST00000531678 | p.R154W | c.460C>T | No | 99999 | No | 7 | Yes | 0 | 11 |
12:11133650-11133650 | COSM4146648 | TAS2R30 | ENST00000539585 | p.I199V | c.595A>G | No | 99999 | Yes | 0 | No | 23 | 28 |
12:130971535-130971535 | COSM4146824 | GPR133 | ENST00000261654 | p.Y89D | c.265T>G | No | 99999 | No | 480 | Yes | 0 | 18 |
12:51721579-51721579 | COSM4147170 | SCN8A | ENST00000354534 | p.S557P | c.1669T>C | No | 99999 | No | 146 | Yes | 0 | 18 |
12:51721579-51721579 | COSM4147171 | SCN8A_ENST00000354534 | ENST00000354534 | p.S557P | c.1669T>C | No | 99999 | No | 146 | Yes | 0 | 18 |
12:6775485-6775485 | COSM4147419 | LAG3 | ENST00000203629 | p.T332P | c.994A>C | No | 99999 | No | 120 | Yes | 0 | 29 |
12:79217594-79217594 | COSM4147474 | SYT1 | ENST00000393240 | p.N25N | c.75C>T | No | 99999 | No | 33 | Yes | 0 | 23 |
13:25579812-25579812 | COSM4147669 | ATP8A2 | ENST00000381655 | p.L624F | c.1872G>T | No | 99999 | No | 243 | Yes | 0 | 25 |
14:18601430-18601430 | COSM4147945 | OR11H12 | ENST00000550708 | p.K105T | c.314A>C | No | 99999 | No | 7 | Yes | 0 | 23 |
14:18601835-18601835 | COSM4147948 | OR11H12 | ENST00000550708 | p.V240G | c.719T>G | No | 99999 | Yes | 0 | No | 22 | 11 |
15:43618242-43618242 | COSM4148780 | STRC_ENST00000450892 | ENST00000450892 | p.F60S | c.179T>C | No | 99999 | No | 33 | Yes | 0 | 10 |
6:29888222-29888222 | COSM4153200 | ENSG00000196306 | ENST00000360432 | p.G116A | c.347G>C | No | 99999 | No | 193 | Yes | 0 | 12 |
4:143880509-143880509 | COSM4155008 | GYPE | ENST00000358615 | p.G13A | c.38G>C | No | 99999 | Yes | 0 | No | 15 | 19 |
22:29265535-29265535 | COSM4156119 | RHBDD3 | ENST00000216085 | p.V31G | c.92T>G | No | 99999 | Yes | 0 | No | 4 | 24 |
23:119469779-119469779 | COSM4156552 | SLC25A5 | ENST00000317881 | p.N77T | c.230A>C | No | 99999 | No | 32 | Yes | 0 | 24 |
23:131083790-131083790 | COSM4156583 | ARHGAP36 | NM_144967.2 | p.T126P | c.376A>C | No | 99999 | No | 86 | Yes | 0 | 18 |
23:131083790-131083790 | COSM4156584 | ARHGAP36_ENST00000276211 | ENST00000276211 | p.T126P | c.376A>C | No | 99999 | No | 86 | Yes | 0 | 18 |
23:139956343-139956343 | COSM4156621 | CXorf66 | ENST00000370540 | p.F213L | c.639C>A | No | 99999 | No | 143 | Yes | 0 | 16 |
23:151954718-151954718 | COSM4156661 | GABRE_ENST00000370328 | ENST00000370328 | p.V502F | c.1504G>T | No | 99999 | Yes | 0 | No | 3 | 15 |
23:151954718-151954718 | COSM4156662 | GABRE | NM_021990 | p.V389F | c.1165G>T | No | 99999 | Yes | 0 | No | 3 | 15 |
3:102462356-102462356 | COSM4157107 | ZPLD1 | ENST00000306176 | p.Q236K | c.706C>A | No | 99999 | No | 154 | Yes | 0 | 19 |
3:194460719-194460719 | COSM4157515 | ATP13A3 | ENST00000256031 | p.V55G | c.164T>G | No | 99999 | No | 4 | Yes | 0 | 16 |
3:195779396-195779396 | COSM4157558 | MUC4_ENST00000463781 | ENST00000463781 | p.A4062T | c.12184G>A | No | 99999 | No | 1310 | Yes | 0 | 16 |
3:195779431-195779431 | COSM4157564 | MUC4_ENST00000463781 | ENST00000463781 | p.P4050H | c.12149C>A | No | 99999 | No | 1322 | Yes | 0 | 10 |
3:195779447-195779447 | COSM4157566 | MUC4_ENST00000463781 | ENST00000463781 | p.D4045H | c.12133G>C | No | 99999 | No | 1327 | Yes | 0 | 19 |
3:195779483-195779483 | COSM4157567 | MUC4_ENST00000463781 | ENST00000463781 | p.V4033L | c.12097G>C | No | 99999 | No | 1339 | Yes | 0 | 20 |
3:195779554-195779554 | COSM4157570 | MUC4_ENST00000463781 | ENST00000463781 | p.V4009A | c.12026T>C | No | 99999 | No | 1363 | Yes | 0 | 12 |
3:195779662-195779662 | COSM4157584 | MUC4_ENST00000463781 | ENST00000463781 | p.S3973I | c.11918G>T | No | 99999 | No | 1399 | Yes | 0 | 14 |
3:195780082-195780082 | COSM4157593 | MUC4_ENST00000463781 | ENST00000463781 | p.A3833V | c.11498C>T | No | 99999 | No | 1539 | Yes | 0 | 13 |
3:195780226-195780226 | COSM4157603 | MUC4_ENST00000463781 | ENST00000463781 | p.A3785V | c.11354C>T | No | 99999 | No | 1587 | Yes | 0 | 10 |
3:195780541-195780541 | COSM4157611 | MUC4_ENST00000463781 | ENST00000463781 | p.R3680P | c.11039G>C | No | 99999 | No | 1692 | Yes | 0 | 21 |
3:195780823-195780823 | COSM4157618 | MUC4_ENST00000463781 | ENST00000463781 | p.L3586P | c.10757T>C | No | 99999 | No | 1786 | Yes | 0 | 19 |
3:195781790-195781790 | COSM4157645 | MUC4_ENST00000463781 | ENST00000463781 | p.S3264P | c.9790T>C | No | 99999 | No | 2108 | Yes | 0 | 15 |
3:195782644-195782644 | COSM4157666 | MUC4_ENST00000463781 | ENST00000463781 | p.D2979V | c.8936A>T | No | 99999 | No | 2393 | Yes | 0 | 24 |
3:195782702-195782702 | COSM4157667 | MUC4_ENST00000463781 | ENST00000463781 | p.S2960P | c.8878T>C | No | 99999 | No | 2412 | Yes | 0 | 12 |
3:195782885-195782885 | COSM4157674 | MUC4_ENST00000463781 | ENST00000463781 | p.L2899V | c.8695C>G | No | 99999 | No | 2473 | Yes | 0 | 12 |
3:195783223-195783223 | COSM4157689 | MUC4_ENST00000463781 | ENST00000463781 | p.H2786P | c.8357A>C | No | 99999 | No | 2586 | Yes | 0 | 10 |
3:195783250-195783250 | COSM4157691 | MUC4_ENST00000463781 | ENST00000463781 | p.V2777A | c.8330T>C | No | 99999 | No | 2595 | Yes | 0 | 10 |
3:195783298-195783298 | COSM4157693 | MUC4_ENST00000463781 | ENST00000463781 | p.A2761V | c.8282C>T | No | 99999 | No | 2611 | Yes | 0 | 17 |
3:195783439-195783439 | COSM4157695 | MUC4_ENST00000463781 | ENST00000463781 | p.Y2714S | c.8141A>C | No | 99999 | No | 2658 | Yes | 0 | 19 |
3:195783518-195783518 | COSM4157704 | MUC4_ENST00000463781 | ENST00000463781 | p.S2688P | c.8062T>C | No | 99999 | No | 2684 | Yes | 0 | 25 |
3:195783525-195783525 | COSM4157706 | MUC4_ENST00000463781 | ENST00000463781 | p.H2685Q | c.8055T>G | No | 99999 | No | 2687 | Yes | 0 | 21 |
3:195783621-195783621 | COSM4157712 | MUC4_ENST00000463781 | ENST00000463781 | p.Q2653H | c.7959G>C | No | 99999 | No | 2719 | Yes | 0 | 13 |
3:195783730-195783730 | COSM4157723 | MUC4_ENST00000463781 | ENST00000463781 | p.V2617A | c.7850T>C | No | 99999 | No | 2755 | Yes | 0 | 22 |
3:195783739-195783739 | COSM4157724 | MUC4_ENST00000463781 | ENST00000463781 | p.L2614P | c.7841T>C | No | 99999 | No | 2758 | Yes | 0 | 26 |
3:195783740-195783740 | COSM4157725 | MUC4_ENST00000463781 | ENST00000463781 | p.L2614I | c.7840C>A | No | 99999 | No | 2758 | Yes | 0 | 23 |
3:195783742-195783742 | COSM4157726 | MUC4_ENST00000463781 | ENST00000463781 | p.S2613N | c.7838G>A | No | 99999 | No | 2759 | Yes | 0 | 24 |
3:195783743-195783743 | COSM4157727 | MUC4_ENST00000463781 | ENST00000463781 | p.S2613G | c.7837A>G | No | 99999 | No | 2759 | Yes | 0 | 23 |
3:195783765-195783765 | COSM4157730 | MUC4_ENST00000463781 | ENST00000463781 | p.Q2605H | c.7815G>C | No | 99999 | No | 2767 | Yes | 0 | 11 |
3:195783784-195783784 | COSM4157732 | MUC4_ENST00000463781 | ENST00000463781 | p.Y2599S | c.7796A>C | No | 99999 | No | 2773 | Yes | 0 | 25 |
3:195783874-195783874 | COSM4157738 | MUC4_ENST00000463781 | ENST00000463781 | p.A2569V | c.7706C>T | No | 99999 | No | 2803 | Yes | 0 | 24 |
3:195783878-195783878 | COSM4157740 | MUC4_ENST00000463781 | ENST00000463781 | p.A2568S | c.7702G>T | No | 99999 | No | 2804 | Yes | 0 | 24 |
3:195784231-195784231 | COSM4157758 | MUC4_ENST00000463781 | ENST00000463781 | p.P2450L | c.7349C>T | No | 99999 | No | 2922 | Yes | 0 | 10 |
3:195785374-195785374 | COSM4157802 | MUC4_ENST00000463781 | ENST00000463781 | p.N2069S | c.6206A>G | No | 99999 | No | 3303 | Yes | 0 | 24 |
3:195786512-195786512 | COSM4157850 | MUC4_ENST00000463781 | ENST00000463781 | p.T1690S | c.5068A>T | No | 99999 | No | 3682 | Yes | 0 | 10 |
3:195786809-195786809 | COSM4157857 | MUC4_ENST00000463781 | ENST00000463781 | p.S1591T | c.4771T>A | No | 99999 | No | 3781 | Yes | 0 | 16 |
3:195787508-195787508 | COSM4157871 | MUC4_ENST00000463781 | ENST00000463781 | p.T1358A | c.4072A>G | No | 99999 | No | 4014 | Yes | 0 | 16 |
3:195787699-195787699 | COSM4157875 | MUC4_ENST00000463781 | ENST00000463781 | p.V1294A | c.3881T>C | No | 99999 | No | 4078 | Yes | 0 | 10 |
3:195787991-195787991 | COSM4157893 | MUC4_ENST00000463781 | ENST00000463781 | p.H1197D | c.3589C>G | No | 99999 | No | 4175 | Yes | 0 | 10 |
3:195788002-195788002 | COSM4157895 | MUC4_ENST00000463781 | ENST00000463781 | p.A1193V | c.3578C>T | No | 99999 | No | 4179 | Yes | 0 | 11 |
3:195788467-195788467 | COSM4157919 | MUC4_ENST00000463781 | ENST00000463781 | p.V1038A | c.3113T>C | No | 99999 | No | 4334 | Yes | 0 | 15 |
3:4684285-4684285 | COSM4158079 | ITPR1_ENST00000302640 | ENST00000302640 | p.G1153E | c.3458G>A | No | 99999 | No | 1115 | Yes | 0 | 24 |
3:4684285-4684285 | COSM4158080 | ITPR1_ENST00000357086 | ENST00000357086 | p.G1159E | c.3476G>A | No | 99999 | No | 1076 | Yes | 0 | 24 |
3:4684285-4684285 | COSM4158081 | ITPR1 | ENST00000456211 | p.G1144E | c.3431G>A | No | 99999 | No | 1076 | Yes | 0 | 24 |
3:4684292-4684292 | COSM4158085 | ITPR1_ENST00000302640 | ENST00000302640 | p.N1155K | c.3465C>A | No | 99999 | No | 1113 | Yes | 0 | 13 |
3:4684292-4684292 | COSM4158086 | ITPR1_ENST00000357086 | ENST00000357086 | p.N1161K | c.3483C>A | No | 99999 | No | 1074 | Yes | 0 | 13 |
3:4684292-4684292 | COSM4158087 | ITPR1 | ENST00000456211 | p.N1146K | c.3438C>A | No | 99999 | No | 1074 | Yes | 0 | 13 |
3:52786965-52786965 | COSM4158224 | ITIH1 | ENST00000273283 | p.E585V | c.1754A>T | No | 99999 | No | 554 | Yes | 0 | 14 |
3:52786995-52786995 | COSM4158225 | ITIH1 | ENST00000273283 | p.Q595R | c.1784A>G | No | 99999 | No | 564 | Yes | 0 | 17 |
4:143880509-143880509 | COSM4158833 | GYPE | ENST00000358615 | p.G13E | c.38G>A | No | 99999 | Yes | 0 | No | 15 | 10 |
4:7733328-7733328 | COSM4159198 | SORCS2_ENST00000507866 | ENST00000507866 | p.A1039P | c.3115G>C | No | 99999 | No | 39 | Yes | 0 | 15 |
4:7733328-7733328 | COSM4159199 | SORCS2 | NM_020777.1 | p.A889P | c.2665G>C | No | 99999 | No | 39 | Yes | 0 | 15 |
4:7733328-7733328 | COSM4159200 | SORCS2_ENST00000329016 | ENST00000329016 | p.A867P | c.2599G>C | No | 99999 | No | 39 | Yes | 0 | 15 |
5:132370231-132370231 | COSM4159398 | SLC22A5 | ENST00000245407 | p.A87P | c.259G>C | No | 99999 | No | 44 | Yes | 0 | 17 |
5:132370231-132370231 | COSM4159399 | SLC22A5_ENST00000435065 | ENST00000435065 | p.A87P | c.259G>C | No | 99999 | No | 44 | Yes | 0 | 17 |
5:140834796-140834796 | COSM4159481 | PCDHA7 | ENST00000378125 | p.R138K | c.413G>A | No | 99999 | No | 558 | Yes | 0 | 20 |
5:150078115-150078115 | COSM4159635 | CSF1R | ENST00000286301 | p.T242T | c.726C>T | No | 99999 | No | 273 | Yes | 0 | 21 |
6:17602632-17602632 | COSM4160386 | FAM8A1 | ENST00000259963 | p.A252V | c.755C>T | No | 99999 | No | 3 | Yes | 0 | 12 |
6:29942923-29942923 | COSM4160502 | HLA-A | ENST00000396634 | p.G80G | c.240G>T | No | 99999 | No | 228 | Yes | 0 | 11 |
6:29943377-29943377 | COSM4160517 | HLA-A | ENST00000396634 | p.N151K | c.453C>A | No | 99999 | No | 157 | Yes | 0 | 19 |
6:29944193-29944193 | COSM4160529 | HLA-A | ENST00000396634 | p.G231S | c.691G>A | No | 99999 | No | 77 | Yes | 0 | 14 |
6:29944503-29944503 | COSM4160531 | HLA-A | ENST00000396634 | p.L300P | c.899T>C | No | 99999 | No | 8 | Yes | 0 | 15 |
6:29944571-29944571 | COSM4160534 | HLA-A | ENST00000396634 | p.T323A | c.967A>G | No | 99999 | Yes | 0 | No | 16 | 10 |
6:29944591-29944591 | COSM4160535 | HLA-A | ENST00000396634 | p.A329A | c.987C>T | No | 99999 | Yes | 0 | No | 22 | 21 |
6:31270214-31270214 | COSM4160718 | HLA-C | ENST00000376228 | p.S297R | c.891C>A | No | 99999 | No | 9 | Yes | 0 | 14 |
6:31270214-31270214 | COSM4160719 | HLA-C_ENST00000539307 | ENST00000539307 | p.S334R | c.1002C>A | No | 99999 | No | 9 | Yes | 0 | 14 |
6:31270214-31270214 | COSM4160720 | HLA-C_ENST00000383329 | ENST00000383329 | p.S297R | c.891C>A | No | 99999 | No | 9 | Yes | 0 | 14 |
6:31271153-31271153 | COSM4160734 | HLA-C_ENST00000539307 | ENST00000539307 | p.L217R | c.650T>G | No | 99999 | No | 126 | Yes | 0 | 15 |
6:31271180-31271180 | COSM4160742 | HLA-C | ENST00000376228 | p.L171W | c.512T>G | No | 99999 | No | 135 | Yes | 0 | 22 |
6:31271180-31271180 | COSM4160743 | HLA-C_ENST00000539307 | ENST00000539307 | p.L208W | c.623T>G | No | 99999 | No | 135 | Yes | 0 | 22 |
6:31271180-31271180 | COSM4160744 | HLA-C_ENST00000383329 | ENST00000383329 | p.L171W | c.512T>G | No | 99999 | No | 135 | Yes | 0 | 22 |
6:31271337-31271337 | COSM4160760 | HLA-C_ENST00000539307 | ENST00000539307 | p.L156I | c.466C>A | No | 99999 | No | 187 | Yes | 0 | 14 |
6:31271601-31271601 | COSM4160761 | HLA-C | ENST00000376228 | p.D114A | c.341A>C | No | 99999 | No | 192 | Yes | 0 | 18 |
6:31271601-31271601 | COSM4160762 | HLA-C_ENST00000539307 | ENST00000539307 | p.D151A | c.452A>C | No | 99999 | No | 192 | Yes | 0 | 18 |
6:31271601-31271601 | COSM4160763 | HLA-C_ENST00000383329 | ENST00000383329 | p.D114A | c.341A>C | No | 99999 | No | 192 | Yes | 0 | 18 |
6:31355338-31355338 | COSM4160788 | HLA-B | ENST00000412585 | p.K292E | c.874A>G | No | 99999 | No | 16 | Yes | 0 | 16 |
6:31356259-31356259 | COSM4160793 | HLA-B | ENST00000412585 | p.E176V | c.527A>T | No | 99999 | No | 132 | Yes | 0 | 26 |
6:31356826-31356826 | COSM4160819 | HLA-B | ENST00000412585 | p.E69K | c.205G>A | No | 99999 | No | 239 | Yes | 0 | 14 |
6:31356866-31356866 | COSM4160823 | HLA-B | ENST00000412585 | p.T55T | c.165C>G | No | 99999 | No | 253 | Yes | 0 | 12 |
6:31357154-31357154 | COSM4160825 | HLA-B | ENST00000412585 | p.L2R | c.5T>G | No | 99999 | No | 306 | Yes | 0 | 19 |
6:32519376-32519376 | COSM4160943 | HLA-DRB5 | ENST00000374975 | p.E216Q | c.646G>C | No | 99999 | No | 12 | Yes | 0 | 12 |
6:32581811-32581811 | COSM4160963 | HLA-DRB1 | ENST00000360004 | p.S133L | c.398C>T | No | 99999 | No | 95 | Yes | 0 | 13 |
6:32584135-32584135 | COSM4160964 | HLA-DRB1 | ENST00000360004 | p.V115G | c.344T>G | No | 99999 | No | 113 | Yes | 0 | 12 |
6:32584151-32584151 | COSM4160966 | HLA-DRB1 | ENST00000360004 | p.H110Y | c.328C>T | No | 99999 | No | 118 | Yes | 0 | 10 |
6:32584171-32584171 | COSM4160967 | HLA-DRB1 | ENST00000360004 | p.A103E | c.308C>A | No | 99999 | No | 125 | Yes | 0 | 11 |
6:32589658-32589658 | COSM4160979 | HLA-DRB1 | ENST00000360004 | p.S29A | c.85T>G | No | 99999 | No | 199 | Yes | 0 | 20 |
6:32589702-32589702 | COSM4160980 | HLA-DRB1 | ENST00000360004 | p.A14V | c.41C>T | No | 99999 | No | 214 | Yes | 0 | 14 |
6:32589706-32589706 | COSM4160981 | HLA-DRB1 | ENST00000360004 | p.T13A | c.37A>G | No | 99999 | No | 215 | Yes | 0 | 20 |
6:32589729-32589729 | COSM4160983 | HLA-DRB1 | ENST00000360004 | p.K5R | c.14A>G | No | 99999 | No | 223 | Yes | 0 | 20 |
6:32642232-32642232 | COSM4161006 | HLA-DQA1 | ENST00000374949 | p.Q198K | c.592C>A | No | 99999 | No | 20 | Yes | 0 | 13 |
6:32665005-32665005 | COSM4161023 | HLA-DQB1 | ENST00000399084 | p.L58F | c.172C>T | No | 99999 | No | 174 | Yes | 0 | 10 |
6:32759026-32759026 | COSM4161032 | HLA-DQB2_ENST00000435145 | ENST00000435145 | p.R157Q | c.470G>A | No | 99999 | No | 70 | Yes | 0 | 23 |
6:33080851-33080851 | COSM4161053 | HLA-DPB1 | ENST00000418931 | p.I94L | c.280A>C | No | 99999 | No | 132 | Yes | 0 | 11 |
6:33080886-33080886 | COSM4161055 | HLA-DPB1 | ENST00000418931 | p.M105I | c.315G>A | No | 99999 | No | 121 | Yes | 0 | 15 |
6:69796836-69796836 | COSM4161314 | LMBRD1 | ENST00000370577 | p.C16G | c.46T>G | No | 99999 | Yes | 0 | No | 7 | 12 |
7:100969671-100969671 | COSM4161540 | MUC12 | ENST00000536621 | p.V17I | c.49G>A | No | 99999 | No | 5221 | Yes | 0 | 23 |
7:100969671-100969671 | COSM4161541 | MUC12_ENST00000379442 | ENST00000379442 | p.V17I | c.49G>A | No | 99999 | No | 5364 | Yes | 0 | 23 |
7:100969680-100969680 | COSM4161542 | MUC12 | ENST00000536621 | p.V20L | c.58G>C | No | 99999 | No | 5218 | Yes | 0 | 23 |
7:100969680-100969680 | COSM4161543 | MUC12_ENST00000379442 | ENST00000379442 | p.V20L | c.58G>C | No | 99999 | No | 5361 | Yes | 0 | 23 |
7:100993127-100993127 | COSM4161563 | MUC12 | ENST00000536621 | p.R855H | c.2564G>A | No | 99999 | No | 4383 | Yes | 0 | 16 |
7:100993127-100993127 | COSM4161564 | MUC12_ENST00000379442 | ENST00000379442 | p.R998H | c.2993G>A | No | 99999 | No | 4383 | Yes | 0 | 16 |
7:100994057-100994057 | COSM4161572 | MUC12 | ENST00000536621 | p.R1165P | c.3494G>C | No | 99999 | No | 4073 | Yes | 0 | 10 |
7:100994057-100994057 | COSM4161573 | MUC12_ENST00000379442 | ENST00000379442 | p.R1308P | c.3923G>C | No | 99999 | No | 4073 | Yes | 0 | 10 |
7:100994324-100994324 | COSM4161574 | MUC12_ENST00000379442 | ENST00000379442 | p.K1397T | c.4190A>C | No | 99999 | No | 3984 | Yes | 0 | 10 |
7:100995731-100995731 | COSM4161580 | MUC12 | ENST00000536621 | p.T1723I | c.5168C>T | No | 99999 | No | 3515 | Yes | 0 | 21 |
7:100995731-100995731 | COSM4161581 | MUC12_ENST00000379442 | ENST00000379442 | p.T1866I | c.5597C>T | No | 99999 | No | 3515 | Yes | 0 | 21 |
7:100995768-100995768 | COSM4161584 | MUC12 | ENST00000536621 | p.L1735F | c.5205G>C | No | 99999 | No | 3503 | Yes | 0 | 22 |
7:100995768-100995768 | COSM4161585 | MUC12_ENST00000379442 | ENST00000379442 | p.L1878F | c.5634G>C | No | 99999 | No | 3503 | Yes | 0 | 22 |
7:100995773-100995773 | COSM4161586 | MUC12 | ENST00000536621 | p.R1737H | c.5210G>A | No | 99999 | No | 3501 | Yes | 0 | 17 |
7:100995773-100995773 | COSM4161587 | MUC12_ENST00000379442 | ENST00000379442 | p.R1880H | c.5639G>A | No | 99999 | No | 3501 | Yes | 0 | 17 |
7:101002244-101002244 | COSM4161597 | MUC12 | ENST00000536621 | p.K3894T | c.11681A>C | No | 99999 | No | 1344 | Yes | 0 | 17 |
7:101002244-101002244 | COSM4161598 | MUC12_ENST00000379442 | ENST00000379442 | p.K4037T | c.12110A>C | No | 99999 | No | 1344 | Yes | 0 | 17 |
7:101002774-101002774 | COSM4161599 | MUC12 | ENST00000536621 | p.T4071A | c.12211A>G | No | 99999 | No | 1167 | Yes | 0 | 14 |
7:101002774-101002774 | COSM4161600 | MUC12_ENST00000379442 | ENST00000379442 | p.T4214A | c.12640A>G | No | 99999 | No | 1167 | Yes | 0 | 14 |
7:101003240-101003240 | COSM4161609 | MUC12 | ENST00000536621 | p.M4226T | c.12677T>C | No | 99999 | No | 1012 | Yes | 0 | 17 |
7:101003240-101003240 | COSM4161610 | MUC12_ENST00000379442 | ENST00000379442 | p.M4369T | c.13106T>C | No | 99999 | No | 1012 | Yes | 0 | 17 |
7:101004095-101004095 | COSM4161615 | MUC12 | ENST00000536621 | p.T4511I | c.13532C>T | No | 99999 | No | 727 | Yes | 0 | 21 |
7:101004095-101004095 | COSM4161616 | MUC12_ENST00000379442 | ENST00000379442 | p.T4654I | c.13961C>T | No | 99999 | No | 727 | Yes | 0 | 21 |
7:101004230-101004230 | COSM4161621 | MUC12 | ENST00000536621 | p.T4556I | c.13667C>T | No | 99999 | No | 682 | Yes | 0 | 21 |
7:101004230-101004230 | COSM4161622 | MUC12_ENST00000379442 | ENST00000379442 | p.T4699I | c.14096C>T | No | 99999 | No | 682 | Yes | 0 | 21 |
7:101004272-101004272 | COSM4161625 | MUC12 | ENST00000536621 | p.R4570H | c.13709G>A | No | 99999 | No | 668 | Yes | 0 | 19 |
7:101004272-101004272 | COSM4161626 | MUC12_ENST00000379442 | ENST00000379442 | p.R4713H | c.14138G>A | No | 99999 | No | 668 | Yes | 0 | 19 |
7:101004313-101004313 | COSM4161627 | MUC12 | ENST00000536621 | p.T4584P | c.13750A>C | No | 99999 | No | 654 | Yes | 0 | 20 |
7:101004313-101004313 | COSM4161628 | MUC12_ENST00000379442 | ENST00000379442 | p.T4727P | c.14179A>C | No | 99999 | No | 654 | Yes | 0 | 20 |
7:101004365-101004365 | COSM4161630 | MUC12_ENST00000379442 | ENST00000379442 | p.E4744G | c.14231A>G | No | 99999 | No | 637 | Yes | 0 | 17 |
7:117548682-117548682 | COSM4161731 | CFTR | ENST00000003084 | p.N417K | c.1251C>A | No | 99999 | No | 91 | Yes | 0 | 23 |
7:128030274-128030274 | COSM4161763 | LRRC4 | ENST00000249363 | p.A123P | c.367G>C | No | 99999 | No | 84 | Yes | 0 | 28 |
7:144318627-144318627 | COSM4161921 | OR2A1 | ENST00000408951 | p.S168C | c.503C>G | No | 99999 | No | 6 | Yes | 0 | 25 |
7:156640549-156640549 | COSM4162049 | C7orf13 | ENST00000333319 | p.A36P | c.106G>C | No | 99999 | No | 140 | Yes | 0 | 10 |
7:72942884-72942884 | COSM4162387 | POM121_ENST00000434423 | ENST00000434423 | p.P964L | c.2891C>T | No | 99999 | No | 907 | Yes | 0 | 13 |
7:95405463-95405463 | COSM4162510 | PON2_ENST00000536183 | ENST00000536183 | p.S332C | c.995C>G | No | 99999 | No | 289 | Yes | 0 | 17 |
8:11332026-11332026 | COSM4162601 | AMAC1L2 | ENST00000382435 | p.L307P | c.920T>C | No | 99999 | No | 4 | Yes | 0 | 16 |
9:104599158-104599158 | COSM4163181 | OR13C5 | ENST00000374779 | p.L86V | c.256C>G | No | 99999 | No | 3 | Yes | 0 | 17 |
9:104599179-104599179 | COSM4163183 | OR13C5 | ENST00000374779 | p.P79S | c.235C>T | No | 99999 | Yes | 0 | No | 5 | 17 |
9:104599209-104599209 | COSM4163184 | OR13C5 | ENST00000374779 | p.L69M | c.205T>A | No | 99999 | Yes | 0 | No | 15 | 18 |
9:122750491-122750491 | COSM4163307 | OR1L6 | ENST00000373684 | p.I251T | c.752T>C | No | 99999 | Yes | 0 | No | 17 | 24 |
9:122750509-122750509 | COSM4163308 | OR1L6 | ENST00000373684 | p.R257Q | c.770G>A | No | 99999 | Yes | 0 | No | 23 | 23 |
9:33386169-33386169 | COSM4163742 | AQP7 | ENST00000297988 | p.Q145E | c.433C>G | No | 99999 | No | 7 | Yes | 0 | 16 |
9:33386169-33386169 | COSM4163743 | AQP7_ENST00000539936 | ENST00000539936 | p.Q145E | c.433C>G | No | 99999 | Yes | 0 | No | 7 | 16 |
9:33386169-33386169 | COSM4163744 | AQP7_ENST00000379503 | ENST00000379503 | p.Q81E | c.241C>G | No | 99999 | Yes | 0 | No | 19 | 16 |
9:33386512-33386512 | COSM4163746 | AQP7_ENST00000379503 | ENST00000379503 | p.A36T | c.106G>A | No | 99999 | No | 12 | Yes | 0 | 24 |
9:33386512-33386512 | COSM4163747 | AQP7_ENST00000541274 | ENST00000541274 | p.A8T | c.22G>A | No | 99999 | No | 12 | Yes | 0 | 24 |
9:34725745-34725745 | COSM4163808 | FAM205A | ENST00000378788 | p.M499V | c.1495A>G | No | 99999 | No | 470 | Yes | 0 | 18 |
9:34725745-34725745 | COSM4163809 | FAM205A_ENST00000378788 | ENST00000378788 | p.M499V | c.1495A>G | No | 99999 | No | 470 | Yes | 0 | 18 |
9:41991721-41991721 | COSM4163893 | CNTNAP3B | ENST00000377564 | p.L408F | c.1222C>T | No | 99999 | No | 836 | Yes | 0 | 14 |
9:41970126-41970126 | COSM4163894 | CNTNAP3B | ENST00000377564 | p.A533S | c.1597G>T | No | 99999 | No | 711 | Yes | 0 | 15 |
9:41938253-41938253 | COSM4163896 | CNTNAP3B | ENST00000377564 | p.Q743R | c.2228A>G | No | 99999 | No | 501 | Yes | 0 | 13 |
12:11030907-11030907 | COSM4203179 | TAS2R31 | ENST00000390675 | p.Q143H | c.429A>T | No | 99999 | Yes | 0 | No | 5 | 22 |
12:11134208-11134208 | COSM4203353 | TAS2R30 | ENST00000539585 | p.I13V | c.37A>G | No | 99999 | Yes | 0 | No | 10 | 20 |
1:225412636-225412636 | COSM4232590 | LBR | ENST00000272163 | p.A301V | c.902C>T | No | 99999 | Yes | 0 | No | 18 | 10 |
16:68361261-68361261 | COSM4261538 | SMPD3 | ENST00000219334 | p.D638A | c.1913A>C | No | 99999 | No | 559 | Yes | 0 | 15 |
16:70177296-70177296 | COSM4261680 | CLEC18C | ENST00000314151 | p.I91T | c.272T>C | Yes | 0 | No | 99999 | No | 99999 | 11 |
17:46549407-46549407 | COSM4268012 | LRRC37A2 | ENST00000333412 | p.H1423P | c.4268A>C | No | 99999 | No | 159 | Yes | 0 | 11 |
17:9239727-9239727 | COSM4273795 | NTN1 | ENST00000173229 | p.T525R | c.1574C>G | No | 99999 | No | 503 | Yes | 0 | 15 |
19:35939477-35939477 | COSM4281943 | LRFN3 | ENST00000246529 | p.S18P | c.52T>C | No | 99999 | No | 519 | Yes | 0 | 11 |
20:17659235-17659235 | COSM4289781 | RRBP1_ENST00000377813 | ENST00000377813 | p.A425T | c.1273G>A | No | 99999 | No | 394 | Yes | 0 | 17 |
20:1915317-1915317 | COSM4289933 | SIRPA_ENST00000400068 | ENST00000400068 | p.N100D | c.298A>G | No | 99999 | No | 272 | Yes | 0 | 14 |
20:1915319-1915319 | COSM4289934 | SIRPA_ENST00000400068 | ENST00000400068 | p.N100K | c.300C>A | No | 99999 | No | 272 | Yes | 0 | 14 |
3:195786523-195786523 | COSM4322704 | MUC4_ENST00000463781 | ENST00000463781 | p.L1686H | c.5057T>A | No | 99999 | No | 3686 | Yes | 0 | 12 |
3:195786524-195786524 | COSM4322706 | MUC4_ENST00000463781 | ENST00000463781 | p.L1686I | c.5056C>A | No | 99999 | No | 3686 | Yes | 0 | 16 |
3:195787559-195787559 | COSM4322829 | MUC4_ENST00000463781 | ENST00000463781 | p.D1341H | c.4021G>C | No | 99999 | No | 4031 | Yes | 0 | 14 |
3:50338002-50338002 | COSM4325335 | RASSF1 | ENST00000357043 | p.F91S | c.272T>C | Yes | 0 | No | 99999 | No | 99999 | 17 |
4:102905528-102905528 | COSM4328494 | NHEDC1 | ENST00000296422 | p.K440* | c.1318A>T | No | 99999 | Yes | 0 | No | 15 | 20 |
9:33386148-33386148 | COSM4333171 | AQP7_ENST00000379507 | ENST00000379507 | p.V151F | c.451G>T | No | 99999 | No | 14 | Yes | 0 | 17 |
1:204954905-204954905 | COSM4335049 | NFASC_ENST00000367172 | ENST00000367172 | p.P165fs*12 | c.489delC | No | 99999 | No | 1051 | Yes | 0 | 13 |
1:204954905-204954905 | COSM4335050 | NFASC_ENST00000367171 | ENST00000367171 | p.P165fs*12 | c.489delC | No | 99999 | No | 1036 | Yes | 0 | 13 |
6:29943463-29943463 | COSM4353750 | HLA-A_ENST00000376806 | ENST00000376806 | p.L180* | c.539T>A | No | 99999 | No | 126 | Yes | 0 | 10 |
6:32522075-32522075 | COSM4406964 | HLA-DRB5 | ENST00000374975 | p.L67S | c.200T>C | No | 99999 | No | 161 | Yes | 0 | 11 |
9:41991627-41991627 | COSM4406981 | CNTNAP3B | ENST00000377564 | p.P439L | c.1316C>T | No | 99999 | No | 805 | Yes | 0 | 14 |
6:31356377-31356377 | COSM4407006 | HLA-B | ENST00000412585 | p.H137Y | c.409C>T | No | 99999 | No | 171 | Yes | 0 | 13 |
6:29943451-29943451 | COSM4407149 | HLA-A_ENST00000376806 | ENST00000376806 | p.E176V | c.527A>T | No | 99999 | No | 130 | Yes | 0 | 18 |
6:33080829-33080829 | COSM4407189 | HLA-DPB1 | ENST00000418931 | p.E86D | c.258G>C | No | 99999 | No | 140 | Yes | 0 | 10 |
3:184354565-184354565 | COSM4410567 | CLCN2 | ENST00000265593 | p.G498fs*14 | c.1490delG | No | 99999 | Yes | 0 | No | 10 | 10 |
9:133108853-133108853 | COSM4410573 | RALGDS_ENST00000542690 | ENST00000542690 | p.I271V | c.811A>G | No | 99999 | No | 244 | Yes | 0 | 10 |
17:4789763-4789763 | COSM4411047 | GLTPD2 | ENST00000331264 | p.L115V | c.343C>G | No | 99999 | No | 83 | Yes | 0 | 11 |
19:49960725-49960725 | COSM4413040 | SIGLEC11 | ENST00000447370 | p.E96A | c.287A>C | No | 99999 | No | 466 | Yes | 0 | 13 |
7:100996175-100996175 | COSM4415245 | MUC12 | ENST00000536621 | p.T1871I | c.5612C>T | No | 99999 | No | 3367 | Yes | 0 | 15 |
7:100996175-100996175 | COSM4415246 | MUC12_ENST00000379442 | ENST00000379442 | p.T2014I | c.6041C>T | No | 99999 | No | 3367 | Yes | 0 | 15 |
17:64895953-64895953 | COSM4415420 | LRRC37A3 | ENST00000319651 | p.H435Q | c.1305C>G | No | 99999 | No | 1147 | Yes | 0 | 14 |
7:100991652-100991652 | COSM4415455 | MUC12 | ENST00000536621 | p.R363S | c.1089G>C | No | 99999 | No | 4875 | Yes | 0 | 13 |
7:100991652-100991652 | COSM4415456 | MUC12_ENST00000379442 | ENST00000379442 | p.R506S | c.1518G>C | No | 99999 | No | 4875 | Yes | 0 | 13 |
7:100996138-100996138 | COSM4415619 | MUC12 | ENST00000536621 | p.A1859T | c.5575G>A | No | 99999 | No | 3379 | Yes | 0 | 18 |
7:100996138-100996138 | COSM4415620 | MUC12_ENST00000379442 | ENST00000379442 | p.A2002T | c.6004G>A | No | 99999 | No | 3379 | Yes | 0 | 18 |
17:3729542-3729542 | COSM4415633 | ITGAE | ENST00000263087 | p.R950W | c.2848C>T | No | 99999 | No | 175 | Yes | 0 | 12 |
7:101000551-101000551 | COSM4415689 | MUC12 | ENST00000536621 | p.H3330D | c.9988C>G | No | 99999 | No | 1908 | Yes | 0 | 11 |
7:101000551-101000551 | COSM4415690 | MUC12_ENST00000379442 | ENST00000379442 | p.H3473D | c.10417C>G | No | 99999 | No | 1908 | Yes | 0 | 11 |
7:100996137-100996137 | COSM4415782 | MUC12 | ENST00000536621 | p.D1858E | c.5574C>A | No | 99999 | No | 3380 | Yes | 0 | 17 |
7:100996137-100996137 | COSM4415783 | MUC12_ENST00000379442 | ENST00000379442 | p.D2001E | c.6003C>A | No | 99999 | No | 3380 | Yes | 0 | 17 |
7:100995866-100995866 | COSM4415976 | MUC12 | ENST00000536621 | p.E1768G | c.5303A>G | No | 99999 | No | 3470 | Yes | 0 | 17 |
7:100995866-100995866 | COSM4415977 | MUC12_ENST00000379442 | ENST00000379442 | p.E1911G | c.5732A>G | No | 99999 | No | 3470 | Yes | 0 | 17 |
17:64896755-64896755 | COSM4416106 | LRRC37A3 | ENST00000319651 | p.H168R | c.503A>G | No | 99999 | No | 1414 | Yes | 0 | 15 |
17:64895871-64895871 | COSM4416155 | LRRC37A3 | ENST00000319651 | p.P463S | c.1387C>T | No | 99999 | No | 1119 | Yes | 0 | 15 |
7:101000809-101000809 | COSM4416261 | MUC12 | ENST00000536621 | p.A3416T | c.10246G>A | No | 99999 | No | 1822 | Yes | 0 | 10 |
7:101000809-101000809 | COSM4416262 | MUC12_ENST00000379442 | ENST00000379442 | p.A3559T | c.10675G>A | No | 99999 | No | 1822 | Yes | 0 | 10 |
4:54263911-54263911 | COSM4416371 | PDGFRA | ENST00000257290 | p.N204N | c.612T>C | No | 99999 | No | 175 | Yes | 0 | 10 |
11:124023281-124023281 | COSM4416630 | OR10G9 | ENST00000375024 | p.A90V | c.269C>T | No | 99999 | No | 7 | Yes | 0 | 10 |
9:33385692-33385692 | COSM4417861 | AQP7_ENST00000379507 | ENST00000379507 | p.R233S | c.697C>A | No | 99999 | No | 9 | Yes | 0 | 13 |
11:124015645-124015645 | COSM4419008 | OR10G4 | ENST00000320891 | p.L24P | c.71T>C | No | 99999 | No | 1 | Yes | 0 | 10 |
7:138917080-138917080 | COSM4419026 | KIAA1549_ENST00000422774 | ENST00000422774 | p.S849L | c.2546C>T | No | 99999 | No | 148 | Yes | 0 | 13 |
7:138917080-138917080 | COSM4419027 | KIAA1549_ENST00000242365 | ENST00000242365_v65 | p.S799L | c.2396C>T | No | 99999 | No | 148 | Yes | 0 | 13 |
19:41025751-41025751 | COSM4419058 | CYP2A7P1 | ENST00000301171 | p.Y163D | c.487T>G | No | 99999 | No | 142 | Yes | 0 | 12 |
7:138917671-138917671 | COSM4419610 | KIAA1549_ENST00000242365 | ENST00000242365_v65 | p.P602L | c.1805C>T | No | 99999 | No | 345 | Yes | 0 | 11 |
4:4237862-4237862 | COSM4428453 | TMEM128 | ENST00000254742 | p.V134I | c.400G>A | No | 99999 | Yes | 0 | No | 17 | 15 |
6:32642175-32642175 | COSM4431861 | HLA-DQA1 | ENST00000374949 | p.F179L | c.535T>C | No | 99999 | No | 39 | Yes | 0 | 15 |
5:141235930-141235932 | COSM4589956 | PCDHB18 | ENST00000274705 | p.V407delV | c.1217_1219delTCG | No | 99999 | No | 228 | Yes | 0 | 11 |
9:41970124-41970124 | COSM4589971 | CNTNAP3B | ENST00000377564 | p.L534fs*9 | c.1599delG | No | 99999 | No | 710 | Yes | 0 | 15 |
12:55129803-55129803 | COSM4589990 | OR9K2 | ENST00000305377 | p.L13fs*22 | c.35delT | No | 99999 | No | 35 | Yes | 0 | 10 |
5:157052547-157052561 | COSM4589994 | HAVCR1_ENST00000425854 | ENST00000425854 | p.M158_P162delMTTVP | c.473_487del15 | No | 99999 | No | 144 | Yes | 0 | 22 |
7:144129637-144129639 | COSM4590000 | OR2A14 | ENST00000408899 | p.F177delF | c.525_527delCTT | No | 99999 | No | 15 | Yes | 0 | 15 |
16:15128100-15128100 | COSM4590036 | NPIPP1 | ENST00000358815 | p.S347S | c.1041A>G | No | 99999 | No | 105 | Yes | 0 | 23 |
16:15128100-15128100 | COSM4590037 | NPIPP1_ENST00000358815 | ENST00000358815_v68 | p.S347S | c.1041A>G | No | 99999 | No | 105 | Yes | 0 | 23 |
10:133464689-133464689 | COSM4590041 | RP11-108K14.4 | ENST00000333815 | p.M685V | c.2053A>G | No | 29 | No | 218 | Yes | 0 | 22 |
3:195780716-195780716 | COSM4590052 | MUC4_ENST00000463781 | ENST00000463781 | p.T3622A | c.10864A>G | No | 99999 | No | 1750 | Yes | 0 | 11 |
3:57871663-57871663 | COSM4590075 | SLMAP | ENST00000295951 | p.D388G | c.1163A>G | No | 99999 | No | 396 | Yes | 0 | 10 |
3:57871663-57871663 | COSM4590076 | SLMAP_ENST00000428312 | ENST00000428312 | p.D405G | c.1214A>G | No | 99999 | No | 396 | Yes | 0 | 10 |
3:57871674-57871674 | COSM4590084 | SLMAP | ENST00000295951 | p.I392F | c.1174A>T | No | 99999 | No | 392 | Yes | 0 | 13 |
3:57871674-57871674 | COSM4590085 | SLMAP_ENST00000428312 | ENST00000428312 | p.I409F | c.1225A>T | No | 99999 | No | 392 | Yes | 0 | 13 |
11:5178430-5178430 | COSM4590099 | Q9H2C7_HUMAN | ENST00000321294 | p.T42A | c.124A>G | No | 99999 | Yes | 0 | No | 9 | 13 |
11:5178415-5178415 | COSM4590119 | Q9H2C7_HUMAN | ENST00000321294 | p.K47E | c.139A>G | No | 99999 | Yes | 0 | No | 14 | 13 |
5:141236161-141236161 | COSM4590125 | PCDHB18 | ENST00000274705 | p.H483R | c.1448A>G | No | 99999 | No | 152 | Yes | 0 | 10 |
17:46331889-46331889 | COSM4590131 | LRRC37A | ENST00000393466 | p.K1538E | c.4612A>G | No | 99999 | No | 44 | Yes | 0 | 12 |
5:150205462-150205462 | COSM4590137 | SLC6A7 | ENST00000230671 | p.M514L | c.1540A>C | No | 99999 | Yes | 0 | No | 9 | 23 |
16:87690086-87690086 | COSM4590162 | JPH3 | ENST00000284262 | p.T576A | c.1726A>G | No | 99999 | No | 149 | Yes | 0 | 11 |
9:33387049-33387049 | COSM4590166 | AQP7 | ENST00000297988 | p.K63T | c.188A>C | No | 99999 | No | 1 | Yes | 0 | 23 |
9:33387049-33387049 | COSM4590167 | AQP7_ENST00000379507 | ENST00000379507 | p.K62T | c.185A>C | No | 99999 | No | 1 | Yes | 0 | 23 |
9:33387049-33387049 | COSM4590168 | AQP7_ENST00000539936 | ENST00000539936 | p.K63T | c.188A>C | No | 99999 | No | 4 | Yes | 0 | 23 |
6:47656503-47656503 | COSM4590169 | GPR111_ENST00000296862 | ENST00000296862 | p.Y6C | c.17A>G | No | 99999 | No | 438 | Yes | 0 | 18 |
1:18482798-18482798 | COSM4590170 | KLHDC7A | ENST00000400664 | p.D606A | c.1817A>C | No | 99999 | No | 568 | Yes | 0 | 11 |
11:56700571-56700571 | COSM4590172 | OR9G1 | ENST00000312153 | p.T62A | c.184A>G | No | 99999 | Yes | 0 | No | 5 | 20 |
7:144232627-144232627 | COSM4590207 | OR2A42 | ENST00000391496 | p.T73A | c.217A>G | No | 99999 | No | 24 | Yes | 0 | 12 |
7:144318341-144318341 | COSM4590208 | OR2A1 | ENST00000408951 | p.T73A | c.217A>G | No | 99999 | No | 24 | Yes | 0 | 23 |
19:19261067-19261067 | COSM4590218 | HAPLN4 | ENST00000291481 | p.H77P | c.230A>C | No | 99999 | No | 48 | Yes | 0 | 15 |
5:132370234-132370234 | COSM4590235 | SLC22A5 | ENST00000245407 | p.T88P | c.262A>C | No | 99999 | No | 45 | Yes | 0 | 13 |
5:132370234-132370234 | COSM4590236 | SLC22A5_ENST00000435065 | ENST00000435065 | p.T88P | c.262A>C | No | 99999 | No | 45 | Yes | 0 | 13 |
12:42119108-42119108 | COSM4590255 | GXYLT1 | ENST00000398675 | p.R126S | c.378A>T | No | 99999 | No | 97 | Yes | 0 | 23 |
12:42119108-42119108 | COSM4590256 | Q8IXV1_HUMAN | ENST00000280876 | p.R95S | c.285A>T | No | 99999 | No | 66 | Yes | 0 | 23 |
17:21415640-21415640 | COSM4590267 | KCNJ12 | ENST00000331718 | p.I100V | c.298A>G | No | 99999 | Yes | 0 | No | 7 | 23 |
14:69320855-69320855 | COSM4590287 | GALNTL1 | ENST00000337827 | p.T108P | c.322A>C | No | 99999 | No | 82 | Yes | 0 | 13 |
14:69320855-69320855 | COSM4590288 | GALNT16 | ENST00000553669 | p.T108P | c.322A>C | No | 99999 | No | 82 | Yes | 0 | 13 |
17:81280660-81280660 | COSM4590290 | SLC38A10_ENST00000374759 | ENST00000374759 | p.E192G | c.575A>G | No | 99999 | No | 21 | Yes | 0 | 11 |
17:81280660-81280660 | COSM4590291 | SLC38A10 | ENST00000288439 | p.E192G | c.575A>G | No | 99999 | No | 21 | Yes | 0 | 11 |
11:56700722-56700722 | COSM4590301 | OR9G1 | ENST00000312153 | p.Y112C | c.335A>G | No | 99999 | Yes | 0 | No | 8 | 23 |
9:123363134-123363134 | COSM4590327 | CRB2 | ENST00000373631 | p.T122P | c.364A>C | No | 99999 | No | 87 | Yes | 0 | 12 |
9:123363134-123363134 | COSM4590328 | CRB2_ENST00000359999 | ENST00000359999 | p.T122P | c.364A>C | No | 99999 | No | 87 | Yes | 0 | 12 |
19:8904688-8904688 | COSM4590344 | MUC16_ENST00000397910 | ENST00000397910 | p.T12742S | c.38224A>T | No | 99999 | No | 1711 | Yes | 0 | 12 |
4:144120588-144120588 | COSM4590348 | GYPA | ENST00000360771 | p.E13A | c.38A>C | No | 99999 | Yes | 0 | No | 15 | 24 |
11:46875064-46875064 | COSM4590349 | LRP4 | ENST00000378623 | p.H1322P | c.3965A>C | No | 99999 | No | 402 | Yes | 0 | 22 |
23:101657549-101657549 | COSM4590354 | ARMCX2 | ENST00000330154 | p.I14V | c.40A>G | No | 99999 | Yes | 0 | No | 12 | 17 |
2:33727346-33727346 | COSM4590364 | AC093393.1 | ENST00000322472 | p.I144V | c.430A>G | No | 99999 | Yes | 0 | No | 17 | 20 |
15:101642591-101642591 | COSM4590367 | TM2D3 | ENST00000333202 | p.E211G | c.632A>G | No | 99999 | No | 5 | Yes | 0 | 17 |
12:11030897-11030897 | COSM4590368 | TAS2R31 | ENST00000390675 | p.I147V | c.439A>G | No | 99999 | Yes | 0 | No | 1 | 21 |
3:38698083-38698083 | COSM4590396 | SCN10A | ENST00000449082 | p.M1713V | c.5137A>G | No | 99999 | Yes | 0 | No | 7 | 23 |
3:195785315-195785315 | COSM4590454 | MUC4_ENST00000463781 | ENST00000463781 | p.I2089V | c.6265A>G | No | 99999 | No | 3283 | Yes | 0 | 25 |
12:42105961-42105961 | COSM4590455 | GXYLT1 | ENST00000398675 | p.I241V | c.721A>G | No | 99999 | No | 212 | Yes | 0 | 19 |
12:42105961-42105961 | COSM4590456 | Q8IXV1_HUMAN | ENST00000280876 | p.I210V | c.628A>G | No | 99999 | No | 181 | Yes | 0 | 19 |
3:195785236-195785236 | COSM4590457 | MUC4_ENST00000463781 | ENST00000463781 | p.D2115V | c.6344A>T | No | 99999 | No | 3257 | Yes | 0 | 25 |
3:195785171-195785171 | COSM4590458 | MUC4_ENST00000463781 | ENST00000463781 | p.T2137A | c.6409A>G | No | 99999 | No | 3235 | Yes | 0 | 23 |
3:195785133-195785133 | COSM4590461 | MUC4_ENST00000463781 | ENST00000463781 | p.E2149D | c.6447A>C | No | 99999 | No | 3223 | Yes | 0 | 23 |
12:42105936-42105936 | COSM4590468 | GXYLT1 | ENST00000398675 | p.E249G | c.746A>G | No | 99999 | No | 220 | Yes | 0 | 18 |
12:42105936-42105936 | COSM4590469 | Q8IXV1_HUMAN | ENST00000280876 | p.E218G | c.653A>G | No | 99999 | No | 189 | Yes | 0 | 18 |
3:195784943-195784943 | COSM4590470 | MUC4_ENST00000463781 | ENST00000463781 | p.S2213G | c.6637A>G | No | 99999 | No | 3159 | Yes | 0 | 17 |
9:33385237-33385237 | COSM4590534 | AQP7_ENST00000379507 | ENST00000379507 | p.Y265S | c.794A>C | No | 99999 | Yes | 0 | No | 13 | 18 |
12:57128971-57128971 | COSM4590536 | LRP1 | ENST00000243077 | p.T3P | c.7A>C | No | 99999 | No | 4418 | Yes | 0 | 13 |
12:11061483-11061483 | COSM4590538 | TAS2R46 | ENST00000533467 | p.Y271C | c.812A>G | No | 99999 | Yes | 0 | No | 12 | 13 |
12:11061483-11061483 | COSM4590539 | TAS2R46_ENST00000422992 | ENST00000422992 | p.Y271C | c.812A>G | No | 99999 | Yes | 0 | No | 12 | 13 |
19:46756499-46756499 | COSM4590609 | FKRP | ENST00000318584 | p.A350G | c.1049C>G | No | 99999 | No | 321 | Yes | 0 | 10 |
3:195779882-195779882 | COSM4590649 | MUC4_ENST00000463781 | ENST00000463781 | p.R3900G | c.11698C>G | No | 99999 | No | 1472 | Yes | 0 | 23 |
9:33386169-33386169 | COSM4590718 | AQP7_ENST00000379507 | ENST00000379507 | p.Q144E | c.430C>G | No | 99999 | No | 7 | Yes | 0 | 16 |
9:39118208-39118208 | COSM4590743 | CNTNAP3 | ENST00000297668 | p.S711Y | c.2132C>A | No | 99999 | No | 533 | Yes | 0 | 21 |
7:144232624-144232624 | COSM4590760 | OR2A42 | ENST00000391496 | p.R74C | c.220C>T | No | 99999 | No | 23 | Yes | 0 | 10 |
7:144318344-144318344 | COSM4590761 | OR2A1 | ENST00000408951 | p.R74C | c.220C>T | No | 99999 | No | 23 | Yes | 0 | 23 |
17:42851584-42851584 | COSM4590771 | AOC3 | ENST00000308423 | p.P81A | c.241C>G | No | 99999 | No | 54 | Yes | 0 | 22 |
9:33385865-33385865 | COSM4590777 | AQP7 | ENST00000297988 | p.A176E | c.527C>A | No | 99999 | Yes | 0 | No | 9 | 19 |
9:33385865-33385865 | COSM4590778 | AQP7_ENST00000379507 | ENST00000379507 | p.A175E | c.524C>A | No | 99999 | Yes | 0 | No | 9 | 19 |
9:33385865-33385865 | COSM4590779 | AQP7_ENST00000539936 | ENST00000539936 | p.A176E | c.527C>A | No | 99999 | Yes | 0 | No | 15 | 19 |
9:33385865-33385865 | COSM4590780 | AQP7_ENST00000379503 | ENST00000379503 | p.A112E | c.335C>A | No | 99999 | No | 13 | Yes | 0 | 19 |
14:70457784-70457784 | COSM4590799 | ADAM21 | ENST00000267499 | p.D95E | c.285C>G | No | 99999 | No | 66 | Yes | 0 | 23 |
14:70457784-70457784 | COSM4590800 | ADAM21_ENST00000267499 | ENST00000267499 | p.D95E | c.285C>G | No | 99999 | No | 66 | Yes | 0 | 23 |
15:40930078-40930078 | COSM4590812 | DLL4_ENST00000249749 | ENST00000249749 | p.R100G | c.298C>G | No | 99999 | No | 429 | Yes | 0 | 18 |
11:48325239-48325239 | COSM4590813 | OR4C3 | ENST00000319856 | p.S100F | c.299C>T | No | 99999 | Yes | 0 | No | 4 | 23 |
11:48324971-48324971 | COSM4590829 | OR4C3 | ENST00000319856 | p.L11F | c.31C>T | No | 99999 | Yes | 0 | No | 15 | 17 |
11:314207-314207 | COSM4590855 | IFITM1 | ENST00000408968 | p.P13A | c.37C>G | No | 99999 | No | 24 | Yes | 0 | 23 |
3:195787618-195787618 | COSM4590860 | MUC4_ENST00000463781 | ENST00000463781 | p.A1321V | c.3962C>T | No | 99999 | No | 4051 | Yes | 0 | 16 |
3:195787543-195787543 | COSM4590864 | MUC4_ENST00000463781 | ENST00000463781 | p.P1346H | c.4037C>A | No | 99999 | No | 4026 | Yes | 0 | 13 |
17:21415809-21415809 | COSM4590892 | KCNJ12 | ENST00000331718 | p.P156L | c.467C>T | No | 99999 | Yes | 0 | No | 22 | 24 |
7:144318594-144318594 | COSM4590893 | OR2A1 | ENST00000408951 | p.A157V | c.470C>T | No | 99999 | Yes | 0 | No | 6 | 18 |
17:46295633-46295633 | COSM4590905 | LRRC37A | ENST00000393466 | p.T167I | c.500C>T | No | 99999 | No | 1415 | Yes | 0 | 13 |
7:100996058-100996058 | COSM4590926 | MUC12 | ENST00000536621 | p.T1832I | c.5495C>T | No | 99999 | No | 3406 | Yes | 0 | 22 |
7:100996058-100996058 | COSM4590927 | MUC12_ENST00000379442 | ENST00000379442 | p.T1975I | c.5924C>T | No | 99999 | No | 3406 | Yes | 0 | 22 |
11:48324995-48324995 | COSM4590935 | OR4C3 | ENST00000319856 | p.P19S | c.55C>T | No | 99999 | Yes | 0 | No | 7 | 20 |
12:11133683-11133683 | COSM4590938 | TAS2R30 | ENST00000539585 | p.L188F | c.562C>T | No | 99999 | Yes | 0 | No | 12 | 11 |
11:55979415-55979415 | COSM4590939 | OR7E5P | ENST00000360245 | p.A189V | c.566C>T | No | 99999 | Yes | 0 | No | 7 | 22 |
12:11133677-11133677 | COSM4590940 | TAS2R30 | ENST00000539585 | p.L190V | c.568C>G | No | 99999 | Yes | 0 | No | 14 | 13 |
11:48325515-48325515 | COSM4590943 | OR4C3 | ENST00000319856 | p.P192L | c.575C>T | No | 99999 | No | 4 | Yes | 0 | 23 |
11:48324999-48324999 | COSM4590951 | OR4C3 | ENST00000319856 | p.A20E | c.59C>A | No | 99999 | Yes | 0 | No | 6 | 21 |
1:16048568-16048568 | COSM4590962 | CLCNKB | ENST00000375679 | p.A214G | c.641C>G | No | 99999 | Yes | 0 | No | 13 | 23 |
3:195783847-195783847 | COSM4590988 | MUC4_ENST00000463781 | ENST00000463781 | p.P2578H | c.7733C>A | No | 99999 | No | 2794 | Yes | 0 | 23 |
12:11061492-11061492 | COSM4591001 | TAS2R46 | ENST00000533467 | p.A268G | c.803C>G | No | 99999 | Yes | 0 | No | 9 | 13 |
12:11061492-11061492 | COSM4591002 | TAS2R46_ENST00000422992 | ENST00000422992 | p.A268G | c.803C>G | No | 99999 | Yes | 0 | No | 9 | 13 |
12:11061481-11061481 | COSM4591003 | TAS2R46 | ENST00000533467 | p.P272S | c.814C>T | No | 99999 | Yes | 0 | No | 13 | 13 |
12:11061481-11061481 | COSM4591004 | TAS2R46_ENST00000422992 | ENST00000422992 | p.P272S | c.814C>T | No | 99999 | Yes | 0 | No | 13 | 13 |
11:48325027-48325027 | COSM4591025 | OR4C3 | ENST00000319856 | p.D29E | c.87C>A | No | 99999 | No | 4 | Yes | 0 | 24 |
7:142138562-142138562 | COSM4591052 | RP11-1220K2.2 | ENST00000477922 | p.F327L | c.981C>G | No | 99999 | No | 298 | Yes | 0 | 15 |
3:195780885-195780885 | COSM4591067 | MUC4_ENST00000463781 | ENST00000463781 | p.Q3565H | c.10695G>C | No | 99999 | No | 1807 | Yes | 0 | 19 |
3:195780733-195780733 | COSM4591072 | MUC4_ENST00000463781 | ENST00000463781 | p.R3616P | c.10847G>C | No | 99999 | No | 1756 | Yes | 0 | 19 |
11:5178445-5178445 | COSM4591079 | Q9H2C7_HUMAN | ENST00000321294 | p.D37N | c.109G>A | No | 99999 | Yes | 0 | No | 4 | 12 |
3:195780563-195780563 | COSM4591081 | MUC4_ENST00000463781 | ENST00000463781 | p.A3673S | c.11017G>T | No | 99999 | No | 1699 | Yes | 0 | 10 |
3:195780236-195780236 | COSM4591094 | MUC4_ENST00000463781 | ENST00000463781 | p.A3782T | c.11344G>A | No | 99999 | No | 1590 | Yes | 0 | 23 |
16:88737574-88737574 | COSM4591104 | PIEZO1 | ENST00000301015 | p.V394L | c.1180G>C | No | 99999 | No | 33 | Yes | 0 | 19 |
3:195779651-195779651 | COSM4591107 | MUC4_ENST00000463781 | ENST00000463781 | p.A3977S | c.11929G>T | No | 99999 | No | 1395 | Yes | 0 | 14 |
3:195779374-195779374 | COSM4591114 | MUC4_ENST00000463781 | ENST00000463781 | p.S4069I | c.12206G>T | No | 99999 | No | 1303 | Yes | 0 | 16 |
3:195779356-195779356 | COSM4591115 | MUC4_ENST00000463781 | ENST00000463781 | p.R4075T | c.12224G>C | No | 99999 | No | 1297 | Yes | 0 | 17 |
23:119469681-119469681 | COSM4591126 | SLC25A5 | ENST00000317881 | p.Q44H | c.132G>T | No | 99999 | No | 65 | Yes | 0 | 16 |
11:4955581-4955581 | COSM4591128 | OR51A2 | ENST00000380371 | p.G45C | c.133G>T | No | 99999 | Yes | 0 | No | 19 | 21 |
11:56700545-56700545 | COSM4591169 | OR9G1 | ENST00000312153 | p.C53Y | c.158G>A | No | 99999 | No | 5 | Yes | 0 | 13 |
16:87690101-87690101 | COSM4591188 | JPH3 | ENST00000284262 | p.V581L | c.1741G>C | No | 99999 | No | 144 | Yes | 0 | 21 |
5:141332480-141332480 | COSM4591197 | PCDHGA1 | ENST00000378105 | p.G599V | c.1796G>T | No | 99999 | No | 92 | Yes | 0 | 11 |
5:141332480-141332480 | COSM4591198 | PCDHGA1_ENST00000517417 | ENST00000517417 | p.G599V | c.1796G>T | No | 99999 | No | 92 | Yes | 0 | 11 |
5:141375879-141375879 | COSM4591199 | PCDHGA6 | ENST00000398610 | p.G599V | c.1796G>T | No | 99999 | No | 93 | Yes | 0 | 10 |
11:130910330-130910330 | COSM4591206 | SNX19 | ENST00000265909 | p.L618F | c.1854G>T | No | 99999 | No | 543 | Yes | 0 | 23 |
9:39118199-39118199 | COSM4591207 | CNTNAP3 | ENST00000297668 | p.G714V | c.2141G>T | No | 99999 | No | 530 | Yes | 0 | 21 |
5:141216053-141216053 | COSM4591219 | PCDHB13 | ENST00000341948 | p.V644I | c.1930G>A | No | 99999 | No | 45 | Yes | 0 | 10 |
9:33385830-33385830 | COSM4591290 | AQP7_ENST00000379507 | ENST00000379507 | p.A187T | c.559G>A | No | 99999 | Yes | 0 | No | 21 | 25 |
6:127516587-127516587 | COSM4591294 | C6orf174 | ENST00000368268 | p.A10P | c.28G>C | No | 99999 | No | 909 | Yes | 0 | 10 |
11:56700736-56700736 | COSM4591326 | OR9G1 | ENST00000312153 | p.V117M | c.349G>A | No | 99999 | Yes | 0 | No | 3 | 23 |
23:119469910-119469910 | COSM4591334 | SLC25A5 | ENST00000317881 | p.G121C | c.361G>T | No | 99999 | Yes | 0 | No | 13 | 14 |
19:8910442-8910442 | COSM4591345 | MUC16_ENST00000397910 | ENST00000397910 | p.G12402E | c.37205G>A | No | 99999 | No | 2051 | Yes | 0 | 22 |
19:8910431-8910431 | COSM4591346 | MUC16_ENST00000397910 | ENST00000397910 | p.G12406R | c.37216G>C | No | 99999 | No | 2047 | Yes | 0 | 22 |
19:8904698-8904698 | COSM4591355 | MUC16_ENST00000397910 | ENST00000397910 | p.M12738I | c.38214G>T | No | 99999 | No | 1715 | Yes | 0 | 11 |
2:33727389-33727389 | COSM4591358 | AC093393.1 | ENST00000322472 | p.W129C | c.387G>C | No | 99999 | Yes | 0 | No | 2 | 23 |
1:204619572-204619572 | COSM4591375 | LRRN2 | ENST00000367175 | p.A141P | c.421G>C | No | 99999 | No | 490 | Yes | 0 | 22 |
11:48324983-48324983 | COSM4591380 | OR4C3 | ENST00000319856 | p.G15R | c.43G>C | No | 99999 | Yes | 0 | No | 11 | 21 |
9:122750296-122750296 | COSM4591385 | OR1L6 | ENST00000373684 | p.C186Y | c.557G>A | No | 99999 | No | 41 | Yes | 0 | 23 |
17:46295590-46295590 | COSM4591393 | LRRC37A | ENST00000393466 | p.D153Y | c.457G>T | No | 99999 | No | 1429 | Yes | 0 | 13 |
3:195786908-195786908 | COSM4591396 | MUC4_ENST00000463781 | ENST00000463781 | p.A1558T | c.4672G>A | No | 99999 | No | 3814 | Yes | 0 | 13 |
11:48325462-48325462 | COSM4591427 | OR4C3 | ENST00000319856 | p.W174* | c.522G>A | No | 99999 | Yes | 0 | No | 15 | 24 |
5:141235258-141235258 | COSM4591443 | PCDHB18 | ENST00000274705 | p.S182N | c.545G>A | No | 99999 | No | 453 | Yes | 0 | 10 |
23:119470097-119470097 | COSM4591444 | SLC25A5 | ENST00000317881 | p.G183V | c.548G>T | No | 99999 | Yes | 0 | No | 12 | 20 |
1:247949443-247949443 | COSM4591456 | OR2L8 | ENST00000357191 | p.G196C | c.586G>T | No | 99999 | No | 6 | Yes | 0 | 23 |
12:42106000-42106000 | COSM4591459 | GXYLT1 | ENST00000398675 | p.D228Y | c.682G>T | No | 99999 | No | 199 | Yes | 0 | 14 |
12:42106000-42106000 | COSM4591460 | Q8IXV1_HUMAN | ENST00000280876 | p.D197Y | c.589G>T | No | 99999 | No | 168 | Yes | 0 | 14 |
14:18601712-18601712 | COSM4591462 | OR11H12 | ENST00000550708 | p.R199L | c.596G>T | No | 99999 | No | 20 | Yes | 0 | 20 |
12:10420546-10420546 | COSM4591468 | KLRC3 | ENST00000381903 | p.S2N | c.5G>A | No | 99999 | No | 73 | Yes | 0 | 24 |
12:10420546-10420546 | COSM4591469 | KLRC3_ENST00000381904 | ENST00000381904 | p.S2N | c.5G>A | No | 99999 | No | 73 | Yes | 0 | 24 |
12:42105937-42105937 | COSM4591500 | GXYLT1 | ENST00000398675 | p.E249K | c.745G>A | No | 99999 | No | 220 | Yes | 0 | 17 |
12:42105937-42105937 | COSM4591501 | Q8IXV1_HUMAN | ENST00000280876 | p.E218K | c.652G>A | No | 99999 | No | 189 | Yes | 0 | 17 |
1:247921678-247921678 | COSM4591504 | OR2T8 | ENST00000319968 | p.A221S | c.661G>T | No | 99999 | Yes | 0 | No | 20 | 22 |
17:46295213-46295213 | COSM4591569 | LRRC37A | ENST00000393466 | p.W27L | c.80G>T | No | 99999 | No | 1555 | Yes | 0 | 13 |
11:48325754-48325754 | COSM4591571 | OR4C3 | ENST00000319856 | p.V272F | c.814G>T | No | 99999 | Yes | 0 | No | 16 | 23 |
16:2102425-2102425 | COSM4591603 | PKD1 | ENST00000262304 | p.A3053P | c.9157G>C | No | 99999 | No | 20 | Yes | 0 | 14 |
1:248650779-248650779 | COSM4591629 | OR2T27 | ENST00000344889 | p.L36V | c.106T>G | No | 99999 | Yes | 0 | No | 11 | 23 |
11:48325052-48325052 | COSM4591644 | OR4C3 | ENST00000319856 | p.F38V | c.112T>G | No | 99999 | No | 13 | Yes | 0 | 23 |
5:150204551-150204551 | COSM4591681 | SLC6A7 | ENST00000230671 | p.V451G | c.1352T>G | No | 99999 | No | 4 | Yes | 0 | 10 |
6:75284490-75284490 | COSM4591692 | TMEM30A | ENST00000230461 | p.V50G | c.149T>G | No | 99999 | Yes | 0 | No | 17 | 10 |
11:56700544-56700544 | COSM4591696 | OR9G1 | ENST00000312153 | p.C53R | c.157T>C | No | 99999 | No | 5 | Yes | 0 | 14 |
19:40881742-40881742 | COSM4591719 | CYP2A7 | ENST00000301146 | p.C64R | c.190T>C | No | 99999 | No | 40 | Yes | 0 | 19 |
7:144267174-144267174 | COSM4591739 | CTAGE8 | ENST00000487179 | p.F693L | c.2077T>C | No | 99999 | No | 633 | Yes | 0 | 12 |
12:11031043-11031043 | COSM4591773 | TAS2R31 | ENST00000390675 | p.L98P | c.293T>C | No | 99999 | Yes | 0 | No | 14 | 23 |
16:81165950-81165950 | COSM4591785 | PKD1L2_ENST00000525539 | ENST00000525539 | p.L1036P | c.3107T>C | No | 99999 | No | 310 | Yes | 0 | 16 |
9:123363127-123363127 | COSM4591806 | CRB2 | ENST00000373631 | p.H119Q | c.357T>G | No | 99999 | No | 84 | Yes | 0 | 11 |
9:123363127-123363127 | COSM4591807 | CRB2_ENST00000359999 | ENST00000359999 | p.H119Q | c.357T>G | No | 99999 | No | 84 | Yes | 0 | 11 |
19:8898600-8898600 | COSM4591820 | MUC16_ENST00000397910 | ENST00000397910 | p.I13066T | c.39197T>C | No | 99999 | No | 1387 | Yes | 0 | 16 |
3:195787600-195787600 | COSM4591822 | MUC4_ENST00000463781 | ENST00000463781 | p.M1327T | c.3980T>C | No | 99999 | No | 4045 | Yes | 0 | 16 |
11:58439731-58439731 | COSM4591829 | OR5B12 | ENST00000302572 | p.C141R | c.421T>C | No | 99999 | Yes | 0 | No | 16 | 23 |
20:37521380-37521380 | COSM4591851 | NNAT | ENST00000062104 | p.Y17D | c.49T>G | No | 99999 | Yes | 0 | No | 19 | 22 |
23:119470067-119470067 | COSM4591859 | SLC25A5 | ENST00000317881 | p.L173P | c.518T>C | No | 99999 | Yes | 0 | No | 22 | 16 |
12:10420496-10420496 | COSM4591867 | KLRC3 | ENST00000381903 | p.W19R | c.55T>C | No | 99999 | No | 56 | Yes | 0 | 23 |
12:10420496-10420496 | COSM4591868 | KLRC3_ENST00000381904 | ENST00000381904 | p.W19R | c.55T>C | No | 99999 | No | 56 | Yes | 0 | 23 |
1:71046956-71046956 | COSM4591895 | PTGER3 | NM_000957.2 | p.C208G | c.622T>G | No | 99999 | No | 12 | Yes | 0 | 10 |
1:71046956-71046956 | COSM4591896 | PTGER3_ENST00000356595 | ENST00000356595 | p.C208G | c.622T>G | No | 99999 | No | 12 | Yes | 0 | 10 |
1:71046956-71046956 | COSM4591897 | PTGER3_ENST00000306666 | ENST00000306666 | p.C208G | c.622T>G | No | 99999 | No | 12 | Yes | 0 | 10 |
1:71046956-71046956 | COSM4591898 | PTGER3_ENST00000370924 | ENST00000370924 | p.C208G | c.622T>G | No | 99999 | No | 12 | Yes | 0 | 10 |
1:71046956-71046956 | COSM4591899 | PTGER3_ENST00000460330 | ENST00000460330 | p.C208G | c.622T>G | No | 99999 | No | 12 | Yes | 0 | 10 |
1:71046956-71046956 | COSM4591900 | PTGER3_ENST00000354608 | ENST00000354608 | p.C208G | c.622T>G | No | 99999 | No | 12 | Yes | 0 | 10 |
15:22081297-22081297 | COSM4591915 | OR4M2 | ENST00000332663 | p.F225L | c.673T>C | No | 99999 | Yes | 0 | No | 23 | 23 |
3:195784460-195784460 | COSM4591924 | MUC4_ENST00000463781 | ENST00000463781 | p.S2374P | c.7120T>C | No | 99999 | No | 2998 | Yes | 0 | 23 |
12:6748824-6748824 | COSM4591926 | MLF2 | ENST00000203630 | p.S240P | c.718T>C | No | 99999 | No | 157 | Yes | 0 | 10 |
11:117903576-117903576 | COSM4591941 | TMPRSS13_ENST00000445164 | ENST00000445164 | p.L586V | c.1756T>G | No | 268 | No | 398 | Yes | 0 | 22 |
3:195783346-195783346 | COSM4591945 | MUC4_ENST00000463781 | ENST00000463781 | p.V2745A | c.8234T>C | No | 99999 | No | 2627 | Yes | 0 | 23 |
3:195782605-195782605 | COSM4591961 | MUC4_ENST00000463781 | ENST00000463781 | p.L2992P | c.8975T>C | No | 99999 | No | 2380 | Yes | 0 | 18 |
3:195781906-195781906 | COSM4591971 | MUC4_ENST00000463781 | ENST00000463781 | p.V3225A | c.9674T>C | No | 99999 | No | 2147 | Yes | 0 | 10 |
6:30949435-30949435 | COSM4591973 | DPCR1_ENST00000462446 | ENST00000462446 | p.I324T | c.971T>C | No | 99999 | No | 295 | Yes | 0 | 23 |
2:42763207-42763207 | COSM4591974 | OXER1 | ENST00000378661 | p.S325P | c.973T>C | No | 99999 | No | 3 | Yes | 0 | 20 |
10:124021238-124021238 | COSM4591982 | CHST15_ENST00000421115 | ENST00000421115 | p.R456fs*28 | c.1365delC | No | 99999 | No | 354 | Yes | 0 | 15 |
20:1915406-1915408 | COSM4591993 | SIRPA_ENST00000400068 | ENST00000400068 | p.D131delD | c.387_389delCGA | No | 99999 | No | 241 | Yes | 0 | 14 |
3:195779564-195779564 | COSM4592025 | MUC4_ENST00000463781 | ENST00000463781 | p.T4006P | c.12016A>C | No | 99999 | No | 1366 | Yes | 0 | 14 |
17:57107061-57107061 | COSM4592047 | AKAP1 | ENST00000337714 | p.T533P | c.1597A>C | No | 99999 | No | 507 | Yes | 0 | 12 |
17:57107061-57107061 | COSM4592048 | AKAP1_ENST00000314126 | ENST00000314126 | p.T533P | c.1597A>C | No | 99999 | No | 507 | Yes | 0 | 12 |
16:87690120-87690120 | COSM4592058 | JPH3 | ENST00000284262 | p.H587P | c.1760A>C | No | 99999 | No | 138 | Yes | 0 | 10 |
6:32584183-32584183 | COSM4592095 | HLA-DRB1 | ENST00000360004 | p.Q99R | c.296A>G | No | 99999 | No | 129 | Yes | 0 | 10 |
7:128030297-128030297 | COSM4592105 | LRRC4 | ENST00000249363 | p.E115G | c.344A>G | No | 99999 | No | 76 | Yes | 0 | 15 |
6:33080917-33080917 | COSM4592108 | HLA-DPB1 | ENST00000418931 | p.M116V | c.346A>G | No | 99999 | No | 110 | Yes | 0 | 15 |
19:8907832-8907832 | COSM4592115 | MUC16_ENST00000397910 | ENST00000397910 | p.K12556Q | c.37666A>C | No | 99999 | No | 1897 | Yes | 0 | 14 |
12:11061856-11061856 | COSM4592128 | TAS2R46 | ENST00000533467 | p.I147V | c.439A>G | No | 99999 | Yes | 0 | No | 1 | 16 |
12:11061856-11061856 | COSM4592129 | TAS2R46_ENST00000422992 | ENST00000422992 | p.I147V | c.439A>G | No | 99999 | Yes | 0 | No | 1 | 16 |
12:11061838-11061838 | COSM4592134 | TAS2R46 | ENST00000533467 | p.I153V | c.457A>G | No | 99999 | No | 6 | Yes | 0 | 18 |
12:11061838-11061838 | COSM4592135 | TAS2R46_ENST00000422992 | ENST00000422992 | p.I153V | c.457A>G | No | 99999 | No | 6 | Yes | 0 | 18 |
6:31270252-31270252 | COSM4592140 | HLA-C | ENST00000376228 | p.M285V | c.853A>G | No | 99999 | No | 21 | Yes | 0 | 17 |
6:31270252-31270252 | COSM4592141 | HLA-C_ENST00000539307 | ENST00000539307 | p.M322V | c.964A>G | No | 99999 | No | 21 | Yes | 0 | 17 |
6:31270252-31270252 | COSM4592142 | HLA-C_ENST00000383329 | ENST00000383329 | p.M285V | c.853A>G | No | 99999 | No | 21 | Yes | 0 | 17 |
7:100995575-100995575 | COSM4592144 | MUC12_ENST00000379442 | ENST00000379442 | p.H1814R | c.5441A>G | No | 99999 | No | 3567 | Yes | 0 | 19 |
6:31270233-31270233 | COSM4592147 | HLA-C | ENST00000376228 | p.Q291P | c.872A>C | No | 99999 | No | 15 | Yes | 0 | 16 |
6:31270233-31270233 | COSM4592148 | HLA-C_ENST00000539307 | ENST00000539307 | p.Q328P | c.983A>C | No | 99999 | No | 15 | Yes | 0 | 16 |
6:31270233-31270233 | COSM4592149 | HLA-C_ENST00000383329 | ENST00000383329 | p.Q291P | c.872A>C | No | 99999 | No | 15 | Yes | 0 | 16 |
7:100995814-100995814 | COSM4592153 | MUC12 | ENST00000536621 | p.T1751P | c.5251A>C | No | 99999 | No | 3487 | Yes | 0 | 19 |
7:100995814-100995814 | COSM4592154 | MUC12_ENST00000379442 | ENST00000379442 | p.T1894P | c.5680A>C | No | 99999 | No | 3487 | Yes | 0 | 19 |
2:212538476-212538476 | COSM4592166 | ERBB4 | ENST00000342788 | p.T19A | c.55A>G | No | 99999 | No | 634 | Yes | 0 | 11 |
2:212538476-212538476 | COSM4592167 | ERBB4_ENST00000402597 | ENST00000402597 | p.T19A | c.55A>G | No | 99999 | No | 624 | Yes | 0 | 11 |
6:32757848-32757848 | COSM4592197 | HLA-DQB2_ENST00000435145 | ENST00000435145 | p.S228G | c.682A>G | No | 99999 | Yes | 0 | No | 2 | 19 |
6:32757842-32757842 | COSM4592198 | HLA-DQB2_ENST00000435145 | ENST00000435145 | p.I230V | c.688A>G | No | 99999 | Yes | 0 | No | 4 | 19 |
9:33385289-33385289 | COSM4592205 | AQP7 | ENST00000297988 | p.N249D | c.745A>G | No | 99999 | No | 5 | Yes | 0 | 17 |
9:33385289-33385289 | COSM4592206 | AQP7_ENST00000379507 | ENST00000379507 | p.N248D | c.742A>G | No | 99999 | No | 5 | Yes | 0 | 17 |
3:195780604-195780604 | COSM4592250 | MUC4_ENST00000463781 | ENST00000463781 | p.T3659R | c.10976C>G | No | 99999 | No | 1713 | Yes | 0 | 16 |
6:31271165-31271165 | COSM4592293 | HLA-C | ENST00000376228 | p.A176V | c.527C>T | No | 99999 | No | 130 | Yes | 0 | 15 |
6:31271165-31271165 | COSM4592294 | HLA-C_ENST00000539307 | ENST00000539307 | p.A213V | c.638C>T | No | 99999 | No | 130 | Yes | 0 | 15 |
6:31271165-31271165 | COSM4592295 | HLA-C_ENST00000383329 | ENST00000383329 | p.A176V | c.527C>T | No | 99999 | No | 130 | Yes | 0 | 15 |
6:29942939-29942939 | COSM4592300 | HLA-A_ENST00000376806 | ENST00000376806 | p.Q86E | c.256C>G | No | 99999 | No | 220 | Yes | 0 | 14 |
19:7551018-7551018 | COSM4592320 | PNPLA6_ENST00000414982 | ENST00000414982 | p.R708G | c.2122C>G | No | 99999 | No | 628 | Yes | 0 | 11 |
19:7551018-7551018 | COSM4592321 | PNPLA6 | ENST00000221249 | p.R660G | c.1978C>G | No | 99999 | No | 629 | Yes | 0 | 11 |
14:18601385-18601385 | COSM4592354 | OR11H12 | ENST00000550708 | p.S90F | c.269C>T | No | 99999 | Yes | 0 | No | 9 | 13 |
6:32584162-32584162 | COSM4592378 | HLA-DRB1 | ENST00000360004 | p.T106N | c.317C>A | No | 99999 | No | 122 | Yes | 0 | 10 |
9:39078723-39078723 | COSM4592383 | CNTNAP3 | ENST00000297668 | p.R1214W | c.3640C>T | No | 99999 | No | 30 | Yes | 0 | 10 |
2:102165189-102165189 | COSM4592390 | IL1R1 | ENST00000233946 | p.A124E | c.371C>A | No | 99999 | No | 213 | Yes | 0 | 10 |
6:31270276-31270276 | COSM4592430 | HLA-C | ENST00000376228 | p.Q277E | c.829C>G | No | 99999 | No | 29 | Yes | 0 | 17 |
6:31270276-31270276 | COSM4592431 | HLA-C_ENST00000539307 | ENST00000539307 | p.Q314E | c.940C>G | No | 99999 | No | 29 | Yes | 0 | 17 |
6:31270276-31270276 | COSM4592432 | HLA-C_ENST00000383329 | ENST00000383329 | p.Q277E | c.829C>G | No | 99999 | No | 29 | Yes | 0 | 17 |
7:100995785-100995785 | COSM4592441 | MUC12 | ENST00000536621 | p.S1741L | c.5222C>T | No | 99999 | No | 3497 | Yes | 0 | 19 |
7:100995785-100995785 | COSM4592442 | MUC12_ENST00000379442 | ENST00000379442 | p.S1884L | c.5651C>T | No | 99999 | No | 3497 | Yes | 0 | 19 |
7:100996039-100996039 | COSM4592448 | MUC12_ENST00000379442 | ENST00000379442 | p.H1969Y | c.5905C>T | No | 99999 | No | 3412 | Yes | 0 | 14 |
6:127515974-127515974 | COSM4592481 | C6orf174 | ENST00000368268 | p.A214G | c.641C>G | No | 99999 | No | 705 | Yes | 0 | 14 |
7:101038078-101038078 | COSM4592488 | MUC17 | ENST00000306151 | p.P2221R | c.6662C>G | No | 99999 | No | 2171 | Yes | 0 | 18 |
3:195783544-195783544 | COSM4592525 | MUC4_ENST00000463781 | ENST00000463781 | p.S2679Y | c.8036C>A | No | 99999 | No | 2693 | Yes | 0 | 15 |
6:29943377-29943377 | COSM4592539 | HLA-A_ENST00000376806 | ENST00000376806 | p.N151K | c.453C>A | No | 99999 | No | 155 | Yes | 0 | 18 |
1:248559358-248559358 | COSM4592594 | OR2T29 | ENST00000328570 | p.G45E | c.134G>A | No | 99999 | Yes | 0 | No | 9 | 12 |
1:248559323-248559323 | COSM4592627 | OR2T29 | ENST00000328570 | p.A57T | c.169G>A | No | 99999 | No | 4 | Yes | 0 | 13 |
1:248559310-248559310 | COSM4592634 | OR2T29 | ENST00000328570 | p.S61T | c.182G>C | No | 99999 | No | 8 | Yes | 0 | 14 |
6:32522079-32522079 | COSM4592641 | HLA-DRB5 | ENST00000374975 | p.D66Y | c.196G>T | No | 99999 | No | 162 | Yes | 0 | 17 |
6:31271653-31271653 | COSM4592646 | HLA-C_ENST00000539307 | ENST00000539307 | p.A134T | c.400G>A | No | 99999 | No | 209 | Yes | 0 | 15 |
9:74788658-74788658 | COSM4592670 | TRPM6_ENST00000449912 | ENST00000449912 | p.V870F | c.2608G>T | No | 99999 | No | 14 | Yes | 0 | 11 |
9:74788658-74788658 | COSM4592671 | TRPM6_ENST00000451710 | ENST00000451710 | p.V875F | c.2623G>T | No | 99999 | No | 14 | Yes | 0 | 11 |
9:74788658-74788658 | COSM4592672 | TRPM6 | ENST00000360774 | p.V875F | c.2623G>T | No | 99999 | No | 14 | Yes | 0 | 11 |
6:33080909-33080909 | COSM4592674 | HLA-DPB1 | ENST00000418931 | p.G113D | c.338G>A | No | 99999 | No | 113 | Yes | 0 | 15 |
6:33080909-33080909 | COSM4592675 | HLA-DPB1_ENST00000416804 | ENST00000416804 | p.G80S | c.238G>A | No | 99999 | No | 113 | Yes | 0 | 15 |
1:248559206-248559206 | COSM4592681 | OR2T29 | ENST00000328570 | p.V96I | c.286G>A | No | 99999 | No | 6 | Yes | 0 | 15 |
9:41898954-41898954 | COSM4592708 | CNTNAP3B | ENST00000377564 | p.G1163D | c.3488G>A | No | 99999 | No | 81 | Yes | 0 | 11 |
20:1915413-1915413 | COSM4592725 | SIRPA_ENST00000400068 | ENST00000400068 | p.V132M | c.394G>A | No | 99999 | No | 240 | Yes | 0 | 14 |
6:33084959-33084959 | COSM4592809 | HLA-DPB1 | ENST00000418931 | p.R125K | c.374G>A | No | 99999 | No | 101 | Yes | 0 | 15 |
9:34726185-34726185 | COSM4592890 | FAM205A_ENST00000378788 | ENST00000378788 | p.F352S | c.1055T>C | No | 99999 | No | 323 | Yes | 0 | 13 |
9:34726185-34726185 | COSM4592891 | FAM205A | ENST00000378788 | p.F352S | c.1055T>C | No | 99999 | No | 323 | Yes | 0 | 13 |
2:232484168-232484168 | COSM4592915 | ECEL1 | ENST00000304546 | p.S414P | c.1240T>C | No | 99999 | No | 332 | Yes | 0 | 14 |
6:29942953-29942953 | COSM4592941 | HLA-A_ENST00000376806 | ENST00000376806 | p.N90K | c.270T>A | No | 99999 | No | 216 | Yes | 0 | 14 |
6:32522069-32522069 | COSM4592945 | HLA-DRB5 | ENST00000374975 | p.F69Y | c.206T>A | No | 99999 | No | 159 | Yes | 0 | 10 |
19:7550995-7550995 | COSM4592946 | PNPLA6_ENST00000414982 | ENST00000414982 | p.V700G | c.2099T>G | No | 99999 | No | 620 | Yes | 0 | 12 |
19:7550995-7550995 | COSM4592947 | PNPLA6 | ENST00000221249 | p.V652G | c.1955T>G | No | 99999 | No | 621 | Yes | 0 | 12 |
6:29943495-29943495 | COSM4592950 | HLA-A_ENST00000376806 | ENST00000376806 | p.W191G | c.571T>G | No | 99999 | No | 115 | Yes | 0 | 14 |
6:32521989-32521989 | COSM4592963 | HLA-DRB5 | ENST00000374975 | p.F96L | c.286T>C | No | 99999 | No | 132 | Yes | 0 | 11 |
6:32745821-32745821 | COSM4592983 | HLA-DQA2 | ENST00000374940 | p.F121S | c.362T>C | No | 99999 | No | 97 | Yes | 0 | 10 |
20:1915414-1915414 | COSM4592988 | SIRPA_ENST00000400068 | ENST00000400068 | p.V132A | c.395T>C | No | 99999 | No | 240 | Yes | 0 | 14 |
11:46875061-46875061 | COSM4592989 | LRP4 | ENST00000378623 | p.L1323P | c.3968T>C | No | 99999 | No | 401 | Yes | 0 | 15 |
12:11133690-11133690 | COSM4593004 | TAS2R30 | ENST00000539585 | p.F185L | c.555T>A | No | 99999 | Yes | 0 | No | 9 | 11 |
6:29889459-29889459 | COSM4593046 | ENSG00000196306 | ENST00000360432 | p.D252fs*46 | c.753delG | No | 99999 | No | 57 | Yes | 0 | 17 |
6:29887795-29887801 | COSM4593057 | ENSG00000196306 | ENST00000360432 | p.A16fs*2 | c.44_50delGGGCCCT | No | 99999 | No | 293 | Yes | 0 | 18 |
6:29889329-29889329 | COSM4593065 | ENSG00000196306 | ENST00000360432 | p.T212fs*3 | c.627delC | No | 99999 | No | 97 | Yes | 0 | 19 |
11:94545155-94545155 | COSM4593071 | FUT4 | ENST00000358752 | p.D341A | c.1022A>C | No | 99999 | No | 171 | Yes | 0 | 10 |
7:75422661-75422661 | COSM4593089 | POM121C_ENST00000257665 | ENST00000257665_v70 | p.T773P | c.2317A>C | No | 99999 | No | 715 | Yes | 0 | 12 |
6:29943451-29943451 | COSM4593091 | HLA-A | ENST00000396634 | p.E176A | c.527A>C | No | 99999 | No | 132 | Yes | 0 | 11 |
6:29943451-29943451 | COSM4593092 | HLA-A_ENST00000376806 | ENST00000376806 | p.E176A | c.527A>C | No | 99999 | No | 130 | Yes | 0 | 11 |
6:29943483-29943483 | COSM4593098 | HLA-A | ENST00000396634 | p.T187P | c.559A>C | No | 99999 | No | 121 | Yes | 0 | 14 |
6:29943483-29943483 | COSM4593099 | HLA-A_ENST00000376806 | ENST00000376806 | p.T187P | c.559A>C | No | 99999 | No | 119 | Yes | 0 | 14 |
17:46548500-46548500 | COSM4593119 | LRRC37A2 | ENST00000333412 | p.S1121R | c.3361A>C | No | 99999 | No | 461 | Yes | 0 | 11 |
6:29888168-29888168 | COSM4593126 | ENSG00000196306 | ENST00000360432 | p.Q98R | c.293A>G | No | 99999 | No | 211 | Yes | 0 | 13 |
17:81280637-81280637 | COSM4593133 | SLC38A10_ENST00000374759 | ENST00000374759 | p.I200L | c.598A>C | No | 99999 | No | 29 | Yes | 0 | 12 |
17:81280637-81280637 | COSM4593134 | SLC38A10 | ENST00000288439 | p.I200L | c.598A>C | No | 99999 | No | 29 | Yes | 0 | 12 |
7:100994606-100994606 | COSM4593145 | MUC12 | ENST00000536621 | p.D1348G | c.4043A>G | No | 99999 | No | 3890 | Yes | 0 | 11 |
7:100994606-100994606 | COSM4593146 | MUC12_ENST00000379442 | ENST00000379442 | p.D1491G | c.4472A>G | No | 99999 | No | 3890 | Yes | 0 | 11 |
5:150405173-150405173 | COSM4593150 | CD74_ENST00000009530 | ENST00000009530 | p.D150A | c.449A>C | No | 99999 | No | 79 | Yes | 0 | 10 |
11:76661100-76661100 | COSM4593153 | LRRC32 | ENST00000260061 | p.T165P | c.493A>C | No | 99999 | No | 464 | Yes | 0 | 10 |
19:8888745-8888745 | COSM4593205 | MUC16_ENST00000397910 | ENST00000397910 | p.T13585S | c.40754C>G | No | 99999 | No | 868 | Yes | 0 | 10 |
6:29943469-29943469 | COSM4593231 | HLA-A | ENST00000396634 | p.A182V | c.545C>T | No | 99999 | No | 126 | Yes | 0 | 10 |
6:29943469-29943469 | COSM4593232 | HLA-A_ENST00000376806 | ENST00000376806 | p.A182V | c.545C>T | No | 99999 | No | 124 | Yes | 0 | 10 |
6:29943484-29943484 | COSM4593240 | HLA-A | ENST00000396634 | p.T187R | c.560C>G | No | 99999 | No | 121 | Yes | 0 | 14 |
6:29943484-29943484 | COSM4593241 | HLA-A_ENST00000376806 | ENST00000376806 | p.T187R | c.560C>G | No | 99999 | No | 119 | Yes | 0 | 14 |
6:29888668-29888668 | COSM4593296 | ENSG00000196306 | ENST00000360432 | p.A184V | c.551C>T | No | 99999 | No | 125 | Yes | 0 | 15 |
12:11091527-11091527 | COSM4593311 | TAS2R43 | ENST00000531678 | p.L235F | c.703C>T | No | 99999 | Yes | 0 | No | 19 | 14 |
19:54278849-54278849 | COSM4593327 | LILRB2 | ENST00000314446 | p.C306W | c.918C>G | No | 99999 | No | 154 | Yes | 0 | 20 |
17:74544906-74544906 | COSM4593332 | CD300C | ENST00000330793 | p.V35L | c.103G>C | No | 99999 | Yes | 0 | No | 1 | 10 |
6:29889727-29889727 | COSM4593386 | ENSG00000196306 | ENST00000360432 | p.V307I | c.919G>A | No | 99999 | No | 2 | Yes | 0 | 17 |
6:29944253-29944253 | COSM4593407 | HLA-A_ENST00000376806 | ENST00000376806 | p.D251H | c.751G>C | No | 99999 | No | 55 | Yes | 0 | 13 |
12:11091492-11091492 | COSM4593451 | TAS2R43 | ENST00000531678 | p.M246I | c.738G>A | No | 99999 | Yes | 0 | No | 8 | 14 |
12:51721559-51721559 | COSM4593479 | SCN8A_ENST00000354534 | ENST00000354534 | p.I550T | c.1649T>C | No | 99999 | No | 139 | Yes | 0 | 12 |
12:51721559-51721559 | COSM4593480 | SCN8A | ENST00000354534 | p.I550T | c.1649T>C | No | 99999 | No | 139 | Yes | 0 | 12 |
7:100994998-100994998 | COSM4593524 | MUC12 | ENST00000536621 | p.F1479L | c.4435T>C | No | 99999 | No | 3759 | Yes | 0 | 13 |
7:100994998-100994998 | COSM4593525 | MUC12_ENST00000379442 | ENST00000379442 | p.F1622L | c.4864T>C | No | 99999 | No | 3759 | Yes | 0 | 13 |
6:29888662-29888662 | COSM4593532 | ENSG00000196306 | ENST00000360432 | p.L182R | c.545T>G | No | 99999 | No | 127 | Yes | 0 | 15 |
7:122013321-122013323 | COSM4593572 | PTPRZ1_ENST00000393386 | ENST00000393386 | p.D1431delD | c.4275_4277delTGA | No | 99999 | No | 209 | Yes | 0 | 11 |
7:122013321-122013323 | COSM4593573 | PTPRZ1 | ENST00000393386 | p.D1431delD | c.4275_4277delTGA | No | 99999 | No | 209 | Yes | 0 | 11 |
6:29942911-29942911 | COSM4593603 | HLA-A_ENST00000376806 | ENST00000376806 | p.I76M | c.228A>G | No | 99999 | No | 230 | Yes | 0 | 11 |
19:38455535-38455535 | COSM4593611 | RYR1 | ENST00000359596 | p.E554G | c.1661A>G | No | 99999 | No | 3791 | Yes | 0 | 10 |
6:29942940-29942940 | COSM4593615 | HLA-A_ENST00000376806 | ENST00000376806 | p.Q86R | c.257A>G | No | 99999 | No | 220 | Yes | 0 | 10 |
12:11061787-11061787 | COSM4593653 | TAS2R46 | ENST00000533467 | p.S170R | c.508A>C | No | 99999 | No | 7 | Yes | 0 | 13 |
12:11061787-11061787 | COSM4593654 | TAS2R46_ENST00000422992 | ENST00000422992 | p.S170R | c.508A>C | No | 99999 | No | 7 | Yes | 0 | 13 |
11:5178478-5178478 | COSM4593674 | Q9H2C7_HUMAN | ENST00000321294 | p.M26L | c.76A>T | No | 99999 | No | 7 | Yes | 0 | 10 |
6:29942845-29942845 | COSM4593729 | HLA-A_ENST00000376806 | ENST00000376806 | p.D54D | c.162C>T | No | 99999 | No | 252 | Yes | 0 | 11 |
6:33080689-33080689 | COSM4593820 | HLA-DPB1 | ENST00000418931 | p.G40* | c.118G>T | No | 99999 | No | 186 | Yes | 0 | 12 |
6:33080689-33080689 | COSM4593821 | HLA-DPB1_ENST00000416804 | ENST00000416804 | p.Q6H | c.18G>T | No | 99999 | No | 187 | Yes | 0 | 12 |
6:33080690-33080690 | COSM4593826 | HLA-DPB1 | ENST00000418931 | p.G40V | c.119G>T | No | 99999 | No | 186 | Yes | 0 | 12 |
6:33080690-33080690 | COSM4593827 | HLA-DPB1_ENST00000416804 | ENST00000416804 | p.G7* | c.19G>T | No | 99999 | No | 186 | Yes | 0 | 12 |
6:29944193-29944193 | COSM4593886 | HLA-A_ENST00000376806 | ENST00000376806 | p.G231S | c.691G>A | No | 99999 | No | 75 | Yes | 0 | 13 |
6:29944310-29944310 | COSM4593909 | HLA-A | ENST00000396634 | p.A270S | c.808G>T | No | 99999 | No | 38 | Yes | 0 | 11 |
6:29944310-29944310 | COSM4593910 | HLA-A_ENST00000376806 | ENST00000376806 | p.A270S | c.808G>T | No | 99999 | No | 36 | Yes | 0 | 11 |
6:29944331-29944331 | COSM4593914 | HLA-A_ENST00000376806 | ENST00000376806 | p.E277Q | c.829G>C | No | 99999 | No | 29 | Yes | 0 | 29 |
3:195779602-195779602 | COSM4593974 | MUC4_ENST00000463781 | ENST00000463781 | p.V3993A | c.11978T>C | No | 99999 | No | 1379 | Yes | 0 | 14 |
6:29942827-29942827 | COSM4594173 | HLA-A_ENST00000376806 | ENST00000376806 | p.A48A | c.144C>A | No | 99999 | No | 258 | Yes | 0 | 26 |
9:33385854-33385854 | COSM4594281 | AQP7_ENST00000379507 | ENST00000379507 | p.G179R | c.535G>A | No | 99999 | Yes | 0 | No | 13 | 18 |
3:195781220-195781220 | COSM4594495 | MUC4_ENST00000463781 | ENST00000463781 | p.T3454A | c.10360A>G | No | 99999 | No | 1918 | Yes | 0 | 10 |
9:33385700-33385700 | COSM4597274 | AQP7_ENST00000379507 | ENST00000379507 | p.L230P | c.689T>C | No | 99999 | No | 6 | Yes | 0 | 13 |
9:33385752-33385752 | COSM4600820 | AQP7_ENST00000379507 | ENST00000379507 | p.G213R | c.637G>A | No | 99999 | Yes | 0 | No | 12 | 12 |
6:32584180-32584181 | COSM4602846 | HLA-DRB1 | ENST00000360004 | p.A100fs*30 | c.298_299insAA | No | 99999 | No | 128 | Yes | 0 | 10 |
6:95586993-95586994 | COSM4602891 | MANEA_ENST00000369293 | ENST00000369293 | p.V190fs*>11 | c.554_555insTATA | No | 99999 | No | 164 | Yes | 0 | 17 |
1:116579665-116579666 | COSM4602901 | IGSF3_ENST00000369483 | ENST00000369483 | p.D1040_D1041insG | c.3120_3121insGGA | No | 99999 | No | 105 | Yes | 0 | 11 |
1:116579665-116579666 | COSM4602902 | IGSF3 | ENST00000369486 | p.D1020_D1021insG | c.3060_3061insGGA | No | 99999 | No | 105 | Yes | 0 | 11 |
17:74842990-74842991 | COSM4603113 | GRIN2C_ENST00000293190 | ENST00000293190 | p.L1049_E1050insPGA | c.3146_3147insCCCCGGAGC | No | 99999 | No | 214 | Yes | 0 | 16 |
17:74842990-74842991 | COSM4603114 | GRIN2C | ENST00000293190 | p.L1049_E1050insPGA | c.3146_3147insCCCCGGAGC | No | 99999 | No | 214 | Yes | 0 | 16 |
16:76277704-76277705 | COSM4603136 | CNTNAP4_ENST00000307431 | ENST00000307431 | p.Y15fs*15 | c.42_43insT | No | 99999 | No | 1226 | Yes | 0 | 23 |
9:122629490-122629491 | COSM4603137 | OR1B1 | ENST00000304833 | p.L16fs*8 | c.45_46insT | No | 99999 | No | 13 | Yes | 0 | 10 |
11:5454200-5454201 | COSM4603148 | OR51I2 | ENST00000341449 | p.L238fs*19 | c.712_713insCA | No | 99999 | Yes | 0 | No | 20 | 16 |
17:74893496-74893497 | COSM4603231 | FADS6_ENST00000310226 | ENST00000310226 | p.P15_A16insYGAHGT | c.45_46ins18 | No | 99999 | No | 31 | Yes | 0 | 21 |
17:74893496-74893497 | COSM4603232 | FADS6 | ENST00000310226 | p.P15_A16insYGAHGT | c.45_46ins18 | No | 99999 | No | 31 | Yes | 0 | 21 |
17:74893523-74893524 | COSM4603276 | FADS6_ENST00000310226 | ENST00000310226 | p.P6_M7insDGTYGA | c.18_19ins18 | No | 99999 | No | 40 | Yes | 0 | 21 |
17:74893523-74893524 | COSM4603277 | FADS6 | ENST00000310226 | p.P6_M7insDGTYGA | c.18_19ins18 | No | 99999 | No | 40 | Yes | 0 | 21 |
5:131988556-131988557 | COSM4603304 | ACSL6_ENST00000379272 | ENST00000379272 | p.A208fs*7 | c.621_622insCA | No | 99999 | No | 165 | Yes | 0 | 15 |
8:30763323-30763324 | COSM4603367 | UBXN8 | ENST00000265616 | p.K209fs*1 | c.621_622insT | No | 99999 | No | 153 | Yes | 0 | 22 |
3:195785501-195785502 | COSM4603425 | MUC4_ENST00000463781 | ENST00000463781 | p.S2026_T2027insI | c.6078_6079insATC | No | 99999 | No | 3346 | Yes | 0 | 15 |
1:207889755-207889756 | COSM4603437 | CD34_ENST00000367036 | ENST00000367036 | p.S28fs*18 | c.82_83insT | No | 99999 | Yes | 0 | No | 19 | 18 |
3:195791240-195791241 | COSM4603473 | MUC4_ENST00000463781 | ENST00000463781 | p.T113_A114insCYAGD | c.339_340ins15 | No | 99999 | No | 5259 | Yes | 0 | 22 |
1:109250113-109250114 | COSM4603476 | CELSR2 | ENST00000271332 | p.P16_L17insP | c.34_35insCGC | No | 99999 | No | 2363 | Yes | 0 | 13 |
5:157052556-157052557 | COSM4603480 | HAVCR1 | ENST00000339252 | p.T159_T160insN | c.477_478insAAC | No | 99999 | No | 137 | Yes | 0 | 22 |
5:157052556-157052557 | COSM4603481 | HAVCR1_ENST00000425854 | ENST00000425854 | p.T159_T160insN | c.477_478insAAC | No | 99999 | No | 143 | Yes | 0 | 22 |
7:100969674-100969675 | COSM4603482 | MUC12_ENST00000379442 | ENST00000379442 | p.T18_T19insA | c.52_53insCTG | No | 99999 | No | 5363 | Yes | 0 | 22 |
9:133257520-133257521 | COSM4603530 | ABO | ENST00000319878 | p.T87fs*107 | c.259_260insG | No | 99999 | No | 44 | Yes | 0 | 12 |
12:55320622-55320623 | COSM4603531 | OR6C1 | ENST00000379668 | p.E9fs*10 | c.23_24insA | No | 99999 | No | 15 | Yes | 0 | 16 |
1:248638947-248638948 | COSM4603569 | OR2T35 | ENST00000317450 | p.L105_T106insL | c.311_312insTCT | No | 99999 | Yes | 0 | No | 8 | 15 |
6:99934482-99934482 | COSM4611466 | MCHR2_ENST00000369212 | ENST00000369212_v70 | p.F208fs*5 | c.623delT | No | 99999 | Yes | 0 | No | 10 | 11 |
4:142314712-142314712 | COSM4783667 | INPP4B_ENST00000509777 | ENST00000509777 | p.G141G | c.423G>C | No | 99999 | No | 771 | Yes | 0 | 11 |
4:142402941-142402941 | COSM4909329 | INPP4B_ENST00000509777 | ENST00000509777 | p.D123D | c.369C>T | No | 99999 | No | 789 | Yes | 0 | 14 |
1:34795168-34795168 | COSM4967511 | GJA4 | ENST00000342280 | p.P319S | c.955C>T | No | 99999 | No | 89 | Yes | 0 | 10 |
15:89806327-89806327 | COSM4984858 | ANPEP | ENST00000300060 | p.R86Q | c.257G>A | No | 99999 | No | 52 | Yes | 0 | 15 |
22:46390418-46390418 | COSM4984898 | CELSR1 | ENST00000262738 | p.I2107V | c.6319A>G | No | 99999 | No | 364 | Yes | 0 | 10 |
4:186603866-186603866 | COSM4984957 | FAT1 | ENST00000441802 | p.S3554A | c.10660T>G | No | 99999 | No | 625 | Yes | 0 | 15 |
4:186603866-186603866 | COSM4984958 | FAT | ENST00000441802 | p.S3554A | c.10660T>G | No | 99999 | No | 625 | Yes | 0 | 15 |
5:128349443-128349443 | COSM4984959 | FBN2_ENST00000508053 | ENST00000508053 | p.V965I | c.2893G>A | No | 99999 | No | 939 | Yes | 0 | 16 |
5:128349443-128349443 | COSM4984960 | FBN2 | ENST00000262464 | p.V965I | c.2893G>A | No | 99999 | No | 939 | Yes | 0 | 16 |
1:157698600-157698600 | COSM4984964 | FCRL3 | ENST00000368184 | p.N28D | c.82A>G | No | 99999 | No | 544 | Yes | 0 | 10 |
1:157698600-157698600 | COSM4984965 | FCRL3_ENST00000368186 | ENST00000368186 | p.N28D | c.82A>G | No | 99999 | No | 544 | Yes | 0 | 10 |
7:95411704-95411704 | COSM4985114 | PON2_ENST00000536183 | ENST00000536183 | p.A169G | c.506C>G | No | 99999 | No | 126 | Yes | 0 | 14 |
22:26299111-26299111 | COSM4985151 | SEZ6L | ENST00000248933 | p.M430I | c.1290G>T | No | 99999 | No | 527 | Yes | 0 | 12 |
17:4735268-4735268 | COSM4985326 | CXCL16 | ENST00000293778 | p.A200V | c.599C>T | No | 99999 | No | 23 | Yes | 0 | 11 |
17:4735268-4735268 | COSM4985327 | CXCL16_ENST00000293778 | ENST00000293778 | p.A200V | c.599C>T | No | 99999 | No | 23 | Yes | 0 | 11 |
22:50571524-50571524 | COSM4985733 | CPT1B | ENST00000395650 | p.E531K | c.1591G>A | No | 99999 | No | 407 | Yes | 0 | 11 |
6:29942581-29942581 | COSM5019101 | HLA-A | ENST00000396634 | p.L10V | c.28C>G | No | 99999 | No | 298 | Yes | 0 | 18 |
6:29942581-29942581 | COSM5019102 | HLA-A_ENST00000376806 | ENST00000376806 | p.L10V | c.28C>G | No | 99999 | No | 296 | Yes | 0 | 18 |
16:66386982-66386982 | COSM5019127 | CDH5 | ENST00000341529 | p.G128G | c.384C>T | No | 99999 | No | 99 | Yes | 0 | 11 |
4:61732971-61732971 | COSM5019164 | LPHN3_ENST00000507625 | ENST00000507625 | p.H272H | c.816C>T | No | 99999 | No | 676 | Yes | 0 | 19 |
13:28050157-28050157 | COSM5019176 | FLT3 | ENST00000241453 | p.T227M | c.680C>T | No | 99999 | No | 315 | Yes | 0 | 18 |
6:29944370-29944370 | COSM5019192 | HLA-A_ENST00000376806 | ENST00000376806 | p.L290L | c.868C>T | No | 99999 | No | 16 | Yes | 0 | 12 |
6:29944556-29944556 | COSM5019200 | HLA-A_ENST00000376806 | ENST00000376806 | p.L318F | c.952C>T | No | 99999 | Yes | 0 | No | 13 | 15 |
17:39723335-39723335 | COSM5019265 | ERBB2_ENST00000541774 | ENST00000541774 | p.I640V | c.1918A>G | No | 99999 | Yes | 0 | No | 3 | 10 |
5:38485963-38485963 | COSM5019427 | LIFR | ENST00000263409 | p.V785I | c.2353G>A | No | 99999 | No | 50 | Yes | 0 | 10 |
5:38485963-38485963 | COSM5019428 | LIFR_ENST00000263409 | ENST00000263409 | p.V785I | c.2353G>A | No | 99999 | No | 50 | Yes | 0 | 10 |
6:29944503-29944503 | COSM5019477 | HLA-A_ENST00000376806 | ENST00000376806 | p.L300P | c.899T>C | No | 99999 | No | 6 | Yes | 0 | 14 |