Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-29416094-G-A p.Pro1620Leu missense ALK 1 83180 1.20221E-5 41590 0 1.2747E-4
2-29416096-C-T p.Gly1619Gly synonymous ALK 1 83172 1.20233E-5 41586 0 NA
2-29416108-C-T p.Met1615Ile missense ALK 1 83166 1.20241E-5 41583 0 8.25532E-6
2-29416111-G-A p.Ser1614Ser synonymous ALK 2 83152 2.40523E-5 41576 0 7.9595E-6
2-29416117-C-T p.Lys1612Lys synonymous ALK 143 83150 0.00171978 41575 0 0.00363104
2-29416117-CTTGCT-C p.Ser1611fs frameshift ALK 1 83150 1.20265E-5 41575 0 NA
2-29416123-T-A p.Lys1610Asn missense ALK 1 83116 1.20314E-5 41558 0 1.64913E-5
2-29416132-G-C p.Thr1607Thr synonymous ALK 3 83088 3.61063E-5 41544 0 6.25E-4
2-29416140-C-G p.Glu1605Gln missense ALK 1 83044 1.20418E-5 41522 0 NA
2-29416140-C-T p.Glu1605Lys missense ALK 2 83044 2.40836E-5 41522 0 8.24226E-6
2-29416141-G-A p.Tyr1604Tyr synonymous ALK 3 83044 3.61254E-5 41522 0 4.12086E-5
2-29416142-T-C p.Tyr1604Cys missense ALK 2 83032 2.40871E-5 41516 0 6.37349E-5
2-29416144-A-G p.His1603His synonymous ALK 5 83030 6.02192E-5 41515 0 4.94486E-5
2-29416152-C-T p.Ala1601Thr missense ALK 6 82982 7.23048E-5 41491 0 4.94421E-5
2-29416157-G-T p.Pro1599His missense ALK 29 82968 3.49532E-4 41484 0 7.96432E-4
2-29416158-G-A p.Pro1599Ser missense ALK 7 82960 8.4378E-5 41480 0 1.59297E-4
2-29416160-G-A p.Ala1598Val missense ALK 1 82928 1.20587E-5 41464 0 1.89528E-4
2-29416168-G-A p.Ala1595Ala synonymous ALK 79 82862 9.53392E-4 41431 0 9.87953E-4
2-29416175-A-T p.Leu1593* stop_gained ALK 3 82774 3.62433E-5 41387 0 2.15864E-4
2-29416182-A-G p.Leu1591Leu synonymous ALK 1 82718 1.20893E-5 41359 0 NA
2-29416183-G-A p.Gly1590Gly synonymous ALK 2 82710 2.41809E-5 41355 0 7.97582E-6
2-29416185-C-T p.Gly1590Ser missense ALK 1 82722 1.20887E-5 41361 0 3.98727E-6
2-29416192-C-G p.Gln1587His missense ALK 1 82696 1.20925E-5 41348 0 1.19476E-5
2-29416193-T-A p.Gln1587Leu missense ALK 1 82700 1.20919E-5 41350 0 NA
2-29416201-G-A p.Tyr1584Tyr synonymous ALK 1 82668 1.20966E-5 41334 0 1.19487E-5
2-29416205-T-C p.Asn1583Ser missense ALK 1 82682 1.20945E-5 41341 0 1.64756E-5
2-29416205-T-A p.Asn1583Ile missense ALK 1 82682 1.20945E-5 41341 0 8.23778E-6
2-29416215-C-T p.Gly1580Arg missense ALK 4 82666 4.83875E-5 41333 0 2.78798E-5
2-29416216-A-G p.Cys1579Cys synonymous ALK 1 82660 1.20978E-5 41330 0 8.23737E-6
2-29416220-G-A p.Pro1578Leu missense ALK 1 82686 1.20939E-5 41343 0 3.98289E-6
2-29416229-C-G p.Arg1575Pro missense ALK 1 82648 1.20995E-5 41324 0 3.29473E-5
2-29416229-C-T p.Arg1575His missense ALK 1 82648 1.20995E-5 41324 0 3.18471E-5
2-29416240-C-T p.Leu1571Leu synonymous ALK 1 82702 1.20916E-5 41351 0 NA
2-29416250-T-G p.Glu1568Ala missense ALK 4 82704 4.83653E-5 41352 0 9.55292E-5
2-29416258-A-G p.Asn1565Asn synonymous ALK 1 82734 1.20869E-5 41367 0 8.23669E-6
2-29416259-T-C p.Asn1565Ser missense ALK 1 82744 1.20855E-5 41372 0 3.18613E-5
2-29416264-A-G p.Thr1563Thr synonymous ALK 1 82738 1.20863E-5 41369 0 8.23683E-6
2-29416270-C-T p.Ser1561Ser synonymous ALK 1 82760 1.20831E-5 41380 0 3.18532E-5
2-29416271-G-T p.Ser1561* stop_gained ALK 1 82780 1.20802E-5 41390 0 3.98216E-6
2-29416279-CT-GA p.Glu1558Val missense ALK 1 82796 1.20779E-5 41398 0 NA
2-29416295-G-GC p.Ala1553fs frameshift ALK 1 82788 1.2079E-5 41394 0 3.98222E-6
2-29416295-G-A p.Ala1553Val missense ALK 1 82790 1.20788E-5 41395 0 NA
2-29416296-C-A p.Ala1553Ser missense ALK 1 82768 1.2082E-5 41384 0 NA
2-29416297-C-T p.Gly1552Gly synonymous ALK 2 82778 2.4161E-5 41389 0 3.18512E-5
2-29416300-C-A p.Pro1551Pro synonymous ALK 1 82780 1.20802E-5 41390 0 3.98219E-6
2-29416307-C-A p.Arg1549Ile missense ALK 16 82796 1.93246E-4 41398 0 1.91083E-4
2-29416330-G-A p.Val1541Val synonymous ALK 1 82834 1.20723E-5 41417 0 1.64734E-5
2-29416330-G-C p.Val1541Val synonymous ALK 1 82834 1.20723E-5 41417 0 6.37146E-5
2-29416334-G-C p.Thr1540Ser missense ALK 2 82832 2.41453E-5 41416 0 3.18451E-5
2-29416335-T-C p.Thr1540Ala missense ALK 1 82820 1.20744E-5 41410 0 NA
2-29416345-C-T p.Glu1536Glu synonymous ALK 4 82858 4.82754E-5 41429 0 4.94193E-5
2-29416354-C-T p.Leu1533Leu synonymous ALK 1 82874 1.20665E-5 41437 0 NA
2-29416357-G-A p.Asn1532Asn synonymous ALK 701 82868 0.00845924 41434 21 0.0161825
2-29416359-T-C p.Asn1532Asp missense ALK 3 82886 3.61943E-5 41443 0 1.59248E-5
2-29416364-CTG-C p.Asp1529fs frameshift ALK 2 82928 2.41173E-5 41464 0 NA
2-29416366-G-C p.Asp1529Glu missense ALK 33890 82632 0.410132 41316 7442 0.479148
2-29416368-C-T p.Asp1529Asn missense ALK 1 82924 1.20592E-5 41462 0 1.99079E-5
2-29416377-CCTT-C p.Lys1525del conservative_inframe_deletion ALK 10 83004 1.20476E-4 41502 0 5.03525E-4
2-29416380-T-C p.Lys1525Glu missense ALK 17 83016 2.0478E-4 41508 1 7.64429E-4
2-29416399-C-A p.Lys1518Asn missense ALK 3 83164 3.60733E-5 41582 0 1.64731E-5
2-29416400-T-C p.Lys1518Arg missense ALK 1 83186 1.20213E-5 41593 0 NA
2-29416416-C-T p.Glu1513Lys missense ALK 1 83268 1.20094E-5 41634 0 3.29468E-5
2-29416423-C-G p.Trp1510Cys missense ALK 1 83288 1.20065E-5 41644 0 8.23683E-6
2-29416431-C-T p.Gly1508Ser missense ALK 2 83302 2.4009E-5 41651 0 3.18573E-5
2-29416447-C-T p.Leu1502Leu synonymous ALK 2 83330 2.4001E-5 41665 0 1.64731E-5
2-29416454-G-A p.Thr1500Ile missense ALK 1 83330 1.20005E-5 41665 0 8.23655E-6
2-29416472-C-T p.Gly1494Glu missense ALK 5 83320 6.00096E-5 41660 0 3.97712E-5
2-29416473-C-T p.Gly1494Arg missense ALK 28 83324 3.36038E-4 41662 0 0.00352467
2-29416477-GACCTTGTGCA-G p.Leu1489fs frameshift ALK 1 83314 1.20028E-5 41657 0 NA
2-29416480-C-T p.Lys1491Lys synonymous ALK 12 83324 1.44016E-4 41662 0 0.00125
2-29416481-T-C p.Lys1491Arg missense ALK 20984 83100 0.252515 41550 3126 0.34365
2-29416482-T-G p.Lys1491Gln missense ALK 2 83316 2.4005E-5 41658 0 7.41314E-5
2-29416486-C-T p.Leu1489Leu synonymous ALK 1 83312 1.20031E-5 41656 0 3.97782E-6
2-29416494-A-G p.Ser1487Pro missense ALK 2 83304 2.40085E-5 41652 0 8.23683E-6
2-29416496-GG-AT p.Pro1486Ile missense ALK 1 83308 1.20036E-5 41654 0 NA
2-29416499-G-A p.Pro1485Leu missense ALK 13 83296 1.5607E-4 41648 0 1.19331E-5
2-29416508-T-G p.Gln1482Pro missense ALK 1 83278 1.2008E-5 41639 0 8.23642E-6
2-29416520-A-G p.Met1478Thr missense ALK 1 83266 1.20097E-5 41633 0 1.40028E-4
2-29416528-G-A p.His1475His synonymous ALK 4 83262 4.80411E-5 41631 0 6.76498E-5
2-29416532-C-T p.Gly1474Glu missense ALK 2 83260 2.40211E-5 41630 0 7.9595E-6
2-29416534-C-G p.Gly1473Gly synonymous ALK 1 83254 1.20114E-5 41627 0 2.78554E-5
2-29416537-T-A p.Glu1472Asp missense ALK 2 83258 2.40217E-5 41629 0 2.38819E-5
2-29416542-C-T p.Val1471Met missense ALK 4 83252 4.80469E-5 41626 0 2.38865E-5
2-29416546-C-T p.Pro1469Pro synonymous ALK 15 83252 1.80176E-4 41626 0 1.27413E-4
2-29416548-G-A p.Pro1469Ser missense ALK 9 83252 1.08106E-4 41626 0 8.2409E-6
2-29416555-A-G p.Pro1466Pro synonymous ALK 2 83246 2.40252E-5 41623 0 0.0025
2-29416562-C-T p.Arg1464Gln missense ALK 2 83236 2.40281E-5 41618 0 3.98909E-6
2-29416572-T-C p.Ile1461Val missense ALK 79635 79960 0.995935 39980 39657 1.0
2-29416573-C-G p.Glu1460Asp missense ALK 1 83214 1.20172E-5 41607 0 NA
2-29416578-C-A p.Ala1459Ser missense ALK 3 83214 3.60516E-5 41607 0 2.5481E-4
2-29416609-G-A p.Ser1448Ser synonymous ALK 4 83124 4.81209E-5 41562 0 NA
2-29416612-G-T p.Thr1447Thr synonymous ALK 1 83122 1.20305E-5 41561 0 4.14048E-6
2-29416615-G-A p.Thr1446Thr synonymous ALK 8691 82912 0.104822 41456 486 0.11471
2-29416627-T-C p.Pro1442Pro synonymous ALK 1 83036 1.2043E-5 41518 0 NA
2-29416637-G-A p.Ala1439Val missense ALK 2 82986 2.41005E-5 41493 0 NA
2-29416646-C-T p.Arg1436His missense ALK 1 82946 1.2056E-5 41473 0 6.25E-4
2-29416647-GCTC-G p.Glu1435del conservative_inframe_deletion ALK 241 82952 0.00290529 41476 0 0.00493882
2-29416653-C-T p.Glu1434Lys missense ALK 1 82992 1.20494E-5 41496 0 8.61608E-6
2-29416668-G-T p.Gln1429Lys missense ALK 1 83024 1.20447E-5 41512 0 NA
2-29416672-A-G p.Ser1427Ser synonymous ALK 2 83006 2.40946E-5 41503 0 8.36624E-6
2-29416678-C-T p.Leu1425Leu synonymous ALK 16 83020 1.92725E-4 41510 0 6.37349E-5
2-29416683-G-C p.Leu1424Val missense ALK 2 83040 2.40848E-5 41520 0 NA
2-29416689-G-C p.Pro1422Ala missense ALK 1 83030 1.20438E-5 41515 0 NA
2-29416692-C-A p.Val1421Phe missense ALK 1 83032 1.20435E-5 41516 0 NA
2-29416694-C-G p.Gly1420Ala missense ALK 3 83034 3.61298E-5 41517 0 NA
2-29416695-C-T p.Gly1420Arg missense ALK 1 83032 1.20435E-5 41516 0 NA
2-29416698-C-T p.Glu1419Lys missense ALK 36 83066 4.3339E-4 41533 0 4.64159E-4
2-29416704-C-G p.Asp1417His missense ALK 1 83110 1.20322E-5 41555 0 4.01394E-6
2-29416705-C-T p.Lys1416Lys synonymous ALK 1 83116 1.20314E-5 41558 0 3.39363E-5
2-29416715-A-C p.Val1413Gly missense ALK 2 83166 2.40483E-5 41583 0 3.18512E-5
2-29416721-A-G p.Val1411Ala missense ALK 1 83176 1.20227E-5 41588 0 NA
2-29416723-T-C p.Lys1410Lys synonymous ALK 2 83190 2.40414E-5 41595 0 3.99537E-6
2-29416724-T-C p.Lys1410Arg missense ALK 2 83186 2.40425E-5 41593 0 NA
2-29416725-TCTCTTC-T p.Glu1408_Glu1409del conservative_inframe_deletion ALK 1 83188 1.2021E-5 41594 0 3.9938E-6
2-29416727-T-C p.Glu1409Gly missense ALK 1 83196 1.20198E-5 41598 0 NA
2-29416731-C-T p.Glu1408Lys missense ALK 2 83228 2.40304E-5 41614 0 1.67788E-5
2-29416733-T-G p.Glu1407Ala missense ALK 4 83226 4.80619E-5 41613 0 NA
2-29416742-A-G p.Leu1404Pro missense ALK 4 83240 4.80538E-5 41620 0 6.25E-4
2-29416743-G-C p.Leu1404Val missense ALK 2 83244 2.40258E-5 41622 0 4.18452E-5
2-29416743-G-A p.Leu1404Phe missense ALK 1 83244 1.20129E-5 41622 0 8.36904E-6
2-29416750-A-G p.Tyr1401Tyr synonymous ALK 649 83236 0.00779711 41618 19 0.0155434
2-29416753-T-G p.Glu1400Asp missense ALK 11 83250 1.32132E-4 41625 0 1.59276E-4
2-29416754-T-G p.Glu1400Ala missense ALK 2 83244 2.40258E-5 41622 0 NA
2-29416759-C-T p.Pro1398Pro synonymous ALK 4 83240 4.80538E-5 41620 0 3.18512E-5
2-29416759-C-G p.Pro1398Pro synonymous ALK 1 83240 1.20135E-5 41620 0 3.9939E-6
2-29416760-G-A p.Pro1398Leu missense ALK 9 83234 1.08129E-4 41617 0 1.27405E-4
2-29416767-C-T p.Ala1396Thr missense ALK 9 83204 1.08168E-4 41602 0 2.86661E-4
2-29416768-G-A p.Thr1395Thr synonymous ALK 15 83220 1.80245E-4 41610 0 4.79348E-5
2-29416783-C-T p.Pro1390Pro synonymous ALK 1 83152 1.20262E-5 41576 0 8.47429E-6
2-29416794-G-A c.4165-6C>T splice_region ALK 12618 82444 0.153049 41222 1087 0.20622
2-29419636-C-G p.Gln1388His missense+splice_region ALK 2 83158 2.40506E-5 41579 0 3.18431E-5
2-29419652-A-G p.Ile1383Thr missense ALK 2 83204 2.40373E-5 41602 0 NA
2-29419654-C-T p.Arg1382Arg synonymous ALK 4 83210 4.80711E-5 41605 0 NA
2-29419666-G-A p.Ile1378Ile synonymous ALK 2 83234 2.40286E-5 41617 0 8.23778E-6
2-29419668-T-C p.Ile1378Val missense ALK 2 83246 2.40252E-5 41623 0 NA
2-29419687-T-G p.Glu1371Asp missense ALK 1 83260 1.20106E-5 41630 0 3.97779E-6
2-29419721-C-T p.Arg1360Gln missense ALK 1 83196 1.20198E-5 41598 0 3.18451E-5
2-29419729-A-G c.4074-3T>C splice_region ALK 1 83176 1.20227E-5 41588 0 8.25518E-6
2-29420400-A-G c.4073+8T>C splice_region ALK 1 83268 1.20094E-5 41634 0 8.24525E-6
2-29420401-G-A c.4073+7C>T splice_region ALK 1 83276 1.20083E-5 41638 0 NA
2-29420403-C-T c.4073+5G>A splice_region ALK 1 83278 1.2008E-5 41639 0 3.97867E-6
2-29420429-G-T p.Pro1351His missense ALK 1 83290 1.20062E-5 41645 0 NA
2-29420435-T-A p.Asp1349Val missense ALK 1 83288 1.20065E-5 41644 0 3.97769E-6
2-29420441-C-T p.Arg1347Gln missense ALK 2 83296 2.40108E-5 41648 0 3.18221E-5
2-29420445-C-T p.Gly1346Ser missense ALK 1 83292 1.2006E-5 41646 0 8.23913E-6
2-29420453-G-A p.Thr1343Ile missense ALK 3 83290 3.60187E-5 41645 0 9.55414E-5
2-29420470-T-C p.Glu1337Glu synonymous ALK 1 83286 1.20068E-5 41643 0 NA
2-29420503-T-C p.Gly1326Gly synonymous ALK 2 83204 2.40373E-5 41602 0 1.19336E-5
2-29420523-A-G p.Trp1320Arg missense ALK 3 83100 3.61011E-5 41550 0 9.55475E-5
2-29420536-A-G p.Phe1315Phe synonymous ALK 2 82952 2.41103E-5 41476 0 NA
2-29420550-T-C c.3939-8A>G splice_region ALK 35 82700 4.23216E-4 41350 0 0.00166028
2-29430028-C-CTG c.3938+8_3938+9insCA splice_region ALK 1 82926 1.20589E-5 41463 0 8.24049E-6
2-29430031-A-AC c.3938+5_3938+6insG splice_region ALK 1 82938 1.20572E-5 41469 0 NA
2-29430031-A-T c.3938+6T>A splice_region ALK 1 82938 1.20572E-5 41469 0 NA
2-29430089-T-C p.Met1296Val missense ALK 2 83068 2.40767E-5 41534 0 NA
2-29430098-C-T p.Val1293Ile missense ALK 4 83018 4.81823E-5 41509 0 1.2738E-4
2-29430120-C-T p.Lys1285Lys synonymous ALK 3 82896 3.61899E-5 41448 0 1.19412E-5
2-29430120-C-A p.Lys1285Asn missense ALK 1 82894 1.20636E-5 41447 0 NA
2-29430135-C-T p.Ala1280Ala synonymous ALK 1 82678 1.20951E-5 41339 0 8.25723E-6
2-29430136-G-A p.Ala1280Val missense+splice_region ALK 1 82646 1.20998E-5 41323 0 6.36943E-5
2-29430144-G-GGGA c.3837-7_3837-6insTCC splice_region ALK 125 82556 0.00151412 41278 2 0.00296178
2-29430910-C-T c.792+1G>A splice_donor ALK 113 9518 0.0118722 4759 0 0.0196835
2-29432674-C-T p.Gly1272Arg missense ALK 3 83158 3.60759E-5 41579 0 8.24647E-6
2-29432674-C-G p.Gly1272Arg missense ALK 1 83158 1.20253E-5 41579 0 NA
2-29432675-G-A p.Phe1271Phe synonymous ALK 1 83156 1.20256E-5 41578 0 3.18512E-5
2-29432678-G-A p.Asp1270Asp synonymous ALK 1 83180 1.20221E-5 41590 0 4.12256E-5
2-29432686-T-A p.Ile1268Phe missense ALK 1 83192 1.20204E-5 41596 0 NA
2-29432700-C-A p.Gly1263Val missense ALK 1 83190 1.20207E-5 41595 0 NA
2-29432703-G-A p.Pro1262Leu missense ALK 1 83196 1.20198E-5 41598 0 NA
2-29432733-G-T p.Ala1252Asp missense ALK 2 83184 2.40431E-5 41592 0 NA
2-29432739-A-G p.Ile1250Thr missense ALK 1 83168 1.20239E-5 41584 0 7.95748E-6
2-29436843-G-A c.3743+7C>T splice_region ALK 1 83136 1.20285E-5 41568 0 NA
2-29436851-G-A p.Arg1248* stop_gained ALK 10 83186 1.20213E-4 41593 0 5.17026E-5
2-29436868-T-C p.Glu1242Gly missense ALK 1 83202 1.20189E-5 41601 0 NA
2-29436897-G-A p.Asp1232Asp synonymous ALK 1 83176 1.20227E-5 41588 0 NA
2-29436901-C-T p.Arg1231Gln missense ALK 9 83164 1.0822E-4 41582 0 6.25E-4
2-29436902-G-A p.Arg1231Trp missense ALK 1 83166 1.20241E-5 41583 0 7.15973E-5
2-29436908-C-A p.Val1229Leu missense ALK 6 83152 7.2157E-5 41576 0 3.97772E-6
2-29436909-G-C p.His1228Gln missense ALK 2 83152 2.40523E-5 41576 0 NA
2-29436909-G-A p.His1228His synonymous ALK 1 83152 1.20262E-5 41576 0 1.59112E-5
2-29436912-C-T p.Leu1227Leu synonymous ALK 1 83162 1.20247E-5 41581 0 NA
2-29436933-G-C p.Ser1220Ser synonymous ALK 1 83014 1.20462E-5 41507 0 5.78637E-5
2-29443572-C-T p.Pro1215Pro splice_region+synonymous ALK 4 82634 4.84062E-5 41317 0 8.27157E-5
2-29443573-G-A p.Pro1215Leu missense+splice_region ALK 1 82698 1.20922E-5 41349 0 3.30704E-5
2-29443573-G-T p.Pro1215Gln missense+splice_region ALK 2 82698 2.41844E-5 41349 0 3.99623E-6
2-29443576-C-T p.Arg1214His missense ALK 3 82690 3.62801E-5 41345 0 1.65325E-5
2-29443582-C-T p.Arg1212His missense ALK 1 82734 1.20869E-5 41367 0 1.59815E-5
2-29443584-G-T p.Thr1211Thr synonymous ALK 9 82766 1.0874E-4 41383 0 3.88327E-4
2-29443591-C-T p.Arg1209Gln missense ALK 1 82724 1.20884E-5 41362 0 1.59841E-5
2-29443592-G-A p.Arg1209* stop_gained ALK 1 82768 1.2082E-5 41384 0 2.48012E-5
2-29443604-T-C p.Lys1205Glu missense ALK 1 82766 1.20823E-5 41383 0 NA
2-29443605-G-A p.Leu1204Leu synonymous ALK 1 82752 1.20843E-5 41376 0 NA
2-29443611-T-TCC p.Asp1203fs frameshift ALK 1 82598 1.21068E-5 41299 0 NA
2-29443612-C-T p.Gly1202Glu missense ALK 1 82796 1.20779E-5 41398 0 7.9915E-6
2-29443614-C-G p.Gly1201Gly synonymous ALK 2 82828 2.41464E-5 41414 0 NA
2-29443617-C-G p.Ala1200Ala synonymous ALK 126 82882 0.00152023 41441 6 0.0041929
2-29443617-C-T p.Ala1200Ala synonymous ALK 13 82886 1.56842E-4 41443 0 0.00125156
2-29443617-C-A p.Ala1200Ala synonymous ALK 3 82886 3.61943E-5 41443 0 1.59577E-5
2-29443618-G-A p.Ala1200Val missense ALK 11 82900 1.3269E-4 41450 0 1.15754E-4
2-29443618-G-C p.Ala1200Gly missense ALK 1 82900 1.20627E-5 41450 0 8.26815E-6
2-29443622-T-A p.Met1199Leu missense ALK 1 83060 1.20395E-5 41530 0 3.98276E-6
2-29443622-T-G p.Met1199Leu missense ALK 1 83062 1.20392E-5 41531 0 NA
2-29443623-G-A p.Leu1198Leu synonymous ALK 119 83062 0.00143266 41531 1 0.0016241
2-29443626-C-T p.Glu1197Glu synonymous ALK 2 83068 2.40767E-5 41534 0 1.65087E-5
2-29443641-C-A p.Arg1192Arg synonymous ALK 1 83088 1.20354E-5 41544 0 NA
2-29443642-C-T p.Arg1192Gln missense ALK 1 83090 1.20351E-5 41545 0 NA
2-29443643-G-A p.Arg1192Trp missense ALK 1 83090 1.20351E-5 41545 0 1.99026E-5
2-29443645-G-T p.Pro1191His missense ALK 6 83114 7.219E-5 41557 0 7.96045E-6
2-29443669-A-G p.Ile1183Thr missense ALK 3 83176 3.60681E-5 41588 0 3.1841E-5
2-29443676-G-A p.Arg1181Cys missense ALK 2 83208 2.40361E-5 41604 0 7.432E-5
2-29443693-T-C p.Asn1175Ser missense ALK 1 83222 1.20161E-5 41611 0 3.30677E-5
2-29443704-G-A c.3516-3C>T splice_region ALK 4 83226 4.80619E-5 41613 0 3.1835E-5
2-29443874-G-A p.Pro147Ser missense ALK 1 75616 1.32247E-5 37808 0 2.76794E-4
2-29443884-G-T p.Pro143Pro synonymous ALK 4 74528 5.36711E-5 37264 0 6.58727E-6
2-29443895-C-T p.Val140Met missense ALK 3 73030 4.1079E-5 36515 0 5.73723E-5
2-29443912-G-T p.Thr134Asn missense ALK 1 70668 1.41507E-5 35334 0 9.55414E-5
2-29443921-G-T p.Ala131Glu missense ALK 9 69614 1.29284E-4 34807 0 2.86624E-4
2-29443924-G-A p.Pro130Leu missense ALK 1 69350 1.44196E-5 34675 0 1.2738E-4
2-29443927-G-C p.Ser129Cys missense ALK 1 69120 1.44676E-5 34560 0 5.99592E-5
2-29443929-G-C p.His128Gln missense ALK 16 68890 2.32254E-4 34445 0 6.25E-4
2-29443936-G-A p.Ser126Phe missense ALK 1 68038 1.46977E-5 34019 0 3.18613E-5
2-29443938-G-A p.Ser125Ser synonymous ALK 2 67828 2.94863E-5 33914 0 NA
2-29443945-G-A p.Pro123Leu missense ALK 6 67142 8.93628E-5 33571 0 1.91168E-4
2-29443946-G-A p.Pro123Ser missense ALK 1 67002 1.49249E-5 33501 0 NA
2-29443948-T-C p.His122Arg missense ALK 1 66786 1.49732E-5 33393 0 3.18776E-5
2-29443965-G-T p.Thr116Thr synonymous ALK 1 64510 1.55015E-5 32255 0 6.69756E-6
2-29443980-C-T p.Leu111Leu synonymous ALK 1 61716 1.62033E-5 30858 0 NA
2-29443980-CAG-C p.Leu111fs frameshift ALK 9 61716 1.45829E-4 30858 0 1.91988E-4
2-29443981-AG-A p.Leu111fs frameshift ALK 1 61504 1.62591E-5 30752 0 NA
2-29443983-G-C p.Pro110Pro synonymous ALK 1 61168 1.63484E-5 30584 0 2.01445E-5
2-29443986-G-A p.Cys109Cys synonymous ALK 21 60536 3.46901E-4 30268 0 6.44745E-4
2-29443986-G-C p.Cys109Trp missense ALK 8 60536 1.32153E-4 30268 0 NA
2-29444010-C-G p.Gln101His missense ALK 2 57102 3.5025E-5 28551 1 NA
2-29444016-C-T p.Thr99Thr synonymous ALK 3 56162 5.34169E-5 28081 0 6.76114E-5
2-29444017-G-A p.Thr99Met missense ALK 3 56160 5.34188E-5 28080 0 1.59388E-4
2-29444023-T-C p.Gln97Arg missense ALK 1 55676 1.79611E-5 27838 0 NA
2-29444043-C-T p.Ser90Ser synonymous ALK 1 54232 1.84393E-5 27116 0 6.25E-4
2-29444044-G-A p.Ser90Leu missense ALK 2 54208 3.68949E-5 27104 0 1.35807E-5
2-29444048-TC-T p.Lys89fs frameshift ALK 5 54046 9.25138E-5 27023 0 9.56328E-5
2-29444073-G-A p.Thr80Thr synonymous ALK 1 53320 1.87547E-5 26660 0 NA
2-29444076-G-T p.Phe79Leu missense ALK 11523 52932 0.217694 26466 1518 0.33739
2-29444078-A-G p.Phe79Leu missense ALK 1 53212 1.87928E-5 26606 0 2.04093E-5
2-29444081-A-G p.Cys78Arg missense ALK 1 53136 1.88196E-5 26568 0 6.8055E-6
2-29444085-C-CTTCTGCCTTAGAAGCA p.Leu76fs frameshift ALK 2 53086 3.76747E-5 26543 0 2.0436E-4
2-29444087-ACT-A p.Gln75fs frameshift ALK 2 53046 3.77031E-5 26523 0 2.0436E-4
2-29444095-C-T p.Trp73* stop_gained ALK 44894 46698 0.961369 23349 21687 0.99625
2-29444096-A-G p.Trp73Arg missense ALK 1 52868 1.8915E-5 26434 0 7.00967E-5
2-29444107-G-T c.210-4C>A splice_region ALK 2 52710 3.79435E-5 26355 0 9.5584E-5
2-29445230-G-A p.Leu1165Leu synonymous ALK 1 83236 1.2014E-5 41618 0 1.66359E-5
2-29445233-G-A p.Phe1164Phe synonymous ALK 2 83232 2.40292E-5 41616 0 NA
2-29445243-TC-GT p.Glu1161Thr missense ALK 1 83220 1.20163E-5 41610 0 NA
2-29445244-C-T p.Glu1161Lys missense ALK 1 83224 1.20158E-5 41612 0 3.3162E-5
2-29445267-G-C p.Pro1153Arg missense ALK 1 83192 1.20204E-5 41596 0 3.97867E-6
2-29445272-C-T p.Thr1151Thr splice_region+synonymous ALK 2 83156 2.40512E-5 41578 0 9.09572E-5
2-29445282-G-A c.3451-8C>T splice_region ALK 1 83150 1.20265E-5 41575 0 3.97921E-6
2-29445388-C-G p.Val1149Leu missense ALK 1 83140 1.20279E-5 41570 0 NA
2-29445401-G-A p.Pro1144Pro synonymous ALK 1 83164 1.20244E-5 41582 0 3.9776E-6
2-29445413-G-A p.Asn1140Asn synonymous ALK 8 83122 9.62441E-5 41561 0 5.56943E-5
2-29445417-G-A p.Pro1139Leu missense ALK 1 83114 1.20317E-5 41557 0 6.25E-4
2-29445423-C-T p.Gly1137Glu missense ALK 1 83084 1.2036E-5 41542 0 5.05051E-4
2-29445424-C-G p.Gly1137Arg missense ALK 2 83084 2.4072E-5 41542 0 3.9788E-6
2-29445424-C-T p.Gly1137Arg missense ALK 6 83084 7.22161E-5 41542 0 6.37471E-5
2-29445425-G-A p.Ser1136Ser synonymous ALK 1016 83032 0.0122362 41516 34 0.0238202
2-29445428-C-T p.Val1135Val synonymous ALK 1 83054 1.20404E-5 41527 0 7.95697E-6
2-29445432-T-A p.Gln1134Leu missense ALK 1 83054 1.20404E-5 41527 0 3.18695E-5
2-29445458-G-T p.Gly1125Gly synonymous ALK 20068 81900 0.245031 40950 2974 0.336942
2-29445458-G-A p.Gly1125Gly synonymous ALK 1 82688 1.20937E-5 41344 0 NA
2-29445464-G-A p.Gly1123Gly synonymous ALK 4 82534 4.84649E-5 41267 0 2.5834E-5
2-29445467-C-T p.Leu1122Leu synonymous ALK 3 82506 3.6361E-5 41253 0 8.68236E-6
2-29445470-A-T p.Gly1121Gly synonymous ALK 1 82362 1.21415E-5 41181 0 0.00101626
2-29445471-C-T p.Gly1121Asp missense+splice_region ALK 5 82374 6.06988E-5 41187 0 1.27453E-4
2-29445476-G-A c.3360-3C>T splice_region ALK 1 82266 1.21557E-5 41133 0 4.00134E-6
2-29446201-C-T c.3359+7G>A splice_region ALK 2 82194 2.43327E-5 41097 0 2.79553E-5
2-29446202-G-A c.3359+6C>T splice_region ALK 23567 81274 0.28997 40637 3852 0.405625
2-29446209-G-A p.Arg1120Trp missense+splice_region ALK 1 82622 1.21033E-5 41311 0 2.47386E-5
2-29446213-G-T p.Leu1118Leu synonymous ALK 7 82758 8.4584E-5 41379 0 9.55475E-5
2-29446217-G-A p.Thr1117Ile missense ALK 2 82850 2.414E-5 41425 0 NA
2-29446229-C-T p.Arg1113Gln missense ALK 3 83016 3.61376E-5 41508 0 5.17569E-5
2-29446231-C-T p.Pro1112Pro synonymous ALK 21 83038 2.52896E-4 41519 0 5.52222E-4
2-29446232-G-A p.Pro1112Leu missense ALK 1 83054 1.20404E-5 41527 0 6.25E-4
2-29446237-C-G p.Glu1110Asp missense ALK 1 83100 1.20337E-5 41550 0 3.97978E-6
2-29446254-T-C p.Ile1105Val missense ALK 2 83152 2.40523E-5 41576 0 3.97814E-6
2-29446264-C-T p.Lys1101Lys synonymous ALK 1 83170 1.20236E-5 41585 0 NA
2-29446267-G-A p.Gly1100Gly synonymous ALK 5 83172 6.01164E-5 41586 1 4.94454E-5
2-29446276-G-A p.Cys1097Cys synonymous ALK 6 83168 7.21431E-5 41584 0 1.91058E-4
2-29446288-G-A p.Asn1093Asn synonymous ALK 4 83146 4.81081E-5 41573 0 8.24321E-6
2-29446296-C-T p.Asp1091Asn missense ALK 2 83082 2.40726E-5 41541 0 3.18532E-5
2-29446307-G-GCCTTGCTGAAACTTCCTTAGGC p.Thr1087fs frameshift ALK 1 83026 1.20444E-5 41513 0 NA
2-29446310-G-A p.Ser1086Leu missense ALK 15 82964 1.80801E-4 41482 1 2.54956E-4
2-29446317-G-A p.Arg1084Cys missense ALK 1 82850 1.207E-5 41425 0 3.18695E-5
2-29446318-G-A p.Leu1083Leu synonymous ALK 1 82834 1.20723E-5 41417 0 NA
2-29446331-T-G p.Lys1079Thr missense ALK 1 82608 1.21054E-5 41304 0 7.56418E-5
2-29446333-G-T p.Tyr1078* stop_gained ALK 1 82540 1.21153E-5 41270 0 NA
2-29446357-C-T p.Gln1070Gln synonymous ALK 4 81856 4.88663E-5 40928 0 3.18573E-5
2-29446369-C-G p.Leu1066Leu synonymous ALK 1 81202 1.2315E-5 40601 0 NA
2-29446370-A-G p.Leu1066Pro missense ALK 2 81142 2.46481E-5 40571 0 NA
2-29446375-C-T p.Gln1064Gln synonymous ALK 21 80878 2.5965E-4 40439 0 0.0060423
2-29446381-C-T p.Lys1062Lys synonymous ALK 1 80476 1.24261E-5 40238 0 3.18593E-5
2-29446385-C-T p.Arg1061Gln missense ALK 11 80164 1.37219E-4 40082 0 1.01356E-4
2-29446386-G-A p.Arg1061Trp missense ALK 3 79930 3.75328E-5 39965 0 4.22304E-5
2-29446388-C-T p.Arg1060His missense ALK 2 79674 2.51023E-5 39837 0 9.55718E-5
2-29446400-G-A c.3173-6C>T splice_region ALK 2 78898 2.53492E-5 39449 0 3.18552E-5
2-29448329-A-G p.Ile1057Thr missense+splice_region ALK 5 82264 6.07799E-5 41132 0 2.02331E-5
2-29448339-C-T p.Gly1054Ser missense ALK 3 82250 3.64742E-5 41125 0 9.5584E-5
2-29448340-G-A p.Ser1053Ser synonymous ALK 2 82288 2.43049E-5 41144 0 2.74218E-5
2-29448353-A-G p.Val1049Ala missense ALK 2 82320 2.42954E-5 41160 0 NA
2-29448360-C-T p.Ala1047Thr missense ALK 19 82248 2.31009E-4 41124 0 0.00100806
2-29448361-G-A p.Ala1046Ala synonymous ALK 1 82302 1.21504E-5 41151 0 1.77073E-5
2-29448366-C-T p.Val1045Met missense ALK 2 82254 2.43149E-5 41127 0 7.9263E-5
2-29448373-A-G p.Ser1042Ser synonymous ALK 1 82262 1.21563E-5 41131 0 1.20622E-5
2-29448376-G-A p.Thr1041Thr synonymous ALK 3 82244 3.64768E-5 41122 0 8.76639E-6
2-29448383-A-G p.Val1039Ala missense ALK 1 82196 1.2166E-5 41098 0 NA
2-29448384-C-T p.Val1039Met missense ALK 10 82192 1.21666E-4 41096 0 1.31651E-4
2-29448397-C-T p.Ser1034Ser synonymous ALK 24 81982 2.92747E-4 40991 0 2.64168E-4
2-29448401-A-T p.Leu1033His missense ALK 1 81926 1.22061E-5 40963 0 0.00125
2-29448403-T-A p.Pro1032Pro synonymous ALK 1 81864 1.22154E-5 40932 0 2.0353E-5
2-29448409-GTGT-G p.His1030del disruptive_inframe_deletion ALK 32 80856 3.95765E-4 40428 0 0.0162508
2-29448409-GTGTGGCTCC-G p.Glu1028_His1030del disruptive_inframe_deletion ALK 1 81626 1.2251E-5 40813 0 0.00187334
2-29448410-T-G p.His1030Pro missense ALK 4 78048 5.12505E-5 39024 0 0.392749
2-29448411-G-A p.His1030Tyr missense ALK 5 80914 6.1794E-5 40457 0 NA
2-29448412-T-G p.Pro1029Pro synonymous ALK 182 78800 0.00230964 39400 0 0.092145
2-29448414-GCTCC-G p.Glu1028fs frameshift ALK 54 80062 6.74477E-4 40031 0 0.0177106
2-29448418-C-T p.Pro1027Pro synonymous ALK 3 80564 3.72375E-5 40282 0 6.39386E-5
2-29448419-G-A p.Pro1027Leu missense ALK 14 80346 1.74246E-4 40173 0 5.11738E-4
2-29448423-T-G p.Thr1026Pro missense ALK 1 80332 1.24483E-5 40166 0 0.0362538
2-29448426-G-C p.Pro1025Ala missense ALK 1 80302 1.2453E-5 40151 0 NA
2-29449785-T-C c.3067+3A>G splice_region ALK 2 82426 2.42642E-5 41213 0 8.24729E-6
2-29449785-T-G c.3067+3A>C splice_region ALK 1 82426 1.21321E-5 41213 0 NA
2-29449788-C-T p.Val1023Met missense+splice_region ALK 1 82548 1.21142E-5 41274 0 3.18593E-5
2-29449790-A-G p.Ile1022Thr missense+splice_region ALK 1 82600 1.21065E-5 41300 0 8.24593E-6
2-29449798-G-T p.Val1019Val synonymous ALK 140 82704 0.00169278 41352 0 0.0125
2-29449800-C-T p.Val1019Ile missense ALK 3 82752 3.62529E-5 41376 0 6.59467E-5
2-29449802-C-T p.Gly1018Asp missense ALK 1 82846 1.20706E-5 41423 0 NA
2-29449813-C-T p.Leu1014Leu synonymous ALK 1 83026 1.20444E-5 41513 0 NA
2-29449815-G-A p.Leu1014Leu synonymous ALK 1 83030 1.20438E-5 41515 0 NA
2-29449819-C-T p.Thr1012Thr synonymous ALK 15392 82666 0.186195 41333 1507 0.250252
2-29449820-G-A p.Thr1012Met missense ALK 28 83100 3.36943E-4 41550 0 0.004375
2-29449824-C-T p.Gly1011Arg missense ALK 3 83160 3.6075E-5 41580 0 0.00100705
2-29449825-G-A p.His1010His synonymous ALK 6 83154 7.21553E-5 41577 0 0.00100705
2-29449847-T-C p.Lys1003Arg missense ALK 1 83250 1.2012E-5 41625 0 NA
2-29449856-T-C p.Glu1000Gly missense ALK 1 83268 1.20094E-5 41634 0 2.47117E-5
2-29449875-C-T p.Glu994Lys missense ALK 2 83286 2.40136E-5 41643 0 3.29484E-5
2-29449876-G-A p.Asp993Asp synonymous ALK 4 83292 4.80238E-5 41646 0 1.59062E-5
2-29449877-T-C p.Asp993Gly missense ALK 2 83286 2.40136E-5 41643 0 NA
2-29449882-C-T p.Glu991Glu synonymous ALK 1 83292 1.2006E-5 41646 0 NA
2-29449890-G-A p.His989Tyr missense ALK 1 83278 1.2008E-5 41639 0 NA
2-29449927-G-A p.His976His synonymous ALK 12 83068 1.4446E-4 41534 0 3.95394E-4
2-29450445-A-G p.Leu970Ser missense ALK 1 83296 1.20054E-5 41648 0 NA
2-29450451-G-T p.Pro968Gln missense ALK 1 83310 1.20034E-5 41655 0 NA
2-29450453-G-T p.Thr967Thr synonymous ALK 1 83312 1.20031E-5 41656 0 5.03525E-4
2-29450461-G-A p.Leu965Leu synonymous ALK 1 83330 1.20005E-5 41665 0 3.18613E-5
2-29450479-T-C p.Ile959Val missense ALK 2 83350 2.39952E-5 41675 0 1.64728E-5
2-29450480-G-A p.Phe958Phe synonymous ALK 1 83356 1.19967E-5 41678 0 NA
2-29450487-A-G p.Val956Ala missense ALK 1 83364 1.19956E-5 41682 0 NA
2-29450498-C-T p.Gly952Gly synonymous ALK 1 83370 1.19947E-5 41685 0 3.18654E-5
2-29450503-C-A p.Asp951Tyr missense ALK 1 83354 1.1997E-5 41677 0 NA
2-29450510-G-A p.Pro948Pro synonymous ALK 9 83350 1.07978E-4 41675 0 3.29462E-5
2-29450513-G-C p.Asp947Glu missense ALK 1 83336 1.19996E-5 41668 0 NA
2-29450516-ATTGT-A p.Asn945fs frameshift ALK 1 83332 1.20002E-5 41666 0 3.97662E-6
2-29450522-T-C p.Ser944Ser synonymous ALK 1 83330 1.20005E-5 41665 0 NA
2-29450533-T-G p.Asn941His missense ALK 2 83282 2.40148E-5 41641 0 3.18695E-5
2-29450536-C-A p.Gly940Cys missense+splice_region ALK 1 83270 1.20091E-5 41635 0 1.64775E-5
2-29450537-G-A p.Gly939Gly splice_region+synonymous ALK 10 83260 1.20106E-4 41630 0 0.00100705
2-29450543-G-A c.2816-5C>T splice_region ALK 2 83214 2.40344E-5 41607 0 3.18573E-5
2-29450545-A-G c.2816-7T>C splice_region ALK 1 83196 1.20198E-5 41598 0 8.24022E-6
2-29451752-A-G p.Ile938Thr missense+splice_region ALK 1 80806 1.23753E-5 40403 0 6.42674E-5
2-29451763-G-A p.Gly934Gly synonymous ALK 1 81068 1.23353E-5 40534 0 2.48983E-5
2-29451769-T-G p.Gly932Gly synonymous ALK 1 81310 1.22986E-5 40655 0 NA
2-29451776-G-A p.Ser930Leu missense ALK 3 81380 3.68641E-5 40690 0 8.3051E-6
2-29451782-C-CA p.Cys928fs frameshift ALK 7 81210 8.61963E-5 40605 0 1.20942E-5
2-29451782-CA-C p.Cys928fs frameshift ALK 1 81242 1.23089E-5 40621 0 NA
2-29451783-A-AC p.Cys928fs frameshift ALK 155 79712 0.0019445 39856 1 0.00143777
2-29451783-A-ACC p.Cys928fs frameshift ALK 7 79886 8.76249E-5 39943 0 6.65159E-5
2-29451783-AC-A p.Cys928fs frameshift ALK 1 79886 1.25178E-5 39943 0 8.84783E-6
2-29451783-A-AAC p.Cys928fs frameshift ALK 1 79882 1.25185E-5 39941 0 NA
2-29451783-A-AACC p.Gly927dup conservative_inframe_insertion ALK 1 79886 1.25178E-5 39943 0 NA
2-29451789-CT-C p.Cys928fs frameshift ALK 3 81226 3.6934E-5 40613 0 4.03633E-6
2-29451790-T-C p.Gly925Gly synonymous ALK 33 72030 4.58142E-4 36015 0 0.0587362
2-29451790-T-TC p.Gly926fs frameshift ALK 24 74894 3.20453E-4 37447 0 1.19026E-4
2-29451792-CA-C p.Gly925fs frameshift ALK 3 78330 3.82995E-5 39165 0 4.03379E-6
2-29451793-A-C p.Gly924Gly synonymous ALK 58 68202 8.50415E-4 34101 0 0.0745425
2-29451793-A-AC p.Gly925fs frameshift ALK 3 75916 3.95174E-5 37958 0 NA
2-29451798-CTCCGAAA-C p.Phe921fs frameshift ALK 40 77620 5.15331E-4 38810 0 0.0137963
2-29451799-T-C p.Gly922Gly synonymous ALK 57 68638 8.30444E-4 34319 0 0.0448627
2-29451801-C-T p.Gly922Arg missense ALK 1 77834 1.28479E-5 38917 0 2.50267E-5
2-29451801-CGA-C p.Phe921fs frameshift ALK 1 77830 1.28485E-5 38915 0 4.20052E-6
2-29451802-G-C p.Phe921Leu missense ALK 45 70228 6.4077E-4 35114 0 0.0275909
2-29451802-G-A p.Phe921Phe synonymous ALK 3 76046 3.94498E-5 38023 0 1.79921E-4
2-29451802-GA-CC p.Phe921Trp missense ALK 2 76054 2.62971E-5 38027 0 NA
2-29451803-A-C p.Phe921Cys missense ALK 27 76078 3.54899E-4 38039 0 0.00579151
2-29451811-T-C p.Arg918Arg synonymous ALK 9 77882 1.15559E-4 38941 0 0.0048
2-29451811-T-A p.Arg918Ser missense ALK 1 79236 1.26205E-5 39618 0 4.0E-4
2-29451813-T-C p.Arg918Gly missense ALK 1 79672 1.25515E-5 39836 0 3.64123E-5
2-29451815-G-T p.Thr917Lys missense ALK 1 80266 1.24586E-5 40133 0 1.07739E-4
2-29451815-G-A p.Thr917Ile missense ALK 7 80344 8.71254E-5 40172 0 3.96933E-5
2-29451817-C-T p.Glu916Glu synonymous ALK 1 80694 1.23925E-5 40347 0 4.109E-6
2-29451818-T-C p.Glu916Gly missense ALK 2 80786 2.47568E-5 40393 0 4.33013E-5
2-29451819-C-T p.Glu916Lys missense ALK 1 81046 1.23387E-5 40523 0 NA
2-29451821-C-A p.Trp915Leu missense ALK 1 81284 1.23025E-5 40642 0 NA
2-29451822-A-C p.Trp915Gly missense ALK 1 81008 1.23445E-5 40504 0 0.0060423
2-29451833-T-C p.Lys911Arg missense ALK 2 82064 2.43712E-5 41032 0 NA
2-29451838-G-A p.Ala909Ala synonymous ALK 1 82382 1.21386E-5 41191 0 5.03525E-4
2-29451843-G-A p.Gln908* stop_gained ALK 1 82558 1.21127E-5 41279 0 NA
2-29451847-G-A p.Cys906Cys synonymous ALK 1 82636 1.21013E-5 41318 0 3.26947E-5
2-29451853-A-T p.His904Gln missense ALK 1 82848 1.20703E-5 41424 0 5.03525E-4
2-29451862-G-A p.Thr901Thr synonymous ALK 4 82976 4.82067E-5 41488 0 1.66306E-5
2-29451871-C-G p.Glu898Asp missense ALK 2 83114 2.40633E-5 41557 0 NA
2-29451889-G-A p.Ala892Ala synonymous ALK 86 83198 0.00103368 41599 0 0.003125
2-29451891-C-T p.Ala892Thr missense ALK 1 83198 1.20195E-5 41599 0 3.97826E-6
2-29451925-T-A p.Gly880Gly synonymous ALK 1 83120 1.20308E-5 41560 0 8.37311E-6
2-29451926-C-T p.Gly880Glu missense ALK 1 83104 1.20331E-5 41552 0 NA
2-29451935-G-A c.2633-3C>T splice_region ALK 7 83036 8.43008E-5 41518 0 2.52674E-5
2-29451936-C-T c.2633-4G>A splice_region ALK 16 82994 1.92785E-4 41497 0 1.91314E-4
2-29451937-G-A c.2633-5C>T splice_region ALK 1 82986 1.20502E-5 41493 0 1.19627E-5
2-29451938-G-A c.2633-6C>T splice_region ALK 1 82964 1.20534E-5 41482 0 2.53425E-5
2-29455162-C-T c.2632+8G>A splice_region ALK 7 83172 8.41629E-5 41586 0 6.25E-4
2-29455171-TG-T p.Ala877fs frameshift ALK 1 83280 1.20077E-5 41640 0 NA
2-29455175-G-C p.Ala876Gly missense ALK 2 83290 2.40125E-5 41645 0 NA
2-29455179-C-T p.Gly875Arg missense ALK 8 83314 9.60223E-5 41657 0 6.37146E-5
2-29455180-G-A p.Ser874Ser synonymous ALK 3 83304 3.60127E-5 41652 0 4.94201E-5
2-29455188-C-T p.Gly872Ser missense ALK 3 83340 3.59971E-5 41670 0 7.95336E-6
2-29455189-G-A p.Asn871Asn synonymous ALK 57 83338 6.83962E-4 41669 0 0.00100705
2-29455199-A-T p.Leu868Gln missense ALK 1 83352 1.19973E-5 41676 0 3.18451E-5
2-29455204-C-T p.Ser866Ser synonymous ALK 8 83346 9.59854E-5 41673 0 4.94193E-5
2-29455205-G-A p.Ser866Leu missense ALK 1 83354 1.1997E-5 41677 0 8.23655E-6
2-29455207-G-A p.Ser865Ser synonymous ALK 2 83364 2.39912E-5 41682 0 NA
2-29455225-C-G p.Glu859Asp missense ALK 62 83370 7.43673E-4 41685 0 0.00101917
2-29455233-G-A p.His857Tyr missense ALK 1 83370 1.19947E-5 41685 0 5.03525E-4
2-29455237-C-T p.Thr855Thr synonymous ALK 4 83360 4.79846E-5 41680 0 1.64734E-5
2-29455242-C-T p.Asp854Asn missense ALK 2 83364 2.39912E-5 41682 0 2.47109E-5
2-29455248-T-C p.Lys852Glu missense ALK 12 83374 1.4393E-4 41687 0 2.47109E-5
2-29455254-C-T p.Gly850Arg missense ALK 5 83362 5.99794E-5 41681 0 3.18451E-5
2-29455255-G-A p.Tyr849Tyr synonymous ALK 1 83358 1.19964E-5 41679 0 1.98828E-5
2-29455256-T-G p.Tyr849Ser missense ALK 1 83350 1.19976E-5 41675 0 NA
2-29455267-A-G p.Gly845Gly synonymous ALK 56170 82946 0.677188 41473 19565 0.78625
2-29455270-A-G p.Gly844Gly synonymous ALK 14 83346 1.67974E-4 41673 0 5.16956E-5
2-29455275-C-T p.Gly843Arg missense ALK 2 83340 2.39981E-5 41670 0 2.47215E-5
2-29455276-G-A p.Ala842Ala synonymous ALK 62 83334 7.43994E-4 41667 0 0.0025
2-29455297-C-T p.Pro835Pro synonymous ALK 2 83312 2.40061E-5 41656 0 5.03525E-4
2-29455298-G-A p.Pro835Leu missense ALK 2 83308 2.40073E-5 41654 0 1.9101E-4
2-29455299-G-A p.Pro835Ser missense ALK 4 83310 4.80134E-5 41655 0 2.47419E-5
2-29455304-C-T p.Gly833Glu missense ALK 1 83312 1.20031E-5 41656 0 NA
2-29455305-C-A p.Gly833* stop_gained ALK 1 83312 1.20031E-5 41656 0 NA
2-29455308-C-T p.Asp832Asn missense ALK 2 83306 2.40079E-5 41653 0 NA
2-29455314-T-A p.Met830Leu missense+splice_region ALK 1 83284 1.20071E-5 41642 0 8.259E-6
2-29455322-G-C c.2488-8C>G splice_region ALK 1 83218 1.20166E-5 41609 0 6.36821E-5
2-29456426-C-CT c.2487+4_2487+5insA splice_region ALK 3 83142 3.60828E-5 41571 0 3.18471E-5
2-29456439-C-T p.Val827Ile missense ALK 1 83258 1.20109E-5 41629 0 1.64739E-5
2-29456440-G-A p.Tyr826Tyr synonymous ALK 21 83282 2.52155E-4 41641 0 1.31256E-4
2-29456449-T-C p.Gly823Gly synonymous ALK 1 83332 1.20002E-5 41666 0 7.95406E-6
2-29456461-T-C p.Gly819Gly synonymous ALK 1 83366 1.19953E-5 41683 0 8.23655E-6
2-29456466-C-T p.Gly818Arg missense ALK 1 83372 1.19944E-5 41686 0 3.1841E-5
2-29456467-G-A p.Gly817Gly synonymous ALK 48 83368 5.7576E-4 41684 0 4.14197E-4
2-29456483-T-C p.His812Arg missense ALK 4 83398 4.79628E-5 41699 0 3.97627E-6
2-29456484-G-C p.His812Asp missense ALK 1 83394 1.19913E-5 41697 0 3.97633E-6
2-29456487-C-T p.Val811Met missense ALK 3 83398 3.59721E-5 41699 0 3.1839E-5
2-29456488-G-A p.Ser810Ser synonymous ALK 29 83400 3.47722E-4 41700 0 0.00100705
2-29456501-C-T p.Arg806His missense ALK 4 83400 4.79616E-5 41700 0 0.00125
2-29456502-G-A p.Arg806Cys missense ALK 5 83396 5.99549E-5 41698 0 4.37397E-5
2-29456505-TTTC-T p.Glu804del conservative_inframe_deletion ALK 1 83400 1.19904E-5 41700 0 NA
2-29456525-T-G p.Asn798Thr missense ALK 1 83376 1.19939E-5 41688 0 NA
2-29456527-C-T p.Glu797Glu synonymous ALK 8 83382 9.5944E-5 41691 0 NA
2-29456534-A-G p.Ile795Thr missense ALK 3 83376 3.59816E-5 41688 0 1.59057E-5
2-29456562-T-C p.Thr786Ala missense+splice_region ALK 1 83350 1.19976E-5 41675 0 8.2371E-6
2-29462539-C-T c.2355+7G>A splice_region ALK 1 82690 1.20934E-5 41345 0 7.98072E-6
2-29462547-C-T p.Ser785Asn missense+splice_region ALK 1 82808 1.20761E-5 41404 0 3.98661E-6
2-29462550-G-C p.Pro784Arg missense ALK 1 82788 1.2079E-5 41394 0 NA
2-29462557-C-T p.Ala782Thr missense ALK 1 82832 1.20726E-5 41416 0 8.25491E-6
2-29462558-G-A p.Asp781Asp synonymous ALK 13 82884 1.56846E-4 41442 0 3.50475E-4
2-29462564-T-G p.Gly779Gly synonymous ALK 9 82986 1.08452E-4 41493 0 3.18532E-5
2-29462573-C-T p.Gly776Gly synonymous ALK 2 83020 2.40906E-5 41510 0 3.18492E-5
2-29462594-G-A p.Asp769Asp synonymous ALK 2 83138 2.40564E-5 41569 0 1.56678E-4
2-29462595-T-C p.Asp769Gly missense ALK 1 83146 1.2027E-5 41573 0 NA
2-29462599-C-T p.Asp768Asn missense ALK 2 83140 2.40558E-5 41570 0 8.24565E-6
2-29462620-C-T p.Gly761Ser missense ALK 1 83074 1.20375E-5 41537 0 NA
2-29462626-C-T p.Val759Met missense ALK 4 83048 4.81649E-5 41524 0 4.77616E-5
2-29462631-ACGCCGTGGGACCG-A p.Arg753fs frameshift ALK 1 83014 1.20462E-5 41507 0 NA
2-29462633-G-A p.Gly756Gly synonymous ALK 117 82998 0.00140967 41499 0 0.00248566
2-29462636-G-T p.His755Gln missense ALK 3 83006 3.6142E-5 41503 0 NA
2-29462636-G-A p.His755His synonymous ALK 1 83006 1.20473E-5 41503 0 3.18817E-5
2-29462638-G-T p.His755Asn missense ALK 2 83036 2.40859E-5 41518 0 6.25E-4
2-29462643-C-T p.Arg753Gln missense ALK 3 82974 3.61559E-5 41487 0 7.96337E-6
2-29462658-T-G p.Lys748Thr missense ALK 2 82846 2.41412E-5 41423 0 NA
2-29462663-G-A p.Gly746Gly synonymous ALK 15 82862 1.81024E-4 41431 0 2.54923E-4
2-29462665-C-T p.Gly746Ser missense ALK 1 82918 1.20601E-5 41459 0 NA
2-29462671-C-T p.Gly744Arg missense ALK 1 82988 1.20499E-5 41494 0 3.98454E-6
2-29462672-G-A p.Gly743Gly synonymous ALK 7 82960 8.4378E-5 41480 0 1.2751E-4
2-29462683-C-T p.Gly740Arg missense ALK 1 82880 1.20656E-5 41440 0 1.5953E-5
2-29462684-G-A p.Tyr739Tyr synonymous ALK 3 82874 3.61995E-5 41437 0 6.37146E-5
2-29462690-C-T p.Ser737Ser synonymous ALK 3 82748 3.62547E-5 41374 0 3.99253E-6
2-29462691-G-A p.Ser737Leu missense ALK 1 82750 1.20846E-5 41375 0 1.25038E-4
2-29462701-A-G c.2205-5T>C splice_region ALK 1 82528 1.21171E-5 41264 0 NA
2-29473963-A-G c.2204+8T>C splice_region ALK 1 82084 1.21826E-5 41042 0 9.75835E-5
2-29473967-G-C c.2204+4C>G splice_region ALK 2 82130 2.43516E-5 41065 0 4.02039E-6
2-29473967-G-A c.2204+4C>T splice_region ALK 1 82130 1.21758E-5 41065 0 7.90917E-5
2-29473982-G-A p.Thr731Thr synonymous ALK 3 82540 3.6346E-5 41270 0 1.27429E-4
2-29474000-G-A p.Ile725Ile synonymous ALK 218 82814 0.00263241 41407 1 0.00583434
2-29474018-G-A p.Pro719Pro synonymous ALK 1 82918 1.20601E-5 41459 0 3.98597E-6
2-29474020-G-T p.Pro719Thr missense ALK 1 82928 1.20587E-5 41464 0 NA
2-29474026-C-T p.Glu717Lys missense ALK 30 82912 3.61829E-4 41456 0 0.00302115
2-29474027-G-A p.Ser716Ser synonymous ALK 34 82896 4.10152E-4 41448 0 9.56816E-4
2-29474028-C-A p.Ser716Ile missense ALK 2 82902 2.41249E-5 41451 0 NA
2-29474031-C-T p.Gly715Glu missense ALK 1 82882 1.20653E-5 41441 0 3.18613E-5
2-29474042-G-A p.Ser711Ser synonymous ALK 206 82842 0.00248666 41421 2 0.00631257
2-29474044-T-G p.Ser711Arg missense ALK 1 82836 1.2072E-5 41418 0 1.19541E-5
2-29474048-G-T p.Asn709Lys missense ALK 15 82844 1.81063E-4 41422 0 0.0025
2-29474064-G-A p.Ala704Val missense ALK 1 82798 1.20776E-5 41399 0 NA
2-29474065-C-T p.Ala704Thr missense ALK 3 82786 3.6238E-5 41393 0 1.99397E-5
2-29474066-G-A p.Asn703Asn synonymous ALK 8 82796 9.6623E-5 41398 0 0.00100705
2-29474075-C-T p.Gln700Gln synonymous ALK 2 82768 2.41639E-5 41384 0 5.12111E-5
2-29474081-C-T p.Gln698Gln synonymous ALK 3 82754 3.6252E-5 41377 0 3.99081E-6
2-29474084-G-T p.Thr697Thr synonymous ALK 1 82724 1.20884E-5 41362 0 NA
2-29474095-G-A p.His694Tyr missense ALK 1 82690 1.20934E-5 41345 0 6.37064E-5
2-29474102-G-C p.Ser691Arg missense ALK 3 82594 3.63222E-5 41297 0 4.00943E-6
2-29474102-G-T p.Ser691Arg missense ALK 1 82594 1.21074E-5 41297 0 4.00943E-6
2-29474129-A-G p.His682His synonymous ALK 2 82604 2.42119E-5 41302 0 NA
2-29497960-C-T c.2041+5G>A splice_region ALK 9 83326 1.0801E-4 41663 0 NA
2-29497967-G-A p.Thr680Ile missense+splice_region ALK 1620 83310 0.0194454 41655 33 0.0164044
2-29497970-G-C p.Pro679Arg missense ALK 1 83334 1.19999E-5 41667 0 NA
2-29497983-G-A p.Pro675Ser missense ALK 1 83356 1.19967E-5 41678 0 NA
2-29497985-G-T p.Thr674Asn missense ALK 2 83352 2.39946E-5 41676 0 3.97633E-6
2-29497995-G-A p.Pro671Ser missense ALK 25 83374 2.99854E-4 41687 0 0.0020141
2-29498007-C-T p.Gly667Arg missense ALK 11 83372 1.31939E-4 41686 2 5.03525E-4
2-29498008-G-A p.Pro666Pro synonymous ALK 2 83374 2.39883E-5 41687 0 6.37389E-5
2-29498020-C-T p.Lys662Lys synonymous ALK 1 83370 1.19947E-5 41685 0 1.64739E-5
2-29498021-T-G p.Lys662Thr missense ALK 1 83374 1.19941E-5 41687 0 NA
2-29498023-G-T p.Asn661Lys missense ALK 2 83376 2.39877E-5 41688 0 3.18552E-5
2-29498029-G-C p.Asn659Lys missense ALK 3 83374 3.59824E-5 41687 0 1.59066E-5
2-29498030-T-C p.Asn659Ser missense ALK 1 83374 1.19941E-5 41687 0 3.18431E-5
2-29498043-G-A p.Leu655Leu synonymous ALK 1 83376 1.19939E-5 41688 0 1.64739E-5
2-29498063-G-A p.Thr648Ile missense ALK 73 83364 8.75678E-4 41682 2 0.00238884
2-29498072-A-T p.Leu645Gln missense ALK 1 83356 1.19967E-5 41678 0 NA
2-29498078-T-G p.Lys643Thr missense ALK 1 83356 1.19967E-5 41678 0 NA
2-29498088-C-T p.Gly640Arg missense ALK 10 83340 1.1999E-4 41670 0 1.59307E-4
2-29498089-G-A p.Ser639Ser synonymous ALK 6 83330 7.20029E-5 41665 0 3.97735E-5
2-29498098-A-G c.1913-5T>C splice_region ALK 1 83332 1.20002E-5 41666 0 NA
2-29498313-C-T p.Val623Met missense ALK 1 82580 1.21095E-5 41290 0 2.48209E-5
2-29498314-G-A p.Ile622Ile synonymous ALK 2 82586 2.42172E-5 41293 0 6.37146E-5
2-29498326-T-G p.Gly618Gly synonymous ALK 2 82538 2.42313E-5 41269 0 3.18776E-5
2-29498337-A-T p.Trp615Arg missense ALK 1 82454 1.2128E-5 41227 0 NA
2-29498343-C-T p.Ala613Thr missense ALK 1 82344 1.21442E-5 41172 0 1.65769E-5
2-29498344-G-A p.Val612Val synonymous ALK 1 82304 1.21501E-5 41152 0 8.28858E-6
2-29498346-C-T p.Val612Ile missense ALK 1 82262 1.21563E-5 41131 0 5.04541E-4
2-29498348-A-G p.Met611Thr missense ALK 1 82212 1.21637E-5 41106 0 NA
2-29519746-G-A c.1817+8C>T splice_region ALK 2 83120 2.40616E-5 41560 0 9.55231E-5
2-29519767-C-T p.Asp602Asn missense ALK 3 83184 3.60646E-5 41592 0 1.19436E-5
2-29519777-C-A p.Leu598Phe missense ALK 1 83178 1.20224E-5 41589 0 NA
2-29519782-C-A p.Val597Leu missense ALK 1 83220 1.20163E-5 41610 0 3.18552E-5
2-29519784-A-G p.Met596Thr missense ALK 7 83200 8.41346E-5 41600 0 0.00151057
2-29519786-C-T p.Trp595* stop_gained ALK 1 83194 1.20201E-5 41597 0 NA
2-29519790-T-C p.Gln594Arg missense ALK 1 83182 1.20218E-5 41591 0 NA
2-29519803-A-T p.Leu590Met missense ALK 1 83144 1.20273E-5 41572 0 8.24647E-6
2-29519805-C-G p.Gly589Ala missense ALK 2 83132 2.40581E-5 41566 0 NA
2-29519815-C-T p.Ala586Thr missense ALK 2 83072 2.40755E-5 41536 0 3.18532E-5
2-29519816-G-A p.Ala585Ala synonymous ALK 13 83072 1.56491E-4 41536 0 4.13934E-4
2-29519818-C-T p.Ala585Thr missense ALK 1 83058 1.20398E-5 41529 0 6.37024E-5
2-29519819-G-A p.Val584Val synonymous ALK 5 83066 6.01931E-5 41533 0 6.37024E-5
2-29519842-G-T p.Gln577Lys missense ALK 5 83006 6.02366E-5 41503 0 NA
2-29519846-C-G p.Lys575Asn missense ALK 4 82982 4.82032E-5 41491 0 1.59252E-5
2-29519849-C-G p.Gly574Gly synonymous ALK 1 82968 1.20528E-5 41484 0 NA
2-29519851-C-T p.Gly574Arg missense ALK 6 82954 7.23292E-5 41477 0 5.03525E-4
2-29519852-G-A p.Thr573Thr synonymous ALK 240 82922 0.00289429 41461 2 0.00528763
2-29519858-G-C p.Asn571Lys missense ALK 1 82906 1.20619E-5 41453 0 NA
2-29519861-C-T p.Glu570Glu synonymous ALK 8 82904 9.64972E-5 41452 1 3.29544E-5
2-29519875-A-G p.Leu566Leu synonymous ALK 1 82794 1.20782E-5 41397 0 NA
2-29519881-C-T p.Val564Met missense ALK 1 82732 1.20872E-5 41366 0 3.18532E-5
2-29519882-G-A p.Asn563Asn synonymous ALK 28 82698 3.38581E-4 41349 1 0.0025
2-29519891-C-T p.Leu560Leu synonymous ALK 2 82682 2.41891E-5 41341 0 NA
2-29519901-C-T p.Arg557His missense ALK 1 82632 1.21018E-5 41316 0 6.37024E-5
2-29519902-G-C p.Arg557Gly missense ALK 1 82632 1.21018E-5 41316 0 8.24158E-6
2-29519915-C-T p.Met552Ile missense ALK 1 82588 1.21083E-5 41294 0 6.25E-4
2-29519920-G-A p.Arg551* stop_gained ALK 1 82524 1.21177E-5 41262 0 1.19529E-5
2-29519921-G-C p.Leu550Leu splice_region+synonymous ALK 1 82512 1.21194E-5 41256 0 1.1542E-4
2-29519923-G-A p.Leu550Phe missense+splice_region ALK 1 82490 1.21227E-5 41245 0 2.22958E-4
2-29519927-T-C c.1648-4A>G splice_region ALK 1 82486 1.21233E-5 41243 0 NA
2-29541176-T-A p.Pro547Pro synonymous ALK 1 83298 1.20051E-5 41649 0 NA
2-29541182-G-A p.Ser545Ser synonymous ALK 1 83310 1.20034E-5 41655 0 NA
2-29541182-G-C p.Ser545Arg missense ALK 1 83310 1.20034E-5 41655 0 NA
2-29541191-C-G p.Pro542Pro synonymous ALK 25 83312 3.00077E-4 41656 0 1.6703E-4
2-29541191-C-T p.Pro542Pro synonymous ALK 4 83312 4.80123E-5 41656 0 3.29712E-5
2-29541194-T-C p.Ala541Ala synonymous ALK 1 83318 1.20022E-5 41659 0 7.95323E-6
2-29541203-C-T p.Thr538Thr synonymous ALK 2 83332 2.40004E-5 41666 0 1.64794E-5
2-29541224-A-G p.Ser531Ser synonymous ALK 1 83330 1.20005E-5 41665 0 8.23913E-6
2-29541233-A-G p.Ala528Ala synonymous ALK 4 83318 4.80088E-5 41659 1 2.54793E-4
2-29541235-C-T p.Ala528Thr missense ALK 5 83312 6.00154E-5 41656 0 3.97684E-5
2-29541236-G-C p.Pro527Pro synonymous ALK 3 83312 3.60092E-5 41656 0 6.37024E-5
2-29541236-G-A p.Pro527Pro synonymous ALK 3 83312 3.60092E-5 41656 0 1.98839E-5
2-29541239-G-A p.Val526Val synonymous ALK 2 83308 2.40073E-5 41654 0 NA
2-29541239-G-T p.Val526Val synonymous ALK 1 83308 1.20036E-5 41654 0 NA
2-29541241-C-T p.Val526Ile missense ALK 4 83308 4.80146E-5 41654 0 8.24131E-6
2-29541252-C-T p.Ser522Asn missense ALK 1 83280 1.20077E-5 41640 0 NA
2-29541253-T-A p.Ser522Cys missense ALK 3 83276 3.60248E-5 41638 0 NA
2-29541262-G-A p.Leu519Leu synonymous ALK 1 83262 1.20103E-5 41631 0 NA
2-29541266-A-G p.His517His synonymous ALK 8 83212 9.614E-5 41606 0 6.3743E-5
2-29541267-T-C p.His517Arg missense ALK 1 83218 1.20166E-5 41609 0 3.57958E-5
2-29541270-T-C p.Asp516Gly missense+splice_region ALK 3 83184 3.60646E-5 41592 0 6.38162E-5
2-29541276-A-G c.1547-6T>C splice_region ALK 1 83116 1.20314E-5 41558 0 NA
2-29543634-C-T p.Arg510Gln missense ALK 6 83170 7.21414E-5 41585 0 2.78396E-5
2-29543635-G-A p.Arg510Trp missense ALK 3 83194 3.60603E-5 41597 0 5.05561E-4
2-29543647-G-C p.Leu506Val missense ALK 1 83248 1.20123E-5 41624 0 1.64734E-5
2-29543649-G-A p.Thr505Ile missense ALK 7 83236 8.40982E-5 41618 0 2.38622E-5
2-29543653-T-C p.Arg504Gly missense ALK 1 83248 1.20123E-5 41624 0 NA
2-29543663-T-C p.Gln500Gln synonymous ALK 70716 82558 0.856561 41279 30876 0.894375
2-29543663-T-G p.Gln500His missense ALK 1 83280 1.20077E-5 41640 0 8.2371E-6
2-29543668-G-T p.Pro499Thr missense ALK 1 83280 1.20077E-5 41640 0 NA
2-29543699-G-A p.Gly488Gly synonymous ALK 635 83246 0.00762799 41623 3 0.00597828
2-29543711-A-T p.Asp484Glu missense ALK 1 83208 1.20181E-5 41604 0 NA
2-29543716-C-G p.Glu483Gln missense ALK 1 83176 1.20227E-5 41588 0 1.59115E-5
2-29543736-A-G p.Val476Ala missense ALK 2473 82794 0.0298693 41397 46 0.03625
2-29543737-C-CAT p.Val476fs frameshift ALK 1 82920 1.20598E-5 41460 0 NA
2-29543745-T-A p.Lys473Ile missense ALK 3 82720 3.62669E-5 41360 0 8.24633E-6
2-29543747-C-T p.Arg472Arg splice_region+synonymous ALK 1 82634 1.21016E-5 41317 0 3.98206E-6
2-29543751-A-G c.1415-3T>C splice_region ALK 3 82522 3.63539E-5 41261 0 2.47451E-5
2-29543752-T-C c.1415-4A>G splice_region ALK 1 82486 1.21233E-5 41243 0 8.24851E-6
2-29543753-G-A c.1415-5C>T splice_region ALK 2 82412 2.42683E-5 41206 0 3.9841E-6
2-29543754-G-A c.1415-6C>T splice_region ALK 2 82374 2.42795E-5 41187 0 1.59246E-4
2-29551216-G-A p.Arg472Trp missense+splice_region ALK 1 81430 1.22805E-5 40715 0 1.19589E-5
2-29551217-G-A p.Cys471Cys splice_region+synonymous ALK 2 81542 2.45272E-5 40771 0 5.58125E-5
2-29551240-C-T p.Gly464Arg missense ALK 2 82232 2.43214E-5 41116 0 6.37064E-5
2-29551242-T-C p.Gln463Arg missense ALK 1 82270 1.21551E-5 41135 0 NA
2-29551254-T-C p.Gln459Arg missense ALK 2 82410 2.42689E-5 41205 0 4.12276E-5
2-29551274-C-T p.Gly452Gly synonymous ALK 2 82468 2.42518E-5 41234 0 8.24498E-6
2-29551279-G-C p.Leu451Val missense ALK 1 82506 1.21203E-5 41253 0 8.24443E-6
2-29551287-A-T p.Val448Asp missense ALK 1 82544 1.21148E-5 41272 0 0.00100705
2-29551313-G-A p.Ser439Ser synonymous ALK 1 82466 1.21262E-5 41233 0 1.64889E-5
2-29551319-C-T p.Leu437Leu synonymous ALK 2 82416 2.42671E-5 41208 0 8.24498E-6
2-29551324-C-G p.Ala436Pro missense ALK 4 82334 4.85826E-5 41167 0 3.98273E-6
2-29551324-C-T p.Ala436Thr missense ALK 1 82332 1.21459E-5 41166 0 3.18552E-5
2-29551337-T-C p.Pro431Pro synonymous ALK 1 82136 1.21749E-5 41068 0 NA
2-29551347-C-G p.Gly428Ala missense+splice_region ALK 2 81920 2.44141E-5 40960 0 NA
2-29551352-A-G c.1283-5T>C splice_region ALK 4 81730 4.89416E-5 40865 0 1.27397E-4
2-29606603-C-G p.Ser426Thr missense ALK 12 83114 1.4438E-4 41557 0 5.09554E-4
2-29606607-A-C p.Cys425Gly missense ALK 2 83126 2.40599E-5 41563 0 NA
2-29606611-C-A p.Lys423Asn missense ALK 1 83108 1.20325E-5 41554 0 NA
2-29606620-A-G p.Phe420Phe synonymous ALK 2 83094 2.40691E-5 41547 0 8.24552E-6
2-29606645-C-T p.Arg412His missense ALK 4 83126 4.81197E-5 41563 0 6.3678E-5
2-29606646-G-A p.Arg412Cys missense ALK 71 83128 8.54105E-4 41564 0 5.13478E-4
2-29606652-C-T p.Gly410Arg missense ALK 1 83116 1.20314E-5 41558 0 8.24212E-6
2-29606662-G-A p.Tyr406Tyr synonymous ALK 1 83146 1.2027E-5 41573 0 3.1839E-5
2-29606665-T-A p.Glu405Asp missense ALK 14 83140 1.68391E-4 41570 0 4.77956E-4
2-29606678-C-T p.Arg401Gln missense ALK 3 83186 3.60638E-5 41593 0 8.23968E-6
2-29606687-T-C p.Asn398Ser missense ALK 1 83212 1.20175E-5 41606 0 1.59162E-5
2-29606690-T-A p.Asp397Val missense ALK 1 83192 1.20204E-5 41596 0 3.18451E-5
2-29606691-C-T p.Asp397Asn missense ALK 22 83210 2.64391E-4 41605 0 9.0632E-5
2-29606692-T-A p.Pro396Pro synonymous ALK 2 83206 2.40367E-5 41603 0 NA
2-29606696-C-T p.Arg395His missense ALK 6 83196 7.21189E-5 41598 0 6.36902E-5
2-29606696-C-A p.Arg395Leu missense ALK 1 83196 1.20198E-5 41598 0 NA
2-29606697-G-T p.Arg395Ser missense ALK 2 83194 2.40402E-5 41597 0 3.18492E-5
2-29606697-G-A p.Arg395Cys missense ALK 2 83194 2.40402E-5 41597 0 0.00100806
2-29606701-G-A p.Ile393Ile synonymous ALK 2 83194 2.40402E-5 41597 0 3.18352E-5
2-29606701-G-T p.Ile393Ile synonymous ALK 1 83194 1.20201E-5 41597 0 3.18451E-5
2-29606715-G-A p.Leu389Phe missense ALK 1 83146 1.2027E-5 41573 0 NA
2-29754777-T-A c.1154+4A>T splice_region ALK 5 83164 6.01222E-5 41582 0 1.39487E-4
2-29754781-C-A p.Gly385Val missense+splice_region ALK 1 83168 1.20239E-5 41584 0 NA
2-29754787-T-A p.Lys383Met missense ALK 7 83172 8.41629E-5 41586 0 1.59195E-4
2-29754800-G-A p.Pro379Ser missense ALK 1 83128 1.20296E-5 41564 0 NA
2-29754807-G-A p.Leu376Leu synonymous ALK 30 83108 3.60976E-4 41554 0 0.001875
2-29754808-A-G p.Leu376Pro missense ALK 1 83106 1.20328E-5 41553 0 7.95995E-6
2-29754816-T-G p.Arg373Ser missense ALK 2 83062 2.40784E-5 41531 0 NA
2-29754817-C-A p.Arg373Ile missense ALK 3 83066 3.61159E-5 41533 0 3.98032E-6
2-29754819-T-G p.Ala372Ala synonymous ALK 2 83062 2.40784E-5 41531 0 NA
2-29754821-C-T p.Ala372Thr missense ALK 2 83060 2.4079E-5 41530 0 8.23927E-6
2-29754823-G-C p.Ala371Gly missense ALK 1 83054 1.20404E-5 41527 0 NA
2-29754824-C-T p.Ala371Thr missense ALK 16 83054 1.92646E-4 41527 0 2.8837E-4
2-29754825-C-T p.Glu370Glu synonymous ALK 50 83062 6.0196E-4 41531 0 0.00184772
2-29754827-C-T p.Glu370Lys missense ALK 5 83054 6.02018E-5 41527 0 1.27389E-4
2-29754828-G-A p.Asn369Asn synonymous ALK 2 83044 2.40836E-5 41522 0 2.38833E-5
2-29754835-G-C p.Pro367Arg missense ALK 4 83012 4.81858E-5 41506 0 1.73025E-4
2-29754836-G-A p.Pro367Ser missense ALK 1 83006 1.20473E-5 41503 0 3.98108E-6
2-29754861-A-G p.Ser358Ser synonymous ALK 1 82960 1.2054E-5 41480 0 NA
2-29754870-C-T p.Leu355Leu synonymous ALK 1 82924 1.20592E-5 41462 0 NA
2-29754885-C-T p.Ser350Ser synonymous ALK 1 82898 1.2063E-5 41449 0 3.18634E-5
2-29754886-G-A p.Ser350Leu missense ALK 1 82902 1.20624E-5 41451 0 1.64788E-5
2-29754890-C-T p.Val349Ile missense ALK 3 82908 3.61847E-5 41454 0 9.55718E-5
2-29754891-G-A p.Ala348Ala synonymous ALK 4 82914 4.82428E-5 41457 0 4.3795E-5
2-29754891-G-C p.Ala348Ala synonymous ALK 2 82914 2.41214E-5 41457 0 NA
2-29754892-G-T p.Ala348Asp missense ALK 2 82914 2.41214E-5 41457 0 8.2394E-6
2-29754893-C-T p.Ala348Thr missense ALK 1 82914 1.20607E-5 41457 0 3.98143E-5
2-29754908-C-T p.Glu343Lys missense ALK 1 82958 1.20543E-5 41479 0 NA
2-29754927-C-T p.Pro336Pro synonymous ALK 2 83004 2.40952E-5 41502 0 1.99049E-5
2-29754927-C-A p.Pro336Pro synonymous ALK 3 83004 3.61428E-5 41502 0 NA
2-29754946-T-C p.Lys330Arg missense ALK 2 83080 2.40732E-5 41540 0 3.18959E-5
2-29754952-T-C p.Asp328Gly missense ALK 2 83092 2.40697E-5 41546 0 3.20164E-5
2-29754975-A-G p.Phe320Phe synonymous ALK 1 83088 1.20354E-5 41544 0 1.66533E-5
2-29754981-G-A p.Gly318Gly splice_region+synonymous ALK 1 83058 1.20398E-5 41529 0 NA
2-29917727-T-C p.Glu314Gly missense ALK 1 82570 1.21109E-5 41285 0 5.77243E-5
2-29917735-A-C p.Arg311Arg synonymous ALK 2 82496 2.42436E-5 41248 0 NA
2-29917736-C-T p.Arg311His missense ALK 59 82490 7.15238E-4 41245 0 0.001875
2-29917737-G-A p.Arg311Cys missense ALK 5 82464 6.06325E-5 41232 0 5.04032E-4
2-29917738-C-A p.Glu310Asp missense ALK 5 82468 6.06296E-5 41234 0 4.78332E-5
2-29917738-C-T p.Glu310Glu synonymous ALK 1 82468 1.21259E-5 41234 0 NA
2-29917742-G-GC p.Ala309fs frameshift ALK 1 82434 1.21309E-5 41217 0 NA
2-29917743-C-T p.Ala309Thr missense ALK 3 82434 3.63928E-5 41217 0 6.37064E-5
2-29917744-C-T p.Gly308Gly synonymous ALK 2 82428 2.42636E-5 41214 0 3.18512E-5
2-29917745-C-CCAG p.Pro307_Gly308insAla conservative_inframe_insertion ALK 2 82432 2.42624E-5 41216 0 3.29886E-5
2-29917749-G-A p.Pro307Ser missense ALK 1 82390 1.21374E-5 41195 0 3.29886E-5
2-29917757-A-T p.Leu304Gln missense ALK 1 82350 1.21433E-5 41175 0 NA
2-29917766-A-T p.Met301Lys missense ALK 1 82296 1.21513E-5 41148 0 1.19623E-5
2-29917776-C-T p.Ala298Thr missense ALK 3 82210 3.64919E-5 41105 0 3.18471E-5
2-29917776-C-A p.Ala298Ser missense ALK 1 82210 1.2164E-5 41105 0 NA
2-29917782-C-T p.Glu296Lys missense ALK 2 82204 2.43297E-5 41102 0 1.15668E-4
2-29917783-G-A p.Ser295Ser synonymous ALK 3 82194 3.6499E-5 41097 0 1.19643E-5
2-29917793-C-A p.Arg292Leu missense ALK 1 82158 1.21717E-5 41079 0 3.98956E-6
2-29917793-C-T p.Arg292His missense ALK 6 82158 7.303E-5 41079 0 1.27413E-4
2-29917794-G-A p.Arg292Cys missense ALK 4 82162 4.86843E-5 41081 0 4.95082E-5
2-29917796-C-T p.Arg291His missense ALK 2 82166 2.4341E-5 41083 0 4.12555E-5
2-29917797-G-A p.Arg291Cys missense ALK 2 82176 2.4338E-5 41088 0 3.3006E-5
2-29917819-G-C p.Leu283Leu synonymous ALK 2 82328 2.42931E-5 41164 0 7.97435E-6
2-29917822-G-A p.Asp282Asp synonymous ALK 3 82352 3.6429E-5 41176 0 6.25E-4
2-29917825-A-T p.His281Gln missense ALK 1 82392 1.21371E-5 41196 0 8.2511E-6
2-29917829-A-G p.Leu280Pro missense ALK 1 82412 1.21342E-5 41206 0 6.37064E-5
2-29917835-G-A p.Pro278Leu missense ALK 2 82434 2.42618E-5 41217 0 6.6011E-5
2-29917838-G-A p.Ser277Phe missense ALK 1 82440 1.213E-5 41220 0 3.18552E-5
2-29917849-C-T p.Glu273Glu synonymous ALK 1 82498 1.21215E-5 41249 0 NA
2-29917860-A-G p.Phe270Leu missense ALK 10 82540 1.21153E-4 41270 0 6.25E-4
2-29917861-G-A p.Asp269Asp synonymous ALK 1 82550 1.21139E-5 41275 0 NA
2-29917887-T-C c.788-7A>G splice_region ALK 2 82584 2.42178E-5 41292 0 8.26474E-6
2-29940449-C-T p.Arg261Gln missense ALK 2 83112 2.40639E-5 41556 0 4.7762E-5
2-29940449-C-A p.Arg261Leu missense ALK 2 83112 2.40639E-5 41556 0 1.27429E-4
2-29940455-C-T p.Arg259His missense ALK 37 83116 4.45161E-4 41558 0 9.55779E-4
2-29940455-C-G p.Arg259Pro missense ALK 1 83118 1.20311E-5 41559 0 5.03145E-4
2-29940456-G-A p.Arg259Cys missense ALK 2 83126 2.40599E-5 41563 0 5.03525E-4
2-29940460-A-G p.Ser257Ser synonymous ALK 1 83120 1.20308E-5 41560 0 1.64772E-5
2-29940463-C-T p.Leu256Leu synonymous ALK 1 83132 1.20291E-5 41566 0 3.2956E-5
2-29940467-A-G p.Phe255Ser missense ALK 1 83152 1.20262E-5 41576 0 NA
2-29940471-G-A p.Pro254Ser missense ALK 3 83176 3.60681E-5 41588 0 3.18593E-5
2-29940507-T-C p.Thr242Ala missense ALK 1 83250 1.2012E-5 41625 0 NA
2-29940516-CAGG-C p.Pro238del conservative_inframe_deletion ALK 5 83254 6.00572E-5 41627 0 3.97845E-6
2-29940529-A-T p.Pro234Pro synonymous ALK 61393 83104 0.738749 41552 23872 0.751259
2-29940529-A-C p.Pro234Pro synonymous ALK 6 83268 7.20565E-5 41634 0 1.19326E-4
2-29940536-T-G p.Asn232Thr missense ALK 1 83278 1.2008E-5 41639 0 8.23805E-6
2-29940539-G-C p.Thr231Arg missense ALK 3 83286 3.60205E-5 41643 0 1.59175E-4
2-29940552-A-G p.Leu227Leu synonymous ALK 2 83276 2.40165E-5 41638 0 2.22859E-4
2-30142863-C-G p.Gly221Gly synonymous ALK 1 83118 1.20311E-5 41559 0 8.40294E-6
2-30142864-C-T p.Gly221Glu missense ALK 1 83126 1.20299E-5 41563 0 NA
2-30142865-C-G p.Gly221Arg missense ALK 10 83130 1.20294E-4 41565 0 1.76385E-4
2-30142865-C-T p.Gly221Arg missense ALK 1 83132 1.20291E-5 41566 0 NA
2-30142881-A-G p.Leu215Leu synonymous ALK 289 83108 0.0034774 41554 3 0.00780553
2-30142885-C-T p.Arg214His missense ALK 1 83050 1.20409E-5 41525 0 3.18451E-5
2-30142886-G-A p.Arg214Cys missense ALK 4 83066 4.81545E-5 41533 0 1.6735E-5
2-30142898-C-T p.Ala210Thr missense ALK 6 82892 7.23833E-5 41446 0 2.50472E-5
2-30142899-G-A p.Arg209Arg synonymous ALK 1 82932 1.20581E-5 41466 0 NA
2-30142903-A-G p.Ile208Thr missense ALK 3 82962 3.61611E-5 41481 0 3.99291E-6
2-30142910-C-T p.Ala206Thr missense ALK 7 82914 8.44248E-5 41457 0 0.00100705
2-30142911-G-C p.Ser205Ser synonymous ALK 9 82918 1.08541E-4 41459 0 6.7835E-5
2-30142911-G-A p.Ser205Ser synonymous ALK 1 82918 1.20601E-5 41459 0 3.9903E-6
2-30142929-G-A p.Gly199Gly synonymous ALK 32 82952 3.85765E-4 41476 0 0.00302115
2-30142930-C-A p.Gly199Val missense ALK 4 82958 4.82172E-5 41479 0 3.18431E-5
2-30142934-C-T p.Val198Met missense ALK 69 82950 8.31826E-4 41475 0 0.00187874
2-30142952-C-T p.Glu192Lys missense ALK 5 83022 6.0225E-5 41511 0 2.49917E-5
2-30142955-G-C p.Pro191Ala missense ALK 1 83012 1.20465E-5 41506 0 NA
2-30143004-G-T p.Phe174Leu missense ALK 3 82816 3.62249E-5 41408 0 6.25E-4
2-30143013-G-A p.Ser171Ser synonymous ALK 2 82690 2.41867E-5 41345 0 4.39923E-5
2-30143020-T-C p.Asn169Ser missense ALK 4 82684 4.8377E-5 41342 0 0.00125
2-30143022-G-A p.Phe168Phe synonymous ALK 1 82642 1.21004E-5 41321 0 3.1839E-5
2-30143023-A-G p.Phe168Ser missense ALK 1 82602 1.21062E-5 41301 0 3.18492E-5
2-30143028-G-A p.Leu166Leu synonymous ALK 2 82514 2.42383E-5 41257 0 1.27421E-4
2-30143034-C-T p.Gly164Gly synonymous ALK 1 82488 1.2123E-5 41244 0 NA
2-30143036-C-T p.Gly164Arg missense ALK 1 82476 1.21247E-5 41238 0 3.18532E-5
2-30143039-C-A p.Val163Leu missense ALK 14 82392 1.69919E-4 41196 0 4.14065E-4
2-30143044-G-T p.Ala161Glu missense ALK 1 82248 1.21584E-5 41124 0 NA
2-30143049-C-T p.Gly159Gly synonymous ALK 1 82548 1.21142E-5 41274 0 8.86713E-6
2-30143054-G-T p.Pro158Thr missense ALK 1 82546 1.21145E-5 41273 0 3.64243E-5
2-30143054-G-A p.Pro158Ser missense ALK 3 82548 3.63425E-5 41274 0 1.78345E-5
2-30143056-G-A p.Pro157Leu missense ALK 7 82516 8.4832E-5 41258 0 9.55901E-5
2-30143057-G-A p.Pro157Ser missense ALK 30 82298 3.64529E-4 41149 0 0.00143358
2-30143058-C-G p.Gly156Gly synonymous ALK 1 82524 1.21177E-5 41262 0 4.05894E-6
2-30143063-C-G p.Val155Leu missense ALK 2 82450 2.42571E-5 41225 0 9.11261E-6
2-30143078-T-C p.Ile150Val missense ALK 2 82284 2.43061E-5 41142 0 4.08597E-6
2-30143098-A-T p.Leu143Gln missense ALK 3 81704 3.67179E-5 40852 0 3.18634E-5
2-30143098-A-C p.Leu143Arg missense ALK 2 81704 2.44786E-5 40852 0 2.27702E-5
2-30143099-G-A p.Leu143Leu synonymous ALK 1 81606 1.2254E-5 40803 0 NA
2-30143112-G-C p.Ala138Ala synonymous ALK 1 81104 1.23298E-5 40552 0 3.18634E-5
2-30143117-G-A p.Arg137Cys missense ALK 1 80696 1.23922E-5 40348 0 1.44827E-5
2-30143118-C-G p.Arg136Arg synonymous ALK 4 80648 4.95983E-5 40324 0 NA
2-30143120-G-A p.Arg136Trp missense ALK 1 80594 1.24079E-5 40297 0 4.42913E-6
2-30143121-G-C p.Leu135Leu synonymous ALK 2 80542 2.48318E-5 40271 0 NA