Annotation Summary for Cell Line: CCK-81  

Cell line primary name: CCK-81
Cell line aliases:
Gender:
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: HSRRB
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_C04_241096
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_D11_256094
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CCK-81

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 2 69870218 69870229 CCK81_LARGE_INT... 37 5'UTR Del TTTTT... - uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
AATK p.T828M 17 79095253 79095253 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc010dia.2 AATK_uc010dhz.2... Hybrid_Cap... view
ABCA3 p.R921H 16 2338269 2338269 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCC3 17 48741524 48741524 CCK81_LARGE_INT... 37 Intron SNP T C uc002isl.2 ABCC3_uc002isk.... Hybrid_Cap... view
ABCC4 p.I1219fs 13 95696016 95696016 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc001vmd.3 ABCC4_uc010afj.... Hybrid_Cap...
ABL2 1 179086420 179086420 CCK81_LARGE_INT... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ACACA p.R1485W 17 35548180 35548180 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACB p.E1436D 12 109671811 109671811 CCK81_LARGE_INT... 37 Missense_Mutation SNP G T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACVR1 p.W98R 2 158636888 158636888 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc002tzm.3 ACVR1_uc002tzn.... Hybrid_Cap... view
ACVR2A p.K435fs 2 148683686 148683686 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ADAM22 p.D705N 7 87792376 87792376 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A rs117117377 uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM28 8 24211994 24211997 CCK81_LARGE_INT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.F695fs 16 77356311 77356311 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap...
ADCK1 14 78390632 78390637 CCK81_LARGE_INT... 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
ADCK5 p.L15P 8 145603107 145603107 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc003zch.2 ADCK5_uc003zcg.... Hybrid_Cap... view
AFF1 p.I64M 4 87967879 87967879 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc011ccz.1 AFF1_uc011ccx.1... Hybrid_Cap... view
AFF3 2 100623973 100623974 CCK81_LARGE_INT... 37 Intron DNP CG TA uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap...
AFF4 p.K569fs 5 132232616 132232616 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap...
AIFM3 22 21335436 21335436 CCK81_LARGE_INT... 37 3'UTR SNP C A uc002ztj.2 AIFM3_uc002ztk.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 CCK81_LARGE_INT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.S1471L 14 33291431 33291431 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001wrq.2 Hybrid_Cap... view
AKAP9 7 91625184 91625184 CCK81_LARGE_INT... 37 Intron Del T - uc003ulg.2 AKAP9_uc003uld.... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 CCK81_LARGE_INT... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.R3310W 7 91726201 91726201 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
AMHR2 p.R265fs 12 53819645 53819645 CCK81_LARGE_INT... 37 Frame_Shift_Del Del G - uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap...
AMHR2 p.C487G 12 53824994 53824994 CCK81_LARGE_INT... 37 Missense_Mutation SNP T G uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
ANKK1 p.G723* 11 113270858 113270858 CCK81_LARGE_INT... 37 Nonsense_Mutation SNP G T uc001pny.2 Hybrid_Cap... view
APC p.Y159C 5 112111379 112111379 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
AR X 66943842 66943842 CCK81_LARGE_INT... 37 3'UTR Del T - uc004dwu.1 AR_uc004dwv.1_3... Hybrid_Cap...
ARAF p.G163R X 47424679 47424679 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc011mlq.1 ARAF_uc011mln.1... Hybrid_Cap... view
ARAF p.T224M X 47426151 47426151 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc011mlq.1 ARAF_uc011mln.1... Hybrid_Cap... view
ARID1A 1 27107264 27107264 CCK81_LARGE_INT... 37 3'UTR Del C - uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ATR p.I774fs 3 142274740 142274740 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc003eux.3 Hybrid_Cap...
ATRX p.Q2421* X 76764047 76764047 CCK81_LARGE_INT... 37 Nonsense_Mutation SNP G A uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
ATRX p.H2252R X 76778824 76778824 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
AURKC 19 57742494 57742507 CCK81_LARGE_INT... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAG4 p.I380fs 8 38067777 38067778 CCK81_LARGE_INT... 37 Frame_Shift_Ins Ins - A uc003xky.1 BAG4_uc003xkz.1... Hybrid_Cap...
BAG4 p.E453fs 8 38067995 38067995 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc003xky.1 BAG4_uc003xkz.1... Hybrid_Cap...
BAI1 p.G1321S 8 143623556 143623556 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc003ywm.2 Hybrid_Cap... view
BAP1 p.G307D 3 52439792 52439792 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003ddx.2 BAP1_uc003ddw.2... Hybrid_Cap... view
BAX 19 49464508 49464510 CCK81_LARGE_INT... 37 3'UTR Del TTT - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BAX 19 49464976 49464976 CCK81_LARGE_INT... 37 3'UTR SNP C T uc002plk.2 BAX_uc010xzx.1_... Hybrid_Cap... view
BCL3 19 45262965 45262966 CCK81_LARGE_INT... 37 3'UTR Del CC - uc010xxe.1 Hybrid_Cap...
BCL9 p.P514fs 1 147091501 147091501 CCK81_LARGE_INT... 37 Frame_Shift_Del Del C - uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap...
BIK 22 43525478 43525478 CCK81_LARGE_INT... 37 3'UTR SNP T C uc003bdk.2 Hybrid_Cap... view
BIRC5 17 76219871 76219871 CCK81_LARGE_INT... 37 3'UTR SNP C T uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap... view
BIRC6 p.Y4557H 2 32822874 32822874 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc010ezu.2 Hybrid_Cap... view
BLNK 10 97951714 97951715 CCK81_LARGE_INT... 37 3'UTR Ins - T uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap...
BLNK 10 97951723 97951723 CCK81_LARGE_INT... 37 3'UTR SNP C T uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BMP2K p.Q486del 4 79792083 79792085 CCK81_LARGE_INT... 37 In_Frame_Del Del CAG - uc003hlk.2 BMP2K_uc010ijl.... Hybrid_Cap...
BMP4 14 54416619 54416619 CCK81_LARGE_INT... 37 3'UTR SNP T A rs76149166 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap... view
BMPR1A p.P57fs 10 88649922 88649922 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc001kdy.2 Hybrid_Cap...
BMPR2 p.E581fs 2 203420130 203420130 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap...
BRAF p.S273N 7 140501254 140501254 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003vwc.3 Hybrid_Cap... view
BRCA1 p.N976S 17 41244621 41244621 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
BRCA1 p.H553R 17 41245890 41245890 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
BRCA2 p.R2973H 13 32953617 32953617 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A rs80359143 uc001uub.1 Hybrid_Cap... view
BRCA2 p.T3030fs 13 32954023 32954023 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc001uub.1 Hybrid_Cap...
BTG1 12 92537707 92537707 CCK81_LARGE_INT... 37 3'UTR Del T - uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BTK p.V147I X 100625040 100625040 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc010nno.2 BTK_uc004ehg.2_... Hybrid_Cap... view
BUB1 2 111395467 111395468 CCK81_LARGE_INT... 37 3'UTR Ins - A uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap...
CABC1 1 227171736 227171737 CCK81_LARGE_INT... 37 Intron Del GG - rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18629707 18629707 CCK81_LARGE_INT... 37 Intron SNP T C uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CACNB2 10 18828721 18828722 CCK81_LARGE_INT... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK4 p.K83fs 5 110710554 110710554 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc011cvj.1 CAMK4_uc003kpf.... Hybrid_Cap...
CAMKK2 12 121712338 121712338 CCK81_LARGE_INT... 37 5'UTR SNP C T uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CASK p.V25A X 41712466 41712466 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc004dfl.3 CASK_uc004dfm.3... Hybrid_Cap... view
CASP1 11 104896805 104896805 CCK81_LARGE_INT... 37 Intron SNP C T uc010rve.1 CASP5_uc010ruz.... Hybrid_Cap... view
CBFA2T3 p.G106R 16 88964549 88964549 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc002fmm.1 CBFA2T3_uc002fm... Hybrid_Cap... view
CCL4 17 34432841 34432841 CCK81_LARGE_INT... 37 3'UTR SNP C T rs1049824 uc002hkw.1 CCL4_uc002hkx.1... Hybrid_Cap... view
CCND2 12 4409271 4409271 CCK81_LARGE_INT... 37 3'UTR Del A - uc001qmo.2 Hybrid_Cap...
CCNE1 19 30312891 30312891 CCK81_LARGE_INT... 37 Intron SNP G A uc002nsn.2 CCNE1_uc002nso.... Hybrid_Cap... view
CCNT1 12 49110579 49110579 CCK81_LARGE_INT... 37 5'UTR SNP C T uc001rse.1 CCNT1_uc009zkz.... Hybrid_Cap... view
CCR4 p.L325fs 3 32995888 32995888 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc003cfg.1 Hybrid_Cap...
CCR5 3 46415537 46415537 CCK81_LARGE_INT... 37 3'UTR SNP G A uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CCR6 6 167417357 167417357 CCK81_LARGE_INT... 37 De_novo_Start_OutOfFrame SNP A G uc003qvl.2 FGFR1OP_uc011eg... Hybrid_Cap... view
CDC73 p.V423A 1 193202236 193202236 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001gtb.2 Hybrid_Cap... view
CDH1 16 68867612 68867613 CCK81_LARGE_INT... 37 3'UTR Del TT - uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap...
CDH3 16 68732316 68732316 CCK81_LARGE_INT... 37 3'UTR SNP C T uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 CCK81_LARGE_INT... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK13 p.T1246M 7 40133777 40133777 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CDK14 p.G226fs 7 90528642 90528642 CCK81_LARGE_INT... 37 Frame_Shift_Del Del G - uc003uky.2 CDK14_uc003ukz.... Hybrid_Cap...
CDK2 p.L175M 12 56363295 56363295 CCK81_LARGE_INT... 37 Missense_Mutation SNP C A uc001sit.3 CDK2_uc001siu.3... Hybrid_Cap... view
CDK8 p.V345fs 13 26975408 26975408 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap...
CEP110 p.A949D 9 123904523 123904523 CCK81_LARGE_INT... 37 Missense_Mutation SNP C A uc004bkx.1 CEP110_uc004bky... Hybrid_Cap... view
CHD1 5 98208017 98208017 CCK81_LARGE_INT... 37 Intron Del T - uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD8 14 21853630 21853635 CCK81_LARGE_INT... 37 3'UTR Del TTTTT... - rs78520772;rs78304393 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHEK2 p.S207N 22 29121066 29121066 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CHEK2 p.R175fs 22 29121281 29121281 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap...
CHIC2 4 54876131 54876132 CCK81_LARGE_INT... 37 3'UTR Del AC - rs68107873;rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CHIC2 4 54876145 54876145 CCK81_LARGE_INT... 37 3'UTR Del A - uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CHUK p.E712G 10 101950699 101950699 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001kqp.2 Hybrid_Cap... view
CHUK p.M507fs 10 101961894 101961895 CCK81_LARGE_INT... 37 Frame_Shift_Ins Ins - T uc001kqp.2 Hybrid_Cap...
CIC p.P1528fs 19 42799098 42799098 CCK81_LARGE_INT... 37 Frame_Shift_Del Del C - uc002otf.1 Hybrid_Cap...
CIITA p.S253R 16 10996640 10996640 CCK81_LARGE_INT... 37 Missense_Mutation SNP A C uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CIT p.E1994D 12 120128160 120128160 CCK81_LARGE_INT... 37 Missense_Mutation SNP C A uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLK3 p.T391A 15 74918219 74918219 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc010uln.1 CLK3_uc002ayg.3... Hybrid_Cap... view
CLTC p.P417del 17 57738871 57738873 CCK81_LARGE_INT... 37 In_Frame_Del Del CTC - uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 CCK81_LARGE_INT... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 p.K416fs 3 1371501 1371501 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap...
COL14A1 p.Q763H 8 121243797 121243797 CCK81_LARGE_INT... 37 Missense_Mutation SNP G T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
CREBBP p.Q482R 16 3832813 3832813 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.R14fs 16 3929878 3929878 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
CRTC1 p.S585fs 19 18887993 18887993 CCK81_LARGE_INT... 37 Frame_Shift_Del Del C - uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap...
CSF1R 5 149433400 149433401 CCK81_LARGE_INT... 37 3'UTR Ins - C rs66970099;rs78449650 uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap...
CSNK1D p.R299Q 17 80207468 80207468 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc002kef.2 SLC16A3_uc002ke... Hybrid_Cap... view
CTNNB1 p.T41A 3 41266124 41266124 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CTSS 1 150722473 150722473 CCK81_LARGE_INT... 37 Intron SNP A T uc001evn.2 CTSS_uc010pcj.1... Hybrid_Cap... view
CUBN p.H1891R 10 16981023 16981023 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001ioo.2 Hybrid_Cap... view
CXCL12 10 44873992 44873993 CCK81_LARGE_INT... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CXCR4 2 136872415 136872415 CCK81_LARGE_INT... 37 3'UTR Del A - uc002tuy.2 CXCR4_uc010fnk.... Hybrid_Cap...
CXCR7 p.C302Y 2 237490013 237490013 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc010fyq.2 CXCR7_uc002vwd.... Hybrid_Cap... view
CYP1B1 2 38297654 38297655 CCK81_LARGE_INT... 37 3'UTR Ins - A rs9341258 uc002rqo.2 Hybrid_Cap...
CYP24A1 p.Y293C 20 52779368 52779368 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc002xwv.2 CYP24A1_uc002xw... Hybrid_Cap... view
DBF4 p.E23fs 7 87507389 87507389 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc003ujf.1 SLC25A40_uc003u... Hybrid_Cap...
DFFA 1 10521380 10521380 CCK81_LARGE_INT... 37 3'UTR Del A - uc001arj.2 DFFA_uc001ark.2... Hybrid_Cap...
DLC1 p.E1139G 8 12952378 12952378 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DLL1 p.A564T 6 170592677 170592677 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003qxm.2 Hybrid_Cap... view
DMPK 19 46273464 46273465 CCK81_LARGE_INT... 37 3'UTR DNP AG CC uc002pdi.1 SIX5_uc002pdb.2... Hybrid_Cap...
DNAH8 p.L1040I 6 38791386 38791386 CCK81_LARGE_INT... 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DNAH8 p.G3545D 6 38899597 38899597 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
DNAH8 6 38952247 38952248 CCK81_LARGE_INT... 37 Intron Del CA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DNAH8 p.A4296D 6 38980237 38980237 CCK81_LARGE_INT... 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DOCK3 p.T1850fs 3 51417604 51417604 CCK81_LARGE_INT... 37 Frame_Shift_Del Del C - uc011bds.1 Hybrid_Cap...
DRD2 p.V59M 11 113295199 113295199 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DST 6 56470093 56470093 CCK81_LARGE_INT... 37 Intron Del T - uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
DST 6 56484127 56484127 CCK81_LARGE_INT... 37 Intron SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A p.R683H 21 38884590 38884590 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap... view
ECM1 1 150483697 150483697 CCK81_LARGE_INT... 37 Intron Del G - uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap...
EGFR p.Y1069C 7 55270253 55270253 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap... view
EIF2AK4 p.K769fs 15 40270334 40270334 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap...
EIF2AK4 p.A878A 15 40284378 40284378 CCK81_LARGE_INT... 37 Silent SNP T C uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EIF3A p.S881S 10 120809328 120809328 CCK81_LARGE_INT... 37 Silent SNP A G uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EIF4A1 p.M121V 17 7479857 7479857 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc002gho.1 EIF4A1_uc002ghr... Hybrid_Cap... view
EIF4B p.W199R 12 53416339 53416339 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc010snu.1 EIF4B_uc009zmp.... Hybrid_Cap... view
EIF4G1 p.R886C 3 184042681 184042681 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
EIF5A p.T166A 17 7214900 7214900 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc002gfr.2 EIF5A_uc010vtv.... Hybrid_Cap... view
ELK1 X 47500596 47500596 CCK81_LARGE_INT... 37 Intron Del G - uc004dik.3 ELK1_uc010nhv.2... Hybrid_Cap...
EML4 2 42513400 42513400 CCK81_LARGE_INT... 37 Intron Del T - uc002rsi.2 EML4_uc010fap.2... Hybrid_Cap...
EPHA10 p.P891S 1 38185171 38185171 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc009vvi.2 EPHA10_uc001cbt... Hybrid_Cap... view
EPHA2 p.S749N 1 16458638 16458638 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001aya.1 Hybrid_Cap... view
EPHA4 2 222290624 222290624 CCK81_LARGE_INT... 37 3'UTR Del T - uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA4 2 222290668 222290668 CCK81_LARGE_INT... 37 3'UTR Del A - uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA4 p.T121M 2 222428912 222428912 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA5 p.E871G 4 66213821 66213821 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 CCK81_LARGE_INT... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB2 p.M90T 1 23111027 23111027 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
EPHB2 p.M341V 1 23191423 23191423 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
EPHB4 p.S575L 7 100411306 100411306 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A rs60537976 uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPHB4 p.W9* 7 100424626 100424626 CCK81_LARGE_INT... 37 Nonsense_Mutation SNP C T uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPHB6 p.Y230C 7 142562247 142562247 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
EPS15 1 51822220 51822220 CCK81_LARGE_INT... 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
EPS15 1 51822189 51822191 CCK81_LARGE_INT... 37 3'UTR Del AAA - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
ERBB2 p.L720P 17 37879864 37879864 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc002hso.2 ERBB2_uc002hsm.... Hybrid_Cap... view
ERBB3 12 56479100 56479100 CCK81_LARGE_INT... 37 Intron SNP T C uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB4 p.L780P 2 212426776 212426776 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERC1 p.R396C 12 1219382 1219382 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERC1 p.R631C 12 1291106 1291106 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERCC6 p.L1225P 10 50678332 50678332 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap... view
ERCC6 p.R464Q 10 50732085 50732085 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001jhs.3 PGBD3_uc001jht.... Hybrid_Cap... view
ERCC6 p.K187fs 10 50736555 50736555 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc001jhs.3 PGBD3_uc009xoe.... Hybrid_Cap...
ETV1 7 14028708 14028708 CCK81_LARGE_INT... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EXT1 8 118811807 118811809 CCK81_LARGE_INT... 37 3'UTR Del TTT - uc003yok.1 Hybrid_Cap...
EXT2 p.A663V 11 44255747 44255747 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001mya.2 EXT2_uc010rfo.1... Hybrid_Cap... view
F8 p.S1968N X 154132276 154132276 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc004fmt.2 F8_uc010nvi.1_M... Hybrid_Cap... view
FANCD2 3 10081677 10081677 CCK81_LARGE_INT... 37 Intron Del A - uc003buw.2 FANCD2_uc003bux... Hybrid_Cap...
FANCD2 3 10083230 10083230 CCK81_LARGE_INT... 37 Intron SNP A G uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FBN2 p.L2853F 5 127595329 127595329 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc003kuu.2 Hybrid_Cap... view
FBXW7 p.R465C 4 153249385 153249385 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FCRL4 p.R341G 1 157556072 157556072 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001fqw.2 FCRL4_uc010phy.... Hybrid_Cap... view
FER p.L474fs 5 108290522 108290522 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc003kop.1 FER_uc011cvf.1_... Hybrid_Cap...
FFAR2 p.D269fs 19 35941423 35941423 CCK81_LARGE_INT... 37 Frame_Shift_Del Del C - uc002nzg.2 FFAR2_uc010eea.... Hybrid_Cap...
FGFR1OP 6 167453520 167453520 CCK81_LARGE_INT... 37 3'UTR Del T - uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 10 123276801 123276801 CCK81_LARGE_INT... 37 Intron Del A - uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap...
FKBP1A p.T86T 20 1352825 1352825 CCK81_LARGE_INT... 37 Silent SNP A G uc002wey.2 FKBP1A_uc010gac... Hybrid_Cap... view
FLI1 11 128638217 128638217 CCK81_LARGE_INT... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.T1685T X 153583355 153583355 CCK81_LARGE_INT... 37 Silent SNP C T uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FLNC p.R2173C 7 128494060 128494060 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLT1 p.V1214A 13 28883059 28883059 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc001usb.3 FLT1_uc010aap.2... Hybrid_Cap... view
FN1 2 216244182 216244185 CCK81_LARGE_INT... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FN1 2 216248970 216248970 CCK81_LARGE_INT... 37 Intron SNP A G uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FOXP1 3 71008342 71008344 CCK81_LARGE_INT... 37 3'UTR Del TTT - rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FOXP1 p.S388G 3 71027165 71027165 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
FUS p.G489D 16 31202353 31202353 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002ebi.2 FUS_uc002ebf.2_... Hybrid_Cap... view
FUS p.G256R 16 31198124 31198124 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002ebi.2 FUS_uc002ebf.2_... Hybrid_Cap... view
GATA1 p.N226D X 48650807 48650807 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc004dkq.3 Hybrid_Cap... view
GLI1 p.T827I 12 57865003 57865003 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001snx.2 GLI1_uc009zpq.2... Hybrid_Cap... view
GLI2 p.R229H 2 121726332 121726332 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc010flp.2 GLI2_uc002tmq.1... Hybrid_Cap... view
GLI3 p.G1133R 7 42005274 42005274 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GLI3 p.P1033fs 7 42005573 42005573 CCK81_LARGE_INT... 37 Frame_Shift_Del Del G - uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap...
GNRH1 8 25276877 25276877 CCK81_LARGE_INT... 37 3'UTR SNP A T uc003xem.3 PPP2R2A_uc003xe... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 CCK81_LARGE_INT... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR183 p.I63fs 13 99948213 99948213 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc001vog.2 UBAC2_uc001voa.... Hybrid_Cap...
GRIA3 X 122318386 122318387 CCK81_LARGE_INT... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.Y1411C 16 9857169 9857169 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GRIN2B p.R903H 12 13717464 13717464 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001rbt.2 Hybrid_Cap... view
GRIN2B p.R371S 12 13828691 13828691 CCK81_LARGE_INT... 37 Missense_Mutation SNP C A uc001rbt.2 Hybrid_Cap... view
GSK3A p.S266_splice 19 42738612 42738612 CCK81_LARGE_INT... 37 Splice_Site_SNP SNP C T uc002otb.1 GSK3A_uc002ota.... Hybrid_Cap... view
GUCY2C p.M379R 12 14825841 14825841 CCK81_LARGE_INT... 37 Missense_Mutation SNP A C uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 CCK81_LARGE_INT... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 5 82937252 82937252 CCK81_LARGE_INT... 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HDAC6 p.L119P X 48663889 48663889 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc011mmi.1 HDAC6_uc004dkr.... Hybrid_Cap... view
HECW1 p.R1232H 7 43546799 43546799 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HERC2 p.G4436S 15 28362267 28362267 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001zbj.2 HERC2_uc001zbi.... Hybrid_Cap... view
HERC2 p.L3306S 15 28419681 28419681 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc001zbj.2 Hybrid_Cap... view
HIF1A 14 62213929 62213930 CCK81_LARGE_INT... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK4 p.V171A 19 40890000 40890000 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc002onp.2 Hybrid_Cap... view
HMMR p.K665fs 5 162917426 162917426 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc003lzh.2 HMMR_uc003lzf.2... Hybrid_Cap...
HNF1A 12 121434630 121434631 CCK81_LARGE_INT... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 CCK81_LARGE_INT... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IFNA2 9 21384634 21384634 CCK81_LARGE_INT... 37 3'UTR Del A - uc003zpb.2 Hybrid_Cap...
IGFBP5 2 217541461 217541461 CCK81_LARGE_INT... 37 3'UTR Del G - uc002vgj.3 Hybrid_Cap...
IL1R2 p.K230fs 2 102638649 102638649 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc002tbm.2 IL1R2_uc002tbn.... Hybrid_Cap...
IL6ST p.V776A 5 55237340 55237340 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
ILK 11 6630029 6630029 CCK81_LARGE_INT... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41729122 41729123 CCK81_LARGE_INT... 37 3'UTR Del TT - uc003thq.2 INHBA_uc003thr.... Hybrid_Cap...
IRAK2 p.R43W 3 10219554 10219554 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003bve.1 Hybrid_Cap... view
IRAK2 p.K350T 3 10264355 10264355 CCK81_LARGE_INT... 37 Missense_Mutation SNP A C uc003bve.1 Hybrid_Cap... view
IRS1 p.G597fs 2 227661664 227661664 CCK81_LARGE_INT... 37 Frame_Shift_Del Del C - uc002voh.3 Hybrid_Cap...
ITGB1 p.P825P 10 33190536 33190536 CCK81_LARGE_INT... 37 Silent SNP C T uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap... view
ITGB1 p.Y219C 10 33214929 33214929 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap... view
ITGB4 p.E532A 17 73729711 73729711 CCK81_LARGE_INT... 37 Missense_Mutation SNP A C uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 CCK81_LARGE_INT... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK1 p.V938A 1 65305315 65305315 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
JARID2 6 15246694 15246695 CCK81_LARGE_INT... 37 5'UTR Ins - T uc003nbj.2 JARID2_uc011diu... Hybrid_Cap...
JUNB p.P103H 19 12902893 12902893 CCK81_LARGE_INT... 37 Missense_Mutation SNP C A uc002mvc.2 JUNB_uc002mvb.2... Hybrid_Cap... view
JUND 19 18391193 18391193 CCK81_LARGE_INT... 37 3'UTR Del C - uc002nip.2 Hybrid_Cap...
KCNH2 p.L401M 7 150649869 150649869 CCK81_LARGE_INT... 37 Missense_Mutation SNP G T uc003wic.2 KCNH2_uc003wib.... Hybrid_Cap... view
KIAA2022 p.T326A X 73963416 73963416 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 CCK81_LARGE_INT... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KSR1 17 25949051 25949051 CCK81_LARGE_INT... 37 3'UTR SNP G A uc010crg.2 KSR1_uc002gzo.1... Hybrid_Cap... view
KSR2 p.R73H 12 118298112 118298112 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001two.2 Hybrid_Cap... view
KTN1 14 56150851 56150851 CCK81_LARGE_INT... 37 3'UTR Del A - uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap...
LAMA1 p.A582V 18 7036080 7036080 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMA1 p.M2248V 18 6973088 6973088 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMP1 p.D312G 13 113975777 113975777 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc001vtm.1 LAMP1_uc010tka.... Hybrid_Cap... view
LATS2 p.R817G 13 21557396 21557396 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap... view
LATS2 13 21620223 21620223 CCK81_LARGE_INT... 37 5'UTR Del A - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LEMD1 p.K37fs 1 205388453 205388453 CCK81_LARGE_INT... 37 Frame_Shift_Del Del T - uc001hci.1 LEMD1_uc001hcj.... Hybrid_Cap...
LIMK2 p.A571fs 22 31672776 31672777 CCK81_LARGE_INT... 37 Frame_Shift_Ins Ins - C uc003akj.2 LIMK2_uc003akg.... Hybrid_Cap...
LMNA 1 156109095 156109095 CCK81_LARGE_INT... 37 3'UTR Del A - uc001fni.2 LMNA_uc001fnh.2... Hybrid_Cap...
LMNA p.L61I 1 156084890 156084890 CCK81_LARGE_INT... 37 Missense_Mutation SNP C A uc001fni.2 LMNA_uc001fnf.1... Hybrid_Cap... view
LRP1B p.C3382R 2 141202162 141202162 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc002tvj.1 Hybrid_Cap... view
LRP6 12 12273985 12273985 CCK81_LARGE_INT... 37 3'UTR Del C - uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap...
LRP6 p.S275G 12 12339878 12339878 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
LRRC7 p.Q69Q 1 70257743 70257743 CCK81_LARGE_INT... 37 Silent SNP A G uc001dep.2 LRRC7_uc001deo.... Hybrid_Cap... view
LRRK1 p.L516M 15 101555544 101555544 CCK81_LARGE_INT... 37 Missense_Mutation SNP C A uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
LRRK1 p.S786F 15 101566294 101566294 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
LRRK2 p.M1431T 12 40703010 40703010 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap... view
LRRK2 12 40761370 40761370 CCK81_LARGE_INT... 37 Intron SNP T C uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap... view
LZTR1 p.G248R 22 21344765 21344765 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002zto.2 LZTR1_uc002ztn.... Hybrid_Cap... view
MAF 16 79628537 79628538 CCK81_LARGE_INT... 37 Intron Del TT - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.A42T 11 96074936 96074936 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001pfw.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 CCK81_LARGE_INT... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67516341 67516342 CCK81_LARGE_INT... 37 Intron Del TT - uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap...
MAP3K1 p.I1365L 5 56181869 56181869 CCK81_LARGE_INT... 37 Missense_Mutation SNP A C uc003jqw.3 Hybrid_Cap... view
MAP3K5 6 136878752 136878755 CCK81_LARGE_INT... 37 3'UTR Del TTTT - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAP3K5 p.V1223M 6 136888863 136888863 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap... view
MAP3K5 p.I832T 6 136932446 136932446 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap... view
MAP3K5 p.V800A 6 136934274 136934274 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap... view
MAP3K6 p.R244W 1 27690542 27690542 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap... view
MAP3K7 6 91226170 91226170 CCK81_LARGE_INT... 37 3'UTR Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAP3K7 6 91246268 91246268 CCK81_LARGE_INT... 37 Intron Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAPK4 18 48190246 48190246 CCK81_LARGE_INT... 37 5'UTR SNP C T uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MAPK7 p.A296T 17 19284408 19284408 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002gvn.2 B9D1_uc010cqm.1... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 CCK81_LARGE_INT... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAST4 p.F138del 5 66396328 66396330 CCK81_LARGE_INT... 37 In_Frame_Del Del CTT - uc003jut.1 MAST4_uc003jus.... Hybrid_Cap...
MAX 14 65543066 65543066 CCK81_LARGE_INT... 37 3'UTR Del A - uc001xif.1 MAX_uc001xic.1_... Hybrid_Cap...
MCF2 p.F687fs X 138684569 138684569 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc011mwo.1 MCF2_uc004fau.2... Hybrid_Cap...
MCM3AP p.Q1447P 21 47666751 47666751 CCK81_LARGE_INT... 37 Missense_Mutation SNP T G uc002zir.1 MCM3APAS_uc002z... Hybrid_Cap... view
MDM2 12 69233887 69233888 CCK81_LARGE_INT... 37 3'UTR Del TT - uc001sui.2 MDM2_uc009zri.2... Hybrid_Cap...
MDM4 p.A123A 1 204506583 204506583 CCK81_LARGE_INT... 37 Silent SNP A G uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap... view
MDM4 p.V267A 1 204513790 204513790 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap... view
MERTK p.G484_splice 2 112751982 112751982 CCK81_LARGE_INT... 37 Splice_Site_SNP SNP G A uc002thk.1 MERTK_uc002thl.... Hybrid_Cap... view
MFSD2A 1 40435515 40435515 CCK81_LARGE_INT... 37 3'UTR Del T - rs79314830 uc001cev.2 MFSD2A_uc001ceu... Hybrid_Cap...
MINK1 p.K452R 17 4793819 4793819 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc010vsl.1 MINK1_uc010vsk.... Hybrid_Cap... view
MKL1 p.L489P 22 40814976 40814976 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc003ayv.1 MKL1_uc003ayw.1... Hybrid_Cap... view
MLH1 p.T117M 3 37045935 37045935 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap... view
MLL p.I3841V 11 118392010 118392010 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc001ptb.2 MLL_uc001pta.2_... Hybrid_Cap... view
MLL3 p.T693A 7 151945442 151945442 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc003wla.2 Hybrid_Cap... view
MLLT10 p.P807L 10 22021981 22021981 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MLLT3 p.155_156SS>S 9 20414377 20414379 CCK81_LARGE_INT... 37 In_Frame_Del Del CTG - uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MLLT4 p.Y1374H 6 168352178 168352178 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap... view
MLLT6 17 36881873 36881873 CCK81_LARGE_INT... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MN1 p.G82fs 22 28196286 28196286 CCK81_LARGE_INT... 37 Frame_Shift_Del Del C - uc003adj.2 Hybrid_Cap...
MRE11A 11 94225846 94225846 CCK81_LARGE_INT... 37 Intron Del C - uc001peu.2 MRE11A_uc001pev... Hybrid_Cap...
MSH2 p.L175P 2 47637390 47637390 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C rs63751291 uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MSH3 p.L414P 5 79974813 79974813 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc003kgz.2 Hybrid_Cap... view
MSI2 p.H171R 17 55674286 55674286 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc002iuz.1 MSI2_uc010wnm.1... Hybrid_Cap... view
MTMR11 1 149902648 149902648 CCK81_LARGE_INT... 37 Intron Del A - uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap...
MTOR p.L342P 1 11307967 11307967 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc001asd.2 Hybrid_Cap... view
MYH11 p.N1906S 16 15808856 15808856 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C rs79129097 uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYLK p.E1430_splice 3 123368043 123368044 CCK81_LARGE_INT... 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 CCK81_LARGE_INT... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK p.Q63R 3 123471363 123471363 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap... view
MYO18B p.R1995W 22 26351157 26351157 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYO3A p.Y207H 10 26310465 26310465 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap... view
MYO3B p.N388S 2 171239677 171239677 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G rs34273653 uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
MYO3B p.P409fs 2 171240259 171240259 CCK81_LARGE_INT... 37 Frame_Shift_Del Del C - uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap...
MYO3B p.V1037A 2 171355197 171355198 CCK81_LARGE_INT... 37 Missense_Mutation DNP TA CG rs6761297 uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap...
MYO3B 2 171509682 171509682 CCK81_LARGE_INT... 37 3'UTR SNP T G uc002ufy.2 MYO3B_uc002ufz.... Hybrid_Cap... view
MYST3 p.L342S 8 41836178 41836178 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
MYT1 p.R870H 20 62859258 62859258 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002yii.2 MYT1_uc002yih.2... Hybrid_Cap... view
N4BP2 p.D82N 4 40103709 40103709 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc003guy.3 N4BP2_uc010ifq.... Hybrid_Cap... view
NACA p.A1917V 12 57108219 57108219 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A rs11555460 uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NAV3 p.V1544A 12 78534062 78534062 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NAV3 p.S2095P 12 78583991 78583991 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NBN 8 90947598 90947599 CCK81_LARGE_INT... 37 3'UTR Ins - A uc003yej.1 NBN_uc003yei.1_... Hybrid_Cap...
NCAM1 11 112832307 112832308 CCK81_LARGE_INT... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 CCK81_LARGE_INT... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCKIPSD p.S455T 3 48717134 48717134 CCK81_LARGE_INT... 37 Missense_Mutation SNP A T uc003cun.2 NCKIPSD_uc003cu... Hybrid_Cap... view
NCOA2 p.R1240G 8 71039246 71039246 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc003xyn.1 NCOA2_uc011lfb.... Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279864 46279866 CCK81_LARGE_INT... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEDD9 p.A728T 6 11185718 11185718 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003mzv.2 NEDD9_uc010joz.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 CCK81_LARGE_INT... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK5 13 52639269 52639270 CCK81_LARGE_INT... 37 3'UTR Del AA - uc001vge.2 Hybrid_Cap...
NEK9 p.P874H 14 75553917 75553917 CCK81_LARGE_INT... 37 Missense_Mutation SNP G T uc001xrl.2 NEK9_uc001xrj.2... Hybrid_Cap... view
NF2 p.P170fs 22 30050708 30050708 CCK81_LARGE_INT... 37 Frame_Shift_Del Del A - uc003age.3 NF2_uc003afy.3_... Hybrid_Cap...
NFIA 1 61921186 61921187 CCK81_LARGE_INT... 37 3'UTR Del TT - rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIPBL 5 37051862 37051862 CCK81_LARGE_INT... 37 Intron Del T - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NOTCH2 p.R869W 1 120491184 120491184 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc001eik.2 NOTCH2_uc001eil... Hybrid_Cap... view
NOTCH3 p.A1802fs 19 15276861 15276861 CCK81_LARGE_INT... 37 Frame_Shift_Del Del C - uc002nan.2 Hybrid_Cap...
NOTCH3 p.T272M 19 15302456 15302456 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc002nan.2 NOTCH3_uc002nao... Hybrid_Cap... view
NOTCH4 p.12_16LLLLL>L 6 32191659 32191670 CCK81_LARGE_INT... 37 In_Frame_Del Del AGCAG... - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPAT 11 108040773 108040773 CCK81_LARGE_INT... 37 Intron Del A - uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap...
NPM1 5 170837734 170837734 CCK81_LARGE_INT... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 CCK81_LARGE_INT... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPR2 9 35809618 35809618 CCK81_LARGE_INT... 37 3'UTR SNP C A uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap... view
NPRL2 3 50384978 50384978 CCK81_LARGE_INT... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 CCK81_LARGE_INT... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR2F1 p.A338V 5 92929289 92929289 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc003kkj.2 Hybrid_Cap... view
NR3C1 p.K772fs 5 142661474 142661475 CCK81_LARGE_INT... 37 Frame_Shift_Ins Ins - T uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap...
NRBP1 p.L188P 2 27657626 27657626 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc002rko.2 NRBP1_uc002rkq.... Hybrid_Cap... view
NSD1 p.C810R 5 176637828 176637828 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
NTRK3 p.Y604C 15 88476321 88476321 CCK81_LARGE_INT... 37 Missense_Mutation SNP T C uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NUP98 11 3697276 3697276 CCK81_LARGE_INT... 37 3'UTR SNP G A uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
OBSCN p.R7715C 1 228564856 228564856 CCK81_LARGE_INT... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap... view
ODZ1 p.V1789A X 123538906 123538906 CCK81_LARGE_INT... 37 Missense_Mutation SNP A G uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
ODZ1 p.T1563I X 123554455 123554455 CCK81_LARGE_INT... 37 Missense_Mutation SNP G A uc010nqy.2