Annotation Summary for Cell Line: SNU-C5  

Cell line primary name: SNU-C5
Cell line aliases:
Gender: F
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: KCLB
Expression arrays: BITTS_p_NCLE_RNA12_HG-U133_Plus_2_G02_698914
SNP arrays: QUAFF_p_NCLE_DNAAffy12_GenomeWideSNP_6_D07_592662
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNU-C5

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 p.541_542QQ>Q 2 69741754 69741756 SNUC5_LARGE_INT... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC4 13 95673726 95673726 SNUC5_LARGE_INT... 37 3'UTR SNP T C uc001vmd.3 ABCC4_uc010afj.... Hybrid_Cap... view
ABI1 10 27037287 27037287 SNUC5_LARGE_INT... 37 3'UTR SNP G A uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap... view
ABI1 10 27037488 27037488 SNUC5_LARGE_INT... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL2 1 179086420 179086420 SNUC5_LARGE_INT... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ABL2 p.S1171L 1 179076890 179076890 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ACACB p.R231Q 12 109604704 109604704 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACACB p.R1298Q 12 109665186 109665186 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACSL6 p.P607S 5 131298266 131298266 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc003kvx.1 ACSL6_uc003kvv.... Hybrid_Cap... view
ACVR1B p.P124L 12 52370150 52370150 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap... view
ACVR2A p.K435fs 2 148683686 148683686 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ADAM10 p.T397fs 15 58920068 58920069 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del TG - uc002afd.1 ADAM10_uc010bgc... Hybrid_Cap...
ADAM22 7 87825809 87825809 SNUC5_LARGE_INT... 37 3'UTR SNP T A uc003ujn.2 ADAM22_uc003ujm... Hybrid_Cap... view
ADAM28 p.V69M 8 24167461 24167461 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 p.F156L 8 24170983 24170983 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SNUC5_LARGE_INT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.V205I 4 175897289 175897289 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
ADAM32 p.Y96* 8 39007321 39007321 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP C A uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
ADAMTS20 p.P297Q 12 43887034 43887034 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G T uc010skx.1 Hybrid_Cap... view
ADCK2 p.L338F 7 140374491 140374491 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G T uc003vvy.1 ADCK2_uc003vvz.... Hybrid_Cap... view
ADCK5 p.E341E 8 145617149 145617149 SNUC5_LARGE_INT... 37 Silent SNP A G uc003zch.2 ADCK5_uc003zcg.... Hybrid_Cap... view
AIFM3 22 21335399 21335400 SNUC5_LARGE_INT... 37 3'UTR Del CA - uc002ztj.2 AIFM3_uc002ztk.... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SNUC5_LARGE_INT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 14 33201982 33201983 SNUC5_LARGE_INT... 37 Intron Ins - T rs71868172 uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap...
ALDH7A1 p.M136I 5 125918652 125918652 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C A uc003ktx.2 ALDH7A1_uc003kt... Hybrid_Cap... view
ALK p.G640R 2 29498088 29498088 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002rmy.2 Hybrid_Cap... view
ALS2 p.Q435L 2 202622292 202622292 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T A uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
AMZ2 17 66246316 66246316 SNUC5_LARGE_INT... 37 Intron Del T - uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap...
ANKK1 p.I191fs 11 113265743 113265743 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del C - uc001pny.2 Hybrid_Cap...
APC p.R1790fs 5 112176660 112176661 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ARHGAP26 p.Y467H 5 142435618 142435618 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap... view
ARHGAP29 1 94643144 94643144 SNUC5_LARGE_INT... 37 Intron Del T - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARHGAP29 p.K781fs 1 94645419 94645419 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del T - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARHGAP29 p.G561_splice 1 94654391 94654391 SNUC5_LARGE_INT... 37 Splice_Site_SNP SNP A G uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGEF10 8 1817655 1817656 SNUC5_LARGE_INT... 37 Intron Ins - T rs57862449 uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap...
ARHGEF10 p.D359_splice 8 1833765 1833765 SNUC5_LARGE_INT... 37 Splice_Site_SNP SNP A G uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARID1A p.S764fs 1 27088682 27088682 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del C - uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap...
ASTN1 p.V80A 1 177133574 177133574 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATM p.Y2167* 11 108192076 108192076 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP T A uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
AURKC 19 57742531 57742532 SNUC5_LARGE_INT... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXL p.I819T 19 41765580 41765580 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BAP1 3 52443904 52443904 SNUC5_LARGE_INT... 37 5'UTR SNP G A uc003ddx.2 PHF7_uc003ddy.2... Hybrid_Cap... view
BAX p.M38fs 19 49458971 49458971 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del G - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BAX 19 49464508 49464510 SNUC5_LARGE_INT... 37 3'UTR Del TTT - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCL2L11 p.R153W 2 111907683 111907683 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002tgv.1 BCL2L11_uc002tg... Hybrid_Cap... view
BCL3 p.H119Q 19 45254584 45254584 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C G uc010xxe.1 Hybrid_Cap... view
BCL3 p.S275N 19 45260913 45260913 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc010xxe.1 Hybrid_Cap... view
BCL3 19 45262965 45262967 SNUC5_LARGE_INT... 37 3'UTR Del CCC - uc010xxe.1 Hybrid_Cap...
BCL9 p.G513fs 1 147091500 147091501 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - C uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap...
BMPR1B p.V132M 4 96045005 96045005 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc003htm.3 BMPR1B_uc010ilb... Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BRCA2 p.E826K 13 32910968 32910968 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001uub.1 Hybrid_Cap... view
BRD3 p.P24fs 9 136918529 136918529 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del G - uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap...
BRSK2 p.V597M 11 1475821 1475821 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001ltm.2 BRSK2_uc009ycv.... Hybrid_Cap... view
BTG1 12 92537707 92537707 SNUC5_LARGE_INT... 37 3'UTR Del T - uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BTRC p.Y171H 10 103281582 103281582 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc001kta.2 BTRC_uc001ktb.2... Hybrid_Cap... view
CACNB2 10 18828721 18828722 SNUC5_LARGE_INT... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602223 149602224 SNUC5_LARGE_INT... 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CAMK2B p.Q168* 7 44283039 44283039 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP G A uc003tkq.2 CAMK2B_uc003tkp... Hybrid_Cap... view
CAMK2D 4 114378393 114378393 SNUC5_LARGE_INT... 37 Intron SNP C T uc003ibo.3 CAMK2D_uc003ibi... Hybrid_Cap... view
CASP1 p.T74I 11 104904988 104904988 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CASP10 p.D172G 2 202057780 202057780 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc002uxj.1 CASP10_uc002uxi... Hybrid_Cap... view
CASP2 p.S276S 7 142997096 142997096 SNUC5_LARGE_INT... 37 Silent SNP G A uc003wco.2 CASP2_uc003wcp.... Hybrid_Cap... view
CASP7 10 115489477 115489477 SNUC5_LARGE_INT... 37 3'UTR Del T - uc001lao.2 CASP7_uc001lam.... Hybrid_Cap...
CASP9 1 15833611 15833611 SNUC5_LARGE_INT... 37 Intron SNP C T uc001awn.2 CASP9_uc001awm.... Hybrid_Cap... view
CCNB1IP1 p.L136M 14 20781852 20781852 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A T uc001vwv.2 CCNB1IP1_uc001v... Hybrid_Cap... view
CD40 20 44752028 44752028 SNUC5_LARGE_INT... 37 Intron Del T - uc002xrg.1 CD40_uc002xrf.1... Hybrid_Cap...
CDC25C p.K322fs 5 137627690 137627690 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del T - uc003lcs.1 CDC25C_uc003lcp... Hybrid_Cap...
CDC5L 6 44414655 44414655 SNUC5_LARGE_INT... 37 3'UTR SNP G A uc003oxl.2 Hybrid_Cap... view
CDK11B p.S371N 1 1575777 1575777 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc001agv.1 CDK11B_uc009vkj... Hybrid_Cap... view
CDK20 p.L203P 9 90584790 90584790 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc004apr.2 CDK20_uc004aps.... Hybrid_Cap... view
CDKL1 p.Y839C 14 50807905 50807905 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc010anu.1 CDKL1_uc001wxz.... Hybrid_Cap... view
CDKL2 p.K368fs 4 76522337 76522337 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del T - uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap...
CDKL3 5 133634209 133634209 SNUC5_LARGE_INT... 37 3'UTR Del A - uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap...
CDKL3 p.P232P 5 133655145 133655145 SNUC5_LARGE_INT... 37 Silent SNP G A uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap... view
CDKN1A p.C75R 6 36651999 36651999 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc011dtq.1 CDKN1A_uc003oml... Hybrid_Cap... view
CHD1 p.P1519R 5 98194688 98194688 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G C uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap... view
CHD1 p.G676D 5 98228382 98228382 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc003knf.2 Hybrid_Cap... view
CHD9 p.I1392V 16 53289656 53289656 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHEK2 p.F212L 22 29121052 29121052 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CHIC2 4 54876131 54876132 SNUC5_LARGE_INT... 37 3'UTR Del AC - rs68107873;rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CHN1 2 175664545 175664545 SNUC5_LARGE_INT... 37 3'UTR SNP G A uc002uji.2 CHN1_uc010zeq.1... Hybrid_Cap... view
CHN1 p.K159fs 2 175742640 175742640 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del T - uc002uji.2 CHN1_uc010zeq.1... Hybrid_Cap...
CHN1 p.R109H 2 175742791 175742791 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002uji.2 CHN1_uc010zeq.1... Hybrid_Cap... view
CHUK p.P298A 10 101977793 101977793 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G C uc001kqp.2 Hybrid_Cap... view
CIT p.G799D 12 120198768 120198768 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT 12 120222574 120222574 SNUC5_LARGE_INT... 37 Intron SNP A G uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLK2 p.L309I 1 155235659 155235659 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G T uc001fjy.2 RAG1AP1_uc010pe... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SNUC5_LARGE_INT... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 SNUC5_LARGE_INT... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL14A1 p.S715fs 8 121240955 121240956 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap...
COL14A1 p.Y1635H 8 121357628 121357628 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL3A1 2 189839199 189839199 SNUC5_LARGE_INT... 37 5'UTR SNP A G uc002uqj.1 Hybrid_Cap... view
COL3A1 p.R1260I 2 189873903 189873903 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G T uc002uqj.1 Hybrid_Cap... view
COX6C p.Y37H 8 100904141 100904141 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003yiy.1 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SNUC5_LARGE_INT... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.T1574A 16 3786045 3786045 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.Q1187* 16 3807860 3807860 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP G A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CRKL p.P18L 22 21272275 21272275 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002ztf.2 CRKL_uc002ztg.1... Hybrid_Cap... view
CRTC1 p.R142W 19 18856765 18856765 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap... view
CSMD3 8 113236854 113236854 SNUC5_LARGE_INT... 37 3'UTR Del A - uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap...
CSMD3 p.S3666P 8 113237128 113237128 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.R3359Q 8 113266516 113266516 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.K2558fs 8 113326156 113326157 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap...
CSMD3 p.N827K 8 113697636 113697636 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 8 114449090 114449090 SNUC5_LARGE_INT... 37 5'UTR SNP C T uc003ynu.2 CSMD3_uc011lhx.... Hybrid_Cap... view
CSNK2A2 p.A298S 16 58199548 58199548 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C A uc002enc.2 Hybrid_Cap... view
CSPG4 p.L2234P 15 75968159 75968159 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc002baw.2 Hybrid_Cap... view
CSPP1 p.H290H 8 68007782 68007782 SNUC5_LARGE_INT... 37 Silent SNP T C uc003xxi.2 CSPP1_uc003xxg.... Hybrid_Cap... view
CSPP1 p.S1100R 8 68092151 68092151 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T G uc003xxi.2 ARFGEF1_uc003xx... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTDSPL p.*277fs 3 38022357 38022357 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del A - uc003chg.2 CTDSPL_uc003chh... Hybrid_Cap...
CUBN p.S600A 10 17130312 17130312 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A C uc001ioo.2 Hybrid_Cap... view
CYLD p.Q932* 16 50830342 50830342 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP C T uc002egp.1 CYLD_uc002egq.1... Hybrid_Cap... view
CYP1A2 p.T438I 15 75047191 75047191 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T rs45486893 uc002ayr.1 Hybrid_Cap... view
CYP1B1 2 38297679 38297679 SNUC5_LARGE_INT... 37 3'UTR SNP C T uc002rqo.2 Hybrid_Cap... view
CYP24A1 p.V320D 20 52779287 52779287 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A T uc002xwv.2 CYP24A1_uc002xw... Hybrid_Cap... view
DACH1 13 72014707 72014707 SNUC5_LARGE_INT... 37 3'UTR Del T - uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DBN1 p.Q76* 5 176895144 176895144 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP G A uc003mgx.2 DBN1_uc003mgy.2... Hybrid_Cap... view
DGKB p.V421A 7 14661028 14661028 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DGKB p.Q405* 7 14661077 14661077 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP G A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DGKG 3 186038312 186038312 SNUC5_LARGE_INT... 37 5'UTR SNP A G uc003fqa.2 DGKG_uc003fqb.2... Hybrid_Cap... view
DGKG 3 186038369 186038369 SNUC5_LARGE_INT... 37 De_novo_Start_OutOfFrame SNP T A uc003fqa.2 DGKG_uc003fqb.2... Hybrid_Cap... view
DLC1 p.K796E 8 12957460 12957460 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DLL4 15 41230392 41230392 SNUC5_LARGE_INT... 37 3'UTR SNP G A uc001zng.1 Hybrid_Cap... view
DNAH8 p.T1369A 6 38810590 38810590 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003ooe.1 Hybrid_Cap... view
DPYD p.F707fs 1 97771791 97771791 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del A - uc001drv.2 Hybrid_Cap...
DUSP6 p.Y235C 12 89744499 89744499 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc001tay.2 DUSP6_uc001taz.... Hybrid_Cap... view
DYRK1A 21 38884967 38884967 SNUC5_LARGE_INT... 37 3'UTR Del T - uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
DYRK2 p.A159T 12 68051162 68051162 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001str.3 DYRK2_uc001sts.... Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EHBP1 p.I912T 2 63215087 63215087 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EIF2AK1 p.Y376C 7 6078295 6078295 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EIF3A p.G1167S 10 120801533 120801533 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EIF3A p.M374V 10 120824913 120824913 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EIF4A2 p.N30N 3 186502364 186502364 SNUC5_LARGE_INT... 37 Silent SNP T C uc003fqu.2 EIF4A2_uc003fqs... Hybrid_Cap... view
EIF4A2 3 186505384 186505384 SNUC5_LARGE_INT... 37 Intron SNP T C uc003fqu.2 EIF4A2_uc003fqs... Hybrid_Cap... view
EIF4G1 p.P442fs 3 184039677 184039678 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - A uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap...
ELF4 p.H47Y X 129208664 129208664 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc004evd.3 ELF4_uc004eve.3... Hybrid_Cap... view
ELK1 X 47500596 47500596 SNUC5_LARGE_INT... 37 Intron Del G - uc004dik.3 ELK1_uc010nhv.2... Hybrid_Cap...
EML4 p.W396* 2 42515432 42515432 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP G A uc002rsi.2 EML4_uc010fap.2... Hybrid_Cap... view
EP300 p.S1095fs 22 41553195 41553196 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - C uc003azl.3 Hybrid_Cap...
EP300 p.C1438Y 22 41566436 41566436 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc003azl.3 Hybrid_Cap... view
EPHA4 2 222290624 222290624 SNUC5_LARGE_INT... 37 3'UTR Del T - uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA4 p.K397E 2 222347201 222347201 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA6 p.R275M 3 96706547 96706547 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G T uc010how.1 EPHA6_uc003drp.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 SNUC5_LARGE_INT... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB2 p.V973M 1 23240019 23240019 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
EPHB2 1 23240094 23240094 SNUC5_LARGE_INT... 37 Intron SNP C T uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
ERBB3 p.I65M 12 56477647 56477647 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T G uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB3 12 56492196 56492198 SNUC5_LARGE_INT... 37 Intron Del AAA - rs77351535 uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap...
ERBB3 p.R980_splice 12 56493620 56493621 SNUC5_LARGE_INT... 37 Splice_Site_Del Del AG - uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap...
ERLIN2 p.S61fs 8 37597958 37597959 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del TG - uc003xke.3 ERLIN2_uc003xkc... Hybrid_Cap...
ERN2 16 23712237 23712237 SNUC5_LARGE_INT... 37 Intron SNP G A uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
ETV1 7 14026077 14026077 SNUC5_LARGE_INT... 37 Intron SNP T C uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap... view
ETV1 7 14028708 14028708 SNUC5_LARGE_INT... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV6 p.G375R 12 12037492 12037492 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001qzz.2 ETV6_uc001raa.1... Hybrid_Cap... view
F8 p.T1983A X 154132232 154132232 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc004fmt.2 F8_uc010nvi.1_M... Hybrid_Cap... view
F8 p.N1460fs X 154157686 154157686 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del T - uc004fmt.2 Hybrid_Cap...
F8 X 154250906 154250906 SNUC5_LARGE_INT... 37 5'UTR Del A - uc004fmt.2 F8_uc011mzx.1_I... Hybrid_Cap...
FANCC p.I89fs 9 98003011 98003011 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del T - uc004avh.2 FANCC_uc004avi.... Hybrid_Cap...
FANCI p.960_961insQW 15 89843605 89843606 SNUC5_LARGE_INT... 37 In_Frame_Ins Ins - GGCAAT uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap...
FASN p.A1102S 17 80045049 80045049 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C A uc002kdu.2 FASN_uc002kdw.1... Hybrid_Cap... view
FBN2 p.V698fs 5 127710323 127710324 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del AC - uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap...
FBXW7 p.G667fs 4 153244156 153244156 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del C - uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap...
FCGR2B 1 161647519 161647519 SNUC5_LARGE_INT... 37 3'UTR SNP A G uc001gaz.1 FCGR2B_uc001gay... Hybrid_Cap... view
FER 5 108133880 108133880 SNUC5_LARGE_INT... 37 5'UTR SNP C T uc003kop.1 FER_uc011cve.1_... Hybrid_Cap... view
FGFR3 p.S402fs 4 1806180 1806181 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - C uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FIP1L1 4 54245170 54245170 SNUC5_LARGE_INT... 37 Intron Del T - uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap...
FLI1 11 128638217 128638217 SNUC5_LARGE_INT... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNC p.Y1129H 7 128484904 128484904 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 SNUC5_LARGE_INT... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 SNUC5_LARGE_INT... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FNBP1 9 132658079 132658080 SNUC5_LARGE_INT... 37 Intron Del TT - uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap...
FNBP1 p.Q526H 9 132662353 132662353 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C G uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap... view
FOXE1 p.P121S 9 100616557 100616557 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc004axu.2 Hybrid_Cap... view
FOXO3 p.F194L 6 108882991 108882991 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003psk.2 FOXO3_uc003psn.... Hybrid_Cap... view
FRS2 p.L386R 12 69968365 69968365 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T G uc001suy.2 FRS2_uc001suz.2... Hybrid_Cap... view
FZD1 p.E566V 7 90895892 90895892 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A T uc003ula.2 Hybrid_Cap... view
GLG1 p.D206D 16 74537585 74537585 SNUC5_LARGE_INT... 37 Silent SNP A G uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GLI3 p.Q1148H 7 42005227 42005227 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C A uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GLYATL2 p.M149L 11 58604519 58604519 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T A uc001nnd.3 GLYATL2_uc009ym... Hybrid_Cap... view
GNAS p.T134I 20 57415562 57415562 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002xzt.2 GNASAS_uc002xzs... Hybrid_Cap... view
GPR112 p.E753K X 135428122 135428122 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GRAMD1B 11 123489995 123489995 SNUC5_LARGE_INT... 37 Intron SNP C A uc001pyw.2 GRAMD1B_uc001py... Hybrid_Cap... view
GRIA3 X 122318386 122318387 SNUC5_LARGE_INT... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIK1 p.V46L 21 31066365 31066365 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C G uc011acs.1 GRIK1_uc002ynn.... Hybrid_Cap... view
GRIN2A p.A1068V 16 9858198 9858198 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GRK1 p.W177* 13 114322231 114322231 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP G A uc010tkf.1 Hybrid_Cap... view
GSK3A 19 42744343 42744343 SNUC5_LARGE_INT... 37 Intron SNP A T uc002otb.1 GSK3A_uc002ota.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SNUC5_LARGE_INT... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 5 82937252 82937252 SNUC5_LARGE_INT... 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HEPH p.D571H X 65417725 65417725 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G C rs3747359 uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HERC2 p.V4503A 15 28361912 28361912 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc001zbj.2 HERC2_uc001zbi.... Hybrid_Cap... view
HERC2 p.L1186S 15 28491047 28491047 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc001zbj.2 Hybrid_Cap... view
HIF1A 14 62213929 62213930 SNUC5_LARGE_INT... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK1 p.P885S 1 114511152 114511152 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc001eem.2 HIPK1_uc001eel.... Hybrid_Cap... view
HIPK4 p.A162T 19 40890028 40890028 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002onp.2 Hybrid_Cap... view
HNF1A p.P289fs 12 121432118 121432118 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del C - uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSPA4 p.M593T 5 132431917 132431917 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003kyj.2 Hybrid_Cap... view
IFNA2 p.L153P 9 21384871 21384871 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003zpb.2 Hybrid_Cap... view
IKBKB 8 42176976 42176976 SNUC5_LARGE_INT... 37 Intron Del T - uc003xow.1 IKBKB_uc010lxh.... Hybrid_Cap...
IKBKB p.A710T 8 42186655 42186655 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A rs34309584 uc003xow.1 IKBKB_uc010lxj.... Hybrid_Cap... view
IKZF1 p.P233L 7 50455151 50455151 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc003tow.3 IKZF1_uc003tox.... Hybrid_Cap... view
IL1R1 p.Y279N 2 102788374 102788374 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T A uc002tbq.2 IL1R1_uc010fix.... Hybrid_Cap... view
INHBA 7 41729122 41729122 SNUC5_LARGE_INT... 37 3'UTR Del T - uc003thq.2 INHBA_uc003thr.... Hybrid_Cap...
INHBA 7 41740068 41740068 SNUC5_LARGE_INT... 37 5'UTR Del T - uc003thq.2 LOC285954_uc003... Hybrid_Cap...
INPP5D p.A416fs 2 234072358 234072359 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - C uc010zmo.1 INPP5D_uc010zmp... Hybrid_Cap...
INSR p.V631L 19 7163181 7163181 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C G uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
IRAK3 p.K199R 12 66610958 66610958 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc001sth.2 IRAK3_uc010ssy.... Hybrid_Cap... view
IRF4 6 402067 402067 SNUC5_LARGE_INT... 37 Intron SNP G A uc003msz.3 IRF4_uc010jne.1... Hybrid_Cap... view
IRF4 6 407630 407635 SNUC5_LARGE_INT... 37 3'UTR Del TTTTT... - uc003msz.3 IRF4_uc003mta.3... Hybrid_Cap...
ITGA10 1 145528701 145528701 SNUC5_LARGE_INT... 37 Intron SNP C A uc001eoa.2 NBPF10_uc001emp... Hybrid_Cap... view
ITGA7 p.Y211H 12 56094722 56094722 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc001shh.2 ITGA7_uc001shg.... Hybrid_Cap... view
ITGB4 p.T922S 17 73738552 73738552 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A T uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITGB6 p.T128S 2 161052091 161052091 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T A uc002ubh.2 ITGB6_uc010fow.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 SNUC5_LARGE_INT... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG1 p.C540Y 20 10628709 10628709 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002wnw.2 JAG1_uc010gcd.1... Hybrid_Cap... view
JAK3 p.V1016D 19 17941361 17941361 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A T uc002nhn.3 JAK3_uc010ebh.2... Hybrid_Cap... view
JARID2 p.E187A 6 15468839 15468839 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A C uc003nbj.2 JARID2_uc011diu... Hybrid_Cap... view
JUN 1 59247653 59247653 SNUC5_LARGE_INT... 37 3'UTR Del T - uc001cze.2 Hybrid_Cap...
JUNB p.G114fs 19 12902925 12902925 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del G - uc002mvc.2 JUNB_uc002mvb.2... Hybrid_Cap...
KALRN p.K130R 3 123983476 123983476 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KDM5A p.K1199fs 12 416952 416953 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - T uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap...
KIAA0802 p.E283K 18 8783957 8783957 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc002knr.2 KIAA0802_uc002k... Hybrid_Cap... view
KIAA1549 p.G1834R 7 138524976 138524976 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc011kql.1 KIAA1549_uc011k... Hybrid_Cap... view
KIAA1804 p.R553* 1 233507888 233507888 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP C T uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
KLK7 19 51480672 51480675 SNUC5_LARGE_INT... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.A326_splice 18 7044720 7044720 SNUC5_LARGE_INT... 37 Splice_Site_SNP SNP C T uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMA1 p.A912T 18 7017351 7017351 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LATS1 p.P237fs 6 150005515 150005515 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del G - rs56149740 uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap...
LATS2 13 21620223 21620223 SNUC5_LARGE_INT... 37 5'UTR Del A - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LCK p.Q328R 1 32745200 32745200 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc001buz.2 LCK_uc001bux.2_... Hybrid_Cap... view
LIF p.A59V 22 30640766 30640766 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc003agz.2 LIF_uc011aks.1_... Hybrid_Cap... view
LIFR p.S376fs 5 38506172 38506172 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del A - uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap...
LIMK1 p.R389* 7 73523247 73523247 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP C T uc003uaa.1 RFC2_uc011kfa.1... Hybrid_Cap... view
LOC100130776 12 58121663 58121663 SNUC5_LARGE_INT... 37 3'UTR SNP C T uc001sps.3 AGAP2_uc001spo.... Hybrid_Cap... view
LOC100130776 12 58122001 58122001 SNUC5_LARGE_INT... 37 3'UTR Del G - uc001sps.3 AGAP2_uc001spo.... Hybrid_Cap...
LRGUK p.K365E 7 133861801 133861801 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003vrm.1 Hybrid_Cap... view
LRP1 p.G4479R 12 57605985 57605985 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001snd.2 Hybrid_Cap... view
LRP1B p.R2025C 2 141460073 141460073 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc002tvj.1 Hybrid_Cap... view
LRP1B p.D1606E 2 141607792 141607792 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRRK2 p.N363H 12 40645162 40645162 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A C uc001rmg.3 LRRK2_uc001rmh.... Hybrid_Cap... view
LRRK2 12 40760743 40760743 SNUC5_LARGE_INT... 37 Intron Del T - uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap...
MAF 16 79628537 79628539 SNUC5_LARGE_INT... 37 Intron Del TTT - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SNUC5_LARGE_INT... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 SNUC5_LARGE_INT... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP2K2 p.L105F 19 4110644 4110644 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc002lzk.2 Hybrid_Cap... view
MAP2K4 p.L265R 17 12016625 12016625 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T G uc002gnk.2 MAP2K4_uc002gnj... Hybrid_Cap... view
MAP2K5 15 67951229 67951229 SNUC5_LARGE_INT... 37 Intron Del A - uc002aqu.2 MAP2K5_uc002aqt... Hybrid_Cap...
MAP2K7 p.A229V 19 7975875 7975875 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002miv.2 MAP2K7_uc010xka... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 SNUC5_LARGE_INT... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SNUC5_LARGE_INT... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K2 2 128065065 128065067 SNUC5_LARGE_INT... 37 3'UTR Del TCT - uc002toj.1 Hybrid_Cap...
MAP3K4 p.K991_splice 6 161510505 161510505 SNUC5_LARGE_INT... 37 Splice_Site_SNP SNP T C uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAP3K5 6 136878801 136878801 SNUC5_LARGE_INT... 37 3'UTR SNP C T uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap... view
MAP3K7 6 91226170 91226170 SNUC5_LARGE_INT... 37 3'UTR Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAP4K3 p.V830M 2 39481644 39481644 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002rro.2 MAP4K3_uc002rrp... Hybrid_Cap... view
MAP4K4 2 102507895 102507895 SNUC5_LARGE_INT... 37 3'UTR Del T - uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap...
MARK1 1 220754494 220754494 SNUC5_LARGE_INT... 37 Intron SNP G A uc009xdw.2 MARK1_uc001hml.... Hybrid_Cap... view
MARK2 p.L546fs 11 63671581 63671582 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - C uc001nxw.2 MARK2_uc001nxx.... Hybrid_Cap...
MARK2 p.T596A 11 63672367 63672367 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc001nxw.2 MARK2_uc001nxx.... Hybrid_Cap... view
MAST4 p.R36R 5 66350232 66350232 SNUC5_LARGE_INT... 37 Silent SNP T A uc003jut.1 MAST4_uc003jus.... Hybrid_Cap... view
MAST4 p.S1871del 5 66461181 66461183 SNUC5_LARGE_INT... 37 In_Frame_Del Del CTC - uc003jut.1 MAST4_uc003juw.... Hybrid_Cap...
MCM3AP 21 47686144 47686144 SNUC5_LARGE_INT... 37 Intron SNP T G uc002zir.1 MCM3AP_uc002ziq... Hybrid_Cap... view
MDM2 p.D52N 12 69207388 69207388 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001sui.2 MDM2_uc009zri.2... Hybrid_Cap... view
MECOM p.L391I 3 168834489 168834489 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G T uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MED13L 12 116399010 116399010 SNUC5_LARGE_INT... 37 3'UTR SNP T C uc001tvw.2 Hybrid_Cap... view
MED13L p.G1619W 12 116421022 116421022 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C A uc001tvw.2 Hybrid_Cap... view
MELK p.D285E 9 36643014 36643014 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T A uc003zzn.2 MELK_uc011lpm.1... Hybrid_Cap... view
MEN1 p.F421L 11 64572610 64572610 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc001obj.2 MAP4K2_uc001obh... Hybrid_Cap... view
MEN1 p.K156I 11 64575565 64575565 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T A uc001obj.2 MEN1_uc001obk.2... Hybrid_Cap... view
MET p.S1159L 7 116418911 116418911 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap... view
MGA p.R702K 15 41991274 41991274 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc010ucy.1 MGA_uc001zog.1_... Hybrid_Cap... view
MITF p.R341C 3 70008431 70008431 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc003dnz.2 MITF_uc011bgb.1... Hybrid_Cap... view
MLL3 p.T1904A 7 151879235 151879235 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.R1108_splice 7 151921098 151921098 SNUC5_LARGE_INT... 37 Splice_Site_SNP SNP A G uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.W491R 7 151949174 151949174 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003wla.2 Hybrid_Cap... view
MLLT4 p.L1011fs 6 168325729 168325729 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del A - uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap...
MLLT4 p.S1509C 6 168352583 168352583 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A T uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap... view
MLLT6 17 36881872 36881873 SNUC5_LARGE_INT... 37 3'UTR Ins - C rs61224123 uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MSN p.S527T X 64959600 64959600 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T A uc004dwf.2 Hybrid_Cap... view
MTMR11 1 149900796 149900796 SNUC5_LARGE_INT... 37 3'UTR Del A - uc001etl.3 SF3B4_uc001eti.... Hybrid_Cap...
MTMR11 1 149902648 149902648 SNUC5_LARGE_INT... 37 Intron Del A - uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap...
MTOR p.R1896* 1 11189823 11189823 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP G A uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MYC p.N323S 8 128752807 128752807 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003ysi.2 Hybrid_Cap... view
MYC 8 128753244 128753244 SNUC5_LARGE_INT... 37 3'UTR SNP C G uc003ysi.2 Hybrid_Cap... view
MYCL1 p.E263* 1 40363352 40363352 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP C A uc001cer.1 MYCL1_uc001ces.... Hybrid_Cap... view
MYH1 p.R1845C 17 10397924 10397924 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc002gmo.2 Hybrid_Cap... view
MYH9 p.L1479M 22 36685253 36685253 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G T uc003apg.2 Hybrid_Cap... view
MYH9 p.E1142G 22 36691611 36691611 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003apg.2 Hybrid_Cap... view
MYLK 3 123332876 123332876 SNUC5_LARGE_INT... 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.L1767P 3 123339122 123339122 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 SNUC5_LARGE_INT... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYLK p.G178* 3 123457800 123457800 SNUC5_LARGE_INT... 37 Nonsense_Mutation SNP C A uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap... view
MYLK2 p.K109R 20 30408202 30408202 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc002wwq.2 Hybrid_Cap... view
MYLK2 p.A532T 20 30419823 30419823 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc002wwq.2 MYLK2_uc002wws.... Hybrid_Cap... view
MYO3A p.V856M 10 26436419 26436419 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap... view
MYO3A p.P1189fs 10 26462760 26462760 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del A - uc001isn.2 MYO3A_uc009xkp.... Hybrid_Cap...
MYST4 p.R954_splice 10 76780883 76780883 SNUC5_LARGE_INT... 37 Splice_Site_SNP SNP G A uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap... view
NAV3 p.P737A 12 78444620 78444620 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C G uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NAV3 12 78604349 78604349 SNUC5_LARGE_INT... 37 3'UTR SNP A G uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SNUC5_LARGE_INT... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SNUC5_LARGE_INT... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SNUC5_LARGE_INT... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK4 p.K584fs 3 52780152 52780152 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del T - uc003dfq.3 NEK4_uc011bej.1... Hybrid_Cap...
NEK9 14 75573065 75573072 SNUC5_LARGE_INT... 37 Intron Del AAAAA... - uc001xrl.2 NEK9_uc001xrk.2... Hybrid_Cap...
NF2 22 30091075 30091075 SNUC5_LARGE_INT... 37 3'UTR SNP C T uc003age.3 NF2_uc003agf.3_... Hybrid_Cap... view
NFKB1 p.V678I 4 103528384 103528384 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap... view
NFKBIA 14 35871169 35871169 SNUC5_LARGE_INT... 37 3'UTR Del T - uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap...
NIPBL p.K601fs 5 36985083 36985083 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del A - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NIPBL p.Y1328H 5 37006585 37006585 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NIPBL 5 37051862 37051862 SNUC5_LARGE_INT... 37 Intron Del T - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NIPBL 5 37064112 37064112 SNUC5_LARGE_INT... 37 Intron SNP A C uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NLRP1 17 5405054 5405054 SNUC5_LARGE_INT... 37 3'UTR SNP C T uc002gcg.1 LOC728392_uc010... Hybrid_Cap... view
NLRP3 p.R327W 1 247587724 247587724 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOTCH2 p.M883V 1 120491142 120491142 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc001eik.2 NOTCH2_uc001eil... Hybrid_Cap... view
NOTCH3 p.P609L 19 15297930 15297930 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc002nan.2 NOTCH3_uc002nao... Hybrid_Cap... view
NOTCH4 p.R1828L 6 32163743 32163743 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C A uc003obb.2 GPSM3_uc003oaz.... Hybrid_Cap... view
NPAT 11 108040928 108040929 SNUC5_LARGE_INT... 37 Intron Ins - A uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap...
NPM1 5 170837734 170837734 SNUC5_LARGE_INT... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 SNUC5_LARGE_INT... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 SNUC5_LARGE_INT... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SNUC5_LARGE_INT... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK3 p.L56fs 15 88799219 88799219 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del G - uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap...
NUAK2 p.G500A 1 205272966 205272966 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C G uc001hce.2 Hybrid_Cap... view
NUMA1 p.P1932fs 11 71716313 71716313 SNUC5_LARGE_INT... 37 Frame_Shift_Del Del G - uc001orl.1 IL18BP_uc009ysu... Hybrid_Cap...
NYNRIN p.T1762P 14 24886239 24886239 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A C uc001wpf.3 Hybrid_Cap... view
NYNRIN p.K1894R 14 24886636 24886636 SNUC5_LARGE_INT... 37 Missense_Mutation SNP A G uc001wpf.3 Hybrid_Cap... view
OBSCN p.V569A 1 228402677 228402677 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.L5536P 1 228524774 228524774 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T C uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.V5866M 1 228528488 228528488 SNUC5_LARGE_INT... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
ODZ1 X 124097629 124097630 SNUC5_LARGE_INT... 37 5'UTR Ins - A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap...
OMD 9 95179845 95179845 SNUC5_LARGE_INT... 37 5'UTR Del T - uc004asd.3 CENPP_uc004arz.... Hybrid_Cap...
ORMDL3 p.V93fs 17 38079413 38079414 SNUC5_LARGE_INT... 37 Frame_Shift_Ins Ins - C uc002htj.1 ORMDL3_uc002hti... Hybrid_Cap...
P4HB p.K326T 17 79804384 79804384 SNUC5_LARGE_INT... 37 Missense_Mutation SNP T G uc002kbn.1 P4HB_uc002kbl.1... Hybrid_Cap... view
PAX3 2 223066017 223066018 SNUC5_LARGE_INT... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 p.S454N 2 223066722 223066722 SNUC5_LARGE_INT... 37 Missense_Mutation SNP C T uc002vmt.1 PAX3_uc002vmy.1...