Annotation Summary for Cell Line: SW48  

Cell line primary name: SW48
Cell line aliases:
Gender: F
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: NIECE_p_NCLE_RNA3_HG-U133_Plus_2_G09_296150
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_C02_578346
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SW48

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 SW48_LARGE_INTE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
AATK p.E942K 17 79094912 79094912 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc010dia.2 AATK_uc010dhz.2... Hybrid_Cap... view
AATK p.G240D 17 79100263 79100263 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc010dia.2 MIR657_hsa-mir-... Hybrid_Cap... view
ABCC3 17 48740896 48740896 SW48_LARGE_INTE... 37 Intron SNP C G uc002isl.2 ABCC3_uc002isk.... Hybrid_Cap... view
ABI1 10 27037488 27037488 SW48_LARGE_INTE... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL2 1 179086420 179086420 SW48_LARGE_INTE... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ABL2 p.V345A 1 179089336 179089336 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ACACA 17 35578553 35578553 SW48_LARGE_INTE... 37 Intron Del A - uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap...
ACVR1B p.R485* 12 52385715 52385715 SW48_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc010snn.1 ACVR1B_uc001rzm... Hybrid_Cap... view
ACVR1B 12 52387898 52387898 SW48_LARGE_INTE... 37 3'UTR SNP C T uc010snn.1 ACVR1B_uc001rzn... Hybrid_Cap... view
ACVR1C 2 158390344 158390344 SW48_LARGE_INTE... 37 3'UTR Del A - uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap...
ACVR2A p.K435fs 2 148683686 148683686 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ACVR2B 3 38519806 38519806 SW48_LARGE_INTE... 37 Intron SNP C T uc003cif.2 ACVR2B_uc003cig... Hybrid_Cap... view
ADAM17 2 9630245 9630245 SW48_LARGE_INTE... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM17 p.I282F 2 9661445 9661445 SW48_LARGE_INTE... 37 Missense_Mutation SNP T A uc002qzu.2 ADAM17_uc010ewy... Hybrid_Cap... view
ADAM18 p.P698fs 8 39581343 39581344 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc003xni.2 ADAM18_uc010lww... Hybrid_Cap...
ADAM28 8 24211994 24211997 SW48_LARGE_INTE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 p.Q386fs 8 39068767 39068767 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap...
ADAMTS18 p.F695fs 16 77356311 77356311 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap...
ADAMTS2 p.G273D 5 178634587 178634587 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003mjw.2 ADAMTS2_uc011dg... Hybrid_Cap... view
ADCK4 p.S130F 19 41211331 41211331 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002oor.2 ADCK4_uc002ooq.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SW48_LARGE_INTE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 14 33201983 33201984 SW48_LARGE_INTE... 37 Intron Del TT - uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap...
AKAP9 7 91625184 91625184 SW48_LARGE_INTE... 37 Intron Del T - uc003ulg.2 AKAP9_uc003uld.... Hybrid_Cap...
AKAP9 7 91670249 91670249 SW48_LARGE_INTE... 37 Intron Del T - uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 7 91670319 91670322 SW48_LARGE_INTE... 37 Intron Del TTTT - uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.M3743fs 7 91732039 91732039 SW48_LARGE_INTE... 37 Frame_Shift_Del Del G - uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap...
AKT2 p.R251W 19 40743956 40743956 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002onf.2 AKT2_uc010egs.2... Hybrid_Cap... view
AKT3 p.R465Q 1 243668597 243668597 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc001iab.1 AKT3_uc001hzz.1... Hybrid_Cap... view
ALK p.P1543S 2 29416326 29416326 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002rmy.2 ALK_uc010ymo.1_... Hybrid_Cap... view
ALPK2 p.EDTST1006del 18 56204388 56204402 SW48_LARGE_INTE... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALS2 p.R547K 2 202619226 202619226 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
APBB1IP 10 26830671 26830671 SW48_LARGE_INTE... 37 Intron Del T - uc001iss.2 APBB1IP_uc009xk... Hybrid_Cap...
APC p.R2714C 5 112179431 112179431 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
AR p.A52T X 66765142 66765142 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc004dwu.1 AR_uc011mpd.1_M... Hybrid_Cap... view
AR X 66943842 66943842 SW48_LARGE_INTE... 37 3'UTR Del T - uc004dwu.1 AR_uc004dwv.1_3... Hybrid_Cap...
ARFGEF1 8 68117065 68117066 SW48_LARGE_INTE... 37 Intron Ins - C uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap...
ARFGEF1 p.P1552fs 8 68128855 68128856 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - G uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap...
ARHGEF12 11 120355934 120355934 SW48_LARGE_INTE... 37 3'UTR SNP C A uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ARID1A p.P1562fs 1 27101402 27101402 SW48_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap...
ARID1A 1 27107264 27107264 SW48_LARGE_INTE... 37 3'UTR Del C - uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ARNT p.F787L 1 150784508 150784508 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc001evr.1 ARNT_uc010pck.1... Hybrid_Cap... view
ARNT p.S207N 1 150808836 150808836 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc001evr.1 ARNT_uc001evs.1... Hybrid_Cap... view
ATP10A p.Q920H 15 25947063 25947063 SW48_LARGE_INTE... 37 Missense_Mutation SNP C A uc010ayu.2 Hybrid_Cap... view
ATP10A p.R850H 15 25953149 25953149 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc010ayu.2 Hybrid_Cap... view
ATP13A5 p.S1008N 3 193007674 193007674 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc011bsq.1 Hybrid_Cap... view
ATP8B1 p.N205fs 18 55365040 55365040 SW48_LARGE_INTE... 37 Frame_Shift_Del Del T - uc002lgw.2 Hybrid_Cap...
ATP8B1 p.Q36* 18 55398934 55398934 SW48_LARGE_INTE... 37 Nonsense_Mutation SNP G A uc002lgw.2 Hybrid_Cap... view
ATR p.I2376V 3 142180848 142180848 SW48_LARGE_INTE... 37 Missense_Mutation SNP T C uc003eux.3 ATR_uc003euy.1_... Hybrid_Cap... view
ATRX p.E886fs X 76938089 76938090 SW48_LARGE_INTE... 37 Frame_Shift_Del Del TC - uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap...
AURKB p.R285H 17 8108544 8108544 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002gkn.2 AURKB_uc010cnu.... Hybrid_Cap... view
AURKC 19 57742494 57742507 SW48_LARGE_INTE... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAI1 p.R804G 8 143569826 143569826 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc003ywm.2 Hybrid_Cap... view
BAT3 p.G144D 6 31616734 31616734 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003nvg.3 BAT3_uc003nvf.3... Hybrid_Cap... view
BCL3 19 45262965 45262967 SW48_LARGE_INTE... 37 3'UTR Del CCC - uc010xxe.1 Hybrid_Cap...
BCL6 p.S512N 3 187446153 187446153 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003frp.3 BCL6_uc011bsf.1... Hybrid_Cap... view
BLNK 10 97951715 97951715 SW48_LARGE_INTE... 37 3'UTR Del T - uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap...
BMP2K p.P384H 4 79786794 79786794 SW48_LARGE_INTE... 37 Missense_Mutation SNP C A uc003hlk.2 BMP2K_uc010ijl.... Hybrid_Cap... view
BMP2K p.QQQQ482del 4 79792137 79792148 SW48_LARGE_INTE... 37 In_Frame_Del Del CAGCA... - rs17855588 uc003hlk.2 BMP2K_uc010ijl.... Hybrid_Cap...
BRCA2 p.A1689fs 13 32913559 32913559 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc001uub.1 Hybrid_Cap...
BRCA2 p.Q1782fs 13 32913837 32913837 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc001uub.1 Hybrid_Cap...
BRD3 p.P24fs 9 136918529 136918529 SW48_LARGE_INTE... 37 Frame_Shift_Del Del G - uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap...
BRD4 p.S563fs 19 15366939 15366939 SW48_LARGE_INTE... 37 Frame_Shift_Del Del T - uc002nar.2 BRD4_uc002nas.2... Hybrid_Cap...
BUB1 2 111395467 111395468 SW48_LARGE_INTE... 37 3'UTR Ins - A uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap...
C1ORF86 1 2116337 2116337 SW48_LARGE_INTE... 37 3'UTR Del C - uc001aix.1 PRKCZ_uc001aiq.... Hybrid_Cap...
CABC1 p.A155T 1 227152986 227152986 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001hqm.1 CABC1_uc010pvp.... Hybrid_Cap... view
CACNA1F p.I743T X 49079188 49079188 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CACNB2 10 18828721 18828722 SW48_LARGE_INTE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMKK2 12 121681751 121681751 SW48_LARGE_INTE... 37 Intron SNP C T uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CAMKK2 12 121681868 121681868 SW48_LARGE_INTE... 37 Intron SNP C T uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CARD10 22 37892665 37892665 SW48_LARGE_INTE... 37 Intron SNP C T uc003asx.1 CARD10_uc003ast... Hybrid_Cap... view
CARD11 p.A968T 7 2953038 2953038 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003smv.2 Hybrid_Cap... view
CARD11 7 2998226 2998226 SW48_LARGE_INTE... 37 5'UTR SNP G A uc003smv.2 Hybrid_Cap... view
CARD9 p.R317W 9 139264748 139264748 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc004chg.3 CARD9_uc011mdw.... Hybrid_Cap... view
CASC5 p.I170fs 15 40912892 40912893 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap...
CASK p.R345_splice X 41469280 41469280 SW48_LARGE_INTE... 37 Splice_Site_SNP SNP T C uc004dfl.3 CASK_uc004dfk.3... Hybrid_Cap... view
CASP1 p.P290T 11 104899989 104899989 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CASP7 10 115489357 115489357 SW48_LARGE_INTE... 37 3'UTR Del T - uc001lao.2 CASP7_uc001lam.... Hybrid_Cap...
CASP8 p.M205I 2 202137387 202137387 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002uxt.1 CASP8_uc010ftc.... Hybrid_Cap... view
CASP8 p.C371Y 2 202149671 202149671 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002uxt.1 CASP8_uc002uxp.... Hybrid_Cap... view
CATSPERB p.A1061V 14 92047402 92047402 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001xzs.1 CATSPERB_uc010a... Hybrid_Cap... view
CCNA1 p.R354Q 13 37014283 37014283 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001uvr.3 CCNA1_uc010teo.... Hybrid_Cap... view
CCND2 12 4409271 4409271 SW48_LARGE_INTE... 37 3'UTR Del A - uc001qmo.2 Hybrid_Cap...
CCNT1 12 49086775 49086775 SW48_LARGE_INTE... 37 3'UTR Del T - uc001rse.1 LOC144438_uc001... Hybrid_Cap...
CCR4 3 32996129 32996129 SW48_LARGE_INTE... 37 3'UTR SNP C T uc003cfg.1 Hybrid_Cap... view
CCR6 6 167416821 167416821 SW48_LARGE_INTE... 37 5'UTR Del T - uc003qvl.2 FGFR1OP_uc011eg... Hybrid_Cap...
CDC42 1 22404921 22404921 SW48_LARGE_INTE... 37 Splice_Site_SNP SNP G A uc010odr.1 CDC42_uc009vqg.... Hybrid_Cap... view
CDH1 16 68867505 68867505 SW48_LARGE_INTE... 37 3'UTR Del A - uc002ewg.1 CDH1_uc010vlj.1... Hybrid_Cap...
CDH11 p.L782L 16 64981553 64981553 SW48_LARGE_INTE... 37 Silent SNP G A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH11 16 64981424 64981425 SW48_LARGE_INTE... 37 3'UTR Ins - A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap...
CDH3 p.R288W 16 68713872 68713872 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK1 10 62547653 62547653 SW48_LARGE_INTE... 37 Intron SNP T C uc001jld.2 CDK1_uc010qii.1... Hybrid_Cap... view
CDK10 16 89760543 89760543 SW48_LARGE_INTE... 37 Intron SNP G T uc010cio.2 CDK10_uc010cip.... Hybrid_Cap... view
CDK11B p.N37fs 1 1654148 1654148 SW48_LARGE_INTE... 37 Frame_Shift_Del Del T - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK11B 1 1654066 1654068 SW48_LARGE_INTE... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK18 1 205495890 205495891 SW48_LARGE_INTE... 37 Intron Del CT - uc001hcr.2 CDK18_uc010pri.... Hybrid_Cap...
CDK6 7 92462639 92462639 SW48_LARGE_INTE... 37 5'UTR SNP C T uc011khw.1 CDK6_uc010lez.2... Hybrid_Cap... view
CDKL4 p.V106I 2 39440588 39440588 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc010fal.1 CDKL4_uc002rrm.... Hybrid_Cap... view
CDX2 p.V306fs 13 28537278 28537278 SW48_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001urv.2 Hybrid_Cap...
CHD1 5 98208016 98208017 SW48_LARGE_INTE... 37 Intron Ins - T uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD5 p.G976fs 1 6194862 6194863 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - C uc001amb.1 CHD5_uc001ama.1... Hybrid_Cap...
CHD8 p.R1164C 14 21869077 21869077 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD9 p.E1749_splice 16 53321927 53321927 SW48_LARGE_INTE... 37 Splice_Site_SNP SNP G A uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CIITA p.A888V 16 11002888 11002888 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CIT p.A1144V 12 120168355 120168355 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SW48_LARGE_INTE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.T1031I 22 19197993 19197993 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN6 3 1339681 1339686 SW48_LARGE_INTE... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
COL14A1 p.R226Q 8 121210134 121210134 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL18A1 p.G586D 21 46888561 46888561 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
COL1A1 p.R1356H 17 48263320 48263320 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002iqm.2 Hybrid_Cap... view
COL3A1 2 189876526 189876526 SW48_LARGE_INTE... 37 3'UTR Del A - uc002uqj.1 Hybrid_Cap...
CPAMD8 p.C1360Y 19 17017851 17017851 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002nfb.2 Hybrid_Cap... view
CPAMD8 p.A1653T 19 17010318 17010318 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002nfb.2 CPAMD8_uc010xpj... Hybrid_Cap... view
CPNE5 p.V536M 6 36710221 36710221 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003omr.1 CPNE5_uc003omp.... Hybrid_Cap... view
CPNE5 p.P399S 6 36714178 36714178 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003omr.1 CPNE5_uc003omp.... Hybrid_Cap... view
CPNE5 6 36807156 36807156 SW48_LARGE_INTE... 37 5'UTR SNP C T uc003omr.1 Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SW48_LARGE_INTE... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.P1946fs 16 3779211 3779211 SW48_LARGE_INTE... 37 Frame_Shift_Del Del G - uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
CREBBP p.I1084fs 16 3817721 3817721 SW48_LARGE_INTE... 37 Frame_Shift_Del Del T - uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
CSMD3 p.W3459R 8 113256650 113256650 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CTBP1 4 1235269 1235269 SW48_LARGE_INTE... 37 Intron SNP G A uc003gcv.1 CTBP1_uc003gcu.... Hybrid_Cap... view
CTNNB1 p.S33Y 3 41266101 41266101 SW48_LARGE_INTE... 37 Missense_Mutation SNP C A uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CTSL1 p.V281A 9 90345353 90345353 SW48_LARGE_INTE... 37 Missense_Mutation SNP T C uc004aph.2 CTSL1_uc004api.... Hybrid_Cap... view
CTSS 1 150722459 150722459 SW48_LARGE_INTE... 37 Intron SNP T C uc001evn.2 CTSS_uc010pcj.1... Hybrid_Cap... view
CUBN p.P3544H 10 16870937 16870937 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T uc001ioo.2 Hybrid_Cap... view
CXCR2 p.P38L 2 218999637 218999637 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002vgz.1 CXCR2_uc002vha.... Hybrid_Cap... view
CYP17A1 p.K59fs 10 104596942 104596942 SW48_LARGE_INTE... 37 Frame_Shift_Del Del T - uc001kwg.2 Hybrid_Cap...
CYP1B1 p.P435H 2 38298193 38298193 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T rs113974874 uc002rqo.2 Hybrid_Cap... view
DAPK1 p.M1272fs 9 90321802 90321802 SW48_LARGE_INTE... 37 Frame_Shift_Del Del G - rs56169226 uc004apc.2 DAPK1_uc004apd.... Hybrid_Cap...
DBN1 5 176899218 176899218 SW48_LARGE_INTE... 37 De_novo_Start_OutOfFrame SNP C A uc003mgx.2 DBN1_uc003mgy.2... Hybrid_Cap... view
DDR1 p.I690T 6 30865209 30865209 SW48_LARGE_INTE... 37 Missense_Mutation SNP T C uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DDX10 11 108788854 108788854 SW48_LARGE_INTE... 37 Intron Del T - uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap...
DFFA 1 10521402 10521402 SW48_LARGE_INTE... 37 3'UTR SNP C T uc001arj.2 DFFA_uc001ark.2... Hybrid_Cap... view
DGKB p.G513S 7 14620562 14620562 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DGKG p.S779N 3 185867919 185867919 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003fqa.2 DGKG_uc003fqb.2... Hybrid_Cap... view
DIP2C p.A813V 10 410353 410353 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001ifp.2 DIP2C_uc009xhi.... Hybrid_Cap... view
DLC1 p.R617fs 8 12957997 12957997 SW48_LARGE_INTE... 37 Frame_Shift_Del Del G - uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap...
DNAH8 p.M3720I 6 38905997 38905997 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
DNMT3B p.R440fs 20 31384616 31384617 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - G uc002wyc.2 DNMT3B_uc010ztx... Hybrid_Cap...
DNMT3B p.D758N 20 31393184 31393184 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002wyc.2 DNMT3B_uc002wyd... Hybrid_Cap... view
DOCK3 p.T1850fs 3 51417604 51417604 SW48_LARGE_INTE... 37 Frame_Shift_Del Del C - uc011bds.1 Hybrid_Cap...
DST p.A4360V 6 56371269 56371269 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.H4235Y 6 56373506 56373506 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.Q2884R 6 56420271 56420271 SW48_LARGE_INTE... 37 Missense_Mutation SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56471255 56471255 SW48_LARGE_INTE... 37 Intron SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884884 38884884 SW48_LARGE_INTE... 37 3'UTR Del T - uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
DYRK2 p.K459N 12 68052064 68052064 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T uc001str.3 DYRK2_uc001sts.... Hybrid_Cap... view
ECM1 p.R93K 1 150482365 150482365 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 SW48_LARGE_INTE... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EDN1 p.K153fs 6 12294561 12294561 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EEF2K p.P394L 16 22269966 22269966 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002dki.2 EEF2K_uc002dkh.... Hybrid_Cap... view
EGF p.T368A 4 110882058 110882058 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EGFR p.G719S 7 55241707 55241707 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A rs28929495 uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap... view
EIF2AK1 p.E169K 7 6086667 6086667 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EIF4E p.C181Y 4 99806163 99806163 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap... view
EML4 2 42396636 42396636 SW48_LARGE_INTE... 37 5'UTR SNP G A uc002rsi.2 EML4_uc002rsh.3... Hybrid_Cap... view
EP300 p.T594M 22 41536164 41536164 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003azl.3 Hybrid_Cap... view
EP300 p.K1468fs 22 41566525 41566525 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003azl.3 Hybrid_Cap...
EPHA3 p.K364fs 3 89391024 89391024 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap...
EPHA4 2 222290624 222290624 SW48_LARGE_INTE... 37 3'UTR Del T - uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA6 p.D919N 3 97356897 97356897 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc010how.1 EPHA6_uc011bgp.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 SW48_LARGE_INTE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97467610 97467611 SW48_LARGE_INTE... 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
EPHB4 p.I610T 7 100410758 100410758 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPHB4 p.A509A 7 100414875 100414875 SW48_LARGE_INTE... 37 Silent SNP C T uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
ERC1 p.K772N 12 1299183 1299183 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERCC6 10 50713805 50713805 SW48_LARGE_INTE... 37 Intron Del T - uc001jhs.3 ERCC6_uc001jhr.... Hybrid_Cap...
ERLIN2 8 37603152 37603152 SW48_LARGE_INTE... 37 Intron SNP G A uc003xke.3 ERLIN2_uc003xkc... Hybrid_Cap... view
ETV1 7 13946042 13946042 SW48_LARGE_INTE... 37 Intron SNP C A uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap... view
ETV1 7 14028708 14028708 SW48_LARGE_INTE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV6 p.R163R 12 12022383 12022383 SW48_LARGE_INTE... 37 Silent SNP G A uc001qzz.2 ETV6_uc001raa.1... Hybrid_Cap... view
EWSR1 22 29687622 29687622 SW48_LARGE_INTE... 37 Intron Del A - uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap...
EXT1 8 118811807 118811807 SW48_LARGE_INTE... 37 3'UTR Del T - uc003yok.1 Hybrid_Cap...
F12 5 176829203 176829203 SW48_LARGE_INTE... 37 3'UTR SNP T C uc003mgo.3 PFN3_uc003mgl.2... Hybrid_Cap... view
FANCB p.K443_splice X 14868798 14868799 SW48_LARGE_INTE... 37 Splice_Site_Ins Ins - A uc004cwg.1 FANCB_uc004cwh.... Hybrid_Cap...
FANCD2 p.D1350N 3 10138019 10138019 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FANCI p.E1147K 15 89849327 89849327 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap... view
FBXW7 p.G667fs 4 153244156 153244156 SW48_LARGE_INTE... 37 Frame_Shift_Del Del C - uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap...
FGFR1 p.K502N 8 38275434 38275434 SW48_LARGE_INTE... 37 Missense_Mutation SNP C A uc003xlp.2 FGFR1_uc010lwf.... Hybrid_Cap... view
FGFR1OP p.D249G 6 167436063 167436063 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap... view
FGFR1OP 6 167453520 167453520 SW48_LARGE_INTE... 37 3'UTR Del T - uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 10 123353579 123353579 SW48_LARGE_INTE... 37 Intron SNP G A uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FGFR3 p.V89fs 4 1801138 1801138 SW48_LARGE_INTE... 37 Frame_Shift_Del Del G - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FGFR3 4 1809128 1809129 SW48_LARGE_INTE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SW48_LARGE_INTE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.V463M X 153594434 153594434 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc004fkk.2 FLNA_uc010nuu.1... Hybrid_Cap... view
FLNC p.A1569T 7 128488739 128488739 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLNC p.D1816N 7 128490904 128490904 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLT1 p.D1052N 13 28895620 28895620 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc001usb.3 FLT1_uc010aap.2... Hybrid_Cap... view
FN1 2 216244182 216244185 SW48_LARGE_INTE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FYN p.Y515C 6 111983012 111983012 SW48_LARGE_INTE... 37 Missense_Mutation SNP T C uc003pvj.2 FYN_uc003pvi.2_... Hybrid_Cap... view
GADD45A p.H131Y 1 68153350 68153350 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc001ddz.1 GADD45A_uc009wb... Hybrid_Cap... view
GCNT2 6 10557410 10557410 SW48_LARGE_INTE... 37 Intron Del C - uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap...
GLTSCR1 p.G88R 19 48182689 48182689 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap... view
GLTSCR1 p.P935fs 19 48197891 48197891 SW48_LARGE_INTE... 37 Frame_Shift_Del Del C - uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap...
GNAS p.E104K 20 57415471 57415471 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002xzt.2 GNASAS_uc002xzs... Hybrid_Cap... view
GPC3 X 132826263 132826263 SW48_LARGE_INTE... 37 Intron SNP G A uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap... view
GPR112 p.D34fs X 135404968 135404968 SW48_LARGE_INTE... 37 Frame_Shift_Del Del T - uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR112 p.T1348R X 135429908 135429908 SW48_LARGE_INTE... 37 Missense_Mutation SNP C G uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SW48_LARGE_INTE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SW48_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIA3 p.A313T X 122532511 122532511 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap... view
GUCY1A2 p.S424F 11 106681140 106681140 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SW48_LARGE_INTE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HAPLN1 5 82937252 82937252 SW48_LARGE_INTE... 37 3'UTR Del A - uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap...
HDAC1 p.S78P 1 32782335 32782335 SW48_LARGE_INTE... 37 Missense_Mutation SNP T C uc001bvb.1 HDAC1_uc010ohd.... Hybrid_Cap... view
HDAC1 p.A282T 1 32796374 32796374 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001bvb.1 HDAC1_uc010ohf.... Hybrid_Cap... view
HDAC2 p.K105fs 6 114292039 114292040 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - T uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HDAC6 p.T4I X 48661110 48661110 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc011mmi.1 HDAC6_uc004dkr.... Hybrid_Cap... view
HDAC6 p.V395I X 48673824 48673824 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap... view
HERC2 p.C4361Y 15 28369289 28369289 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc001zbj.2 Hybrid_Cap... view
HIF1A 14 62213929 62213930 SW48_LARGE_INTE... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HORMAD1 p.T110I 1 150681436 150681436 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001evk.1 HORMAD1_uc001ev... Hybrid_Cap... view
HOXC11 p.R71L 12 54367237 54367237 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T uc001sem.2 Hybrid_Cap... view
HOXD10 2 176981559 176981559 SW48_LARGE_INTE... 37 5'UTR Del A - uc002ukj.2 Hybrid_Cap...
HRAS 11 533328 533328 SW48_LARGE_INTE... 37 Intron SNP C T uc001lpv.2 HRAS_uc010qvw.1... Hybrid_Cap... view
HSP90AA1 14 102549245 102549245 SW48_LARGE_INTE... 37 Intron SNP C A uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap... view
HSPB1 7 75933523 75933523 SW48_LARGE_INTE... 37 3'UTR SNP C T uc003uew.2 HSPB1_uc010ldj.... Hybrid_Cap... view
IGF1R p.A828T 15 99465657 99465657 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A rs35224135 uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
IGFBP5 2 217541461 217541461 SW48_LARGE_INTE... 37 3'UTR Del G - uc002vgj.3 Hybrid_Cap...
IKBKB 8 42176976 42176976 SW48_LARGE_INTE... 37 Intron Del T - uc003xow.1 IKBKB_uc010lxh.... Hybrid_Cap...
IKZF1 p.G68R 7 50444272 50444272 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003tow.3 IKZF1_uc003tox.... Hybrid_Cap... view
IL1R1 p.T400P 2 102792000 102792000 SW48_LARGE_INTE... 37 Missense_Mutation SNP A C uc002tbq.2 IL1R1_uc010fix.... Hybrid_Cap... view
IL6ST p.T689I 5 55237601 55237601 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
ILK p.D113Y 11 6629705 6629705 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap... view
ILK 11 6630029 6630029 SW48_LARGE_INTE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41729122 41729122 SW48_LARGE_INTE... 37 3'UTR Del T - uc003thq.2 INHBA_uc003thr.... Hybrid_Cap...
INPP5D p.C672Y 2 234085936 234085936 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc010zmo.1 INPP5D_uc010zmp... Hybrid_Cap... view
IRS1 p.G226S 2 227662779 227662779 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002voh.3 Hybrid_Cap... view
ITGA5 p.V173G 12 54803081 54803081 SW48_LARGE_INTE... 37 Missense_Mutation SNP A C uc001sga.2 ITGA5_uc010sow.... Hybrid_Cap... view
ITPR2 p.V2500fs 12 26553091 26553092 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc001rhg.2 ITPR2_uc009zjg.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SW48_LARGE_INTE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JARID2 p.Q77H 6 15410504 15410504 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T uc003nbj.2 JARID2_uc011diu... Hybrid_Cap... view
JARID2 p.I590fs 6 15497226 15497226 SW48_LARGE_INTE... 37 Frame_Shift_Del Del C - uc003nbj.2 JARID2_uc011diu... Hybrid_Cap...
JARID2 p.L892I 6 15507590 15507590 SW48_LARGE_INTE... 37 Missense_Mutation SNP C A uc003nbj.2 JARID2_uc011div... Hybrid_Cap... view
KALRN p.A467V 3 124048829 124048829 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KCNH2 p.P151fs 7 150656679 150656679 SW48_LARGE_INTE... 37 Frame_Shift_Del Del G - uc003wic.2 KCNH2_uc011kux.... Hybrid_Cap...
KDM6A p.W684fs X 44923035 44923036 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - A uc011mkz.1 KDM6A_uc010nhk.... Hybrid_Cap...
KIAA1549 p.S816N 7 138601925 138601925 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc011kql.1 KIAA1549_uc003v... Hybrid_Cap... view
KIAA2022 X 73959147 73959147 SW48_LARGE_INTE... 37 3'UTR SNP C T uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 SW48_LARGE_INTE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KPNA5 p.V518M 6 117053418 117053418 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003pxh.2 Hybrid_Cap... view
KTN1 14 56150981 56150981 SW48_LARGE_INTE... 37 3'UTR Del A - uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap...
LAMA1 p.D1100fs 18 7013879 7013879 SW48_LARGE_INTE... 37 Frame_Shift_Del Del C - uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap...
LAMA1 p.L2766F 18 6950882 6950882 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002knm.2 LAMA1_uc002knk.... Hybrid_Cap... view
LATS2 13 21620223 21620223 SW48_LARGE_INTE... 37 5'UTR Del A - rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LGR5 p.P415L 12 71971740 71971740 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc001swl.2 LGR5_uc001swm.2... Hybrid_Cap... view
LIMK2 p.A571fs 22 31672777 31672777 SW48_LARGE_INTE... 37 Frame_Shift_Del Del C - uc003akj.2 LIMK2_uc003akg.... Hybrid_Cap...
LRGUK p.G762R 7 133943094 133943094 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003vrm.1 Hybrid_Cap... view
LRP1 p.T1868I 12 57575015 57575015 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc001snd.2 Hybrid_Cap... view
LRP1 p.C3561Y 12 57596291 57596291 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001snd.2 Hybrid_Cap... view
LRP1 p.M4394I 12 57605360 57605360 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001snd.2 Hybrid_Cap... view
LRP1B p.W3255L 2 141215082 141215082 SW48_LARGE_INTE... 37 Missense_Mutation SNP C A uc002tvj.1 Hybrid_Cap... view
LRP2 p.R1610G 2 170092442 170092442 SW48_LARGE_INTE... 37 Missense_Mutation SNP T C uc002ues.2 Hybrid_Cap... view
MAF 16 79632525 79632526 SW48_LARGE_INTE... 37 Intron Del TG - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAFB p.R249P 20 39316745 39316745 SW48_LARGE_INTE... 37 Missense_Mutation SNP C G uc002xji.2 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SW48_LARGE_INTE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 p.Q56P 15 66727451 66727451 SW48_LARGE_INTE... 37 Missense_Mutation SNP A C uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAP2K1 p.H119Y 15 66729147 66729147 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAP2K1 p.D351G 15 66782085 66782085 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc010bhq.2 MAP2K1_uc010ujp... Hybrid_Cap... view
MAP2K3 p.R175W 17 21206501 21206501 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002gys.2 MAP2K3_uc002gyt... Hybrid_Cap... view
MAP2K3 p.P233H 17 21208364 21208364 SW48_LARGE_INTE... 37 Missense_Mutation SNP C A uc002gys.2 MAP2K3_uc002gyt... Hybrid_Cap... view
MAP2K6 17 67516341 67516341 SW48_LARGE_INTE... 37 Intron Del T - uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap...
MAP2K7 p.P286_splice 19 7976134 7976134 SW48_LARGE_INTE... 37 Splice_Site_SNP SNP G A uc002miv.2 MAP2K7_uc010xka... Hybrid_Cap... view
MAP2K7 p.S357fs 19 7976434 7976434 SW48_LARGE_INTE... 37 Frame_Shift_Del Del G - uc002miv.2 MAP2K7_uc010xka... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SW48_LARGE_INTE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K10 p.R399W 19 40711824 40711824 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002ona.2 MAP3K10_uc002on... Hybrid_Cap... view
MAP3K13 p.R53* 3 185146526 185146526 SW48_LARGE_INTE... 37 Nonsense_Mutation SNP C T uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 SW48_LARGE_INTE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K6 p.P848fs 1 27685239 27685239 SW48_LARGE_INTE... 37 Frame_Shift_Del Del G - uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap...
MAP3K7 6 91246243 91246243 SW48_LARGE_INTE... 37 Intron Del A - uc003pnz.1 MAP3K7_uc003pny... Hybrid_Cap...
MAP4K4 2 102507894 102507895 SW48_LARGE_INTE... 37 3'UTR Ins - T uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap...
MAPK10 p.K191N 4 87022362 87022362 SW48_LARGE_INTE... 37 Missense_Mutation SNP T G uc003hpq.2 MAPK10_uc010ikg... Hybrid_Cap... view
MAPK4 p.P279S 18 48248451 48248451 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 SW48_LARGE_INTE... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 SW48_LARGE_INTE... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MARK1 1 220754562 220754562 SW48_LARGE_INTE... 37 Intron SNP A G uc009xdw.2 MARK1_uc001hml.... Hybrid_Cap... view
MARK2 p.T6fs 11 63606994 63606995 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - C uc001nxw.2 MARK2_uc001nxx.... Hybrid_Cap...
MERTK p.G677R 2 112767593 112767593 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002thk.1 MERTK_uc002thl.... Hybrid_Cap... view
MET 7 116381122 116381125 SW48_LARGE_INTE... 37 Intron Del TTTT - uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap...
MET 7 116381133 116381134 SW48_LARGE_INTE... 37 Intron DNP TT GG uc010lkh.2 MET_uc003vij.2_... Hybrid_Cap...
MGA p.E1639K 15 42035073 42035073 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc010ucy.1 MGA_uc010ucz.1_... Hybrid_Cap... view
MGC42105 p.R77Q 5 43246107 43246107 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003jno.2 Hybrid_Cap... view
MITF 3 69985753 69985753 SW48_LARGE_INTE... 37 Intron SNP C T uc003dnz.2 MITF_uc011bgb.1... Hybrid_Cap... view
MLL3 p.R4544W 7 151845382 151845382 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLL3 p.K2797fs 7 151874148 151874148 SW48_LARGE_INTE... 37 Frame_Shift_Del Del T - uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap...
MLLT3 9 20346394 20346395 SW48_LARGE_INTE... 37 3'UTR Del AA - uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MLLT4 p.A544S 6 168303049 168303049 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap... view
MMP2 16 55539505 55539505 SW48_LARGE_INTE... 37 3'UTR SNP C T uc002ehz.3 MMP2_uc010vhd.1... Hybrid_Cap... view
MNX1 p.Q313L 7 156798482 156798482 SW48_LARGE_INTE... 37 Missense_Mutation SNP T A uc003wnd.1 MNX1_uc003wmz.2... Hybrid_Cap... view
MSH6 p.T1085fs 2 48030639 48030640 SW48_LARGE_INTE... 37 Frame_Shift_Ins Ins - C rs63750431 uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap...
MST1R p.Q516H 3 49936300 49936300 SW48_LARGE_INTE... 37 Missense_Mutation SNP C A uc003cxy.3 MST1R_uc011bdd.... Hybrid_Cap... view
MTOR p.V2389_splice 1 11174511 11174511 SW48_LARGE_INTE... 37 Splice_Site_SNP SNP C A uc001asd.2 MTOR_uc001asc.2... Hybrid_Cap... view
MYH11 16 15802687 15802687 SW48_LARGE_INTE... 37 Intron Del G - rs111588143 uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap...
MYLK p.D1703N 3 123348328 123348328 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap... view
MYST4 10 76790936 76790936 SW48_LARGE_INTE... 37 3'UTR Del A - uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 SW48_LARGE_INTE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SW48_LARGE_INTE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 p.S1211N 8 71040717 71040717 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc003xyn.1 NCOA2_uc011lfb.... Hybrid_Cap... view
NEK8 p.R23Q 17 27061021 27061021 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002hcp.2 Hybrid_Cap... view
NGF p.V232fs 1 115828721 115828722 SW48_LARGE_INTE... 37 Frame_Shift_Del Del CA - uc001efu.1 Hybrid_Cap...
NIPBL p.K601fs 5 36985083 36985083 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NIPBL 5 37051862 37051862 SW48_LARGE_INTE... 37 Intron Del T - uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap...
NOS2 p.C200R 17 26110002 26110002 SW48_LARGE_INTE... 37 Missense_Mutation SNP A G uc002gzu.2 NOS2_uc010crh.1... Hybrid_Cap... view
NOTCH1 p.P668S 9 139409754 139409754 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc004chz.2 NOTCH1_uc004cia... Hybrid_Cap... view
NOTCH2 p.R1231W 1 120471800 120471800 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001eik.2 Hybrid_Cap... view
NOTCH3 p.V1734I 19 15278222 15278222 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002nan.2 Hybrid_Cap... view
NPAT p.G929_splice 11 108040772 108040773 SW48_LARGE_INTE... 37 Splice_Site_Ins Ins - A rs35747263 uc001pjz.3 NPAT_uc010rvv.1... Hybrid_Cap...
NPR1 1 153665919 153665920 SW48_LARGE_INTE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPR2 p.V140I 9 35792823 35792823 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 SW48_LARGE_INTE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR4A3 p.L615R 9 102626079 102626079 SW48_LARGE_INTE... 37 Missense_Mutation SNP T G uc004bai.2 NR4A3_uc004baf.... Hybrid_Cap... view
NTRK1 p.R583fs 1 156846308 156846308 SW48_LARGE_INTE... 37 Frame_Shift_Del Del C - uc001fqh.1 NTRK1_uc001fqf.... Hybrid_Cap...
NUDT11 X 51234522 51234522 SW48_LARGE_INTE... 37 3'UTR SNP C T uc010njt.2 Hybrid_Cap... view
NUP214 p.T299M 9 134010349 134010349 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
NUP214 p.P1377L 9 134073011 134073011 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
NUP98 p.E1670G 11 3700848 3700848 SW48_LARGE_INTE... 37 Missense_Mutation SNP T C uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
ODZ1 p.D1873G X 123525972 123525972 SW48_LARGE_INTE... 37 Missense_Mutation SNP T C uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
ODZ1 p.G545D X 123780606 123780606 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
OLFM4 p.E122K 13 53616051 53616051 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001vhl.2 OLFM4_uc001vhk.... Hybrid_Cap... view
OSR1 p.T75M 2 19553343 19553343 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc002rdc.2 Hybrid_Cap... view
PAK1 11 77034163 77034163 SW48_LARGE_INTE... 37 3'UTR SNP G A uc001oyg.3 PAK1_uc010rso.1... Hybrid_Cap... view
PAK1 p.D178E 11 77070006 77070006 SW48_LARGE_INTE... 37 Missense_Mutation SNP A C uc001oyg.3 PAK1_uc010rso.1... Hybrid_Cap... view
PAK7 p.G34S 20 9624877 9624877 SW48_LARGE_INTE... 37 Missense_Mutation SNP C T uc002wnl.2 PAK7_uc002wnk.2... Hybrid_Cap... view
PAX3 2 223065754 223065755 SW48_LARGE_INTE... 37 3'UTR Del AC - uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223066039 223066039 SW48_LARGE_INTE... 37 Intron Del T - uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158425 223158426 SW48_LARGE_INTE... 37 Intron Del CT - uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SW48_LARGE_INTE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAXIP1 7 154775137 154775137 SW48_LARGE_INTE... 37 Intron SNP C T uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap... view
PBX1 p.V414L 1 164815860 164815860 SW48_LARGE_INTE... 37 Missense_Mutation SNP G T uc001gct.2 PBX1_uc010pku.1... Hybrid_Cap... view
PCM1 p.R138Q 8 17796319 17796319 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PCM1 8 17813218 17813218 SW48_LARGE_INTE... 37 Intron Del T - uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PDCD1 2 242793033 242793033 SW48_LARGE_INTE... 37 3'UTR SNP G A uc002wcq.3 PDCD1_uc010fzs.... Hybrid_Cap... view
PDCD11 p.P481R 10 105174832 105174832 SW48_LARGE_INTE... 37 Missense_Mutation SNP C G uc001kwy.1 Hybrid_Cap... view
PDE4DIP p.A2049V 1 144859938 144859938 SW48_LARGE_INTE... 37 Missense_Mutation SNP G A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 SW48_LARGE_INTE... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 SW48_LARGE_INTE... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFB 22 39636900 39636901 SW48_LARGE_INTE... 37 Intron Del TC - uc003axf.2 PDGFB_uc003axe.... Hybrid_Cap...
PDGFRA p.G426D 4 55138600 55138600