Annotation Summary for Cell Line: SNU-175  

Cell line primary name: SNU-175
Cell line aliases: NCI-SNU-175
Gender: F
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: NS
Notes:
Source: KCLB
Expression arrays: GILDS_p_NCLE_RNA11_Redo_HG-U133_Plus_2_A03_587658
SNP arrays: QUAFF_p_NCLE_DNAAffy12_GenomeWideSNP_6_A08_592750
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SNU-175

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 SNU175_LARGE_IN... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC3 p.T1470S 17 48765025 48765025 SNU175_LARGE_IN... 37 Missense_Mutation SNP C G uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ABCC4 13 95748173 95748173 SNU175_LARGE_IN... 37 Intron SNP T C uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ABCC4 p.A372S 13 95858833 95858833 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap... view
ABCC4 p.A224T 13 95861803 95861804 SNU175_LARGE_IN... 37 Missense_Mutation DNP CA TG rs899494 uc001vmd.3 ABCC4_uc010afk.... Hybrid_Cap...
ABI1 10 27037488 27037488 SNU175_LARGE_IN... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ABL2 1 179086420 179086420 SNU175_LARGE_IN... 37 Intron Del A - uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ACACA p.R1768C 17 35518742 35518742 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACB p.E694K 12 109625903 109625903 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACSL6 p.R374H 5 131309041 131309041 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003kvx.1 ACSL6_uc003kvv.... Hybrid_Cap... view
ACSL6 p.V56M 5 131329828 131329828 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003kvx.1 ACSL6_uc003kvv.... Hybrid_Cap... view
ACVR2A p.R88K 2 148654077 148654077 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap... view
ACVR2A p.R202* 2 148672835 148672835 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP A T uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap... view
ACVRL1 p.A227V 12 52308277 52308277 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap... view
ACVRL1 p.Q490fs 12 52314634 52314634 SNU175_LARGE_IN... 37 Frame_Shift_Del Del A - uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap...
ADAM28 p.S426T 8 24188835 24188835 SNU175_LARGE_IN... 37 Missense_Mutation SNP T A uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SNU175_LARGE_IN... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.P57S 4 175896845 175896845 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
ADAMTS18 p.G327G 16 77397774 77397774 SNU175_LARGE_IN... 37 Silent SNP G A uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
ADAMTS2 p.R493H 5 178580529 178580529 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003mjw.2 ADAMTS2_uc011dg... Hybrid_Cap... view
ADRBK1 p.D403N 11 67050269 67050269 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc009yrn.1 ADRBK1_uc009yrm... Hybrid_Cap... view
AFF3 p.T975M 2 100194858 100194858 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF3 p.A595V 2 100210414 100210414 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF3 p.L414P 2 100266106 100266106 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF3 2 100623992 100623992 SNU175_LARGE_IN... 37 Intron SNP C T uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AFF4 p.D261D 5 132269974 132269974 SNU175_LARGE_IN... 37 Silent SNP G A uc003kyd.2 AFF4_uc011cxk.1... Hybrid_Cap... view
AIFM1 X 129271448 129271448 SNU175_LARGE_IN... 37 Intron SNP G A uc004evg.2 AIFM1_uc011mur.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SNU175_LARGE_IN... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.S204P 14 33014469 33014469 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap... view
AKAP9 p.E3036G 7 91715624 91715624 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
AKT1 p.V337M 14 105239378 105239378 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
AKT3 1 243668379 243668379 SNU175_LARGE_IN... 37 3'UTR SNP C T uc001iab.1 AKT3_uc001hzz.1... Hybrid_Cap... view
ALK p.R1113W 2 29446230 29446230 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002rmy.2 ALK_uc010ymo.1_... Hybrid_Cap... view
ALPK1 4 113347609 113347610 SNU175_LARGE_IN... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.K523fs 18 56246440 56246440 SNU175_LARGE_IN... 37 Frame_Shift_Del Del T - uc002lhj.3 Hybrid_Cap...
ALPK2 p.R413G 18 56246771 56246771 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc002lhj.3 Hybrid_Cap... view
ALS2 p.W583C 2 202614501 202614501 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
ANAPC5 p.A438V 12 121765026 121765026 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
APC p.A199V 5 112116551 112116551 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.R232* 5 112128191 112128191 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.K1454fs 5 112175651 112175651 SNU175_LARGE_IN... 37 Frame_Shift_Del Del A - rs111866410 uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
APC p.G1499* 5 112175786 112175786 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP G T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
AR p.R407H X 66766208 66766208 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc004dwu.1 AR_uc011mpd.1_M... Hybrid_Cap... view
AR p.A597T X 66905872 66905872 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc004dwu.1 AR_uc011mpd.1_M... Hybrid_Cap... view
ARFGEF1 p.P1552fs 8 68128856 68128856 SNU175_LARGE_IN... 37 Frame_Shift_Del Del G - uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap...
ARHGAP26 p.A718V 5 142586927 142586927 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc011dbj.1 ARHGAP26_uc003l... Hybrid_Cap... view
ARHGAP29 1 94643144 94643144 SNU175_LARGE_IN... 37 Intron Del T - uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap...
ARHGAP29 p.R707H 1 94649834 94649834 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001dqj.3 ARHGAP29_uc009w... Hybrid_Cap... view
ARHGDIB p.P80L 12 15102762 15102762 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001rcq.1 ARHGDIB_uc001rc... Hybrid_Cap... view
ARHGEF10 p.T999I 8 1877526 1877526 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARHGEF12 p.I831F 11 120329993 120329993 SNU175_LARGE_IN... 37 Missense_Mutation SNP A T uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ARID1A p.Q1277Q 1 27099952 27099952 SNU175_LARGE_IN... 37 Silent SNP G A uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ARID1A p.S1390S 1 27100888 27100888 SNU175_LARGE_IN... 37 Silent SNP C T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ARID1A p.K1862R 1 27105974 27105974 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap... view
ARNT p.N463D 1 150795677 150795677 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc001evr.1 ARNT_uc001evs.1... Hybrid_Cap... view
ASPH 8 62538655 62538655 SNU175_LARGE_IN... 37 Intron Del A - uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATP10A p.A1211V 15 25926003 25926003 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc010ayu.2 Hybrid_Cap... view
ATR p.Q1137* 3 142261548 142261548 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP G A uc003eux.3 Hybrid_Cap... view
AURKC 19 57742531 57742532 SNU175_LARGE_IN... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXIN1 p.K597E 16 347222 347222 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
AXIN2 p.R339H 17 63537616 63537616 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002jfi.2 AXIN2_uc010den.... Hybrid_Cap... view
AXL p.A431T 19 41745604 41745604 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A rs78682671 uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
AXL 19 41749721 41749721 SNU175_LARGE_IN... 37 Intron SNP G A uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
AXL p.A857T 19 41765693 41765693 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BAG4 p.G247V 8 38066637 38066637 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc003xky.1 BAG4_uc003xkz.1... Hybrid_Cap... view
BAI1 p.R614* 8 143562626 143562626 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP C T uc003ywm.2 Hybrid_Cap... view
BAI1 p.R633C 8 143562683 143562683 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003ywm.2 Hybrid_Cap... view
BAI1 p.R1255Q 8 143623359 143623359 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003ywm.2 Hybrid_Cap... view
BAI1 p.R1335Q 8 143623599 143623599 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003ywm.2 Hybrid_Cap... view
BAX 19 49464508 49464508 SNU175_LARGE_IN... 37 3'UTR Del T - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BCL2L11 p.P78L 2 111881555 111881555 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002tgv.1 BCL2L11_uc002tg... Hybrid_Cap... view
BCL6 p.R140H 3 187447774 187447774 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003frp.3 BCL6_uc011bsf.1... Hybrid_Cap... view
BCL9 1 147083506 147083506 SNU175_LARGE_IN... 37 5'UTR SNP C T uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BLM p.C318S 15 91295170 91295170 SNU175_LARGE_IN... 37 Missense_Mutation SNP G C uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BMP4 14 54416602 54416603 SNU175_LARGE_IN... 37 3'UTR Del TT - rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BMPR1B p.R450H 4 96073890 96073890 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003htm.3 BMPR1B_uc010ilb... Hybrid_Cap... view
BMPR2 p.R272C 2 203383737 203383737 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
BNIP3 p.R69H 10 133786614 133786614 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001lkv.1 BNIP3_uc001lku.... Hybrid_Cap... view
BRCA2 p.L1208* 13 32912115 32912115 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP T A uc001uub.1 Hybrid_Cap... view
BRCA2 p.E1285fs 13 32912346 32912346 SNU175_LARGE_IN... 37 Frame_Shift_Del Del A - uc001uub.1 Hybrid_Cap...
BRD2 p.E522G 6 32945769 32945769 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap... view
BRD2 6 32948599 32948599 SNU175_LARGE_IN... 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
BRD3 p.E475K 9 136905376 136905376 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap... view
BRD4 p.A1203T 19 15350045 15350045 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002nar.2 Hybrid_Cap... view
BRIP1 p.A89V 17 59934532 59934532 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A rs28997568 uc002izk.1 Hybrid_Cap... view
BTG1 12 92537707 92537707 SNU175_LARGE_IN... 37 3'UTR Del T - uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BUB1 p.A183T 2 111427050 111427050 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap... view
C15ORF2 p.P796H 15 24923401 24923401 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc001ywo.2 Hybrid_Cap... view
CACNB2 p.A127V 10 18787330 18787330 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CACNB2 p.S557L 10 18828340 18828340 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CACNB2 10 18828721 18828722 SNU175_LARGE_IN... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAD p.R1839H 2 27463152 27463152 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002rji.2 CAD_uc010eyw.2_... Hybrid_Cap... view
CAMK1G p.Y236C 1 209782396 209782396 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc001hhd.2 CAMK1G_uc001hhf... Hybrid_Cap... view
CAMK1G p.Q306_splice 1 209785136 209785136 SNU175_LARGE_IN... 37 Splice_Site_SNP SNP G T uc001hhd.2 CAMK1G_uc001hhf... Hybrid_Cap... view
CAMKK1 p.R265H 17 3785556 3785556 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002fwv.2 CAMKK1_uc002fwt... Hybrid_Cap... view
CARD10 p.A643T 22 37893046 37893046 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003asx.1 CARD10_uc003ast... Hybrid_Cap... view
CARD11 p.A510V 7 2972210 2972210 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003smv.2 Hybrid_Cap... view
CASC5 p.T714A 15 40914524 40914524 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASC5 p.R1446* 15 40916720 40916720 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASK p.S403S X 41448792 41448792 SNU175_LARGE_IN... 37 Silent SNP G A uc004dfl.3 CASK_uc004dfj.3... Hybrid_Cap... view
CASP10 p.R87W 2 202050759 202050759 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002uxj.1 CASP10_uc002uxi... Hybrid_Cap... view
CASP7 10 115489357 115489357 SNU175_LARGE_IN... 37 3'UTR Del T - uc001lao.2 CASP7_uc001lam.... Hybrid_Cap...
CBFA2T3 p.T413M 16 88947863 88947863 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002fmm.1 CBFA2T3_uc002fm... Hybrid_Cap... view
CBFB 16 67132905 67132905 SNU175_LARGE_IN... 37 3'UTR Del T - uc002erb.2 CBFB_uc002era.2... Hybrid_Cap...
CBL p.D229V 11 119144673 119144673 SNU175_LARGE_IN... 37 Missense_Mutation SNP A T uc001pwe.2 Hybrid_Cap... view
CCL4 p.R45H 17 34431978 34431978 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002hkw.1 CCL4_uc002hkx.1... Hybrid_Cap... view
CCNB1IP1 14 20779552 20779552 SNU175_LARGE_IN... 37 3'UTR Del T - uc001vwv.2 CCNB1IP1_uc001v... Hybrid_Cap...
CCNB1IP1 p.R16H 14 20784636 20784636 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001vwv.2 CCNB1IP1_uc001v... Hybrid_Cap... view
CD40LG p.G226E X 135741465 135741465 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc004faa.2 CD40LG_uc010nsd... Hybrid_Cap... view
CDC25C p.V373M 5 137625234 137625234 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003lcs.1 CDC25C_uc003lcp... Hybrid_Cap... view
CDC42BPG p.N1396D 11 64594835 64594835 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc001obs.3 Hybrid_Cap... view
CDC42BPG p.S1007L 11 64599967 64599967 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001obs.3 Hybrid_Cap... view
CDC42BPG p.A231T 11 64606690 64606690 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001obs.3 Hybrid_Cap... view
CDC5L p.A632_splice 6 44397449 44397449 SNU175_LARGE_IN... 37 Splice_Site_SNP SNP G T uc003oxl.2 Hybrid_Cap... view
CDC73 p.R263C 1 193117054 193117054 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001gtb.2 Hybrid_Cap... view
CDK12 p.P1462T 17 37687480 37687480 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc010cvv.2 CDK12_uc002hrw.... Hybrid_Cap... view
CDK17 p.P167L 12 96704873 96704873 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001tep.1 CDK17_uc009ztk.... Hybrid_Cap... view
CDK19 p.E101D 6 110991646 110991646 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc003puh.1 CDK19_uc003pui.... Hybrid_Cap... view
CDK8 p.M273I 13 26970450 26970450 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CDKL2 p.K74fs 4 76539580 76539580 SNU175_LARGE_IN... 37 Frame_Shift_Del Del T - uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap...
CFI p.R353* 4 110670666 110670666 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP G A uc011cft.1 CFI_uc003hzq.2_... Hybrid_Cap... view
CFI p.G104R 4 110687728 110687728 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc011cft.1 CFI_uc003hzr.3_... Hybrid_Cap... view
CHD8 14 21853630 21853632 SNU175_LARGE_IN... 37 3'UTR Del TTT - rs78520772;rs78304393 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD8 14 21853749 21853749 SNU175_LARGE_IN... 37 3'UTR SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD8 p.K305fs 14 21884031 21884031 SNU175_LARGE_IN... 37 Frame_Shift_Del Del T - uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CHD9 p.R1794H 16 53326835 53326835 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHEK1 p.G361D 11 125514144 125514144 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc009zbo.2 CHEK1_uc010sbh.... Hybrid_Cap... view
CHL1 p.P741H 3 425544 425544 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CIC p.K194_splice 19 42791603 42791603 SNU175_LARGE_IN... 37 Splice_Site_SNP SNP T C uc002otf.1 Hybrid_Cap... view
CIITA p.D43fs 16 10989214 10989215 SNU175_LARGE_IN... 37 Frame_Shift_Ins Ins - C uc002daj.3 CIITA_uc002dai.... Hybrid_Cap...
CLK1 p.R451C 2 201718712 201718712 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc010zhi.1 CLK1_uc002uwd.2... Hybrid_Cap... view
CLK1 2 201724489 201724489 SNU175_LARGE_IN... 37 Intron SNP C A uc010zhi.1 CLK1_uc002uwd.2... Hybrid_Cap... view
CLK3 p.R154* 15 74911553 74911553 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010uln.1 CLK3_uc002ayg.3... Hybrid_Cap... view
CLK3 p.R183* 15 74911640 74911640 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP C T uc010uln.1 CLK3_uc002ayg.3... Hybrid_Cap... view
CLK3 15 74922239 74922239 SNU175_LARGE_IN... 37 3'UTR SNP C T uc010uln.1 CLK3_uc002ayg.3... Hybrid_Cap... view
CLTC p.G961S 17 57756830 57756830 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.A1214T 22 19188965 19188965 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.R923W 22 19208929 19208929 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN6 p.L352fs 3 1367608 1367608 SNU175_LARGE_IN... 37 Frame_Shift_Del Del A - uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap...
COL14A1 p.R283L 8 121211776 121211776 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL14A1 8 121383568 121383568 SNU175_LARGE_IN... 37 3'UTR SNP C T uc003yox.2 Hybrid_Cap... view
COL18A1 p.T474M 21 46888225 46888225 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
COL3A1 p.R1438G 2 189876411 189876411 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc002uqj.1 Hybrid_Cap... view
COL4A3BP p.D208N 5 74755000 74755000 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003kdt.2 COL4A3BP_uc011c... Hybrid_Cap... view
COPS5 p.A118V 8 67971471 67971471 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003xxe.2 COPS5_uc003xxd.... Hybrid_Cap... view
CPAMD8 p.R449C 19 17104288 17104288 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002nfb.2 Hybrid_Cap... view
CREB1 p.T324A 2 208461726 208461726 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc002vcc.2 CREB1_uc002vcd.... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SNU175_LARGE_IN... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CREBBP p.P2237T 16 3778339 3778339 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSF1R p.G145D 5 149459773 149459773 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap... view
CSMD3 p.V1723I 8 113504829 113504829 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.R820C 8 113697659 113697659 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSNK1A1L 13 37679458 37679458 SNU175_LARGE_IN... 37 5'UTR SNP G A uc001uwm.1 Hybrid_Cap... view
CTBP1 p.A122V 4 1219330 1219330 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003gcv.1 CTBP1_uc003gct.... Hybrid_Cap... view
CTBP2 p.A734V 10 126683237 126683237 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTNNB1 3 41277414 41277414 SNU175_LARGE_IN... 37 Intron SNP T C uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
CYFIP1 p.A678T 15 22960839 22960839 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYFIP1 15 23003047 23003047 SNU175_LARGE_IN... 37 3'UTR SNP G A uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
DAB1 p.A265T 1 57489306 57489306 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001cys.1 DAB1_uc001cyt.1... Hybrid_Cap... view
DBN1 p.R225W 5 176893952 176893952 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003mgx.2 DBN1_uc003mgy.2... Hybrid_Cap... view
DCLK1 p.A210T 13 36686101 36686101 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001uvf.2 Hybrid_Cap... view
DCLK1 p.V195M 13 36686146 36686146 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001uvf.2 Hybrid_Cap... view
DCLK1 p.A162V 13 36686244 36686244 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001uvf.2 Hybrid_Cap... view
DDR1 p.L907L 6 30867032 30867032 SNU175_LARGE_IN... 37 Silent SNP C T uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DDX10 11 108788853 108788854 SNU175_LARGE_IN... 37 Intron Ins - T uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap...
DFFB 1 3800430 3800430 SNU175_LARGE_IN... 37 3'UTR Del A - uc010nzn.1 DFFB_uc001alc.2... Hybrid_Cap...
DICER1 p.P1086H 14 95571420 95571420 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DICER1 p.G661D 14 95579487 95579487 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001ydw.2 DICER1_uc001ydv... Hybrid_Cap... view
DIP2C p.V1150I 10 390754 390754 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001ifp.2 DIP2C_uc009xhi.... Hybrid_Cap... view
DLC1 p.R1292* 8 12947961 12947961 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP G A uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DLC1 p.V621I 8 12957985 12957985 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DLL1 p.G631D 6 170592475 170592475 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003qxm.2 Hybrid_Cap... view
DNAH8 p.A840fs 6 38775405 38775406 SNU175_LARGE_IN... 37 Frame_Shift_Ins Ins - T uc003ooe.1 Hybrid_Cap...
DNAH8 p.A4194V 6 38976607 38976607 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
DOCK3 p.S1734F 3 51400013 51400013 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc011bds.1 Hybrid_Cap... view
DPYD p.R394Q 1 98039474 98039474 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001drv.2 Hybrid_Cap... view
DST 6 56323731 56323731 SNU175_LARGE_IN... 37 3'UTR SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.R3900C 6 56391233 56391233 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.S2190N 6 56443713 56443713 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56480312 56480312 SNU175_LARGE_IN... 37 Intron SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.R1008W 6 56500452 56500452 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.T868I 6 56504405 56504405 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DTX1 p.A176T 12 113515495 113515495 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001tuk.1 Hybrid_Cap... view
DVL1 p.A156A 1 1277184 1277184 SNU175_LARGE_IN... 37 Silent SNP G A uc001aer.3 DVL1_uc002quu.2... Hybrid_Cap... view
DYRK1B p.A65V 19 40321193 40321193 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002omj.2 DYRK1B_uc002omi... Hybrid_Cap... view
DYRK4 p.R526M 12 4721795 4721795 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc009zeh.1 DYRK4_uc001qmx.... Hybrid_Cap... view
EDNRA 4 148406767 148406767 SNU175_LARGE_IN... 37 5'UTR Del A - uc003iky.2 EDNRA_uc011cid.... Hybrid_Cap...
EGF p.W1052R 4 110920983 110920983 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EGFR p.A864V 7 55259533 55259533 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap... view
EIF2AK4 p.P1145S 15 40300253 40300253 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EIF4A1 p.R282W 17 7480962 7480962 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002gho.1 EIF4A1_uc002ghr... Hybrid_Cap... view
EIF4B p.R87Q 12 53412690 53412690 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc010snu.1 EIF4B_uc009zmp.... Hybrid_Cap... view
EIF4G1 p.S1292F 3 184045691 184045691 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc010hxx.2 EIF4G1_uc003fnp... Hybrid_Cap... view
ELAVL1 p.I276F 19 8028522 8028522 SNU175_LARGE_IN... 37 Missense_Mutation SNP T A uc002mjb.2 Hybrid_Cap... view
ELF4 p.H405R X 129201474 129201474 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc004evd.3 ELF4_uc004eve.3... Hybrid_Cap... view
ELK1 p.R65W X 47500648 47500648 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc004dik.3 ELK1_uc010nhv.2... Hybrid_Cap... view
EPHA2 p.A928D 1 16455971 16455971 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc001aya.1 Hybrid_Cap... view
EPHA4 2 222291171 222291171 SNU175_LARGE_IN... 37 Intron SNP G A uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA4 p.V339A 2 222347374 222347374 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA4 p.R162I 2 222428789 222428789 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 SNU175_LARGE_IN... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA7 p.I567V 6 93974355 93974355 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHA8 p.A622V 1 22923904 22923904 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001bfx.1 Hybrid_Cap... view
EPHA8 p.G647R 1 22924177 22924177 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001bfx.1 Hybrid_Cap... view
EPHA8 p.H950R 1 22927912 22927912 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc001bfx.1 Hybrid_Cap... view
EPHB4 p.V84I 7 100421427 100421427 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPS15 1 51822220 51822220 SNU175_LARGE_IN... 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
ERBB4 p.R1250W 2 212248519 212248519 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERBB4 p.S430_splice 2 212568827 212568827 SNU175_LARGE_IN... 37 Splice_Site_SNP SNP A G uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERCC2 19 45854766 45854766 SNU175_LARGE_IN... 37 3'UTR SNP A T uc002pbj.2 KLC3_uc002pbf.1... Hybrid_Cap... view
ERCC3 p.V193A 2 128047344 128047344 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc002toh.1 ERCC3_uc002toe.... Hybrid_Cap... view
ERCC5 p.K1369fs 13 103524612 103524612 SNU175_LARGE_IN... 37 Frame_Shift_Del Del A - uc001vpu.1 ERCC5_uc001vpw.... Hybrid_Cap...
ERCC6 p.R176Q 10 50738782 50738782 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001jhs.3 PGBD3_uc009xoe.... Hybrid_Cap... view
ERLIN2 8 37603202 37603202 SNU175_LARGE_IN... 37 Intron SNP G A uc003xke.3 ERLIN2_uc003xkc... Hybrid_Cap... view
ERN1 p.V216I 17 62144227 62144227 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002jdz.2 Hybrid_Cap... view
ETV1 p.P138fs 7 13975473 13975473 SNU175_LARGE_IN... 37 Frame_Shift_Del Del G - uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV1 7 14028708 14028708 SNU175_LARGE_IN... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV4 17 41607586 41607586 SNU175_LARGE_IN... 37 Intron Del G - uc002idw.2 ETV4_uc002idv.2... Hybrid_Cap...
EXT1 8 118811807 118811810 SNU175_LARGE_IN... 37 3'UTR Del TTTT - uc003yok.1 Hybrid_Cap...
EXT2 p.L605H 11 44253955 44253955 SNU175_LARGE_IN... 37 Missense_Mutation SNP T A uc001mya.2 EXT2_uc010rfo.1... Hybrid_Cap... view
F8 X 154065869 154065869 SNU175_LARGE_IN... 37 3'UTR SNP C T uc004fmt.2 F8_uc004fms.2_3... Hybrid_Cap... view
FAM123B p.V866M X 63410571 63410571 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc004dvo.2 Hybrid_Cap... view
FANCA p.L593F 16 89845258 89845258 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002fou.1 FANCA_uc010vpn.... Hybrid_Cap... view
FANCB p.K522R X 14863340 14863340 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc004cwg.1 FANCB_uc004cwh.... Hybrid_Cap... view
FANCC 9 98011638 98011638 SNU175_LARGE_IN... 37 5'UTR SNP G A uc004avh.2 FANCC_uc004avi.... Hybrid_Cap... view
FANCD2 3 10081677 10081677 SNU175_LARGE_IN... 37 Intron Del A - uc003buw.2 FANCD2_uc003bux... Hybrid_Cap...
FANCD2 3 10140700 10140700 SNU175_LARGE_IN... 37 3'UTR SNP C T uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FANCE p.Q285H 6 35424130 35424130 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc003oko.1 FANCE_uc010jvw.... Hybrid_Cap... view
FANCL p.M74I 2 58453914 58453914 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002rzx.3 FANCL_uc002rzw.... Hybrid_Cap... view
FASN p.A1798V 17 80041250 80041250 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002kdu.2 FASN_uc002kdv.1... Hybrid_Cap... view
FBN1 p.N1422D 15 48764820 48764820 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc001zwx.1 Hybrid_Cap... view
FBN1 p.G1399D 15 48766466 48766466 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001zwx.1 Hybrid_Cap... view
FBN1 p.A882V 15 48787352 48787352 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001zwx.1 Hybrid_Cap... view
FBN2 p.A1879T 5 127641242 127641242 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003kuu.2 Hybrid_Cap... view
FBN2 p.P113L 5 127866386 127866386 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FBXO43 p.F336S 8 101153475 101153475 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc003yjd.2 FBXO43_uc003yje... Hybrid_Cap... view
FBXW7 p.A626V 4 153244280 153244280 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FBXW7 p.E529D 4 153247215 153247215 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FBXW7 p.R465C 4 153249385 153249385 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FES p.L105F 15 91428741 91428741 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002bpv.2 FES_uc010uqj.1_... Hybrid_Cap... view
FGF19 p.F188L 11 69514119 69514119 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc001opf.2 Hybrid_Cap... view
FGF2 4 123813655 123813655 SNU175_LARGE_IN... 37 3'UTR SNP A G rs3804156 uc003iev.1 Hybrid_Cap... view
FGFR2 p.D457Y 10 123263377 123263377 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FGFR3 p.T691M 4 1808308 1808308 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FGFR4 5 176519815 176519815 SNU175_LARGE_IN... 37 Intron SNP C T uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FGFR4 p.C725* 5 176524314 176524314 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP C A uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FLI1 11 128638217 128638217 SNU175_LARGE_IN... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.T835M X 153590847 153590847 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc004fkk.2 FLNA_uc010nuu.1... Hybrid_Cap... view
FLNB p.R2132C 3 58135888 58135888 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNB p.A2224T 3 58139311 58139311 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNC p.P2123T 7 128493774 128493774 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLNC 7 128498631 128498632 SNU175_LARGE_IN... 37 3'UTR Del AC - uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap...
FLT4 5 180035183 180035185 SNU175_LARGE_IN... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 p.H2382Y 2 216230228 216230228 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FN1 2 216244182 216244185 SNU175_LARGE_IN... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FNBP1 p.N78N 9 132740855 132740855 SNU175_LARGE_IN... 37 Silent SNP G A uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap... view
FOS 14 75746576 75746576 SNU175_LARGE_IN... 37 Intron SNP C T uc001xrn.2 FOS_uc010tva.1_... Hybrid_Cap... view
GATA2 p.R398Q 3 128200112 128200112 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003ekm.3 GATA2_uc003ekn.... Hybrid_Cap... view
GATA2 p.S261N 3 128204659 128204659 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003ekm.3 GATA2_uc003ekn.... Hybrid_Cap... view
GCNT2 6 10530192 10530192 SNU175_LARGE_IN... 37 Intron Del A - uc010joo.2 GCNT2_uc010jol.... Hybrid_Cap...
GLG1 p.P915L 16 74497301 74497301 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GLG1 p.K1100E 16 74490621 74490621 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GLI2 p.R1298C 2 121747382 121747382 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc010flp.2 GLI2_uc002tmq.1... Hybrid_Cap... view
GMPS 3 155588654 155588654 SNU175_LARGE_IN... 37 5'UTR SNP G A uc003faq.2 GMPS_uc011bom.1... Hybrid_Cap... view
GMPS p.R169H 3 155624032 155624032 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003faq.2 GMPS_uc011bom.1... Hybrid_Cap... view
GNAS p.R844C 20 57484420 57484420 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T rs11554273 uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GPHN p.P698H 14 67635728 67635728 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc010tss.1 GPHN_uc001xix.2... Hybrid_Cap... view
GPR112 p.D2590N X 135455215 135455215 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SNU175_LARGE_IN... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SNU175_LARGE_IN... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIK1 p.A118D 21 31062239 31062239 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc011acs.1 GRIK1_uc002ynn.... Hybrid_Cap... view
GRK1 p.A79T 13 114321936 114321936 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc010tkf.1 Hybrid_Cap... view
GRK6 p.F245L 5 176860672 176860672 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc011dfz.1 GRK6_uc003mgp.2... Hybrid_Cap... view
GRK7 p.T285M 3 141499457 141499457 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc011bnd.1 Hybrid_Cap... view
GSG2 p.R692H 17 3629304 3629304 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002fwp.2 ITGAE_uc002fwo.... Hybrid_Cap... view
GSK3A p.R272* 19 42738595 42738595 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP G A uc002otb.1 GSK3A_uc002ota.... Hybrid_Cap... view
GSK3A p.V133M 19 42744181 42744181 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002otb.1 GSK3A_uc002ota.... Hybrid_Cap... view
GUCY1A2 11 106558211 106558211 SNU175_LARGE_IN... 37 3'UTR SNP C A uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap... view
GUCY1A2 p.L340fs 11 106810372 106810372 SNU175_LARGE_IN... 37 Frame_Shift_Del Del A - uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SNU175_LARGE_IN... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2D p.L531M 17 7911273 7911273 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc002gjt.2 Hybrid_Cap... view
GUCY2F p.T293I X 108708525 108708525 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HCK p.V136I 20 30662502 30662502 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002wxh.2 HCK_uc010gdy.2_... Hybrid_Cap... view
HCK p.A428V 20 30686843 30686843 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002wxh.2 HCK_uc010gdy.2_... Hybrid_Cap... view
HCK p.R492C 20 30689215 30689215 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002wxh.2 HCK_uc010gdy.2_... Hybrid_Cap... view
HDAC1 p.D422N 1 32797735 32797735 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc001bvb.1 HDAC1_uc010ohf.... Hybrid_Cap... view
HDAC2 p.L371I 6 114270155 114270155 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap... view
HDAC3 p.S191P 5 141008779 141008779 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc003llf.2 HDAC3_uc003lle.... Hybrid_Cap... view
HDAC4 p.R704H 2 240024579 240024579 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002vyk.3 HDAC4_uc010fyz.... Hybrid_Cap... view
HDAC6 p.A390T X 48673809 48673809 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap... view
HDAC6 p.A617T X 48675790 48675790 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap... view
HDLBP p.R255H 2 242195708 242195708 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002waz.2 HDLBP_uc002wba.... Hybrid_Cap... view
HECW1 p.G1345C 7 43580775 43580775 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HEPH p.A182V X 65393554 65393554 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HERC2 p.R1552Q 15 28478312 28478312 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001zbj.2 Hybrid_Cap... view
HERC2 p.A449T 15 28514495 28514495 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001zbj.2 HERC2_uc001zbl.... Hybrid_Cap... view
HGF p.V571I 7 81335649 81335649 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HIF1A 14 62213929 62213930 SNU175_LARGE_IN... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK2 p.I146T 7 139416397 139416397 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HLF 17 53345054 53345054 SNU175_LARGE_IN... 37 Intron SNP C T uc002iug.1 HLF_uc010dce.1_... Hybrid_Cap... view
HMMR p.K665fs 5 162917426 162917426 SNU175_LARGE_IN... 37 Frame_Shift_Del Del A - uc003lzh.2 HMMR_uc003lzf.2... Hybrid_Cap...
HNF1A 12 121434630 121434631 SNU175_LARGE_IN... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNF1B p.R232C 17 36093665 36093665 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc002hok.3 HNF1B_uc010wdi.... Hybrid_Cap... view
HNRNPA2B1 p.G285S 7 26233219 26233219 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc003sxr.3 HNRNPA2B1_uc003... Hybrid_Cap... view
HOXD10 2 176981519 176981519 SNU175_LARGE_IN... 37 5'UTR SNP C T uc002ukj.2 Hybrid_Cap... view
HOXD11 2 176974050 176974050 SNU175_LARGE_IN... 37 3'UTR SNP G A uc002uki.2 HOXD11_uc010fqx... Hybrid_Cap... view
HSP90AB1 p.Y472H 6 44219573 44219573 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
HSP90B1 p.K269fs 12 104331534 104331534 SNU175_LARGE_IN... 37 Frame_Shift_Del Del A - uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 SNU175_LARGE_IN... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
HSPB8 p.S180I 12 119631611 119631611 SNU175_LARGE_IN... 37 Missense_Mutation SNP G T uc001txb.2 HSPB8_uc001txc.... Hybrid_Cap... view
IDH1 p.N171S 2 209110051 209110051 SNU175_LARGE_IN... 37 Missense_Mutation SNP T C uc002vcs.2 IDH1_uc002vct.2... Hybrid_Cap... view
IDH2 15 90627309 90627309 SNU175_LARGE_IN... 37 3'UTR SNP G A uc002box.2 IDH2_uc010uqb.1... Hybrid_Cap... view
IFNG p.R130H 12 68549245 68549245 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001stw.1 Hybrid_Cap... view
IGF1R p.T79A 15 99250931 99250931 SNU175_LARGE_IN... 37 Missense_Mutation SNP A G uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
IGF1R p.R471C 15 99452077 99452077 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
IGFBP5 p.G223* 2 217542855 217542855 SNU175_LARGE_IN... 37 Nonsense_Mutation SNP C A uc002vgj.3 Hybrid_Cap... view
IKBKE p.R47W 1 206647725 206647725 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001hdz.1 IKBKE_uc009xbu.... Hybrid_Cap... view
IL18BP 11 71714671 71714671 SNU175_LARGE_IN... 37 3'UTR SNP C T uc001orh.1 IL18BP_uc009ysu... Hybrid_Cap... view
IL1B p.V68F 2 113591050 113591050 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc002tii.1 IL1B_uc002tih.1... Hybrid_Cap... view
IL1RN p.D132V 2 113890300 113890300 SNU175_LARGE_IN... 37 Missense_Mutation SNP A T uc002tiz.2 IL1RN_uc002tix.... Hybrid_Cap... view
IL21R 16 27460779 27460780 SNU175_LARGE_IN... 37 3'UTR Ins - TG rs66690088 uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
ILK 11 6630029 6630029 SNU175_LARGE_IN... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41729122 41729122 SNU175_LARGE_IN... 37 3'UTR Del T - uc003thq.2 INHBA_uc003thr.... Hybrid_Cap...
INHBA 7 41740183 41740183 SNU175_LARGE_IN... 37 5'UTR SNP C A uc003thq.2 LOC285954_uc003... Hybrid_Cap... view
INPP4B p.S509F 4 143081548 143081548 SNU175_LARGE_IN... 37 Missense_Mutation SNP G A uc003iix.3 INPP4B_uc003iiw... Hybrid_Cap... view
INSRR p.G1102S 1 156811997 156811997 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
IRAK4 12 44180569 44180569 SNU175_LARGE_IN... 37 3'UTR Del T - uc001rnu.3 IRAK4_uc001rnt.... Hybrid_Cap...
IRS1 p.K1186N 2 227659897 227659897 SNU175_LARGE_IN... 37 Missense_Mutation SNP C A uc002voh.3 Hybrid_Cap... view
IRS1 p.H831Q 2 227660962 227660962 SNU175_LARGE_IN... 37 Missense_Mutation SNP A T uc002voh.3 Hybrid_Cap... view
IRS1 p.V640I 2 227661537 227661537 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002voh.3 Hybrid_Cap... view
IRS1 p.G481S 2 227662014 227662014 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc002voh.3 Hybrid_Cap... view
ISG15 p.T70M 1 949569 949569 SNU175_LARGE_IN... 37 Missense_Mutation SNP C T uc001acj.3 Hybrid_Cap... view