Annotation Summary for Cell Line: MDST8  

Cell line primary name: MDST8
Cell line aliases:
Gender:
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ECACC
Expression arrays: CRAZY_p_NCLE_RNA10_HG-U133_Plus_2_F09_569594
SNP arrays: VAULT_p_NCLE_DNAAffy14_GenomeWideSNP_6_G03_698662
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MDST8

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 MDST8_LARGE_INT... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 p.S577F 16 2349415 2349415 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABL2 1 179086419 179086420 MDST8_LARGE_INT... 37 Intron Ins - A rs72207641 uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ACACA 17 35766564 35766564 MDST8_LARGE_INT... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACACB p.Q2187H 12 109698349 109698349 MDST8_LARGE_INT... 37 Missense_Mutation SNP G T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM10 p.N429K 15 58919972 58919972 MDST8_LARGE_INT... 37 Missense_Mutation SNP G T uc002afd.1 ADAM10_uc010bgc... Hybrid_Cap... view
ADAM17 2 9666381 9666381 MDST8_LARGE_INT... 37 Intron SNP G A uc002qzu.2 ADAM17_uc010ewy... Hybrid_Cap... view
ADAM18 8 39468281 39468281 MDST8_LARGE_INT... 37 Intron SNP C T uc003xni.2 ADAM18_uc003xnh... Hybrid_Cap... view
ADAM28 8 24211994 24211997 MDST8_LARGE_INT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.G470R 16 77389889 77389889 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
AIM1 p.G754R 6 106968567 106968567 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc003prh.2 Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 MDST8_LARGE_INT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.E192K 14 33005009 33005009 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap... view
ALK p.I981V 2 29449914 29449914 MDST8_LARGE_INT... 37 Missense_Mutation SNP T C uc002rmy.2 Hybrid_Cap... view
ALPK1 4 113347609 113347610 MDST8_LARGE_INT... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
APC p.E1554fs 5 112175951 112175952 MDST8_LARGE_INT... 37 Frame_Shift_Ins Ins - A uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
ARFGEF1 p.R789C 8 68170396 68170396 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap... view
ASTN1 p.D491N 1 176983979 176983979 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATP13A5 p.G1150* 3 192993040 192993040 MDST8_LARGE_INT... 37 Nonsense_Mutation SNP C A uc011bsq.1 Hybrid_Cap... view
BAI3 p.E1305K 6 70071078 70071078 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCL9 p.R813Q 1 147092399 147092399 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BCR 22 23631813 23631814 MDST8_LARGE_INT... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 MDST8_LARGE_INT... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC6 p.S4151T 2 32768467 32768467 MDST8_LARGE_INT... 37 Missense_Mutation SNP T A uc010ezu.2 Hybrid_Cap... view
BRAF p.V600K 7 140453136 140453137 MDST8_LARGE_INT... 37 Missense_Mutation DNP AC TT rs113488022 uc003vwc.3 Hybrid_Cap...
C17ORF37 17 37885640 37885641 MDST8_LARGE_INT... 37 3'UTR Ins - G rs75811535 uc002hsq.2 Hybrid_Cap...
CABC1 1 227171585 227171585 MDST8_LARGE_INT... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 MDST8_LARGE_INT... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 MDST8_LARGE_INT... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK6 p.H313Y 7 92244498 92244498 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc011khw.1 CDK6_uc010lez.2... Hybrid_Cap... view
CHL1 p.R325C 3 391166 391166 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 MDST8_LARGE_INT... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL14A1 p.G1768C 8 121381715 121381715 MDST8_LARGE_INT... 37 Missense_Mutation SNP G T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 MDST8_LARGE_INT... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSF3R p.E363V 1 36937231 36937231 MDST8_LARGE_INT... 37 Missense_Mutation SNP T A uc001cax.1 CSF3R_uc001cat.... Hybrid_Cap... view
CSK 15 75090733 75090733 MDST8_LARGE_INT... 37 Intron SNP C T uc010bkb.1 CSK_uc010bka.2_... Hybrid_Cap... view
CSK 15 75091159 75091159 MDST8_LARGE_INT... 37 Intron SNP C T uc010bkb.1 CSK_uc010bka.2_... Hybrid_Cap... view
CXCL10 p.P52S 4 76943878 76943878 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc003hjl.3 ART3_uc003hji.2... Hybrid_Cap... view
DAB1 1 57756765 57756765 MDST8_LARGE_INT... 37 5'UTR SNP C T uc001cys.1 DAB1_uc001cyt.1... Hybrid_Cap... view
DLC1 p.N286K 8 13356723 13356723 MDST8_LARGE_INT... 37 Missense_Mutation SNP A T uc003wwm.2 DLC1_uc003wwn.2... Hybrid_Cap... view
DLL1 6 170597706 170597706 MDST8_LARGE_INT... 37 Intron SNP C G uc003qxm.2 DLL1_uc011ehc.1... Hybrid_Cap... view
DRD2 11 113281314 113281314 MDST8_LARGE_INT... 37 3'UTR SNP G A uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DYRK1A p.S346F 21 38865404 38865404 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap... view
EDN1 6 12290729 12290729 MDST8_LARGE_INT... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EDN1 6 12296150 12296151 MDST8_LARGE_INT... 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EIF4E 4 99808137 99808141 MDST8_LARGE_INT... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
ELN p.P203S 7 73461061 73461061 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003tzw.2 RFC2_uc011kfa.1... Hybrid_Cap... view
EPHA6 p.D919D 3 97356899 97356899 MDST8_LARGE_INT... 37 Silent SNP T C uc010how.1 EPHA6_uc011bgp.... Hybrid_Cap... view
EPHB3 p.G512E 3 184295501 184295501 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc003foz.2 Hybrid_Cap... view
ERC1 p.R103W 12 1137376 1137376 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERCC2 p.E754Q 19 45854910 45854910 MDST8_LARGE_INT... 37 Missense_Mutation SNP C G uc002pbj.2 ERCC2_uc002pbh.... Hybrid_Cap... view
FASN p.E2415K 17 80037388 80037388 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc002kdu.2 FASN_uc002kdv.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 MDST8_LARGE_INT... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 MDST8_LARGE_INT... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 MDST8_LARGE_INT... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNB p.D1737N 3 58127591 58127591 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLT4 p.I1053L 5 180043429 180043429 MDST8_LARGE_INT... 37 Missense_Mutation SNP T G uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FLT4 p.A153A 5 180057279 180057279 MDST8_LARGE_INT... 37 Silent SNP G A uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FN1 2 216244182 216244185 MDST8_LARGE_INT... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 MDST8_LARGE_INT... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.E379K 16 9943806 9943806 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GRIN2A p.S1291F 16 9857529 9857529 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 MDST8_LARGE_INT... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
GUCY2F p.M367I X 108697020 108697020 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc004eod.3 GUCY2F_uc011msq... Hybrid_Cap... view
HNF1A 12 121434630 121434631 MDST8_LARGE_INT... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HOXA13 7 27237762 27237762 MDST8_LARGE_INT... 37 3'UTR SNP G A uc003szb.1 Hybrid_Cap... view
ILK 11 6630029 6630029 MDST8_LARGE_INT... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK4 p.M218I 12 44167770 44167770 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc001rnu.3 IRAK4_uc001rnt.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 MDST8_LARGE_INT... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KALRN p.S645F 3 124103861 124103861 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KDR p.R1032Q 4 55956220 55956220 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
KIAA1409 p.S2255F 14 94156489 94156489 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KLK7 19 51480672 51480675 MDST8_LARGE_INT... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LCP1 13 46718798 46718798 MDST8_LARGE_INT... 37 Intron SNP A C uc001vaz.3 LCP1_uc010ack.2... Hybrid_Cap... view
LMNB1 5 126172010 126172010 MDST8_LARGE_INT... 37 3'UTR SNP A T uc003kud.1 LMNB1_uc010jdb.... Hybrid_Cap... view
LRP1B p.D2876N 2 141260568 141260568 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
LRP2 p.P4054S 2 170011105 170011105 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc002ues.2 Hybrid_Cap... view
LRP6 p.S1612F 12 12274067 12274067 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc001rah.3 BCL2L14_uc001ra... Hybrid_Cap... view
MAF 16 79628537 79628537 MDST8_LARGE_INT... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAF 16 79628325 79628325 MDST8_LARGE_INT... 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 MDST8_LARGE_INT... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 MDST8_LARGE_INT... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K11 p.S569T 11 65373450 65373450 MDST8_LARGE_INT... 37 Missense_Mutation SNP C G uc001oew.2 MAP3K11_uc001oe... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 MDST8_LARGE_INT... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 17 43368216 43368217 MDST8_LARGE_INT... 37 Intron Ins - A uc002iiw.1 MAP3K14_uc002ii... Hybrid_Cap...
MAP4K5 14 50886628 50886628 MDST8_LARGE_INT... 37 3'UTR SNP A C uc001wya.2 MAP4K5_uc001wyb... Hybrid_Cap... view
MAP4K5 14 50886632 50886632 MDST8_LARGE_INT... 37 3'UTR SNP A T uc001wya.2 MAP4K5_uc001wyb... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 MDST8_LARGE_INT... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 MDST8_LARGE_INT... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MAST2 p.P1190S 1 46499504 46499504 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MAST4 p.S85L 5 66386047 66386047 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003jut.1 MAST4_uc003jus.... Hybrid_Cap... view
MCM3APAS 21 47671275 47671276 MDST8_LARGE_INT... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MED13L p.P544S 12 116446588 116446588 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc001tvw.2 Hybrid_Cap... view
MKRN3 p.I171F 15 23811440 23811440 MDST8_LARGE_INT... 37 Missense_Mutation SNP A T uc001ywh.3 MKRN3_uc001ywi.... Hybrid_Cap... view
MLL3 p.F3385L 7 151860509 151860509 MDST8_LARGE_INT... 37 Missense_Mutation SNP A G uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLLT6 17 36881873 36881873 MDST8_LARGE_INT... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MN1 22 28196635 28196635 MDST8_LARGE_INT... 37 5'UTR SNP A C uc003adj.2 Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 MDST8_LARGE_INT... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYH10 p.D378E 17 8451656 8451656 MDST8_LARGE_INT... 37 Missense_Mutation SNP A C uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYLK3 p.P251S 16 46771873 46771873 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc002eei.3 MYLK3_uc010vge.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 MDST8_LARGE_INT... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MDST8_LARGE_INT... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 p.R982W 8 71053503 71053503 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc003xyn.1 NCOA2_uc011lfb.... Hybrid_Cap... view
NCOA3 p.Q1276del 20 46279864 46279866 MDST8_LARGE_INT... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 MDST8_LARGE_INT... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFATC1 18 77287653 77287654 MDST8_LARGE_INT... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NLRP3 p.S667F 1 247588745 247588745 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NOS2 p.E320K 17 26107839 26107839 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc002gzu.2 NOS2_uc010crh.1... Hybrid_Cap... view
NPM1 5 170837734 170837734 MDST8_LARGE_INT... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 MDST8_LARGE_INT... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRK p.E528K X 105153215 105153215 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc004emd.2 NRK_uc010npc.1_... Hybrid_Cap... view
NSD1 p.V2618I 5 176722221 176722221 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
NTRK3 15 88522631 88522631 MDST8_LARGE_INT... 37 Intron SNP C T uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
ODZ1 p.R302Q X 123838973 123838973 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
OMD p.G42R 9 95179717 95179717 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc004asd.3 CENPP_uc004arz.... Hybrid_Cap... view
PAX3 2 223158653 223158653 MDST8_LARGE_INT... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDZRN4 12 41903543 41903543 MDST8_LARGE_INT... 37 Intron SNP C T uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PGGT1B 5 114548071 114548072 MDST8_LARGE_INT... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 MDST8_LARGE_INT... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHF3 p.R971L 6 64408425 64408425 MDST8_LARGE_INT... 37 Missense_Mutation SNP G T uc003pep.1 PHF3_uc010kah.1... Hybrid_Cap... view
PIK3C3 p.S368F 18 39584438 39584438 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc002lap.2 PIK3C3_uc010xcl... Hybrid_Cap... view
PIK3R4 p.G560E 3 130447435 130447435 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003enj.2 Hybrid_Cap... view
PIKFYVE p.V337F 2 209163462 209163462 MDST8_LARGE_INT... 37 Missense_Mutation SNP G T uc002vcz.2 PIKFYVE_uc010fu... Hybrid_Cap... view
PKDCC p.N320I 2 42281372 42281372 MDST8_LARGE_INT... 37 Missense_Mutation SNP A T uc002rsg.2 Hybrid_Cap... view
PKHD1 p.E1482K 6 51890164 51890164 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PLCG1 p.H552Y 20 39794321 39794321 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PLCG1 p.E785K 20 39796543 39796543 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PLD1 p.Q947* 3 171330112 171330112 MDST8_LARGE_INT... 37 Nonsense_Mutation SNP G A uc003fhs.2 PLD1_uc003fht.2... Hybrid_Cap... view
PPARG 3 12393053 12393053 MDST8_LARGE_INT... 37 5'UTR SNP A T uc003bwx.2 PPARG_uc003bwr.... Hybrid_Cap... view
PPARGC1A p.E72K 4 23886395 23886395 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003gqs.2 PPARGC1A_uc003g... Hybrid_Cap... view
PRCC 1 156770351 156770351 MDST8_LARGE_INT... 37 3'UTR SNP C T uc001fqa.2 PRCC_uc001fqb.2... Hybrid_Cap... view
PRKAR1A 17 66511531 66511531 MDST8_LARGE_INT... 37 Intron SNP G C uc002jhg.2 PRKAR1A_uc002jh... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 MDST8_LARGE_INT... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 MDST8_LARGE_INT... 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PTEN p.D310G 10 89720778 89720778 MDST8_LARGE_INT... 37 Missense_Mutation SNP A G uc001kfb.2 Hybrid_Cap... view
PXDN p.Q1027* 2 1652473 1652473 MDST8_LARGE_INT... 37 Nonsense_Mutation SNP G A uc002qxa.2 Hybrid_Cap... view
RELA p.G331_splice 11 65423234 65423234 MDST8_LARGE_INT... 37 Splice_Site_SNP SNP C T uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
RGL4 p.G394R 22 24039376 24039376 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc002zxn.2 LOC91316_uc002z... Hybrid_Cap... view
RIMS2 p.V525A 8 104940113 104940113 MDST8_LARGE_INT... 37 Missense_Mutation SNP T C uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 MDST8_LARGE_INT... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SGK223 p.E373K 8 8234802 8234802 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003wsh.3 Hybrid_Cap... view
SLC22A3 p.V494M 6 160864744 160864744 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc003qti.2 SLC22A3_uc011ef... Hybrid_Cap... view
SORL1 p.E348Q 11 121384861 121384861 MDST8_LARGE_INT... 37 Missense_Mutation SNP G C uc001pxx.2 Hybrid_Cap... view
STARD3 p.A233I 17 37815354 37815355 MDST8_LARGE_INT... 37 Missense_Mutation DNP GC AT uc002hsd.2 STARD3_uc010weh... Hybrid_Cap...
STK17A 7 43664445 43664445 MDST8_LARGE_INT... 37 3'UTR SNP A G uc003tih.2 C7orf44_uc003ti... Hybrid_Cap... view
STK31 p.D549N 7 23809307 23809307 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc003sws.3 STK31_uc003swt.... Hybrid_Cap... view
STK31 7 23872024 23872025 MDST8_LARGE_INT... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TESK1 p.R351W 9 35608909 35608909 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003zxa.2 TESK1_uc003zwz.... Hybrid_Cap... view
TESK1 p.S382L 9 35609003 35609003 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc003zxa.2 TESK1_uc003zwz.... Hybrid_Cap... view
TLE1 9 84202844 84202845 MDST8_LARGE_INT... 37 Intron Ins - CATCCC uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap...
TLK1 2 171850178 171850179 MDST8_LARGE_INT... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 MDST8_LARGE_INT... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMPO 12 98928162 98928162 MDST8_LARGE_INT... 37 3'UTR Del A - uc001tfh.1 TMPO_uc001tfi.1... Hybrid_Cap...
TNFRSF18 p.S186F 1 1139182 1139182 MDST8_LARGE_INT... 37 Missense_Mutation SNP G A uc001add.2 TNFRSF18_uc001a... Hybrid_Cap... view
TNIK p.Y323* 3 170879106 170879106 MDST8_LARGE_INT... 37 Nonsense_Mutation SNP G C uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TRIM33 1 114940215 114940216 MDST8_LARGE_INT... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRRAP p.K2015R 7 98553896 98553896 MDST8_LARGE_INT... 37 Missense_Mutation SNP A G uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTN p.E10139K 2 179542492 179542492 MDST8_LARGE_INT... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.T3713P 2 179600304 179600304 MDST8_LARGE_INT... 37 Missense_Mutation SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 MDST8_LARGE_INT... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...