Neutral     Damaging  

ChromosomeStartEndRefAltrsIDSNVfilter PredictionDamaging Probability1000Genome FrequencySIFT PredictionPolyphen HDIV PredictionPolyphen HVAR PredictionFATHMM PredictionFunctionGene SymbolTranscript IDExon NumbermRNA PosCodon NumResidue ChangeOMIMMGICell LinesTissue
chr110171701017170CGrs3766193N2.00732529265e-070.575479downstreamC1orf159
HEK-293testis
chr111036901103704TCCCCCACCCAACCTTCACCCCCACCCAACCTN0.00434041535482upstream,downstreamMIR429;MIR200A
chr11107257911072579TCrs968545N0.03910501301290.970048upstreamTARDBP
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATEDTAR DNA binding proteinHeLalymph node
chr11108609711086099ATGATTGN0.393596440554downstreamMASP2
TARDBP
chr11110743911107439GTrs7548659N4.87445986352e-110.574281upstreamMASP2
MASP2 DEFICIENCYmannan-binding lectin serine peptidase 2Hep-G2liver
chr11112656911126569CArs2791659N8.98268410765e-080.60603downstreamEXOSC10
exosome component 10HEK-293skin
chr111152101115213GGTGAGTTN1.95823145077e-065-UTRTTLL10
NM_153254 tubulin tyrosine ligase-like family, member 10SCLC-21Htestis
chr1115881055115881055GArs11102930N1.54829080112e-100.468051upstreamNGF
nerve growth factorU-2197ovary
chr1116916645116916647CTCCCN0.1001309603455-UTRATP1A1
NM_001160233 ATPase, Na+/K+ transporting, alpha 1 polypeptideSK-MEL-30kidney
chr11190043711900437TCrs198412N0.001659458735960.120008ncRNANPPA-AS1
chr11190606811906068AGrs5065N0.4866327941420.179113stoplossNPPA
NM_0061723454152X=>RSCLC-21Hheart muscle
chr11191892711918949TCTGCTGCTGCTGCTGCTGCTGCTCTGCTGCTGCTGCTGCTGCTGCTGCN0.1910350918775-UTRNPPB
NM_002521 natriuretic peptide type BCACO-2heart muscle
chr11194048311940483CTrs4846068N5.36796128381e-120.652955intergenic
chr1120088934120088934GArs1983726N4.35930530784e-070.835064intergenic
chr11207925712079257TCrs4846087N0.01161505840721upstreamMIIP
migration and invasion inhibitory proteinHDLM-2bone marrow
chr11278641712786420AGGCGGGTN0.0001535140763743-UTRAADACL3
NM_001103170 arylacetamide deacetylase-like 3BEWOplacenta
chr11373678013736780GCrs80222828N0.00111686997116upstreamPRAMEF20
SCLC-21Htestis
chr1145510376145510376AGrs1058534N0.0007444275543090.797125ncRNAGNRHR2
chr1146892465146892465AGrs2353970N9.2265679541e-090.970847ncRNALINC00624
chr1148756432148756432CArs75058536N0.449501574039ncRNANBPF25P
chr1149224410149224410CArs7551713N0.4866327941420.464657intergenic
chr1152189055152189055GCrs4845749N1.01979001632e-10NNNNnonsynonymous SNVHRNR
NM_001009931350501684R=>GhornerinNTERA-2skin
chr1152193544152193547ATGGATGAN0.00095346767921nonframeshift substitutionHRNR
NM_0010099313558 hornerinNTERA-2skin
chr1152193544152193547ATGGGTGAN0.00095346767921nonframeshift substitutionHRNR
NM_0010099313558 hornerinNTERA-2skin
chr1153589205153589222GTCTCTCTCTCTCTCTCAGTCTCTCTCTCTCTCTCTCTCAN0.406692832708upstreamS100A14
SK-BR-3esophagus
chr115519271551927TCrs7418389N0.001542703714220.477037NNNNnonsynonymous SNVMIB2
NM_001170687
NM_080875
NM_001170686
NM_001170688
2,2,2,2214,214,214,21472,72,72,72F=>L,F=>L,F=>L,F=>Lmindbomb homolog 2 (Drosophila)HeLaspleen
chr11557375815573758GArs1780597N0.4866327941420.199081upstreamFHAD1
forkhead-associated (FHA) phosphopeptide binding domain 1HMC-1testis
chr1155947875155947875AGrs928596N0.001503353822050.4488825-UTRARHGEF2
NM_004723 rho/rac guanine nucleotide exchange factor (GEF) 2SK-MEL-30lung
chr11561613915616139GArs486557N7.25154586689e-060.208067NNNNnonsynonymous SNVFHAD1
NM_0529294545182R=>Hforkhead-associated (FHA) phosphopeptide binding domain 1HMC-1testis
chr115660681566068AGrs28730454N7.91151760495e-05downstreamMIB2
mindbomb homolog 2 (Drosophila)HeLaspleen
chr11585270415852704TCrs4263990N0.0001258066622540.584465upstreamDNAJC16
DnaJ (Hsp40) homolog, subfamily C, member 16K-562kidney
chr11590989515909895AGrs6429758N1.78232753001e-070.612819intronicAGMAT
Hep-G2kidney
chr1159842088159842088TArs2494518N3.95285830734e-080.798522downstreamCFAP45
chr116082291608229CTrs61776790N0.0008151795482260.2645775-UTRSLC35E2B
NM_001110781
NM_001290264
SCLC-21Hovary
chr11625981316259813AGrs848210N3.81332192489e-080.648962NNNNnonsynonymous SNVSPEN
NM_0150011170782360N=>DSPEN homolog, transcriptional regulator (Drosophila)HEK-293ovary
chr11638902616389026TCrs2863458N1.63605345733e-050.298323DPPNnonsynonymous SNVFAM131C
NM_182623314248K=>Efamily with sequence similarity 131, member CA-549kidney
chr11646467316464673GArs2230597N2.80542855613e-090.349441nonsynonymous SNVEPHA2
NM_0044315987329Q=>HEph receptor A2PC-3esophagus
chr11647512316475126CAGCTAGTN0.00070842099376nonframeshift substitutionEPHA2
NM_0044313570 Eph receptor A2PC-3esophagus
chr11677674316776804GTTTTTTTTTGTTTTGTTTTGTTTTTTGTTTTGTTTTGTTGTTTTTTTTTTTTAGGCATTTCGTTTTTTTTTTGTTTTGTTTTGTTTTTTGTTTTGTTTTGTTGTTTTTTTTTTTTAGGCATTTTN0.486632794142intronicNECAP2
NECAP endocytosis associated 2Karpas-707lymph node
chr1168180219168180219GTrs10737540N4.24588542955e-050.494609intergenic
chr1169072936169072936CGrs932393N4.87139401314e-180.88119upstreamLOC101928596
chr11705454617054546TCrs2773193N0.486632794142intergenic
chr11709772217097722TCrs28469336N0.000340020022122intergenic
chr11739298017392980TCrs12134582N4.20492979174e-050.453075downstreamPADI2
peptidyl arginine deiminase, type IISK-BR-3colon
chr1179783922179783922TArs2236589N0.1700275987390.5119813-UTRFAM163A
NM_173509 family with sequence similarity 163, member ASH-SY5Ytestis
chr11802399718023999GCAGCCAD0.9001174569133-UTRARHGEF10L
NM_018125
NM_001011722
NM_001319837
NM_001328124
NM_001319838
Rho guanine nucleotide exchange factor (GEF) 10-likeHep-G2skin
chr1181151556181151556TCrs7538429N1.20009667626e-060.273363downstreamLOC101928973
chr118536151853617TCTTCTGACTN0.1076291501523-UTRCFAP74
NM_001304360
chr1197876533197876533CArs1546244N7.62153431424e-050.973442downstreamC1orf53
SCLC-21Hliver
chr1203322451203322462TAAAAAAACACTTAAAAAAAACACTN0.453100085258intergenic
chr120653392065343AGGGGGGGGCN1.11052067542e-09intronicPRKCZ
protein kinase C, zetaHep-G2cerebral cortex
chr12091517220915172CTrs532545N3.22052619595e-050.186102upstreamCDA
cytidine deaminaseSiHabone marrow
chr12091558920915595TCCCGCTTCCGCTN0.4866327941425-UTRCDA
NM_001785 cytidine deaminaseSiHabone marrow
chr12094525220945259GCCCCCTGGCCCCCCTGD0.9855108261113-UTRCDA
NM_001785 cytidine deaminaseSiHabone marrow
chr1209848432209848432GArs932374N0.002642286010090.602835ncRNALOC101930114
chr121308202130820GAN0.4866327941420.001397765-UTRFAAP20
NM_001282670
chr12190420621904206CTrs1697405N1.72366668494e-070.3366613-UTRALPL
NM_000478
NM_001127501
NM_001177520
ODONTOHYPOPHOSPHATASIAalkaline phosphatase, liver/bone/kidneySCLC-21Hkidney
chr12192199021921990CGrs829393N1.6195947361e-110.746006downstreamRAP1GAP
Rap1 GTPase-activating proteinA-549thyroid gland
chr12192945621929468GCCCCCCCCACATGCCCCCCCACATD0.722365140915intronicRAP1GAP
Rap1 GTPase-activating proteinA-549thyroid gland
chr1225653090225653090TCrs4653641N7.91893762653e-050.970447intergenic
chr1225991176225991176TGrs4653685N1.85773126304e-060.51877intergenic
chr1225997029225997029TCrs10737419N3.45252182399e-080.690895upstreamEPHX1
epoxide hydrolase 1, microsomalSiHaliver
chr1225997741225997741CArs12741681N0.4866327941420.620208upstreamEPHX1
epoxide hydrolase 1, microsomalSiHaliver
chr1226123389226123389GTrs1223234N7.02398361696e-090.977037downstreamLEFTY2
RPMI-8226uterus
chr1226818414226818414AGrs1288465N0.000539003405720.539736downstreamITPKB
inositol 1,4,5-trisphosphate 3-kinase BSK-MEL-30adipose tissue
chr1227622364227622364TCrs10916145N1.30013711441e-060.452875intergenic
chr12283274322832743ATrs209732N5.7322395719e-090.799121intronicZBTB40
zinc finger and BTB domain containing 40K-562lymph node
chr12283567722835677AGrs209729N8.34492652757e-090.822484NNNNnonsynonymous SNVZBTB40
NM_001083621
NM_014870
10,91784,1784595,595Y=>C,Y=>Czinc finger and BTB domain containing 40K-562lymph node
chr1228366526228366526AGrs6667424N0.006460771430280.9468853-UTRIBA57
NM_001010867
NM_001310327
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)SK-BR-3testis
chr12291575322915753TCrs606002N1.72690892697e-080.481829NNNNnonsynonymous SNVEPHA8
NM_00100694351369457S=>PEph receptor A8SCLC-21Hadrenal gland
chr12291597822915978ATrs521570N2.7287796911e-080.4798323-UTREPHA8
NM_001006943 Eph receptor A8SCLC-21Hadrenal gland
chr12292826522928265AGrs209700N1.08590150205e-080.6269973-UTREPHA8
NM_020526 Eph receptor A8SCLC-21Hadrenal gland
chr124395992439599CArs2494621N7.29462268367e-100.804712downstreamPANK4
pantothenate kinase 4SCLC-21Hspleen
chr12443459524434595TCrs11249170N7.8093751199e-070.702676intronicMYOM3
myomesin family, member 3Hep-G2heart muscle
chr1245318385245318385GCrs4658708N0.06074363365770.9386985-UTRKIF26B
NM_018012 kinesin family member 26BSH-SY5Yplacenta
chr1246971018246971018CGrs7517757N2.1761297625e-110.974042intergenic
chr1247615887247615887TCrs6665526N1.25912791304e-070.757987upstreamOR2B11
THP-1bone marrow
chr124778442477844CGN0.3161450922490.00299521intergenic
chr1247836494247836494TArs28607552N8.19372780825e-060.329473upstreamOR13G1
HMC-1testis
chr1248437247248437254GCCCTAACGCN0.0285982750356upstreamOR2T33
PC-3bone marrow
chr1248458676248458676TCrs6678138N5.61910237593e-05NNNNnonsynonymous SNVOR2T12
NM_001004692120569M=>VTHP-1adipose tissue
chr12557008125570081TCrs1043879N0.0005474688368850.107827DNNNexonicRSRP1
chr12684680426846804TCrs1975799N9.49256218519e-070.9377intergenic
chr12826165828261660TGATGGAN0.198963001375-UTRSMPDL3B
NM_001009568
NM_001304579
NM_014474
sphingomyelin phosphodiesterase, acid-like 3BBEWOcolon
chr12947413429474134ACrs2452782N3.15733528732e-120.720647downstreamSRSF4
HELbone marrow
chr12956207029562070AGrs2503006N2.40984491029e-070.717851upstreamPTPRU
protein tyrosine phosphatase, receptor type, UBEWOplacenta
chr13134574731345747CTrs3820088N0.0002740828203970.2296333-UTRSDC3
NM_014654 syndecan 3WM-115cerebral cortex
chr13173239031732390GArs6425725N6.70420099644e-120.98742downstreamSNRNP40
small nuclear ribonucleoprotein 40 (U5)NTERA-2lymph node
chr13208319332083193GCrs11807225N2.97923984744e-130.484824upstreamHCRTR1
hypocretin (orexin) receptor 1TIMEadrenal gland
chr13208327332083273GCrs12740754N4.0748044587e-160.35643upstreamHCRTR1
hypocretin (orexin) receptor 1TIMEadrenal gland
chr13208490432084904CTrs1056526N3.07621768059e-080.352835synonymous SNVHCRTR1
NM_001525311137R=>Rhypocretin (orexin) receptor 1TIMEadrenal gland
chr13209252532092525AGrs2271933N2.1960584462e-090.439696NNNNnonsynonymous SNVHCRTR1
NM_00152591222408I=>Vhypocretin (orexin) receptor 1TIMEadrenal gland
chr13209291832092920TTATTCCTAN1.51383085267e-063-UTRHCRTR1
NM_001525 hypocretin (orexin) receptor 1TIMEadrenal gland
chr13210055132100559GAAAAAGACGAAAAGACD0.809151649475intronicPEF1
HEK-293thyroid gland
chr13216549532165495GTrs2228552N1.2376537295e-100.427316NDPNnonsynonymous SNVCOL16A1
NM_001856418562T=>Kcollagen, type XVI, alpha 1U-2197ovary
chr133525033352503GCrs1537404N9.81046577309e-100.887383-UTRPRDM16
NM_199454
NM_022114
PR domain containing 16HEK-293stomach
chr13372155633721556GTrs12130266N1.52186263591e-080.951877upstreamZNF362
SH-SY5Yadipose tissue
chr133852503385250CArs1417897N3.14934879952e-070.515375intronicARHGEF16
Rho guanine nucleotide exchange factor (GEF) 16CAPAN-2duodenum
chr13526092935260929GArs3543N5.90913806775e-090.6555513-UTRGJA4
NM_002060 gap junction protein, alpha 4EFO-21placenta
chr135279443527944CGrs10797402N2.97182769929e-130.9367015-UTRMEGF6
NM_001409 multiple EGF-like-domains 6U-2197skin
chr135288413528841TCrs2794326N2.99431195171e-140.9375upstreamMEGF6
multiple EGF-like-domains 6U-2197skin
chr13531968135319681TCrs6697614N0.001938130240890.237223-UTRSMIM12
NM_001164824
NM_001164825
NM_001320261
NM_138428
HL-60adrenal gland
chr135390823539082AGrs10909989N6.9593202312e-090.78135intergenic
chr13661566936615669GArs2231304N0.09355285763740.996006intronicTRAPPC3
HEK-293thyroid gland
chr13795945037959450TCrs215210N8.52548623698e-070.7304313-UTRMEAF6
NM_001270875
NM_022756
SCLC-21Hprostate
chr13800635938006359AGrs2174769N2.2111078124e-060.722045intronicSNIP1
Smad nuclear interacting protein 1NTERA-2bone marrow
chr13802245238022452CArs2273014N0.4866327941420.400559upstreamDNALI1
SH-SY5Ytestis
chr13803069638030696TCrs6619N2.78468951365e-060.4109423-UTRDNALI1
NM_003462 SH-SY5Ytestis
chr13804937338049373CTrs3753372N0.001201760838740.411142intronicGNL2
guanine nucleotide binding protein-like 2 (nucleolar)U-698bone marrow
chr13805286738052911CAAAAAAAAAAAAACAAAAACAAAGAAGCAAAAAAAAAAATGTACCAAAAAAAAAAAAAACAAAAACAAAGAAGCAAAAAAAAAAATGTACD0.745311737061intronicGNL2
guanine nucleotide binding protein-like 2 (nucleolar)U-698bone marrow
chr13807830038078300AGrs4652964N1.65923438544e-060.468653-UTRRSPO1
NM_001038633
NM_001242908
NM_001242909
NM_001242910
R-spondin homolog (Xenopus laevis)HeLauterus
chr13973459839734598GCrs16826022N1.22349769205e-110.0974441DDintronicMACF1
microtubule-actin crosslinking factor 1TIMElung
chr14342451943424519TGrs11537640N0.4866327941420.2320295-UTRSLC2A1
NM_006516 solute carrier family 2 (facilitated glucose transporter), member 1CACO-2placenta
chr14391664243916642TCrs6954N1.32428930044e-080.5848643-UTRSZT2
NM_015284 seizure threshold 2THP-1skin
chr14391941343919413AGrs6692611N0.06067108735440.595847NNNNnonsynonymous SNVHYI
NM_031207
NM_001243526
NM_001190880
1,1,152,52,5218,18,18S=>P,S=>P,S=>Phydroxypyruvate isomerase homolog (E. coli)CAPAN-2ovary
chr14412596244125970CAAAAAGGTCAAAAGGTD0.878279864788nonframeshift substitutionKDM4A
NM_0146634315 lysine (K)-specific demethylase 4ATHP-1duodenum
chr14458433744584346GTGGCTGGCTGTGGCTN0.00494333729148upstreamKLF17
Kruppel-like factor 17U-138-MGtestis
chr14510147845101478TCrs2236219N0.0001534104812890.376398intronicRNF220
ring finger protein 220NTERA-2cerebral cortex
chr14546724445467244GTrs6690606N1.12761405546e-070.983227downstreamHECTD3
HECT domain containing 3SK-BR-3duodenum
chr14666029546660295TCrs2292487N5.83141400057e-070.333466Dsynonymous SNVPOMGNT1
NM_001290130
NM_001290129
NM_017739
NM_001243766
7,7,8,8252,615,681,68184,205,227,227K=>K,K=>K,K=>K,K=>KMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3protein O-linked mannose beta1,2-N-acetylglucosaminyltransferaseU-251-MGheart muscle
chr14765581647655816AGrs2248907N3.90591720209e-130.865216upstreamPDZK1IP1
PDZK1 interacting protein 1EFO-21kidney
chr14790633847906338GArs2820966N2.11513966064e-110.9890183-UTRFOXD2
NM_004474 WM-115colon
chr14790642547906425GArs2622916N6.31198560086e-090.989018downstreamFOXD2
WM-115colon
chr14870783848707838AGrs705430N2.19195026574e-080.981629intronicSLC5A9
solute carrier family 5 (sodium/glucose cotransporter), member 9Hep-G2duodenum
chr15586393255863932ACrs2802855N5.90053339522e-090.988019intergenic
chr16192118561921205ATTTTTTTTTTTTTAAAATACATTTTTTTTTTTTTTAAAATACN0.4900085926063-UTRNFIA
NM_001145511
NM_001145512
NM_001134673
NM_005595
nuclear factor I/AAN3-CAthyroid gland
chr16192118561921205ATTTTTTTTTTTTTAAAATACATTTTTTTTTTTTTTAAATACN0.225258573893-UTRNFIA
NM_001145511
NM_001145512
NM_001134673
NM_005595
nuclear factor I/AAN3-CAthyroid gland
chr16291785762917857GArs597078N2.21850385174e-070.438898downstreamUSP1
ubiquitin specific peptidase 1RH-30testis
chr16291786562917865TArs597076N4.9594518714e-070.435703downstreamUSP1
ubiquitin specific peptidase 1RH-30testis
chr1761957761959ACTATCTN0.275072574615ncRNALINC00115
chr1762589762592GGCCCGCGN0.167329534888ncRNALINC00115
chr17637835976378376ATTTTTTTTTTTTCAATGATATATTTTTTTTCAATGN0.000778348185122intronicMSH4
mutS homolog 4 (E. coli)AN3-CAtestis
chr180870648087067CTGTCTGTGTN3.5262611575e-16upstreamERRFI1
ERBB receptor feedback inhibitor 1Hep-G2liver
chr1812267812267AGrs7541694N1.00694497185e-091upstreamFAM41C
chr182773158277322CGGGGCGACGGGCGAD0.859944581985intergenic
chr183351558335155TCrs12753024N3.50964882045e-070.69389intergenic
chr183360328336032CTrs409822N8.38113578538e-090.942292intergenic
chr1852133852133CTrs7518702N6.35132181223e-120.728834downstreamLOC100130417
chr1895706895706GArs13303327N1.56434743985e-050.636382upstreamKLHL17
kelch-like 17 (Drosophila)HeLaskin
chr1909309909309TCrs3829738N2.49297590926e-060.254193NNNNnonsynonymous SNVPLEKHN1
NM_001160184
NM_032129
13,141426,1531476,511S=>P,S=>Ppleckstrin homology domain containing, family N member 1HaCaTskin
chr19199964091999640AGrs595801N4.51245929511e-100.988219intergenic
chr1930567930567AGrs3121574N2.63261645159e-050.371805intergenic
chr1935715935715CTrs3128114N2.59794960584e-050.132188upstreamHES4
HEK-293adipose tissue
chr1943687943687GCrs2465140N3.636312249e-050.296126intergenic
chr19438678094386780GCrs7526920N6.5873081212e-080.785144intergenic
chr1949608949608GArs1921N4.24215301775e-100.338858NNNNnonsynonymous SNVISG15
NM_005101224883S=>NISG15 ubiquitin-like modifierHeLasalivary gland
chr194981139498113TCrs9660890N0.0002266488590980.335663intergenic
chr19555722095557220CTrs6690421N9.64913579082e-060.470647upstreamTMEM56
RH-30liver
chr19838737598387392CCCCCCCCCCACCCCTGTCGCCCCCCCCCACCCCTGTN0.0398621074855upstreamDPYD
dihydropyrimidine dehydrogenaseU-138-MGgallbladder
chr1987200987200CTrs9803031N6.69532118991e-060.788738intronicAGRN
MYASTHENIC SYNDROME, CONGENITAL, WITH PRE- AND POSTSYNAPTIC DEFECTSagrinHaCaTkidney
chr19912720599127205AGrs12723363N0.260710358620.865216upstreamSNX7
SH-SY5Ycolon
chr199883009988300GArs3013783N0.0005717749008910.5275563-UTRLZIC
NM_001316973
NM_001316974
NM_001316976
NM_032368
leucine zipper and CTNNBIP1 domain containingK-562testis
chr10101689378101689378GCrs7077718N3.87775713762e-070.486821exonicDNMBP
dynamin binding proteinTIMEsmall intestine
chr10102587574102587574TCrs12098288N5.88263517898e-080.37483-UTRPAX2
NM_001304569
NM_000278
NM_003987
NM_003988
NM_003989
NM_003990
PAPILLORENAL SYNDROMEpaired box gene 2EFO-21kidney
chr10102770082102770082TGrs807023N1.55784014161e-110.772963nonsynonymous SNVPDZD7
NM_001195263152564855N=>TPDZ domain containing 7THP-1small intestine
chr10102901616102901616TCrs7086378N1.23920145256e-070.873403upstreamTLX1NB
BEWOspleen
chr10102954338102954338GCrs792728N5.64467512731e-080.621805downstreamLINC01514
chr10103070725103070725CArs676307N1.4312481686e-230.961462intergenic
chr10103330171103330171CTrs3127248N0.01014407724140.743411intergenic
chr10103536199103536199TGrs2735427N6.45951586193e-050.998003intronicFGF8
fibroblast growth factor 8RH-30cerebral cortex
chr10104235799104235823GTTTTTTTTGGTTTTTTTTTTAAGGGTTTTTTTTTGGTTTTTTTTTTAAGGN0.2145295143133-UTRMFSD13A
NM_024789
chr10104404335104404335ATrs4146426N0.1402403563260.1148165-UTRTRIM8
NM_030912 EFO-21kidney
chr10105253930105253931CTTCN2.06556046578e-06ncRNANEURL1-AS1
chr10105726338105726338TCrs6584583N4.74048101751e-050.83107upstreamSLK
STE20-like kinaseRT-4esophagus
chr10114059330114059351TCTCTGTTTTCCTCTGTTTTCCTCTCTGTTTTCCN0.133856862783intronicTECTB
tectorin betaHep-G2liver
chr10114186624114186624GArs2256368N2.0851713689e-090.963858intronicACSL5
acyl-CoA synthetase long-chain family member 5CAPAN-2small intestine
chr10115515120115515120GArs3981351N4.77087738204e-080.6912945-UTRPLEKHS1
NM_001193434
NM_001193435
RT-4salivary gland
chr10115540652115540652CTrs3750900N0.01649340987210.349843-UTRPLEKHS1
NM_001193434
NM_001193435
NM_024889
RT-4salivary gland
chr10120692835120692835CTrs10787881N1.68274034706e-080.557907intergenic
chr1012240961224098GATGAATN0.0169759802523-UTRADARB2
NM_018702 adenosine deaminase, RNA-specific, B2HDLM-2cerebral cortex
chr10124595874124595898GAAAAAAAAAAAAAAAAGAATGGTCGAAAAAAAAAAAAAAAGAATGGTCN0.000272255856544ncRNAFAM24B-CUZD1
chr10126480556126480556TCrs10901821N0.4866327941420.725839upstreamMETTL10
methyltransferase like 10A-431testis
chr10134020093134020093GArs2818416N8.98345263067e-070.84345downstreamDPYSL4
STK32C
chr10135091981135091981AGrs1005806N0.0009079225128520.903155downstreamTUBGCP2
tubulin, gamma complex associated protein 2U-87-MGovary
chr10135150600135150600TGrs35297981N8.26806993096e-130.904353upstreamCALY
SH-SY5Ycerebral cortex
chr10135469915135469915GArs28629252N0.00123549206182intergenic
chr101505886215058895GAAAAAAAAAAAAAAAAAAAAAGAATGAACAGTCGAAAAAAAAAAAAAAAAAAAGAATGAACAGTCN0.00677663553506intergenic
chr101525619415256194GArs3814165N5.39498478247e-060.124201NPPNnonsynonymous SNVFAM171A1
NM_00101092481393465P=>Sfamily with sequence similarity 171, member A1TIMEcerebral cortex
chr101715615117156151AGrs1801222N0.4866327941420.799321NNNDnonsynonymous SNVCUBN
NM_0010818758253F=>Scubilin (intrinsic factor-cobalamin receptor)AN3-CAkidney
chr101717222117172221TArs7923464N8.56838869367e-060.748403upstreamCUBN
cubilin (intrinsic factor-cobalamin receptor)AN3-CAkidney
chr101764581417645814CTrs2252808N1.77562711201e-080.605232intronicHACD1
chr101883479718834820TAAAAAAAAAAAAACCACAGACAGTAAAAAAAAAAAACCACAGACAGN0.1000644788153-UTRNSUN6
NM_182543 NOL1/NOP2/Sun domain family member 6K-562liver
chr101894829818948306TGGAGAGGCTGAGAGGCN0.486632794142upstreamARL5B
ADP-ribosylation factor-like 5BHep-G2adrenal gland
chr102008152820081528CGrs10764159N1.49581546793e-050.596645intergenic
chr102483150524831505GCrs867040D0.9039975404740.213858intronicKIAA1217
BEWOadipose tissue
chr102686824026868240TArs79933479N0.000906174129341upstreamLOC101929117
chr102715808127158081ACrs2505965N6.05272212559e-120.98103intergenic
chr102715812527158132CCTCCTACCCN4.72861538583e-05intergenic
chr102715812527158132CCTCCTACCCTCCTCCN3.35018376063e-06intergenic
chr102743629527436295ACrs3780926N7.16032764103e-060.397165intronicYME1L1
YME1-like 1 (S. cerevisiae)RH-30thyroid gland
chr102744430327444303GArs3824593N0.006750588770960.3971655-UTRMASTL
NM_001172303
NM_001172304
NM_001320756
NM_001320757
NM_032844
microtubule associated serine/threonine kinase-likeRH-30bone marrow
chr102744432827444329CTACN0.06811931729325-UTRMASTL
NM_001172303
NM_001172304
NM_001320756
NM_001320757
NM_032844
microtubule associated serine/threonine kinase-likeRH-30bone marrow
chr102753623227536232AGrs1144511N1.10164796752e-060.401558ncRNALRRC37A6P
chr102753950727539507CTrs7896532N6.28571328321e-080.521366ncRNALRRC37A6P
chr102754173027541730CTrs495920N0.05971163511280.980631upstreamLRRC37A6P
chr102770323427703234AGrs7071851N1.79321844485e-070.4600645-UTRPTCHD3
NM_001034842 patched domain containing 3A-431testis
chr102837875828378758TCrs2997211N0.001766349538230.931709NNNNsynonymous SNVMPP7
NM_17349614965322S=>Smembrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)CACO-2esophagus
chr102895785428957854TCrs11007191N0.0028040970210.264377intergenic
chr103066358230663582TCrs2251778N3.58942387498e-160.990216intergenic
chr1031797033179703CTrs4881107N0.3368020653720.432308downstreamPFKP
PITRM1
chr1031803433180343AGrs2388559N4.10949860452e-060.480831intronicPITRM1
pitrilysin metallepetidase 1U-2197testis
chr103510456835104568CGrs117338311N0.004692890215670.199081upstreamPARD3
PARD3-AS1
chr103723457537234576AGCCN8.4540064563e-05intergenic
chr103898958638989586AGN0.00102226261515upstreamACTR3BP5
chr104264570942645709AGrs74793214N2.29689539992e-05intergenic
chr104277441042774410GTrs140348669N0.00633982848376intergenic
chr104326588043265880GCrs947549N1.02737578445e-080.875799downstreamLOC105378269
chr104478960244789602GArs809601N7.86018894416e-090.8995613-UTRC10orf142
NM_001258000
chr104921855349218553TCrs77581903N0.027032142505ncRNAAGAP12P
chr105154922151549224GCTGGCTCTGN0.00371494307183intronicTIMM23B
U-937testis
chr1051642655164267TGCTGCAAGCN0.0211813263595intergenic
chr1051642765164276ACrs12775468N3.82994898018e-070.884784intergenic
chr105835561258355635GTTTTTTTTTTTTTTTTTGGCATGGTTTTTTTTTTTTTTTGGCATGN0.041888192296intergenic
chr105835561258355635GTTTTTTTTTTTTTTTTTGGCATGGTTTTTTTTTTTTTTTTGGCATGN0.041888192296intergenic
chr1061883386188338AGrs7074082N3.90993790234e-070.3168935-UTRPFKFB3
NM_001282630 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3A-549adipose tissue
chr107102702971027029AGrs4746832N6.00576868237e-070.9906153-UTRHKDC1
NM_025130 hexokinase domain containing 1CAPAN-2duodenum
chr107133742971337429AGrs2812544N9.810498941e-110.948882intergenic
chr107257525972575272TGGGGGGGGGCAGTTGGGGGGGGCAGTN0.00234867888503upstreamSGPL1
sphingosine phosphate lyase 1RT-4urinary bladder
chr108828177988281779TCrs1917161N0.4866327941420.816893upstreamWAPL
chr108842575488425754AGrs2736687N3.0907307963e-130.9986023-UTROPN4
NM_001030015
NM_033282
opsin 4 (melanopsin)U-138-MGcerebral cortex
chr108842807688428076ATrs2675692N2.89149565402e-100.828075upstreamLDB3
MYOPATHY, MYOFIBRILLAR, 4LIM domain binding 3SCLC-21Hheart muscle
chr108872349488723494AGrs2131395N9.77078769455e-130.997604downstreamSNCG
CAPAN-2adipose tissue
chr108962390189623901GCrs2943772N0.004498958587651nonsynonymous SNVPTEN
NM_001304717219465C=>SKarpas-707adipose tissue
chr109275396792753967CTrs7917186N5.48375169274e-070.988019intergenic
chr1094076189407618CTrs2783057N7.55532425956e-070.784744intergenic
chr1094078109407810TCrs55826330N6.37510424895e-070.784545intergenic
chr1094078159407821TTTCTCCTTCCN0.00835019070655intergenic
chr1094079069407906GArs2783056N4.05009245696e-070.784545intergenic
chr109525627595256275GArs1880263N0.01740047894420.310503upstreamCEP55
centrosomal protein 55A-431testis
chr109652236596522365TCrs4986894N0.0003960106405430.21905upstreamCYP2C19
MEPHENYTOIN, POOR METABOLISM OFCACO-2liver
chr109881931798819317AGrs2817676N1.00606438735e-080.605032DNNNintronicSLIT1
slit homolog 1 (Drosophila)MOLT-4cerebral cortex
chr109909443699094436GArs1890966N1.85342546866e-100.3182915-UTRFRAT2
NM_012083 U-937duodenum
chr109933081399330813AGrs10748705N3.19873056333e-150.981433-UTRUBTD1
NM_024954 PC-3testis
chr11100814609100814609GTrs618155N9.1009294545e-100.915535intronicARHGAP42
Rho GTPase activating protein 42CAPAN-2placenta
chr1110278111027811CTrs7481521N3.58990400855e-050.396965NDPNnonsynonymous SNVMUC6
NM_005961161855619V=>Mmucin 6, gastricSCLC-21Hstomach
chr11105007547105007547CTrs1503393N3.81811808836e-080.958466downstreamCARD18
U-2-OSskin
chr1110810741081074TCrs41411848N1.12697504662e-080.36262nonsynonymous SNVMUC2
NM_002457111370457V=>Amucin 2
chr1110811511081151TCrs41464048N7.75717268198e-080.369808intronicMUC2
mucin 2
chr1110817571081757GCrs57737240N1.15544462886e-080.367013nonsynonymous SNVMUC2
NM_002457131685562S=>Tmucin 2
chr111139872511398725TCrs12290003N0.002413673093540.0579073intronicGALNT18
HaCaTthyroid gland
chr11117709754117709754CTrs564989N4.11563334524e-080.636382intronicFXYD6
FXYD6-FXYD2
chr11118302901118302901TCrs510997N0.01262864656750.277157intergenic
chr11119038913119038913TGrs10790285N6.46600557385e-141upstreamNLRX1
NLR family member X1EFO-21esophagus
chr11121233907121233907AGrs11218274N1.86117867997e-050.532748intergenic
chr111230195712301957AGrs2403609N4.11695246783e-080.811502intergenic
chr111231518612315186GArs10741578N3.80411108836e-070.533746NNNNnonsynonymous SNVMICALCL
NM_032867320870V=>IMICAL C-terminal likeRT-4skin
chr111253470712534707GArs2243707N1.27748744916e-090.750799intronicPARVA
parvin, alphaTIMEuterus
chr11133670275133670275GArs35223779N1.58976999955e-050.340056ncRNALOC646522
chr11133901854133901854AGrs608838N4.08961087217e-100.637181upstreamLOC100128239
chr11134117015134117015TCrs492761N1.10308828738e-080.9253193-UTRVPS26B
NM_052875 MOLT-4skin
chr1114819301481930AGrs4963048N0.000321097206324NNNNnonsynonymous SNVBRSK2
NM_001256630
NM_001256627
20,202278,760,2188,730760,730T=>A,T=>ABR serine/threonine kinase 2SCLC-21Hpancreas
chr1114910961491096GArs9440N2.63425503633e-090.5483233-UTRMOB2
NM_053005
NM_001172223
MOB kinase activator 2CAPAN-2skin
chr1115083531508353AGrs1609986N2.1003110362e-070.940296upstreamMOB2
MOB kinase activator 2CAPAN-2skin
chr1116500471650047TCrs1021345N1.08014774014e-050.221645upstreamKRTAP5-5
SH-SY5Ygallbladder
chr111774099117741001ACCCCCCCAAGACCCCCCCCAAGN0.142152503133upstreamMYOD1
myogenic differentiation 1RH-30prostate
chr111775621317756213GArs28724581N0.4866327941420.43131intergenic
chr111802230518022309TCACATAD0.830316185951intronicSERGEF
secretion regulating guanine nucleotide exchange factorHep-G2thyroid gland
chr111806397718063977ATrs623580N4.67582685815e-060.60643intergenic
chr111812755818127573CCGGCGGCGGCGGCGACCGGCGGCGGCGGCGGCGAN0.486632794142nonframeshift substitutionSAAL1
NM_138421116 Daudilymph node
chr111823174918231749TGrs2468789N7.40697316814e-070.880391ncRNALOC494141
chr111825317618253176CTrs2460827N2.23688061851e-070.880591NNNNnonsynonymous SNVSAA2-SAA4
SAA4
NM_001199744
NM_006512
6,4500,266167,89C=>Y,C=>Y
chr1118481711848178GCCCCCAGGCCCCCCAGN0.00117278390098intergenic
chr111865606218656062GCrs7943121N0.4866327941420.469449upstreamSPTY2D1
SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)Karpas-707bone marrow
chr111874318018743180CGrs10832975N0.0001024939701890.360024NNNNnonsynonymous SNVIGSF22
NM_173588428094A=>PAN3-CAkidney
chr111874795918747959TCrs4237729N1.21100178774e-080.76258upstreamIGSF22
AN3-CAkidney
chr1118878061887806TArs7938342N4.88137118282e-070.624401NPNNnonsynonymous SNVLSP1
NM_001242932210234H=>Qlymphocyte specific 1HDLM-2spleen
chr111916785019167850AGrs2271001N1.54195231516e-060.607628NNNNnonsynonymous SNVZDHHC13
NM_019028329699K=>Rzinc finger, DHHC domain containing 13HaCaTesophagus
chr112354150623541506AGrs11027275N1.14531193418e-080.709665intergenic
chr11295006295006CGrs2242564N7.24198798707e-060.2515973-UTRPGGHG
NM_025092
chr11295670295670GArs7104019N9.81245875664e-080.6509583-UTRPGGHG
NM_025092
chr1130788853078885TGrs384490N0.4866327941420.40655upstreamCARS
cysteinyl-tRNA synthetaseKarpas-707thyroid gland
chr1132472603247260CGrs7483030N2.88552515215e-090.995208intergenic
chr113372248333722485TCGTGCGN0.113582283258upstreamC11orf91
HeLatestis
chr1133813693381369GCrs62619253N5.55517708656e-130.223842DNNNnonsynonymous SNVZNF195
NM_001130520
NM_001130519
NM_001256825
NM_001242843
NM_001242841
NM_007152
NM_001256824
NM_001242842
6,5,5,5,6,4,6,6869,800,665,665,812,653,758,734290,267,222,222,271,218,253,245P=>R,P=>R,P=>R,P=>R,P=>R,P=>R,P=>R,P=>RNTERA-2lymph node
chr1134437733443773AGrs7124571N0.08653512597080.6252intergenic
chr1134446083444608GArs11027128N2.47461393883e-050.414337intergenic
chr1134446413444641GCrs11027129N0.0003868077765220.409545intergenic
chr11391748391748TArs6598026N4.13630805269e-050.539736upstreamPKP3
plakophilin 3HaCaTskin
chr11406043406043GArs7947N1.78726350668e-130.906749NNNNsynonymous SNVSIGIRR
NM_021805
NM_001135054
NM_001135053
10,10,101086,1086,1086362,362,362V=>V,V=>V,V=>Vsingle immunoglobulin and toll-interleukin 1 receptor (TIR) domainCAPAN-2spleen
chr114525507545255075GCrs3740783N9.99842450256e-060.7915343-UTRPRDM11
NM_001256695 PR domain containing 11U-138-MGthyroid gland
chr114525782345257823GCrs7395987N3.30193685727e-081intergenic
chr114593101945931019CArs11600112N4.9362613606e-130.695887downstreamPEX16
PEROXISOME BIOGENESIS DISORDER 8Bperoxisomal biogenesis factor 16U-266/70duodenum
chr1147397844739784CTrs4910666N3.16944933729e-050.40615intergenic
chr114991337449913374GArs10839438N1.58227546621e-080.685903intergenic
chr114991533549915339GGGCCCGGCTN0.00101311097387intergenic
chr114991534449915344GArs4881625N2.18956074605e-070.686502intergenic
chr1151992225199222ACrs7924390N1.75491692289e-080.718051intergenic
chr1151993405199342AATAATGCCCATN0.00354923936538intergenic
chr11531514531514TCrs11246174N2.10557254832e-060.241414downstreamHRAS
SCLC-21Hskin
chr1153451285345128GArs10837814N1.84666873793e-070.44349DDDNnonsynonymous SNVOR51B2
NM_0331801400134L=>F
chr1154440615444061GArs2736586N8.91675969172e-120.453674NNNNnonsynonymous SNVOR51Q1
NM_0010047571631211V=>MRT-4adipose tissue
chr1154443535444353TCrs2647573N3.35259180417e-080.453674DNNNnonsynonymous SNVOR51Q1
NM_0010047571923308F=>SRT-4adipose tissue
chr115503837555038375TCrs3213870N3.44199338542e-060.5818693-UTRTRIM48
NM_024114 SK-MEL-30skin
chr115568211155682111TGrs2940752N5.76341072644e-080.996805upstreamOR5W2
A-431adipose tissue
chr1161298376129837CTrs1462983N1.30898003547e-090.503994NDDNnonsynonymous SNVOR56B4
NM_0010051811829277P=>SU-266/84appendix
chr116261900062619000CGrs524891N0.05369109660390.9998downstreamSNHG1
chr1163423296342329TGrs1488864N0.4866327941420.777356upstreamPRKCDBP
WM-115testis
chr116401294964012962TGGGGGGGGGAGCTTGGGGGGGGAGCTN0.161012083292intronicPPP1R14B
PC-3skin
chr116409178264091782TCrs604493N1.11261595492e-080.935304intergenic
chr116574821565748215TCrs9666939N4.59005136122e-080.945288downstreamSART1
squamous cell carcinoma antigen recognized by T cells 1MCF-7bone marrow
chr1166627456662770CCAGCAGCAGCAGCAGCAGCAGCAGCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCN0.000126629762235nonframeshift substitutionDCHS1
NM_003737275 dachsous 1 (Drosophila)SH-SY5Yuterus
chr116737822967378229TGrs3016861N5.62330892961e-090.957668intronicNDUFV1
NADH dehydrogenase (ubiquinone) flavoprotein 1RPMI-8226heart muscle
chr116738035567380355TCrs7947114N1.41198983061e-100.951877downstreamDOC2GP
NDUFV1
chr116738355767383557CTrs56092845N2.42087789815e-080.441693upstreamDOC2GP
chr116742149667421496CTrs2514023N7.55415552334e-090.978435intergenic
chr116743026467430264AGrs1551885N4.04434459256e-080.9400963-UTRALDH3B2
NM_000695
NM_001031615
MCF-7skin
chr116876764368767643TCrs1249581N2.99708369234e-100.932508intergenic
chr116928203669282036CArs3740643N5.67375444405e-080.558107intergenic
chr116992422669924226CTrs2509134N7.68012942132e-090.840655upstreamANO1
anoctamin 1, calcium activated chloride channelHaCaTsalivary gland
chr117021754770217547CAD0.940528988838intronicPPFIA1
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1A-431testis
chr117021754770217547CGrs10898970D0.940528988838intronicPPFIA1
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1A-431testis
chr11709401709401AGrs10902202N3.86121740803e-070.3492415-UTREPS8L2
NM_022772 EPS8-like 2SK-BR-3small intestine
chr117149763171497631CTrs7112161N0.03737061470750.453474upstreamFAM86C1
RPMI-8226thyroid gland
chr117154917471549174GArs7107929N5.08641414854e-060.576278downstreamDEFB108B
NB-4adipose tissue
chr11722202722202GCrs9734804N5.42918066461e-140.302915intronicEPS8L2
EPS8-like 2SK-BR-3small intestine
chr1176866027686607GTGTTAGTGTTTGTTAN0.000685683102347frameshift substitutionCYB5R2
NM_001302826
NM_016229
9,9829,829 cytochrome b5 reductase 2WM-115testis
chr1179281087928108CTrs4758252N1.47925602323e-100.938898upstreamLOC283299
chr1179619317961931AGrs7942511N3.52634003775e-070.396765upstreamOR10A3
A-431skin
chr118295933882959379TACACACACACACACACACACACACACACACACACACACACTTACACACACACACACACACACACACACACACACACACTD0.7213470339783-UTRANKRD42
NM_001300975
NM_182603
ankyrin repeat domain 42U-2197testis
chr118299698682996986ACrs494791N0.4866327941420.677716NNNNnonsynonymous SNVCCDC90B
NM_02182513010F=>Lcoiled-coil domain containing 90BU-2197testis
chr11840319840319CTrs3059N0.2473215311770.6409743-UTRPOLR2L
NM_021128 PC-3adipose tissue
chr11842627842630TTCCCTCTN0.486632794142upstreamPOLR2L
TSPAN4
chr11842682842682AGrs9704919N0.001429841155190.645966upstreamPOLR2L
TSPAN4
chr1184965168496516GArs2289923N7.02115926288e-070.5467255-UTRSTK33
NM_001289061
NM_030906
serine/threonine kinase 33HEK-293testis
chr118552233285522332GArs2044392N0.2581923007970.372604upstreamSYTL2
synaptotagmin-like 2RH-30stomach
chr1187039738703975GCAGCCAN0.486632794142upstreamRPL27A
ribosomal protein L27AHEK-293ovary
chr118994650289946526CAAAAAAAAAAAAAAAAATCACCTTCAAAAAAAAAAAAAAATCACCTTD0.530489087105intronicCHORDC1
cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1CACO-2lymph node
chr1193014459301445GArs7358392N1.07072564788e-050.403954downstreamTMEM41B
transmembrane protein 41BCAPAN-2duodenum
chr1193363219336321GArs4420270N0.4866327941420.540136upstreamTMEM41B
transmembrane protein 41BCAPAN-2duodenum
chr119386157093861570CTrs72968791N0.04527750238780.0615016upstreamPANX1
pannexin 1HaCaTurinary bladder
chr12101779964101779964TCrs4764794N1.34447430966e-080.8917733-UTRUTP20
NM_014503 UTP20, small subunit (SSU) processome component, homolog (yeast)NTERA-2testis
chr12101801695101801695GArs4764796N0.4866327941420.484824upstreamARL1
RT-4thyroid gland
chr12101988774101988774GTrs1697477N4.15089213002e-100.1637385-UTRMYBPC1
NM_001254718
NM_001254719
NM_001254720
NM_001254721
NM_001254722
NM_001254723
NM_002465
NM_206819
NM_206820
NM_206821
myosin binding protein C, slow-typeRT-4prostate
chr1210224521022452CTrs1051669N5.08640914632e-060.2547923-UTRRAD52
NM_001297421
NM_134424
NM_001297419
RAD52 homolog (S. cerevisiae)HDLM-2ovary
chr12104124018104124018ACrs17034433N0.0006904467009010.0672923NNNNnonsynonymous SNVSTAB2
NM_0175644952071736N=>Tstabilin 2BEWOspleen
chr12104235023104235023ACrs11111809N0.4866327941420.354633upstreamNT5DC3
5'-nucleotidase domain containing 3K-562bone marrow
chr12104237512104237512TCrs1370784N1.61018233484e-050.355831downstreamTTC41P
chr12104254932104254932GArs11111817N0.0002683889179020.45607ncRNATTC41P
chr12105260365105260394TAAAAAAAAAAAAAAAAAGAGAGACAACATTAAAAAAAAAAAAAAAAGAGAGACAACATN0.000717563903891intronicSLC41A2
solute carrier family 41, member 2HDLM-2liver
chr12105629865105629865CGrs1196785N0.4866327941420.6301925-UTRAPPL2
NM_001251904
NM_018171
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2U-138-MGcolon
chr121070426410704264AGrs10734837N3.99300326137e-090.893371intergenic
chr12108297673108297673GCrs7980811N0.4866327941420.260383upstreamLOC728739
chr12108676498108676498ACrs10746122N8.91401796821e-090.788339intergenic
chr12108687449108687476GAAAAAAAAAAAAAAAAAAGCAGCAATTGAAAAAAAAAAAAAAAAAGCAGCAATTN0.105125792325intronicCMKLR1
chemokine-like receptor 1RPMI-8226spleen
chr12108687449108687476GAAAAAAAAAAAAAAAAAAGCAGCAATTGAAAAAAAAAAAAAAAAGCAGCAATTN0.105125792325intronicCMKLR1
chemokine-like receptor 1RPMI-8226spleen
chr12109458559109458578ACCCCCCCCCACCCCCCTTGACCCCCCCCCCCACCCCCCTTGN0.486632794142intronicSVOP
SV2 related proteinSCLC-21Hcerebral cortex
chr12110318261110318261GCrs71458309N0.4866327941420.2428125-UTRGLTP
NM_016433 RT-4skin
chr121120196211201962TCrs2597987N6.09948225261e-090.971446ncRNAPRH1-PRR4
chr12112599061112599063TGCTGCACTGGGGCD0.9419531226163-UTRHECTD4
NM_001109662 NB-4bone marrow
chr121154452411544531TTTTTCCATATTTCCCAN0.1476026624443-UTRPRB2
NM_006248 CAPAN-2salivary gland
chr12121341849121341849AGrs2686458N0.04257398098710.9608635-UTRSPPL3
NM_139015 signal peptide peptidase 3RT-4testis
chr12121600180121600180CTrs208293N6.63656749111e-070.469249intronicP2RX7
purinergic receptor P2X, ligand-gated ion channel, 7Karpas-707cerebral cortex
chr12121600252121600253GTACN8.42917233967e-06nonframeshift substitutionP2RX7
NM_0025625462 purinergic receptor P2X, ligand-gated ion channel, 7Karpas-707cerebral cortex
chr12121600252121600253GTGCN8.42917233967e-06nonframeshift substitutionP2RX7
NM_0025625462 purinergic receptor P2X, ligand-gated ion channel, 7Karpas-707cerebral cortex
chr121222326312223263GCrs1990699N0.0004644978907890.279353upstreamBCL2L14
BCL2-like 14 (apoptosis facilitator)CAPAN-2duodenum
chr12124102656124102656CTrs59126974N0.07699578255410.252196intronicDDX55
DEAD (Asp-Glu-Ala-Asp) box polypeptide 55NB-4lymph node
chr121244294512442945CTrs2417180N4.01977917619e-090.995008intergenic
chr12126994913126994913GArs10847172N8.41377811867e-090.679113intergenic
chr121276379912763799CArs7133523N5.15105682553e-080.876597upstreamCREBL2
cAMP responsive element binding protein-like 2HDLM-2adrenal gland
chr121287069512870695TCrs34330N0.173585072160.6617415-UTRCDKN1B
NM_004064 cyclin-dependent kinase inhibitor 1BKarpas-707ovary
chr12128900005128900005GArs1683723N0.0001403436908730.510383NNNNnonsynonymous SNVTMEM132C
NM_0011361032814272V=>Itransmembrane protein 132CDaudiadipose tissue
chr12129556884129556885TGCTN0.003451664699243-UTRTMEM132D
NM_133448 transmembrane protein 132DMOLT-4cerebral cortex
chr12130635355130635355AGrs872353N1.00687831406e-080.648962downstreamFZD10-AS1
chr12130635422130635436ACCCCCCCCCCAGCTACCCCCACAGCTN0.000775733205955downstreamFZD10-AS1
chr12130635460130635460TCrs7134211N1.15230180953e-080.697484downstreamFZD10-AS1
chr12130647709130647709GCrs10848026N4.13405985e-070.320088synonymous SNVFZD10
NM_007197122274L=>Lfrizzled homolog 10 (Drosophila)BEWOesophagus
chr12130899033130899033CArs10773780N1.63179247892e-080.585264intronicRIMBP2
RIMS binding protein 2SH-SY5Ycerebral cortex
chr12130991286130991286AGrs1464109N1.53446211293e-090.9796335-UTRRIMBP2
NM_015347 RIMS binding protein 2SH-SY5Ycerebral cortex
chr12131306314131306314CGrs17564N5.05840716869e-070.604034NNNNnonsynonymous SNVSTX2
NM_194356
NM_001980
3,3125,12542,42S=>T,S=>Tsyntaxin 2U-87-MGtestis
chr12133786506133786506GCrs148542377N0.1168875768780.82528intergenic
chr121440274414402744AGrs10772756N4.92684932851e-070.749401intergenic
chr1216096871609687GArs10848498N1.70191960933e-050.343251ncRNALINC00942
chr1216758471675847GArs73030956N0.4866327941420.1805113-UTRFBXL14
NM_152441 Karpas-707testis
chr121885454018854591ATCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCAATCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCAN0.107690580189intronicPLCZ1
phospholipase C, zeta 1NTERA-2testis
chr1219066321906632GArs61741336N0.03410826250910.00678914NNNNnonsynonymous SNVCACNA2D4
NM_1723643530651022P=>Lcalcium channel, voltage-dependent, alpha 2/delta subunit 4HMC-1appendix
chr122165464421654644CArs1860947N0.03176200017330.867812upstreamGOLT1B
RECQL
chr1228513572851357CTrs10774059N5.49387035864e-100.743211intergenic
chr1228515632851563TCrs10774060N1.00991928775e-060.722444intergenic
chr1228515832851583GCrs10848697N2.66687010253e-070.675319intergenic
chr1228516032851603GArs4635140N2.20419707375e-070.612021intergenic
chr122968820229688202TCrs299453N6.26791066966e-120.497204intronicTMTC1
transmembrane and tetratricopeptide repeat containing 1RH-30spleen
chr123090687530906875CTrs33255N0.0034501147456515-UTRCAPRIN2
NM_001002259
NM_001206856
NM_001319842
NM_001319843
NM_023925
NM_032156
caprin family member 2U-2197testis
chr123225936732259367AGrs1151016N8.28669180919e-060.819888upstreamBICD1
bicaudal D homolog 1 (Drosophila)NTERA-2ovary
chr1233103353310335CTrs740777N8.63380080318e-070.29972intronicTSPAN9
tetraspanin 9RH-30heart muscle
chr123313877033138770CTrs12231850N8.98544203665e-060.234425intergenic
chr123793777437937774CArs10880821N4.78787023894e-060.590256intergenic
chr123855617238556172GArs10880645N5.48049683857e-060.292732intergenic
chr124078698740786987AGrs1427259N1.52948743448e-070.832468upstreamMUC19
mucin 19
chr124232673942326739AGrs1234015N9.44439193518e-100.994409intergenic
chr124253883742538837TCrs10880253N0.4866327941420.558107upstreamGXYLT1
glucoside xylosyltransferase 1U-2-OStestis
chr124253884742538847CGrs10880254N0.4866327941420.547324upstreamGXYLT1
glucoside xylosyltransferase 1U-2-OStestis
chr124287810042878100CGrs1669917N2.3032194356e-240.829273intronicPRICKLE1
prickle homolog 1 (Drosophila)NTERA-2spleen
chr124612166246121662TArs888559N0.4866327941420.986621ncRNALINC00938
chr1247359684735970AGACAGN0.0032173236832nonframeshift substitutionAKAP3
NM_001278309
NM_006422
5,52098,2098 A kinase (PRKA) anchor protein 3NTERA-2testis
chr1247366774736677GCrs11063266N1.06608109007e-080.911542NNNNnonsynonymous SNVAKAP3
NM_001278309
NM_006422
5,51391,1391464,464T=>S,T=>SA kinase (PRKA) anchor protein 3NTERA-2testis
chr124936439149364391GArs833843N4.10641576298e-100.387181intronicWNT10B
wingless related MMTV integration site 10bU-266/84cerebral cortex
chr12496439496439ATrs7965303N3.01047020912e-050.649161NDintronicKDM5A
lysine (K)-specific demethylase 5AHDLM-2testis
chr125045082850450828CTrs836185N3.4213167055e-060.927516upstreamASIC1
SH-SY5Ycerebral cortex
chr125085519550855195AGrs4351895N0.0001992241450350.5668933-UTRLARP4
NM_001170804 La ribonucleoprotein domain family, member 4CACO-2liver
chr1251529495152949CTrs10744676N6.33434808606e-070.909545upstreamKCNA5
potassium voltage-gated channel, shaker-related subfamily, member 5NTERA-2heart muscle
chr125284003652840036GArs373992N4.13185262005e-050.517173downstreamKRT6B
keratin 6BHaCaTesophagus
chr125284580152845801TCrs428894N0.000100860183011NNNNnonsynonymous SNVKRT6B
NM_00555516221N=>Skeratin 6BHaCaTesophagus
chr125316594053165940CTrs6580904N3.62458081327e-070.600839NDPDnonsynonymous SNVKRT76
NM_01584851075,359359A=>Tkeratin 76HaCaTskin
chr125318998353189983AGrs1873648N1.61216338057e-080.828275upstreamKRT3
HaCaTesophagus
chr12550911550934CTTTTTTTTTTTTTTTTTCAAACCCTTTTTTTTTTTTTTTTCAAACCD0.74551230669intronicCCDC77
coiled-coil domain containing 77NTERA-2testis
chr125525054955250549TGrs10783685N0.000399395270506intronicMUCL1
SK-BR-3salivary gland
chr125575883255758832TCrs7962135N1.7114318851e-080.850639upstreamOR6C75
A-431adipose tissue
chr125579426455794264AGrs7967395N5.93325832909e-100.780551upstreamOR6C65
A-431adipose tissue
chr125588629455886294GArs7133698N1.29120550696e-070.623602NNNNnonsynonymous SNVOR6C68
NM_0010055191133,4545A=>TA-431adipose tissue
chr125744589257445914CAAAAAAAAAAAAAAAATTCTAGCAAAAAAAAAAAAAAAAATTCTAGN0.00440984778106intergenic
chr125797700357977003CTrs775249N0.005285601597280.211462intronicKIF5A
kinesin family member 5ASCLC-21Hcerebral cortex
chr125806266758062667CTrs10876993N1.18386451504e-050.471046intergenic
chr126012759060127590ATrs2706309N0.0001272018271270.433906intronicSLC16A7
solute carrier family 16 (monocarboxylic acid transporters), member 7RT-4heart muscle
chr126016926560169265GArs12718000N0.00268627400510.131589intronicSLC16A7
solute carrier family 16 (monocarboxylic acid transporters), member 7RT-4heart muscle
chr126226107762261097GAAAAAAAAAACAGAAAAGCTGAAAAAAAAAAACAGAAAAGCTN0.0186092481017intronicFAM19A2
WM-115cerebral cortex
chr126272922262729222GCrs2242032N0.0039013735950.4103433-UTRUSP15
NM_001252079 ubiquitin specific peptidase 15K-562bone marrow
chr1263802726380272GArs61918196N0.0001703279995130.163738intergenic
chr1265627536562753AGrs2532501N7.43064724334e-120.6877NNNNnonsynonymous SNVTAPBPL
NM_0180093436146M=>VCAPAN-2duodenum
chr1265720486572048AGrs1045452N5.83103065832e-100.7300323-UTRVAMP1
NM_001297438
NM_014231
NM_199245
U-698bone marrow
chr126584796065847968AGGGGGGCTAGGGGGCTN0.179154366255intronicMSRB3
methionine sulfoxide reductase B3U-937esophagus
chr126635807966358082AAGGAGD0.9968255758293-UTRHMGA2
NM_003483 NTERA-2testis
chr126997951769979517CTrs2601006N0.00534441182390.4159355-UTRCCT2
NM_001198842 chaperonin containing Tcp1, subunit 2 (beta)U-698testis
chr127009320670093206GCrs775431N1.47006407047e-100.666334upstreamBEST3
bestrophin 3U-698cerebral cortex
chr127032025470320254AGrs1152964N1.89727834368e-050.235623intronicMYRFL
NTERA-2duodenum
chr1270533627053362AGrs915997N0.4866327941420.907149intronicC12orf57
NTERA-2ovary
chr1276494847649484TCrs4883263N4.39745854237e-050.76258NNNNnonsynonymous SNVCD163
NM_203416
NM_004244
5,51024,1024342,342I=>V,I=>VCD163 antigenCACO-2appendix
chr128016949780169549TAAAAAAAAAAAACAAAAAACAAACCAACAACAACAAAAACACCCCAGAAAATTAAAAAAAAAAACAAAAAACAAACCAACAACAACAAAAACACCCCAGAAAATD0.9999109506613-UTRPPP1R12A
NM_001143886
NM_001244992
NM_002480
NM_001143885
NM_001244990
protein phosphatase 1, regulatory (inhibitor) subunit 12AHELuterus
chr128837956688379566AGrs10858676N1.59991312733e-120.994209intronicC12orf50
SK-MEL-30testis
chr129389676593896769CGTGACAD0.9999997615813-UTRMRPL42
NM_014050
NM_172177
mitochondrial ribosomal protein L42SCLC-21Hadrenal gland
chr129389777993897798CTTTTTTTTTTCTTATAATCCTTTTTTTTTTTCTTATAATCN0.428226619959downstreamMRPL42
mitochondrial ribosomal protein L42SCLC-21Hadrenal gland
chr129467192294671943CAAAAAAAACAAAACAAAATTCCAAAAAAACAAAACAAAATTCN0.0133595652878intronicPLXNC1
plexin C1U-266/70appendix
chr129577532195775321GTrs2727667N4.0801328538e-080.74401intergenic
chr12974308974313TCCCATTCCCCATN0.0738068893552frameshift substitutionWNK1
NM_21365592172 WNK lysine deficient protein kinase 1HELkidney
chr1298147829814782AGrs4439599N1.30517374686e-080.858626intergenic
chr12990912990912ACrs956868N1.55514317157e-060.852835NNNNnonsynonymous SNVWNK1
NM_014823
NM_018979
NM_213655
NM_001184985
11,13,13,132425,3166,3922,3946809,1056,1308,1316T=>P,T=>P,T=>P,T=>PWNK lysine deficient protein kinase 1HELkidney
chr12998365998365GTrs12828016N4.44506840722e-050.417532NNNNnonsynonymous SNVWNK1
NM_014823
NM_018979
NM_213655
NM_001184985
19,21,21,214683,5424,6180,62041561,1808,2060,2068M=>I,M=>I,M=>I,M=>IWNK lysine deficient protein kinase 1HELkidney
chr13100548120100548122CATCTD0.87949937582ncRNALOC101927437
chr13100548125100548125GTrs112355223N4.11677392549e-050.143171ncRNALOC101927437
chr13108519247108519270GGAGAGAGAGAGAGAGAGAGAGACGGAGAGAGAGAGAGAGAGAGACN0.0008445586427115-UTRFAM155A
NM_001080396 family with sequence similarity 155, member ASH-SY5Ycerebral cortex
chr13111414418111414418TCrs328791N1.48891345475e-070.980232intergenic
chr13111567531111567531CGrs7331404N0.01212262548510.832867upstreamANKRD10
ankyrin repeat domain 10HDLM-2bone marrow
chr13111588967111588967TCrs2391883N1.90291444824e-080.807508intergenic
chr13111747799111747799AGrs4773322N6.01428837288e-110.941693upstreamLINC00368
chr13111766981111766981ACrs7321389N0.0002679718600120.595847ncRNAARHGEF7-AS2
chr13111767056111767056GTrs9555770N0.4866327941420.337859ncRNAARHGEF7-AS2
chr13114302293114302293GArs9577598D0.9256387948990.474042downstreamATP4B
ATPase, H+/K+ exchanging, beta polypeptideSCLC-21Hstomach
chr13114302326114302326AGrs7998172N0.009570358321070.488618downstreamATP4B
ATPase, H+/K+ exchanging, beta polypeptideSCLC-21Hstomach
chr13114587161114587161TGrs7998869N4.61231781934e-110.848642upstreamLINC00454
chr131931948819319488TAN0.00522136641666intergenic
chr131931949419319495GTCCN0.00454715592787intergenic
chr131931950919319509CTN0.00244606402703intergenic
chr132205779622057796GArs2247123N2.8171984745e-090.972244intergenic
chr132662612126626138TCGCCCCGCCCGGCGCCATCGCCCGGCGCCAN0.486632794142upstreamSHISA2
shisa homolog 2 (Xenopus laevis)RH-30thyroid gland
chr132855135728551357CGrs7989004N0.001951757934880.204872downstreamURAD
BEWOcolon
chr135015979350159816CGCCCCGGCCCCGGCCCCGGCCGACGCCCCGGCCCCGGCCCCGGCCCCGGCCGAN0.486632794142upstreamRCBTB1
regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1REHthyroid gland
chr135179646851796468TCrs7320388N0.002729354426261upstreamFAM124A
family with sequence similarity 124, member ANTERA-2spleen
chr137187007671870076GArs2325357N6.65691572976e-080.970847intergenic
chr137611231276112312CTrs7336498N0.4866327941420.961661intronicCOMMD6
COMM domain containing 6THP-1ovary
chr137999943379999433TGrs7338678N6.53956431051e-060.519569downstreamRBM26-AS1
chr139001557890015578AGrs2348563N2.89031437672e-110.78754intergenic
chr139879563198795631CTrs598590N0.0005177262937650.6144175-UTRFARP1
NM_001001715
NM_005766
FERM, RhoGEF (Arhgef) and pleckstrin domain protein 1 (chondrocyte-derived)Hep-G2thyroid gland
chr139910417099104170CTrs3742134N0.4866327941420.2108633-UTRSTK24
NM_003576
NM_001032296
NM_001286649
serine/threonine kinase 24HDLM-2esophagus
chr14101377736101377736AGrs9324026N2.26746233238e-050.509984downstreamMIR370
chr14103010942103010942CGrs10137876N0.4866327941420.900359intergenic
chr14103375594103375594TArs4906271N1.04683241242e-110.9762383-UTRTRAF3
NM_001199427
NM_003300
NM_145725
NM_145726
TNF receptor-associated factor 3HDLM-2lymph node
chr14103590772103590772GArs3759573N1.46456231745e-170.604633intergenic
chr14103851089103851089ACrs10146340N5.29557624418e-080.966054upstreamMARK3
MAP/microtubule affinity-regulating kinase 3U-266/84bone marrow
chr14105642138105642138CTrs880616N5.85065995651e-100.6142173-UTRNUDT14
NM_001318380 HMC-1adipose tissue
chr14105952271105952271AGrs8012089N4.47290367447e-050.84345upstreamCRIP1
cysteine-rich protein 1 (intestinal)A-549small intestine
chr14106088023106088023TCrs6576119N2.23351264594e-070.860024downstreamMIR8071-1
MIR8071-2
chr14106092671106092671GArs28495737N6.5149430295e-100.85623intergenic
chr14106107071106107071TCrs12898162N3.98252382183e-080.915535downstreamMIR8071-1
MIR8071-2
chr14106207725106207725TCrs17841089N0.001079315436070.229034intergenic
chr14106348131106348131AGrs3021115N1.0851603065e-060.75639intergenic
chr14106375463106375463CGrs2854769N3.39281496053e-061intergenic
chr14106375482106375484TAGTGD0.997243881226intergenic
chr14106376856106376858CCTTCCN0.136392831802intergenic
chr14106376868106376868AGrs112435109N0.116135880351intergenic
chr14106376878106376880TGGAGTN0.152472496033intergenic
chr14106721143106721145ATAATTAD0.605947971344intergenic
chr14106721160106721167GTTTGTTAGTTGTTAD0.727490305901intergenic
chr14106785554106785556ACTAGCCTN0.278172492981intergenic
chr14106845002106845002GTrs10129951N4.70161779731e-071intergenic
chr14106845035106845037AAATATN0.0854988023639intergenic
chr14106937467106937469GCAGCCAN0.106639891863upstreamLINC00221
chr141960039819600398TGrs3000540N1.82314225922e-180.913139intergenic
chr142111002621110026AGrs12586851N1.58227607017e-070.459864upstreamOR6S1
HDLM-2spleen
chr142116941121169411GArs7149524N1.08574727165e-060.762979downstreamRNASE4
ribonuclease, RNase A family 4Hep-G2liver
chr142257344322573443CTrs4572291N8.27176481835e-050.228035intergenic
chr142258107122581071GArs10130061N1.79970080505e-100.936502intergenic
chr142295826122958261TCrs227871N1.0648063542e-090.978834intergenic
chr142297540722975407GCrs226993N1.40548211958e-100.974641intergenic
chr142298874822988748GArs227010N4.10683567755e-190.996406intergenic
chr142300578623005786ACrs1154156N2.4763673423e-070.777356intergenic
chr142329900923299013GCCGTGCCCGTN0.486632794142upstreamMRPL52
mitochondrial ribosomal protein L52Hep-G2duodenum
chr142480395624803956ACrs1124644N7.82183046021e-160.8182915-UTRADCY4
NM_001198568 adenylate cyclase 4TIMEplacenta
chr142488388724883887GArs8017377N5.12040628564e-070.244409NNNNnonsynonymous SNVNYNRIN
NM_02508192932,978978A=>TNYN domain and retroviral integrase containingRT-4ovary
chr142573664125736641GTrs7144269N7.33766091798e-060.476637intergenic
chr142573665225736652CTrs7145534N5.82176244279e-060.476637intergenic
chr142831459028314590CGrs12887474N0.001808659057130.298323intergenic
chr142831491528314915TCrs8021987N0.0004100886872040.265974intergenic
chr142831492728314927GCrs8015916N0.00180846964940.298123intergenic
chr142924704729247066ATTTTTTTTTTTTTTAGAACATTTTTTTTTTTTTAGAACD0.583061754704ncRNALINC01551
chr143503211235032112CTrs13826N2.6640145645e-100.4359033-UTRSNX6
NM_021249
NM_152233
sorting nexin 6TIMEplacenta
chr143965300539653005CTrs67316582N2.29660654441e-050.339257downstreamPNN
pininHep-G2bone marrow
chr145134828151348306CTTTTTTTTTTTTTTTTTAAACTTCCCTTTTTTTTTTTTTTTTTTAAACTTCCN0.0121213458478intronicABHD12B
BEWOskin
chr145134828151348306CTTTTTTTTTTTTTTTTTAAACTTCCCTTTTTTTTTTTTTTTTTTTAAACTTCCN0.0121213458478intronicABHD12B
BEWOskin
chr146534695065346950GArs1951491N3.91092762584e-050.668131intergenic
chr146534695765346957GTrs1951490N8.95065022632e-050.668131intergenic
chr147308061873080618TCrs2803959N2.12015105992e-120.759385intergenic
chr147439942274399422CGrs2336548N7.29970633984e-060.501597downstreamFAM161B
ZNF410
chr147542230275422302AGrs12885730N0.4073539972310.993815-UTRPGF
NM_001207012
NM_001293643
NM_002632
placental growth factorBEWOplacenta
chr147663858676638586TGrs4903383N9.98676363828e-100.9978043-UTRGPATCH2L
NM_001322027 CAPAN-2bone marrow
chr147664275776642757GArs12437310N3.30743023369e-050.767971intronicGPATCH2L
CAPAN-2bone marrow
chr149368656893686593CTTTTTTTTTTTTTTTTTTCCCTAAACTTTTTTTTTTTTTTTCCCTAAAD0.517147243023intronicUBR7
ubiquitin protein ligase E3 component n-recognin 7 (putative)MOLT-4testis
chr149485789294857892CGrs2071275N1.4520855629e-080.66254upstreamSERPINA1
Hep-G2liver
chr149608684396086844GAAGN0.00207338249311intergenic
chr149608685596086857TGTCGGN0.000391972513171intergenic
chr15100266779100266779GArs8034156N1.36849004351e-100.699281downstreamLYSMD4
LysM, putative peptidoglycan-binding, domain containing 4HaCaTskin
chr15100347024100347024AGrs2458579D0.501221299171ncRNADNM1P46
chr15100513372100513382ACCTTCCTTCAACCTTCAN0.1313078105453-UTRADAMTS17
NM_139057 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 17HEK-293testis
chr15101113700101113719CTTTTTTTTTTTTTTGAAAACTTTTTTTTTTTTTTTGAAAAD0.972981214523intronicLINS1
chr15102264304102264304GCrs1143138N0.1403796672820.458666NNNnonsynonymous SNVTARSL2
NM_1523341287,9696A=>Gthreonyl-tRNA synthetase-like 2HEK-293cerebral cortex
chr15102291955102291955GArs397212N1.38164431007e-080.463458intergenic
chr152193195921931959CGrs8038596N3.21868185438e-070.629593downstreamLOC646214
chr152248332822483328TCrs550604N3.11409166898e-050.705871intergenic
chr152304287023042886CTTTTTTTTTTTTGAGACTTTTTTTTTTGAGAN0.148495748639downstreamNIPA1
non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human)HDLM-2cerebral cortex
chr152311542223115422TCrs3816074N3.77785402961e-090.483826upstreamLOC283683
chr152445130224451302AGrs11161415N3.2535790524e-060.751198intergenic
chr152612261826122618CTrs34451068N0.01394206844270.136382intergenic
chr152941204729412047CTrs11638181N2.82993198653e-070.648962downstreamFAM189A1
family with sequence similarity 189, member A1HDLM-2cerebral cortex
chr153359550633595506ACrs2670949N1.77183025585e-070.822284downstreamLOC101928134
chr153538543435385434CTrs12916766N8.26489554129e-070.333866intergenic
chr154060105640601073GCTCTCCTCTCTCCTCCGGCTCTCCTCCGN0.0207275692374upstreamPLCB2
phospholipase C, beta 2HMC-1spleen
chr154064304340643084TCACACACACACACACACACACACACACACACACACACACATTCACACACACACACACACACACACACACACACACATN0.000329483300447upstreamPHGR1
SCLC-21Hcolon
chr154065029640650296GArs12901268N0.4866327941420.00599042upstreamDISP2
dispatched homolog 2 (Drosophila)SCLC-21Hcerebral cortex
chr154084530240845302GArs8042729N0.005056290421630.3494413-UTRC15orf57
NM_001080791
NM_001080792
NM_052849
HELlymph node
chr154211812342118123GCrs3179542N2.39311702899e-070.2961263-UTRMAPKBP1
NM_001128608
NM_001265611
NM_014994
mitogen-activated protein kinase binding protein 1HaCaTtestis
chr154226539642265396GTrs72726040N0.007654934655870.125ncRNAPLA2G4E-AS1
chr154487780044877829TAAAAAAAAAAAAAAAAAAAAAGACCGATGTAAAAAAAAAAAAAAAAAAAAGACCGATGD0.968203365803intronicSPG11
spastic paraplegia 11K-562skin
chr154487780044877829TAAAAAAAAAAAAAAAAAAAAAGACCGATGTAAAAAAAAAAAAAAAAAAAGACCGATGD0.968203365803intronicSPG11
spastic paraplegia 11K-562skin
chr154598393645983941GTTCTAGTTCTTCTAN0.00135528098326downstreamSQRDL
sulfide quinone reductase-like (yeast)U-2197colon
chr154926395149263951GArs12324356N3.72997078557e-070.544329intergenic
chr155264099052641011TAAAAAAAAAAAAAGGTATAATTAAAAAAAAAAAAAAGGTATAATN0.267063766718intronicMYO5A
myosin VAKarpas-707cerebral cortex
chr155994977059949770ACrs7163436N0.4866327941420.998403upstreamGTF2A2
general transcription factor II A, 2U-2-OStestis
chr156253449562534497ATGAGN0.0163839645684downstreamGOLGA2P11
chr156253450062534500TGrs4989098N1.67086545844e-050.491813downstreamGOLGA2P11
chr156339060863390608CTrs11071725N2.76114825448e-100.726837intergenic
chr156971548869715488CTrs7180624N3.31159144551e-090.987819intronicKIF23
kinesin family member 23RH-30bone marrow
chr157007862470078624TCrs305034N7.65081509257e-090.866014intergenic
chr157034051170340511GArs3743309N8.33270730194e-100.7256393-UTRTLE3
NM_001282982
NM_001282981
NM_001105192
NM_001282979
NM_001282980
NM_005078
NM_020908
transducin-like enhancer of split 3, homolog of Drosophila E(spl)U-266/70bone marrow
chr157207092972070929GArs7402189N5.26558267211e-070.8240813-UTRTHSD4
NM_024817
NM_001286429
thrombospondin, type I, domain containing 4TIMEesophagus
chr157397691773976925AGGGCGCCTAGGGGCGCCTN0.206558898091intronicCD276
U-2197placenta
chr157531271575312715CGrs3812943N1.45834783325e-050.2066693-UTRSCAMP5
NM_001178111
NM_001178112
NM_138967
SCLC-21Hcerebral cortex
chr157649799976497999TCrs2456043N5.77665026924e-080.961661downstreamTMEM266
chr157811411678114116TCrs4886921N2.17123215407e-050.735024upstreamLINGO1
leucine rich repeat and Ig domain containing 1NTERA-2cerebral cortex
chr157818668378186683GCrs4886536N1.35739292091e-050.796326intergenic
chr157821927878219278CTrs9920783N0.0003066114732060.105631upstreamLOC645752
chr157823692978236929AGrs11072703N0.4866327941420.766374intergenic
chr157839734978397355CTTTGGGCTTGGGN0.236989513043-UTRCIB2
NM_001271888
NM_001271889
NM_001301224
NM_006383
calcium and integrin binding family member 2SH-SY5Ysmall intestine
chr157839734978397355CTTTGGGCTTGGTN0.236989513043-UTRCIB2
NM_001271888
NM_001271889
NM_001301224
NM_006383
calcium and integrin binding family member 2SH-SY5Ysmall intestine
chr157847132078471320CGrs2868606N8.1803221974e-091intronicACSBG1
acyl-CoA synthetase bubblegum family member 1NTERA-2cerebral cortex
chr157879073578790749TGGGGGGGGGGCGATTGGGGGGGGGCGATD0.9752256274223-UTRIREB2
NM_001320941
NM_004136
NM_001320942
iron responsive element binding protein 2U-266/84thyroid gland
chr158917365789173657ATrs3826038N5.89778448301e-100.7496013-UTRAEN
NM_022767 apoptosis enhancing nucleaseNTERA-2gallbladder
chr158986035089860350ACrs1061316N7.44538483559e-050.4458873-UTRFANCI
NM_001113378
NM_018193
FANCONI ANEMIA, COMPLEMENTATION GROUP IFanconi anemia, complementation group IHELtestis
chr159062452190624527GAAATAGGAATAGN0.1683970689773-UTRZNF710
NM_198526 SK-BR-3pancreas
chr159080926990809271CTGCGN0.486632794142intronicNGRN
U-266/84cerebral cortex
chr159089556490895564ACrs1869179N0.4866327941420.6894975-UTRZNF774
NM_001004309 CACO-2colon
chr159093136390931363CTrs2589940N0.4866327941420.677716upstreamIQGAP1
IQ motif containing GTPase activating protein 1RT-4colon
chr159348785493487854GCrs1320819N0.000103598918940.5627intronicCHD2
chromodomain helicase DNA binding protein 2SK-MEL-30bone marrow
chr159358803093588030TCrs1969589N6.29569626653e-070.7723643-UTRRGMA
NM_001166286
NM_001166288
NM_001166289
NM_001166283
NM_001166287
NM_020211
RGM domain family, member ANTERA-2cerebral cortex
chr159477471194774713TAGTAAGN0.0930556952953intergenic
chr159732674897326748GTrs12911590N1.05752395729e-090.575285-UTRSPATA8
NM_001304804
NM_001304805
NM_001304806
NM_173499
U-2-OStestis
chr159919275499192786CTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGGCTTTTTTTTTTTTTTTGAGAAAGGN0.00229244329967ncRNAIRAIN
chr1610212661021266GArs2432296N0.2523486018180.522364upstreamLMF1
RPMI-8226pancreas
chr161103662411036624AGrs3087876N0.01388933043930.554912upstreamDEXI
dexamethasone-induced transcriptHep-G2adrenal gland
chr1611162201116227TGGGGGACTGGGGGGACN0.000107412844955ncRNASSTR5-AS1
chr1611164451116445AGrs530518N4.37768155059e-100.963259ncRNASSTR5-AS1
chr1611298721129872CTrs169068N1.16559722301e-050.518171NNNNnonsynonymous SNVSSTR5
NM_001053
NM_001172560
1,21004,1004335,335P=>L,P=>Lsomatostatin receptor 5PC-3adrenal gland
chr1611311811131181CTrs12599155N3.88031594412e-060.418733-UTRSSTR5
NM_001172560
NM_001053
somatostatin receptor 5PC-3adrenal gland
chr1611611481161148CTrs2729584N0.0009177636820820.25619intergenic
chr161200953012009563CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCACCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCAN0.486632794142nonframeshift substitutionGSPT1
NM_002094
NM_001130006
1,115,15 G1 to S phase transition 1SiHatestis
chr161266406312664063GArs890894N2.01968894942e-080.5339463-UTRSNX29
NM_032167 sorting nexin 29U-266/84kidney
chr1613586081358629ATGAGGGAGGGAGGGAATTAGTATN0.0845147147775upstreamUBE2I
ubiquitin-conjugating enzyme E2IREHovary
chr1613774201377420CTrs113064632N9.42664883041e-060.034345downstreamUBE2I
ubiquitin-conjugating enzyme E2IREHovary
chr1613918711391871CGrs2369699N3.89591967576e-080.583067intronicBAIAP3
BAI1-associated protein 3CAPAN-2adrenal gland
chr1614144981414498CTrs3826051N5.77800019528e-050.3260783-UTRUNKL
NM_001193389
NM_001276414
NM_001193388
unkempt-like (Drosophila)HeLaspleen
chr161440226514402265TCrs30231N5.1282715433e-240.757788ncRNAMIR193BHG
chr1614843251484325CGN0.0001407077361360.00159744downstreamCCDC154
coiled-coil domain containing 154SCLC-21Htestis
chr1614843481484348TGrs7196951N8.42815134092e-050.188698downstreamCCDC154
coiled-coil domain containing 154SCLC-21Htestis
chr1614843851484385CArs78398531N6.98506482877e-050.125599downstreamCCDC154
coiled-coil domain containing 154SCLC-21Htestis
chr1614852431485243AGrs9927318N0.0006112191476860.226637intronicCCDC154
coiled-coil domain containing 154SCLC-21Htestis
chr1614852551485255AGrs9927323N0.0007858621538620.220647intronicCCDC154
coiled-coil domain containing 154SCLC-21Htestis
chr161506890815068908CGrs28418438N0.4866327941420.4293135-UTRPDXDC1
NM_001285450
NM_001285444
NM_001285445
NM_001324019
NM_015027
NM_001285449
NM_001324020
NM_001324021
pyridoxal-dependent decarboxylase domain containing 1HMC-1testis
chr161511121815111218CTrs4985162N0.435912489891NNNNnonsynonymous SNVPDXDC1
NM_001285450
NM_001285447
NM_001285448
NM_001285445
NM_015027
NM_001285449
NM_001285444
10,11,10,10,11,11,10833,857,629,818,902,902,821278,286,210,273,301,301,274P=>L,P=>L,P=>L,P=>L,P=>L,P=>L,P=>Lpyridoxal-dependent decarboxylase domain containing 1HMC-1testis
chr161513210815132108AGrs2740N0.006358293350790.3398563-UTRPDXDC1
NM_001285447
NM_001285448
NM_001285444
NM_001285445
NM_001324019
NM_015027
pyridoxal-dependent decarboxylase domain containing 1HMC-1testis
chr161519840515198407GTGATTN0.000188499208889ncRNAPKD1P6-NPIPP1
chr161581831015818310GArs11130N7.51396498799e-070.5049923-UTRNDE1
NM_001143979
NM_017668
Karpas-707lymph node
chr1615836341583634TCrs8048206N0.4866327941420.23762intronicIFT140
TMEM204
chr161587644815876448TGN1.45490419712e-090.00139776intronicMYH11
myosin, heavy polypeptide 11, smooth muscleU-698esophagus
chr1615920871592087TCrs2076444N4.43311091658e-060.33746intronicIFT140
TMEM204
chr161623220116232214GTTTTTTTCTTCCGGTTTTTTCTTCCGD0.550979316235intronicABCC1
ATP-binding cassette, sub-family C (CFTR/MRP), member 1A-549testis
chr161673037516730375TArs1380142N7.2838122378e-070.620607intergenic
chr161704735417047354GArs74867405N2.01825150725e-050.0251597intergenic
chr161743242717432427TCrs4782002N8.62941669766e-050.34385intronicXYLT1
xylosyltransferase 1U-2197cerebral cortex
chr161756465817564658GCrs117041807N0.4866327941420.08146965-UTRXYLT1
NM_022166 xylosyltransferase 1U-2197cerebral cortex
chr1618211461821146GArs200014489N0.01396021246910.00698882synonymous SNVNME3
NM_002513320468H=>HNME/NM23 nucleoside diphosphate kinase 3HEK-293prostate
chr1618221591822159TCrs2269123N0.0009881467558440.1489623-UTRMRPS34
NM_001300900
NM_023936
mitochondrial ribosomal protein S34HEK-293duodenum
chr1618230241823024GTrs11552431N0.4866327941420.145966DNNNnonsynonymous SNVMRPS34
NM_023936
NM_001300900
1,197,9733,33L=>I,L=>Imitochondrial ribosomal protein S34HEK-293duodenum
chr1618447331844733AGrs34679887N0.00103368051350.0435304upstreamIGFALS
ACID-LABILE SUBUNIT DEFICIENCYinsulin-like growth factor binding protein, acid labile subunitHep-G2liver
chr1618591501859153GAATAAACN0.001883254037243-UTRHAGH
NM_001040427
NM_001286249
NM_005326
hydroxyacyl glutathione hydrolaseEFO-21liver
chr1618769491876949GCrs7188401N0.4866327941420.393975-UTRHAGH
NM_001040427
NM_001286249
NM_005326
hydroxyacyl glutathione hydrolaseEFO-21liver
chr16188614188617ACGCAGN0.4866327941425-UTRNPRL3
NM_001039476
NM_001243248
NM_001243249
nitrogen permease regulator-like 3MCF-7ovary
chr161931562119315621CGrs16971804N1.06441148091e-050.307109intronicCLEC19A
chr161961960219619623CTTTTTTTTTTTTTTGGTCTGACTTTTTTTTTTTTTTTGGTCTGAD0.997928500175intronicC16orf62
EFO-21testis
chr161961960219619623CTTTTTTTTTTTTTTGGTCTGACTTTTTTTTTTTTTTTTGGTCTGAD0.997928500175intronicC16orf62
EFO-21testis
chr1619692141969214TCN0.003020764328540.00299521upstreamHS3ST6
heparan sulfate (glucosamine) 3-O-sulfotransferase 6A-549skin
chr161986868719868687GCrs2729N3.56496429599e-120.987623-UTRIQCK
NM_001305121
NM_001305122
NM_153208
IQ motif containing KMCF-7thyroid gland
chr1620341372034137CTrs56119017N0.4866327941420.136382upstreamGFER
growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)SK-BR-3small intestine
chr162036108720361089TTCTTCTGCCAGATCN0.0185112785548intronicUMOD
uromodulinEFO-21kidney
chr162043076920430769CTrs77322809N5.79893203394e-050.009584663-UTRACSM5
NM_001324373 acyl-CoA synthetase medium-chain family member 5U-87-MGliver
chr1620498822049899GTCCTCCTCCTCCTCCTGGTCCTCCTCCTCCTCCTCCTGD0.997363984585nonframeshift substitutionZNF598
NM_178167111651 HEK-293spleen
chr1620501922050192GTrs11556528N3.55705628863e-060.126997NDPNnonsynonymous SNVZNF598
NM_178167111358453S=>YHEK-293spleen
chr1620697502069750ACN0.005761278793225-UTRNPW
NM_001099456 SCLC-21Hliver
chr162128962621289626CGrs3848259N0.4866327941420.1022365-UTRCRYM
NM_001888 DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMICcrystallin, muHELheart muscle
chr1621441822144182GArs45478794N1.98013808017e-070.0383387DPNNnonsynonymous SNVPKD1
NM_000296
NM_001009944
35,3510526,105293509,3510T=>M,T=>MPOLYCYSTIC KIDNEY DISEASE 1polycystic kidney disease 1 homologHeLaskin
chr1622137602213762GTGGTTGN1.91643412109e-05intronicTRAF7
TNF receptor-associated factor 7MCF-7duodenum
chr162234519122345191GArs7764N0.002026408212260.4488823-UTRPOLR3E
NM_001258033
NM_001258034
NM_001258035
NM_001258036
NM_018119
polymerase (RNA) III (DNA directed) polypeptide EHep-G2skin
chr162234688222346913GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGAGAGAGAGAGAGAGAGAGAGAGAGACN0.00746274413541downstreamPOLR3E
polymerase (RNA) III (DNA directed) polypeptide EHep-G2skin
chr162307935323079353TCrs8047644N2.14462531067e-100.8891773-UTRUSP31
NM_020718 ubiquitin specific peptidase 31RT-4testis
chr16231167231167CTrs3929997D0.5520614981650.0343453-UTRHBQ1
NM_005331 K-562bone marrow
chr16231486231486CGrs143741293N0.4866327941420.0175719downstreamHBQ1
K-562bone marrow
chr162316080023160800GCrs373063806N0.4866327941420.00139776upstreamUSP31
ubiquitin specific peptidase 31RT-4testis
chr162319386523193865AGrs5718N0.4866327941420.66873upstreamSCNN1G
LIDDLE SYNDROMEsodium channel, nonvoltage-gated 1 gammaRT-4kidney
chr162360789223607892GArs460186N0.02768019400540.141573upstreamNDUFAB1
Hep-G2heart muscle
chr162364619123646191TCrs152451N0.05796981975440.150759NNNNnonsynonymous SNVPALB2
NM_02467541676559Q=>RBREAST CANCER, SUSCEPTIBILITY TOpartner and localizer of BRCA2NTERA-2testis
chr162370153823701538AGrs27770N0.0007032837020230.2344253-UTRPLK1
NM_005030 polo-like kinase 1Hep-G2lymph node
chr162371192523711925CGrs26764N4.61009176433e-060.434704NNNNnonsynonymous SNVERN2
NM_033266
NM_001308220
13,121460,1304487,435S=>T,S=>Tendoplasmic reticulum (ER) to nucleus signalling 2CAPAN-2stomach
chr162420278624202786TArs198146N7.98105520516e-060.436901intronicPRKCB
protein kinase C, betaK-562cerebral cortex
chr162423144924231449CTrs424741N0.0003485716879370.03514383-UTRPRKCB
NM_002738
NM_212535
protein kinase C, betaK-562cerebral cortex
chr162456487924564898GTATATATATATATATATTCGTATATATATATATATTCD0.83414876461intronicRBBP6
retinoblastoma binding protein 6REHbone marrow
chr162506954525069545TCrs10852280N9.96911211359e-080.805312intergenic
chr1625106032510603CTrs4786284N0.0002716768067330.690695intronicC16orf59
REHtestis
chr1625125422512542GCrs72768722N0.0003762816777450.013778intronicC16orf59
REHtestis
chr162570313725703144TGGGGGCTTGGGGGGCTN0.000532311969437upstreamHS3ST4
heparan sulfate (glucosamine) 3-O-sulfotransferase 4NTERA-2cerebral cortex
chr162570347725703502AGGGGGGGGCGGTGGTGGGGGGGCCAAGGGGGGGCGGTGGTGGGGGGGCCAD0.5315728783615-UTRHS3ST4
NM_006040 heparan sulfate (glucosamine) 3-O-sulfotransferase 4NTERA-2cerebral cortex
chr1626428222642822CTrs72768734N0.00568946916610.0111821intronicPDPK1
3-phosphoinositide dependent protein kinase 1REHcerebral cortex
chr1628215732821573CTrs8017N4.14960774076e-110.413738NNNnonsynonymous SNVTCEB2
NM_2070135386129S=>NMCF-7heart muscle
chr1628217632821763CGrs1058855N0.0580365322530.2907353-UTRTCEB2
NM_007108 MCF-7heart muscle
chr1628348262834826AGrs12931183N3.66838469323e-110.599042intronicPRSS33
SK-MEL-30salivary gland
chr1628375922837592TGrs34341809N1.14784826089e-090.521965upstreamPRSS33
SK-MEL-30salivary gland
chr1628376032837603CTrs11076829N1.04745467855e-090.493211upstreamPRSS33
SK-MEL-30salivary gland
chr1628711212871121TCrs11076844N3.57456499955e-080.726637intronicPRSS21
protease, serine, 21U-698testis
chr1628792792879279TCrs4785908N1.22710060115e-160.71885upstreamZG16B
MCF-7salivary gland
chr1628929612892961AGrs17659759N0.0004423915233930.0974441upstreamPRSS30P
chr162897926328979263AGrs12934960N0.000115399227070.301717intergenic
chr1629024312902431AGrs7186326N2.31457131239e-100.516773downstreamPRSS22
protease, serine, 22CAPAN-2esophagus
chr1629178072917807TGrs875177N0.0001761181483740.796925intergenic
chr1629324312932431CGrs6500686N1.67587836586e-060.797724upstreamFLYWCH2
FLYWCH family member 2MCF-7spleen
chr162982334229823342TCrs8054524N0.01362153328960.991414upstream,downstreamPRRT2;MAZ
chr162982653829826538TCrs10204N9.01963052857e-120.781553-UTRPRRT2
NM_001256442
NM_001256443
NM_145239
REHcerebral cortex
chr163000423730004237GAD0.9994794726370.0001996813-UTRHIRIP3
NM_001197323
NM_003609
HIRA interacting protein 3REHtestis
chr163003452430034524TCrs4788213N3.55377665073e-080.440695upstreamC16orf92
SCLC-21Htestis
chr163004855330048553CTrs35467921N5.06191042859e-070.223243intergenic
chr1630052423005242GArs190494475N0.000157392409164intergenic
chr163007525530075255CTN0.03422996774320.0001996815-UTRALDOA
NM_000034 aldolase A, fructose-bisphosphateMCF-7heart muscle
chr1630511233051123TCrs1859378N2.58316978918e-100.709265downstreamLOC101929613
chr1630625533062553AGrs2231605N1.51296128403e-100.9914145-UTRCLDN9
NM_020982 MCF-7pancreas
chr163096050730960507TCrs4889582N0.0194146465510.987425-UTRORAI3
NM_152288 ORAI calcium release-activated calcium modulator 3U-266/70prostate
chr16313406313406AGrs7189326N0.01190346386280.400958intronicFAM234A
chr163140446731404467TGrs8050328N3.0379214877e-070.50599upstreamITGAD
integrin, alpha DNB-4spleen
chr1631406533140653ACN5.1345580232e-070.00139776intronicZSCAN10
zinc finger and SCAN domain containing 10NTERA-2bone marrow
chr1631745453174545AGrs443540N0.1517596244810.764577downstreamZNF213-AS1
chr1631926513192651TCrs1053996N3.2527033909e-050.3526363-UTRZNF213
NM_004220
NM_001134655
MCF-7testis
chr16319725319725TCrs740000N4.27021541327e-060.339856intronicRGS11
regulator of G-protein signaling 11SCLC-21Hcerebral cortex
chr1632008813200881CGrs2238386N0.4866327941420.263978downstreamCASP16P
chr16320759320759CTrs9806942N3.62967966794e-070.148163DDDNnonsynonymous SNVRGS11
NM_003834
NM_001286486
NM_183337
NM_001286485
14,12,14,13988,499,1051,1018330,167,351,340V=>M,V=>M,V=>M,V=>Mregulator of G-protein signaling 11SCLC-21Hcerebral cortex
chr1632199873220011TTTTGTTTGTTTGTTTGTTTTTGAGTTTTGTTTGTTTGTTTGTTTGTTTTTGAGN0.476261109114intergenic
chr16322934322934CTrs9940585N3.05489811581e-050.551917intronicRGS11
regulator of G-protein signaling 11SCLC-21Hcerebral cortex
chr1632402543240254TCrs412836N2.98056685161e-150.991214intergenic
chr16324030324038TGGGGGGTCTGGGGGGGTCN0.000109447413706intronicRGS11
regulator of G-protein signaling 11SCLC-21Hcerebral cortex
chr1632544703254470TCrs1834026N2.18713867071e-050.431909NNNNnonsynonymous SNVOR1F1
NM_012360122475F=>STHP-1testis
chr16326174326174GArs12921293N0.00692947767675upstreamRGS11
regulator of G-protein signaling 11SCLC-21Hcerebral cortex
chr1632654283265428GCrs579134N9.11498253178e-140.723442upstreamOR1F2P
chr1632660713266071AGrs2550401N9.83392993703e-080.445487ncRNAOR1F2P
chr1632941543294173GTTTTTTTTTTTGTCTTCTAGTTTTTTTTTTGTCTTCTAN0.194033399224intronicMEFV
FAMILIAL MEDITERRANEAN FEVERMediterranean feverTHP-1appendix
chr1633044493304449CGN0.486632794142DDDNnonsynonymous SNVMEFV
NM_0002432619207A=>PFAMILIAL MEDITERRANEAN FEVERMediterranean feverTHP-1appendix
chr16337421337421ACrs377220N4.09395228829e-090.998003downstreamAXIN1
PDIA2
chr163375212133752121CGrs2549408N4.43689618379e-090.997204intergenic
chr163392327933923279CArs79230281D1.0intergenic
chr163396069133960691ACrs77049061D1.0downstreamLINC00273
chr163396443333964434CCCAD0.999908089638intergenic
chr163396443333964434CCTGD0.999908089638intergenic
chr163396445533964457CGCTGTD0.999992370605intergenic
chr163396452833964545AGGGGGGGAGAGAGAGACAGAGGGGGGAGAGAGAGACD1.0intergenic
chr163396471433964718TGCCGCGCCAD0.99998486042intergenic
chr163396479333964795TTGTCGCTGD1.0intergenic
chr163396480533964807CCGCCAN0.486632794142intergenic
chr163396480533964807CCGTCAN0.486632794142intergenic
chr163396509033965090GAD1.0intergenic
chr163396589833965900GGAAGGD0.999991059303intergenic
chr163396589833965900GGAGGGD0.999991059303intergenic
chr163396603633966036AGrs77569093D0.999997973442intergenic
chr163396606233966063CCATD0.999998569489intergenic
chr1635583893558389CTrs79133712N0.00142579001840.0549121DDDNnonsynonymous SNVCLUAP1
NM_0150414320107A=>VCAPAN-2testis
chr1641667014166701CGrs2530895N0.1428724974391upstreamADCY9
adenylate cyclase 9EFO-21thyroid gland
chr16417281417281GArs62032959N4.041009106e-060.213658downstreamMRPL28
mitochondrial ribosomal protein L28MCF-7testis
chr16417289417289CTrs62033860N9.61128716881e-060.213658downstreamMRPL28
mitochondrial ribosomal protein L28MCF-7testis
chr1641802444180244CTrs373416N3.30733723786e-060.321885intergenic
chr1641802744180274TCrs443271N1.30461876324e-050.322284intergenic
chr1641802914180291GArs400816N3.40726473951e-050.322284intergenic
chr1641803374180337GArs413580N3.05601770378e-060.321685intergenic
chr1641803714180371CTrs395738N8.4689763753e-060.321885intergenic
chr16420678420678CTrs3743884N0.4866327941420.597244upstream,downstreamMRPL28;TMEM8A
chr16422516422516TGrs62030794N0.191257521510.146366intronicTMEM8A
CACO-2placenta
chr1642337964233796GCrs4786462N0.4866327941420.203075intergenic
chr16424277424277GArs3743887N0.0001418939791620.143171NPPNnonsynonymous SNVTMEM8A
NM_021259101699567R=>WCACO-2placenta
chr16426432426432TCrs2071915N1.7407554509e-080.532548NNNNnonsynonymous SNVTMEM8A
NM_0212596928310I=>VCACO-2placenta
chr1644320294432029ACrs3810818N1.40289432693e-060.686302NNNNnonsynonymous SNVVASN
NM_13844021151384E=>AU-2197placenta
chr1644453274445327CTrs3747579N0.0005285388324410.507388DDDNnonsynonymous SNVCORO7
CORO7-PAM16
NM_024535
NM_001201479
NM_001201473
NM_001201472
7,7,5,7578,578,323,524193,193,108,175R=>Q,R=>Q,R=>Q,R=>Q
chr1644758684475868ATrs2304631N0.4866327941420.6637385-UTRDNAJA3
NM_001135110
NM_001286516
NM_005147
DnaJ (Hsp40) homolog, subfamily A, member 3RPMI-8226heart muscle
chr1645262924526292AGrs2270363N0.4866327941420.682907intronicHMOX2
MCF-7testis
chr164996996349969963CTrs4785369N1.74923997065e-070.534545intergenic
chr1650979475097947AGrs1127920N3.30695888806e-060.226038NPNNnonsynonymous SNVC16orf89
NM_152459
NM_001098514
7,7887,887296,296L=>S,L=>SNTERA-2thyroid gland
chr165118602551186025CGrs62039688N0.07609091699120.478435upstreamSALL1
sal-like 1 (Drosophila)NTERA-2kidney
chr1652890025289002GCrs11648387N2.69249872398e-100.953474intergenic
chr165535768155357681GArs2588994N0.1236227005720.312101upstreamIRX6
Iroquois related homeobox 6 (Drosophila)SK-MEL-30adipose tissue
chr165580930555809305ACrs28458414N8.34601848965e-070.650958downstreamCES1P1
chr165670057856700580CTACTTTAD0.936779558659downstreamMT1G
U-937thyroid gland
chr16570454570454TCrs11863276N6.96446207371e-080.791534intronicRAB11FIP3
RAB11 family interacting protein 3 (class II)REHkidney
chr165705080957050809AGrs16942393N3.16084765473e-060.491813upstreamNLRC5
NB-4spleen
chr165878285958782859AGrs1657167N5.65371101402e-060.679912intergenic
chr165920073559200735GArs11648712N1.26778268168e-050.391973intergenic
chr166521060465210604GCrs8061375N8.0440175354e-110.747204upstreamLOC101927650
chr166561054965610549TCrs10852425N2.03470951199e-090.828674upstreamLINC00922
chr16679241679241GTrs17555255N0.1990865021940.005790733-UTRRAB40C
NM_001172663
NM_001172664
NM_001172665
NM_001172666
NM_021168
Rab40c, member RAS oncogene familyMCF-7skin
chr167001194770011949CTGCTATGN0.193620219827ncRNAPDXDC2P
chr167083509970835099GArs8054131N0.4866327941420.692093upstream,downstreamVAC14;HYDIN
chr167215351872153518GArs186286N1.64396674052e-080.973243intronicPMFBP1
polyamine modulated factor 1 binding protein 1SCLC-21Htestis
chr167445530274455302AGrs3851723N0.4866327941425-UTRCLEC18B
NM_001011880 K-562kidney
chr167480873774808737CGrs8056865N0.06207001954320.685104upstreamFA2H
fatty acid 2-hydroxylaseA-549stomach
chr167487795674877956AGrs7189084N8.13342992956e-090.727037intergenic
chr16810844810844TArs145097314N0.06089391931890.0061901intronicMSLN
mesothelinCAPAN-2lung
chr16818452818452GArs150425699N0.4866327941420.0061901DNNNnonsynonymous SNVMSLN
NM_005823
NM_013404
17,161670,1694557,565R=>H,R=>HmesothelinCAPAN-2lung
chr16820328820328ACrs3765328N1.97208276376e-080.476438downstreamMIR662
chr16820888820888TCrs12599339N2.20236943278e-050.370407NNNNdownstreamMIR662
chr16824837824838CGTAN0.486632794142intergenic
chr16825255825255GArs73491269N0.0006583976792170.177516DDDNintergenic
chr16830207830207GArs146766444N1.35632926686e-050.00778754intergenic
chr16836507836510CCTGCGN0.000146624093759intronicRPUSD1
MCF-7lymph node
chr168398657583986575CTrs12929571N0.05469949170950.611022upstreamOSGIN1
oxidative stress induced growth inhibitor 1Hep-G2liver
chr168398663683986636GCrs12929854N0.008030858822170.608227upstreamOSGIN1
oxidative stress induced growth inhibitor 1Hep-G2liver
chr16841540841540CGrs147815583N0.01119743194430.00778754intronicCHTF18
CTF18, chromosome transmission fidelity factor 18REHbone marrow
chr16841802841802CTrs143006475N0.4980454146860.00758786intronicCHTF18
CTF18, chromosome transmission fidelity factor 18REHbone marrow
chr16842518842518CTrs35387463N0.0001845179940570.00758786NNNNnonsynonymous SNVCHTF18
NM_022092111406469S=>LCTF18, chromosome transmission fidelity factor 18REHbone marrow
chr168465175784651757GCrs71390484N0.486632794142upstreamCOTL1
WM-115lymph node
chr16848000848000CTrs148471037N6.61268932163e-050.006988823-UTRCHTF18
NM_022092 CTF18, chromosome transmission fidelity factor 18REHbone marrow
chr16848717848717GCrs146909074N6.38193450868e-050.006389783-UTRGNG13
NM_016541 MCF-7cerebral cortex
chr168547433385474333CTrs28499043N3.8344151676e-070.814297intergenic
chr16855885855885AGrs147922685N0.0001698281703280.0153754NNNnonsynonymous SNVPRR25
NM_0010136381443148K=>RHEK-293adipose tissue
chr168578508785785087AGrs301142N5.48951493329e-060.985423upstreamC16orf74
EFO-21urinary bladder
chr1685887148588714TCrs9932129N3.70287380065e-050.194888upstreamTMEM114
Hep-G2heart muscle
chr16863398863398CTrs13337837N6.07459742241e-060.0994409DDNnonsynonymous SNVPRR25
NM_0010136383746249P=>LHEK-293adipose tissue
chr16863498863498GCrs13333991N2.93857660427e-100.191893DDNnonsynonymous SNVPRR25
NM_0010136383846282L=>FHEK-293adipose tissue
chr168659167686591676GArs6539953N3.78125889711e-070.914537downstreamFLJ30679
chr168811130888111308ACrs11117359N2.09295554694e-180.985623downstreamBANP
BEWOovary
chr168850674188506741AGrs3848234N9.71833287622e-060.8408553-UTRZNF469
NM_001127464 THP-1ovary
chr168860230388602307TGGCTTGCTN0.280226767063downstreamZFPM1
K-562stomach
chr168863334788633347GTrs8057773N7.51898255658e-070.48742intergenic
chr168863335488633354AGrs6500476N6.73204292312e-090.83726intergenic
chr168872353888723550TGGGGGGGGGTCTTGGGGGGGGGGTCTN0.486864060163intronicMVD
CAPAN-2colon
chr168876356188763561TCrs4597303N9.67261985352e-060.9610623-UTRRNF166
NM_001171816
NM_001171815
NM_178841
NB-4bone marrow
chr168906277689062776CTrs10852634N4.80556423099e-070.882788intergenic
chr168922128789221287GCrs78403542N5.62642671866e-050.150163-UTRACSF3
NM_001127214
NM_001243279
NM_001284316
NM_174917
U-698duodenum
chr168926709689267096CArs74899331N6.27569825156e-050.153155upstreamSLC22A31
Hep-G2lung
chr1689632148963214AGrs1657089N0.001360208843830.995407upstreamCARHSP1
calcium regulated heat stable protein 1Hep-G2testis
chr168988280789882807GTrs78004870N0.02945588529110.573682intronicFANCA
FANCONI ANEMIA, COMPLEMENTATION GROUP ANB-4lymph node
chr169003945090039450GCrs11649211N0.02240070141850.652356ncRNAAFG3L1P
chr16961051961054CCCCTCCTN0.309854775667nonframeshift substitutionLMF1
NM_0227734540 RPMI-8226pancreas
chr16984113984113CArs11248955N1.46161596604e-060.491014ncRNALMF1-AS1
chr16997473997475TGCCGTN0.0248033385724intronicLMF1
RPMI-8226pancreas
chr1710830831083083AGrs62070499N0.08693931251760.7468055-UTRABR
NM_021962 active BCR-related geneU-87-MGcerebral cortex
chr1713961971396197CGrs4606774N4.76293102736e-080.556909upstreamMYO1C
myosin ICA-549adipose tissue
chr1716373021637303AAGCN0.0481693558395nonframeshift substitutionWDR81
NM_001163673
NM_001163809
NM_152348
NM_001163811
7,7,8,71362,4971,1818,1290 WD repeat domain 81A-549spleen
chr1716453131645313AGrs62090054N0.000166040685144upstreamSERPINF2
serine (or cysteine) peptidase inhibitor, clade F, member 2Hep-G2liver
chr1716864101686410TCrs9902398N3.85321521868e-140.776757NNNNnonsynonymous SNVSMYD4
NM_052928102180727Y=>CSET and MYND domain containing 4CACO-2adipose tissue
chr171687563616875636CArs4985754N0.3852766454220.202276upstreamTNFRSF13B
IMMUNODEFICIENCY, COMMON VARIABLE, 2Karpas-707spleen
chr171689078216890782TArs6502550N1.55566282851e-161intergenic
chr171738886017388860AGrs2141116N5.28655591525e-110.972644intronicMED9
MOLT-4heart muscle
chr1719428611942861CTrs7207466N1.45930391682e-060.757588intronicDPH1
DPH1 homolog (S. cerevisiae)HEK-293prostate
chr1719530371953037ACrs2957924N0.03471293672920.897165downstreamMIR132
MIR212
chr172088572720885727TArs4985948N2.07770444831e-050.709665downstreamLOC339260
chr172131193221311932AGrs1714904N0.0001737027487255-UTRKCNJ12
NM_021012
NM_001194958
potassium inwardly-rectifying channel, subfamily J, member 12SCLC-21Hheart muscle
chr172132385921323862CCCCTCATN0.00508194137365downstreamKCNJ12
potassium inwardly-rectifying channel, subfamily J, member 12SCLC-21Hheart muscle
chr172132385921323862CCCCTCCCN0.00508194137365downstreamKCNJ12
potassium inwardly-rectifying channel, subfamily J, member 12SCLC-21Hheart muscle
chr172154935621549356GArs62049745N1.90753416973e-05intergenic
chr172154974121549745GCACAACACGN6.14065793343e-05intergenic
chr172154974121549745GCACAGCACGN6.14065793343e-05intergenic
chr172182096321820963TGrs9899382N3.95468147119e-090.989417intergenic
chr172989166929891669GTrs8081211N2.80319534945e-110.42472intergenic
chr173015917830159178TCrs7221594N3.77324695933e-080.886581intergenic
chr1731955033195503CTrs703903N4.17194905822e-060.55012DDDNnonsynonymous SNVOR3A1
NM_0025501374125R=>QHDLM-2testis
chr1732136903213690TCrs61734050N2.46566960413e-050.108626ncRNAOR3A4P
chr1732141813214181TGrs231678N3.06759943669e-070.436901ncRNAOR3A4P
chr1734621303462130TArs322957N0.4866327941420.288938upstreamTRPV3
transient receptor potential cation channel, subfamily V, member 3CACO-2skin
chr173558188735581912TTATATATATATATATATATATATACTTATATATATATATATATATATACD0.866300702095intronicACACA
acetyl-Coenzyme A carboxylase alpha
chr173897530738975332TGCCGCCGTGGCCGCCGCCGTGGCCGTGCCGCCGTGGCCGN0.486632794142nonframeshift substitutionKRT10
NM_00042171455 HaCaTskin
chr173897530738975332TGCCGCCGTGGCCGCCGCCGTGGCCGTGCCGCCGTGGCCGCCGCCGTAGCCGN0.486632794142nonframeshift substitutionKRT10
NM_00042171455 HaCaTskin
chr1739530803953083GACTAACCN0.486632794142nonframeshift substitutionZZEF1
NM_015113375934 zinc finger, ZZ-type with EF hand domain 1HMC-1small intestine
chr1739530803953083GACTGACCN0.486632794142nonframeshift substitutionZZEF1
NM_015113375934 zinc finger, ZZ-type with EF hand domain 1HMC-1small intestine
chr173964149939641499CTrs7224654N1.20137769954e-070.624601downstreamKRT36
keratin 36Karpas-707spleen
chr173989071539890715ATrs4796603N0.00405051792040.769968NPPNnonsynonymous SNVHAP1
NM_001079871
NM_177977
NM_001079870
1,1,1172,172,17258,58,58S=>T,S=>T,S=>Thuntingtin-associated protein 1REHstomach
chr173995918939959189CGrs1065029N4.16910559894e-120.9111423-UTRP3H4
NM_006455
chr174007541340075413AGrs8077121N0.02620853483680.897963upstreamACLY
ATP citrate lyaseA-549prostate
chr174136188141361914ATTTTTTTTTTTTTTTTTGCTTTGCTTGTCTCTAATTTTTTTTTTTTTTTGCTTTGCTTGTCTCTAD0.999930381775intronicNBR1
neighbor of Brca1 gene 1U-138-MGtestis
chr174138191641381916AGrs4027820D0.987441658974upstreamLINC00854
chr174138192641381926AGrs2356320D0.980338811874upstreamLINC00854
chr174138194241381942TCrs2356319D0.999221801758upstreamLINC00854
chr174138198141381981TCrs2356318D0.7703743577upstreamLINC00854
chr174146651541466517TCTCCCD0.999802291393upstreamLINC00910
chr174146652241466522TGrs144280248D0.997809946537upstreamLINC00910
chr174194036041940360GTrs231543N1.68811353785e-100.7837463-UTRCD300LG
NM_145273 CD300 antigen like family member GBEWOadipose tissue
chr174200244642002446TGrs1731900N2.31038507081e-060.204273intergenic
chr174220104142201041GTrs112114764N0.4866327941420.407947upstreamHDAC5
histone deacetylase 5THP-1skin
chr174229698142297006TGGCGGCGGCGGCGGCGGCGGCGGCTTGGCGGCGGCGGCGGCGGCTN0.4474638998515-UTRUBTF
NM_001076684
NM_014233
upstream binding transcription factor, RNA polymerase IDaudilymph node
chr174367772743677727TCrs2693342N1.11630503452e-100.971246ncRNALOC644172
chr174504414745044147CArs11079745N7.86950749898e-060.4398963-UTRGOSR2
NM_001321133 PC-3duodenum
chr174505118345051183GArs7211367N4.10862952549e-080.708267downstreamMIR5089
chr174505129645051296ATrs7215119N5.74958436417e-090.708466downstreamMIR5089
chr174505480645054806ACrs3851790N0.001587042934260.810703downstreamRPRML
Daudicerebral cortex
chr174593334145933341TCrs8064241N2.18474807689e-100.474441upstreamSP6
trans-acting transcription factor 6BEWOplacenta
chr174610290446102904GArs33983467N0.01306749973450.267971downstreamCOPZ2
U-87-MGadipose tissue
chr1746370164637016CTrs4790696N2.54024662416e-100.9756393-UTRCXCL16
NM_022059 chemokine (C-X-C motif) ligand 16A-431lung
chr174665333246653332TCrs6504397N1.86307219652e-110.93753-UTRHOXB4
NM_024015 homeobox B4EFO-21adipose tissue
chr1746864634686465ACGACGCCTACCTGGCTCGD0.9839670062073-UTRTM4SF5
NM_003963 Hep-G2duodenum
chr1746891944689198ACCATACATN0.00146927498281frameshift substitutionVMO1
NM_0011449392345 vitelline membrane outer layer 1 homolog (chicken)MCF-7spleen
chr1746895724689572TCrs4790706N2.25468532733e-090.533546NNNNnonsynonymous SNVVMO1
NM_001144940
NM_001144939
NM_001144941
NM_182566
1,1,1,176,26,76,26,76,26,76,2626,26,26,26T=>A,T=>A,T=>A,T=>Avitelline membrane outer layer 1 homolog (chicken)MCF-7spleen
chr1747041534704153CTrs8081550N1.98133093363e-050.573682intergenic
chr174824042048240452TGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAAATGAAGGAAGGAAGGAAGGGAGGAAGGAAAN0.000334326730808intergenic
chr174878516548785165CTrs8068442N0.4866327941420.9980035-UTRANKRD40
NM_052855 CACO-2adipose tissue
chr174883405348834096CAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACCTAAATGTATGCAAAAAAAAAAAAAAAAAAAAAAAAGAAACCTAAATGTATGN0.000537936924957intergenic
chr174898785148987851TCrs887377N8.88383292486e-180.854433intergenic
chr174937532549375344AACACACACACACACAAACTAACACACACACACAAACTN0.108350411057downstreamUTP18
UTP18, small subunit (SSU) processome component, homolog (yeast)U-266/84testis
chr175502892855028928AGrs4794675N1.54771143457e-070.903954intronicCOIL
coilinU-266/84testis
chr1756760385676038GArs12450161N6.45069121674e-060.446685ncRNALOC339166
chr176185158861851604CGGCGGTGGTGGTGGTGCGN0.4866327941425-UTRDDX42
NM_007372
NM_203499
DEAD (Asp-Glu-Ala-Asp) box polypeptide 42U-138-MGovary
chr176188869361888693TArs2584629N2.72296030168e-090.987021intronicDDX42
DEAD (Asp-Glu-Ala-Asp) box polypeptide 42U-138-MGovary
chr176190446561904467CTACGTAN0.4866327941425-UTRFTSJ3
NM_017647 FtsJ homolog 3 (E. coli)SH-SY5Ykidney
chr176355792063557920AGrs62065660N0.1202085092660.914537upstreamAXIN2
axin2Hep-G2uterus
chr176496067764960677AGrs111259345N1.66000296842e-100.782348upstreamCACNG4
calcium channel, voltage-dependent, gamma subunit 4SH-SY5Ycerebral cortex
chr1765590406559040GArs28504521N0.0187278259546upstream,downstreamMIR4520-1;MIR4520-2
chr176614881266148820CGGGTGGTCCGGGGTGGTCN0.0131171727553intergenic
chr1766528906652890AGrs1567346N1.58995963062e-080.648163intergenic
chr176654204866542048TCrs4968808N0.002154553541910.20627intronicFAM20A
PRKAR1A
chr1770110817011088CACACGTACAN0.000820443208795intronicASGR2
asialoglycoprotein receptor 2Hep-G2liver
chr1770110817011088CACACGTACACACGTACACATTACACACACCGCAN0.000760556489695intronicASGR2
asialoglycoprotein receptor 2Hep-G2liver
chr1770120737012079GGCCCCCTGCCTCTN0.00703720608726nonframeshift substitutionASGR2
NM_001181
NM_080914
NM_080912
3,2,3253,196,253 asialoglycoprotein receptor 2Hep-G2liver
chr1771232407123256TGGGCGTGCAGGACGCCTGGGCGTGCAGGACGCGGGCGTGCAGGACGCCN0.4866327941425-UTRACADVL
NM_000018
NM_001033859
NM_001270448
NM_001321074
NM_001365
VLCAD DEFICIENCYHDLM-2duodenum
chr1771277187127718TCrs17671352N1.14374852274e-050.519768intronicACADVL
VLCAD DEFICIENCYHDLM-2duodenum
chr1771653957165403CGGGGAGACCGGGAGACN0.4866327941425-UTRCLDN7
NM_001185023
NM_001307
NM_001185022
HaCaTcolon
chr1771977947197794CArs222859N4.55148295941e-070.719449NNNNnonsynonymous SNVYBX2
NM_0159821269G=>VY box protein 2MCF-7testis
chr1772921077292107GArs6503018N2.98995871617e-070.725639NNDnonsynonymous SNVTNK1
NM_001251902
NM_003985
12,121792,1777598,593V=>M,V=>Mtyrosine kinase, non-receptor, 1HaCaTstomach
chr1772937157293715CTrs3744549N5.19803870702e-060.525359NNNNnonsynonymous SNVPLSCR3
NM_020360
NM_001201576
8,8877,877293,293V=>I,V=>Iphospholipid scramblase 3
chr1772974527297452AGrs4613118N0.0002847611031030.545128ncRNATMEM256-PLSCR3
TIMEspleen
chr1773222457322245AGrs3174744N1.46488190467e-080.456073-UTRNLGN2
NM_020795 neuroligin 2AN3-CAcerebral cortex
chr1773588617358861TCrs2302762N0.4866327941420.476038intronicCHRNB1
cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)RH-30adrenal gland
chr177467053374670533TCrs2898621N3.19383897107e-090.8995613-UTRMXRA7
NM_001008528 matrix-remodelling associated 7U-87-MGheart muscle
chr177470705074707050GCrs71383084N0.002000375185160.943495-UTRMXRA7
NM_001008528
NM_001008529
NM_198530
matrix-remodelling associated 7U-87-MGheart muscle
chr177470736174707361GArs12951649N1.14255581138e-050.942891upstreamMXRA7
matrix-remodelling associated 7U-87-MGheart muscle
chr177472893874728938CTrs4789351N0.2602237761020.888978intronicMETTL23
SK-MEL-30testis
chr1774852067485206AGrs1143015N1.72548570845e-050.6415733-UTRCD68
NM_001251
NM_001040059
CD68 antigenU-87-MGspleen
chr1774903797490379GCrs2302661N1.52382672453e-110.446486intronicMPDU1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ifmannose-P-dolichol utilization defect 1U-251-MGliver
chr177552245275522452CGrs35551889N2.05530727726e-060.365216intergenic
chr1775786457578645CTrs2909430N2.12150838563e-100.8428515-UTRTP53
NM_001126115
NM_001126116
NM_001126117
NM_001276697
NM_001276698
NM_001276699
COLORECTAL CANCERREHlymph node
chr1775787117578736CTTTTTTTTTTTTTTTTTTGAGATAGCTTTTTTTTTTTTTTTGAGATAGN0.1375900655985-UTRTP53
NM_001126115
NM_001126116
NM_001126117
NM_001276697
NM_001276698
NM_001276699
COLORECTAL CANCERREHlymph node
chr1775798017579801GCrs1642785N4.95355561725e-050.5848645-UTRTP53
NM_001126118 COLORECTAL CANCERREHlymph node
chr177613871076138710AGrs11650029N3.1291427149e-050.07288343-UTRTMC8
NM_152468 EPIDERMODYSPLASIA VERRUCIFORMIStransmembrane channel-like gene family 8HMC-1lymph node
chr1776153647615364TCrs3948593N2.59036596617e-080.93131downstreamEFNB3
ephrin B3AN3-CAcerebral cortex
chr177627509476275094GCrs4789570N1.30689059574e-070.973043upstreamLOC100996291
chr1776910537691081TAAAAAAAAAAAAAAAAAAAGCAAATCGTTAAAAAAAAAAAAAAAAAAGCAAATCGTN0.00537469098344intronicDNAH2
CACO-2testis
chr1777007127700712CTrs1565817N1.99001133296e-050.533946intronicDNAH2
CACO-2testis
chr1777501777750219TACCACCACCACCACCACCACCACCACCACCACCACCACCCCTTACCACCACCACCACCACCACCACCACCACCACCCCTN0.00157358113211nonframeshift substitutionKDM6B
NM_0010804249752 KDM1 lysine (K)-specific demethylase 6BSH-SY5Yurinary bladder
chr1777884097788409CGrs201772788N0.0545219816267intronicCHD3
chromodomain helicase DNA binding protein 3AN3-CAprostate
chr177790933977909339AGrs2650243N4.93184643346e-070.975043-UTRTBC1D16
NM_001271844
NM_001271845
NM_019020
TBC1 domain family, member 16SK-MEL-30adipose tissue
chr177791205177912051CGrs2587512N1.70272834461e-120.9638583-UTRTBC1D16
NM_001271844
NM_001271845
NM_019020
TBC1 domain family, member 16SK-MEL-30adipose tissue
chr177822802378228033GCCTCCTCCCAGCCTCCCAN0.00107466697227downstreamSLC26A11
solute carrier family 26, member 11SH-SY5Yadrenal gland
chr177961582579615825GArs9890264N0.2126596122980.669529downstreamTSPAN10
tetraspanin 10
chr1780557238055723AGrs3027172N0.0007543902611360.1046335-UTRPER1
NM_002616 period homolog 1 (Drosophila)Karpas-707bone marrow
chr1782164688216468TCrs871841N1.36636538173e-060.621006NNNNnonsynonymous SNVARHGEF15
NM_025014
NM_173728
3,3830,830277,277L=>P,L=>PRho guanine nucleotide exchange factor (GEF) 15TIMEadipose tissue
chr1782436618243661GArs12601097N2.24749037443e-050.538938NNNNnonsynonymous SNVODF4
NM_153007129298V=>Mouter dense fiber of sperm tails 4RT-4testis
chr1783786938378694GATCN0.4582782983783-UTRMYH10
NM_001256012
NM_001256095
NM_005964
myosin, heavy polypeptide 10, non-muscleREHlung
chr1787252128725218GCAGGAAACAGGGAAD0.91521281004exonicPIK3R6
phosphoinositide-3-kinase, regulatory subunit 6
chr1787252128725218GCAGGAAGCAGGGAAD0.91521281004exonicPIK3R6
phosphoinositide-3-kinase, regulatory subunit 6
chr1790862289086228CArs2302196N1.5188981024e-060.322284intronicNTN1
netrin 1BEWOheart muscle
chr1790865619086561CArs16957995N5.35814194791e-070.322684intronicNTN1
netrin 1BEWOheart muscle
chr18108329108329AGrs34310130D1.0upstreamROCK1P1
chr181361254413612563ACCCCCCCCCCCTCCACGCTACCCCCCCCCCCCTCCACGCTN0.4866327941425-UTRLDLRAD4
NM_001003674
NM_001003675
MOLT-4cerebral cortex
chr181361254413612563ACCCCCCCCCCCTCCACGCTACCCCCCCCCCTCCACGCTN0.4866327941425-UTRLDLRAD4
NM_001003674
NM_001003675
MOLT-4cerebral cortex
chr182189855621898556TCrs12955338N0.001586400088850.117812intronicOSBPL1A
oxysterol binding protein-like 1AAN3-CAcerebral cortex
chr182353313323533133TCrs8082926N1.57567003889e-090.802117intergenic
chr183035205730352096GCGCCGGCCCGCCGGCCCGCCGGCCCGCCCGCCCGGGGGAGCGCCGGCCCGCCGGCCCGCCCGCCCGGGGGAN0.108723260462intronicKLHL14
kelch-like 14 (Drosophila)Hep-G2thyroid gland
chr183284745132847465CCGGCGGCGGCGGGACCGGCGGCGGGAN0.4866327941425-UTRZSCAN30
NM_001166012 zinc finger and SCAN domain containing 30U-138-MGthyroid gland
chr183291778032917790GAAAAGAAACCGAAAAAGAAACCN0.324020087719intronicZNF24
HL-60thyroid gland
chr183304855433048554CTrs3088182N3.34233627655e-050.237423-UTRINO80C
NM_001308064
NM_001098817
NM_194281
U-698testis
chr184342017743420177GArs61104666N3.75674291675e-090.252995synonymous SNVSIGLEC15
NM_2136025876292E=>Esialic acid binding Ig-like lectin 15U-87-MGsmall intestine
chr184384465843844658ACrs8086610N1.60964430052e-060.5331473-UTRC18orf25
NM_001008239
NM_145055
HaCaTesophagus
chr184433713844337138GTN3.87071049772e-050.000399361upstreamST8SIA5
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5WM-115adrenal gland
chr184433807244338072TCrs3809961N7.4003651207e-080.615016upstreamST8SIA5
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5WM-115adrenal gland
chr184571174045711740TCrs12455480N2.23994493354e-060.203075intronicZBTB7C
zinc finger and BTB domain containing 7CRT-4esophagus
chr184600480946004809TCrs7231325N4.80447279183e-120.909944intergenic
chr184638594846385948AGrs3752082N1.08593667392e-060.5738823-UTRCTIF
NM_001142397
NM_014772
CBP80/20-dependent translation initiation factorU-2-OSadipose tissue
chr184638788946387889AGrs3809921N2.51902925186e-080.5706873-UTRCTIF
NM_001142397
NM_014772
CBP80/20-dependent translation initiation factorU-2-OSadipose tissue
chr185043260250432602CGrs2229080N6.56924885334e-060.477436NPPNnonsynonymous SNVDCC
NM_0052153601201R=>Gdeleted in colorectal carcinomaU-266/70testis
chr185281434852814348CTrs56291064N9.5080366691e-070.239417intergenic
chr1856291745629174AGrs12051981N2.48244589329e-080.924321upstreamEPB41L3
TIMEtestis
chr185759784257597842TCrs9952602N4.29047624095e-080.920327intergenic
chr1858925175892517TCrs9948128N3.51735141013e-100.5002upstreamTMEM200C
PC-3adrenal gland
chr186139383461393834CTrs931850N2.41503983034e-070.704673intergenic
chr1865111036511103TCrs4798451N1.31536066761e-110.970248upstreamLINC01387
chr186761467467614689TAAAAAAAAAAATTGCTAAAAAAAAAAAATTGCN1.32844322209e-085-UTRCD226
NM_001303618 CD226 antigenHELspleen
chr187021078170210781GArs4961397N7.82467868277e-090.46845intronicCBLN2
cerebellin 2 precursor proteinSH-SY5Ycerebral cortex
chr187218857472188578TAACGTACGN0.04925983026623-UTRCNDP2
NM_018235
NM_001168499
CNDP dipeptidase 2 (metallopeptidase M20 family)RPMI-8226kidney
chr187427271174272711GArs7228932N3.26798317474e-060.413538downstreamLINC00908
THP-1ovary
chr187427274374272743TArs7234659N8.95659127309e-070.515775downstreamLINC00908
THP-1ovary
chr187447113374471133GCrs60137918N5.91719299337e-070.26278intergenic
chr187496167574961675TGrs11151014N8.95957346074e-050.355831upstreamGALR1
galanin receptor 1SCLC-21Hadrenal gland
chr187496168774961687AGrs11151015N1.05130075099e-050.359425upstreamGALR1
galanin receptor 1SCLC-21Hadrenal gland
chr187724640677246406TGrs754093N4.07174127304e-070.338858DPNNnonsynonymous SNVNFATC1
NM_006162
NM_172388
NM_172387
NM_172389
NM_001278673
NM_001278669
9,8,9,9,8,92251,751,835,279,2212,738,2212,738,835,279,2251,751751,279,738,738,279,751C=>G,C=>G,C=>G,C=>G,C=>G,C=>Gnuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1U-698lymph node
chr187734987477349874AGrs4465664N1.00651625923e-100.70627intergenic
chr187743925877439258AGrs978579N0.4866327941420.738219ncRNALOC284241
chr191019748810197490GGCGCGCD0.999987483025intronicC19orf66
SK-MEL-30liver
chr191033444310334443ACrs2116941N4.81630024751e-070.7727643-UTRS1PR2
NM_004230 U-698placenta
chr191044656810446568TCrs2304237N0.0002297920291310.179513NNNNnonsynonymous SNVICAM3
NM_0021623428143P=>RKarpas-707bone marrow
chr191044935810449358TCrs7258015N1.16986313969e-080.178914NNNNnonsynonymous SNVICAM3
NM_0021622343115P=>AKarpas-707bone marrow
chr191066463210664632AGrs3087689N1.4159550199e-090.294529DNNNnonsynonymous SNVKRI1
NM_023008192125709S=>PKRI1 homolog (S. cerevisiae)HELlymph node
chr191079479310794793CTrs892087N3.53517819462e-080.572484intronicILF3
interleukin enhancer binding factor 3NB-4bone marrow
chr191082443510824453CTTTTTTTTTTTTTTCCGACTTTTTTTTTTTTTCCGAN0.0295836105943downstreamQTRT1
queuine tRNA-ribosyltransferase 1NB-4colon
chr191126658411266584AGrs892114N0.4866327941420.719649upstreamSPC24
Karpas-707bone marrow
chr191135879911358799GArs12978266N1.33938399927e-070.519569DDPNnonsynonymous SNVDOCK6
NM_0208127749250P=>Ldedicator of cytokinesis 6TIMEadipose tissue
chr191137364111373641GArs56965685N1.12756185899e-060.55651upstreamDOCK6
dedicator of cytokinesis 6TIMEadipose tissue
chr191145966511459667GAGGAAGN0.000146206089994intronicCCDC159
coiled-coil domain containing 159Karpas-707prostate
chr191150817711508177GArs2291516N7.43544933357e-060.210463NNNNnonsynonymous SNVRGL3
NM_001161616
NM_001035223
17,171861,1843621,615R=>C,R=>Cral guanine nucleotide dissociation stimulator-like 3BEWOthyroid gland
chr191153070211530702TCrs318694N6.47495994599e-080.957268upstream,downstreamRGL3;CCDC151
chr191172750311727503TCrs4545929N2.28489449583e-090.384585intronicZNF627
SCLC-21Hthyroid gland
chr191187170611871706GCrs6511754N2.63796778199e-070.622204intergenic
chr191209076512090765CArs279142N3.40048457341e-170.856433-UTRZNF763
NM_001012753 BEWOovary
chr1912575371257539CGTCTCTGTD0.9999997615813-UTRMIDN
NM_177401 midnolinNTERA-2bone marrow
chr191268735612687356GCrs8101987N1.07080122689e-050.4652563-UTRZNF490
NM_020714 U-266/84thyroid gland
chr191300240013002400GCrs1799918N0.0003290570166430.253195intronicGCDH
glutaryl-Coenzyme A dehydrogenaseU-266/70liver
chr191307998413079984TCrs7250153N3.50332922394e-111upstreamDAND5
SH-SY5Yheart muscle
chr191394688613946886TCrs345638N1.14993760292e-070.997804ncRNALOC284454
chr191418357714183577CGrs899170N9.27275820573e-080.492812upstreamMIR1199
MISP3
chr191418522614185226TCrs7258963N0.008144045248630.496006NNnonsynonymous SNVMISP3
NM_0012912912593198V=>A
chr191419169414191721GGGGGAGGGGAGGGGAGGGGAGGAGAACGGGGGAGGGGAGGGGAGGAGAACN0.130821689963downstreamC19orf67
Dauditestis
chr191477955014779550CArs4239642N1.8829369175e-090.857428intronicADGRE3
chr191497569314975693TArs11085913N2.72706870419e-070.835463intergenic
chr1915075351507535TCrs791461N2.08197988627e-070.534944intronicADAMTSL5
ADAMTS-like 5CACO-2heart muscle
chr191519863115198631ACrs8105737N3.52098933343e-100.490815DDDNnonsynonymous SNVOR1I1
NM_0010047131755252Y=>SA-431adipose tissue
chr1915269311526931ACrs2656858N7.90670376394e-110.6890975-UTRPLK5
NM_001243079 polo-like kinase 5Dauditestis
chr1915353491535349GArs265281N5.78830814391e-080.7681713-UTRPLK5
NM_001243079 polo-like kinase 5Dauditestis
chr191577001815770020TCCCCTN0.00249279197305intronicCYP4F3
CAPAN-2liver
chr191578316215783162GArs5022665N1.57198467576e-080.927117upstreamCYP4F12
HaCaTduodenum
chr191583874615838746AGrs11672695N7.58750672958e-070.557708upstreamOR10H2
RT-4urinary bladder
chr191583875315838759AGGCGCTAGCGCTN0.486632794142upstreamOR10H2
RT-4urinary bladder
chr191590594115905941TCrs56117700N1.01322825685e-060.713259downstreamOR10H5
A-431testis
chr191622229616222296ACrs16981113N0.4866327941420.195487upstreamRAB8A
RAB8A, member RAS oncogene familyHELliver
chr191622232516222325GCrs62117903N0.1961649358270.195487upstreamRAB8A
RAB8A, member RAS oncogene familyHELliver
chr191658975016589750TCrs8103521N2.23736705607e-070.659944downstreamCALR3
calreticulin 3BEWOtestis
chr191698845616988456AGrs2303090N6.85437262504e-110.633586intronicSIN3B
transcriptional regulator, SIN3B (yeast)BEWOuterus
chr191748860717488607GArs7257450N2.08745823329e-050.48742upstreamPLVAP
EFO-21thyroid gland
chr191751371517513715TGrs2303683N5.48437988357e-080.860024downstreamBST2
bone marrow stromal cell antigen 2Karpas-707ovary
chr191761737517617375GArs111740359N0.000188676174730.363019downstreamSLC27A1
solute carrier family 27 (fatty acid transporter), member 1SK-MEL-30ovary
chr191762239117622391AGrs879142N0.4283398985860.347843upstreamPGLS
PC-3spleen
chr191764306517643065TCrs12984143N8.99822012457e-080.744209intronicFAM129C
family with sequence similarity 129, member CDaudispleen
chr191769232417692324TGrs8100092N1.44444967098e-090.824883-UTRCOLGALT1
NM_024656 U-937placenta
chr1917805091780509TCrs7250253N2.24511564895e-090.463458intergenic
chr191827219018272190ACrs2241088N0.3741441667080.923922NNNNnonsynonymous SNVPIK3R2
NM_0050276700234S=>Rphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 2 (p85 beta)HEK-293skin
chr192198443921984439TCrs2359707N3.84127885056e-090.952276intergenic
chr192238001722380017GArs1852428N8.53810161061e-060.441294upstreamZNF676
NTERA-2testis
chr1922743592274359CTrs12985247N0.006794930901380.276558downstreamC19orf35
OAZ1
chr192308931623089316AGrs3862488N4.28591029333e-090.884784intergenic
chr1925207162520716TCrs1133692N2.9128608503e-070.5664945-UTRGNG7
NM_052847 REHcerebral cortex
chr1926425662642566GArs112167953N0.0002323660155530.101637intronicGNG7
REHcerebral cortex
chr1928975152897515GArs12982838N2.79651931123e-060.754193intergenic
chr1929008652900865GArs10420989N0.08488073945050.842252upstreamZNF57
RH-30testis
chr19292082292082CTrs3813154N8.13244405435e-050.449081upstreamPLPP2
chr192950519629505200ACACGCCACAN9.12626492209e-05downstreamLINC01532
chr193346762033467620TCrs7247715N7.26152151742e-080.9367013-UTRFAAP24
NM_001300978
NM_152266
chr193387948333879483AGrs889136N9.56745932479e-110.992013intronicPEPD
peptidase DA-549kidney
chr193485945734859457GArs2099099N5.11205227455e-120.685903intronicGPI
A-549heart muscle
chr193516862935168629GArs8106282N0.4866327941420.08406555-UTRZNF302
NM_001012320
NM_001289181
NM_001289182
NM_001289183
NM_001289184
NM_001289185
NM_001289186
NM_001289187
NM_001289188
NM_001289189
NM_001289190
NM_001289191
NM_001289192
NM_018443
NM_018675
U-266/84ovary
chr193543423835434238AGrs1811N2.99817982941e-110.586062NNNNnonsynonymous SNVZNF30
NM_194325
NM_001099438
NM_001099437
5,5,5368,371,371123,124,124Q=>R,Q=>R,Q=>RU-266/84urinary bladder
chr193543500635435006GArs1345658N2.14234672985e-300.652356NNNNnonsynonymous SNVZNF30
NM_194325
NM_001099438
NM_001099437
5,5,51136,1139,1139379,380,380R=>K,R=>K,R=>KU-266/84urinary bladder
chr193545460435454605AACGN0.04231284558775-UTRZNF792
NM_175872 HMC-1lung
chr193565515135655151TCrs1672994N0.005983307026330.847444intronicFXYD5
FXYD domain-containing ion transport regulator 5Karpas-707bone marrow
chr193566050835660508GArs12110N7.41514384117e-070.874002NNNNnonsynonymous SNVFXYD5
NM_001164605
NM_144779
NM_014164
9,9,9527,527,527176,176,176R=>H,R=>H,R=>HFXYD domain-containing ion transport regulator 5Karpas-707bone marrow
chr193584185835841858GArs1978014N4.10571104892e-100.739417upstreamFFAR1
U-698pancreas
chr193584398335843990ACCCCACGACCCCCACGN0.486632794142downstreamFFAR1
U-698pancreas
chr193585086335850863AGrs62109583N1.16205729483e-080.7921333-UTRFFAR3
NM_005304 RPMI-8226appendix
chr193588942935889429CArs12978607N5.11119833391e-060.63778intergenic
chr193623612036236120AGrs231597N0.04026446864010.984026intronicU2AF1L4
HMC-1thyroid gland
chr19374016374016GArs2303815N6.60068108118e-050.128395intronicTHEG
testicular haploid expressed geneHDLM-2testis
chr193744198037441980AGrs1644634N1.28121041554e-100.547923NNNNnonsynonymous SNVZNF568
NM_198539
NM_001204835
NM_001204837
NM_001204836
7,7,5,61925,1922,1733,1733642,641,578,578Q=>R,Q=>R,Q=>R,Q=>RU-266/84ovary
chr193748206837482068TGrs1644679N2.54489123108e-060.500399intronicZNF568
U-266/84ovary
chr193748829937488299AGrs1363752N3.00546289245e-110.496406NNNNnonsynonymous SNVZNF568
NM_001204838
NM_001204839
10,91706,1514569,505E=>G,E=>GU-266/84ovary
chr193748847237488472CGrs1644698N6.49217398591e-120.497005NNNNnonsynonymous SNVZNF568
NM_001204838
NM_001204839
10,91879,1687627,563P=>A,P=>AU-266/84ovary
chr193748867737488689GAAAAAAAAACTTGAAAAAAAAAACTTN0.008745926432313-UTRZNF568
NM_001204838
NM_001204839
U-266/84ovary
chr193748884537488845GCrs2547044N4.31132917811e-070.496406downstreamZNF568
U-266/84ovary
chr1937758563775856CTrs10410666N1.08850649383e-070.833666ncRNAMIR1268A
chr193870839838708398ACrs2304175N9.15790909772e-090.828474intronicDPF1
D4, zinc and double PHD fingers family 1SCLC-21Hcerebral cortex
chr193870956838709568CTrs2255456N2.98770402196e-070.825679intronicDPF1
D4, zinc and double PHD fingers family 1SCLC-21Hcerebral cortex
chr193874711738747117AGrs8100395N0.2322768419980.525165-UTRPPP1R14A
NM_001243947
NM_033256
protein phosphatase 1, regulatory (inhibitor) subunit 14AA-549adipose tissue
chr193874727238747272TCrs7247241N0.05546805262570.52476upstreamPPP1R14A
protein phosphatase 1, regulatory (inhibitor) subunit 14AA-549adipose tissue
chr193922194739221947ATrs4801859N4.12538447847e-090.258387intronicCAPN12
calpain 12HMC-1gallbladder
chr1939247713924787ATTTTTTTTTTTTAACGATTTTTTTTTTTAACGN0.0160565990955ncRNAMIR1268A
chr193943548539435485GArs10416055N7.60025272939e-070.830471intronicFBXO17
F-box protein 17A-549kidney
chr194007386540073865AGrs1433106N1.48277209178e-070.747204intergenic
chr194072187740721877GCrs8106744N0.0009091235697270.76238downstreamMAP3K10
TTC9B
chr194103649141036491GArs111741904N0.4866327941420.3204875-UTRSPTBN4
NM_025213 Karpas-707cerebral cortex
chr194103857441038574GArs814501N3.61261709259e-060.322684NPNNnonsynonymous SNVSPTBN4
NM_020971
NM_025213
19,23991,191331,7G=>S,G=>SKarpas-707cerebral cortex
chr194107789141077891CTrs8101070N6.46347252768e-050.30651intronicSPTBN4
Karpas-707cerebral cortex
chr194135066441350664ATrs1809810N2.04798666914e-090.986422nonsynonymous SNVCYP2A6
NM_00076281175392F=>YTEGAFUR, POOR METABOLISM OF CYP2A6*11HL-60liver
chr194138379941383799GArs3869579N0.008742478676140.519169DDDNnonsynonymous SNVCYP2A7
NM_000764
NM_030589
6,5931,778311,260R=>C,R=>CA-431liver
chr194138613641386136ACrs4142867N0.0005417437641880.519169NNNNnonsynonymous SNVCYP2A7
NM_000764
NM_030589
4,3507,354169,118D=>E,D=>EA-431liver
chr194138648641386487CAAGN0.0195694863796nonframeshift substitutionCYP2A7
NM_000764
NM_030589
3,2390,237 A-431liver
chr194138649441386494ACrs3815710N2.23429851758e-050.514976NNNNnonsynonymous SNVCYP2A7
NM_000764
NM_030589
3,2383,230128,77L=>R,L=>RA-431liver
chr194138870741388707TCrs3797218N5.22786240253e-060.514177upstreamCYP2A7
A-431liver
chr194190322041903220GArs10853751N0.4866327941420.614417NNNNnonsynonymous SNVEXOSC5
NM_0201581145T=>MHEK-293lymph node
chr194191994441919944ACrs3213861N1.66474819707e-050.616014intronicBCKDHA
branched chain ketoacid dehydrogenase E1, alpha polypeptideU-266/70heart muscle
chr194192886741928875GCCCACACTGCCCCACACTD0.570549249649intronicBCKDHA
branched chain ketoacid dehydrogenase E1, alpha polypeptideU-266/70heart muscle
chr194193145441931458AGGCCAGGCCAGGGCCGGGGCCN1.14649619718e-053-UTRB3GNT8
NM_198540 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8HMC-1duodenum
chr1942946234294623CArs58237134N0.0001337730063820.178514NNNNnonsynonymous SNVTMIGD2
NM_001169126
NM_001308232
NM_144615
4,3,4503,143,503168,48,168W=>L,W=>L,W=>LHELlymph node
chr1943025044302504CGrs888933N2.56455656711e-080.382987upstreamTMIGD2
HELlymph node
chr1943063114306311TCrs4807578N2.02779943947e-070.583267synonymous SNVFSD1
NM_024333322876R=>Rfibronectin type 3 and SPRY domain-containing proteinSH-SY5Ycerebral cortex
chr194324321743243218AAGGN0.000141227952554nonframeshift substitutionPSG3
NM_021016288 U-2197placenta
chr194324324843243248GArs12185500N1.26297507563e-070.656749intronicPSG3
U-2197placenta
chr194337115743371157CGrs1058817N0.0007051148568280.4037543-UTRPSG1
NM_001184825
NM_001184826
U-2197placenta
chr194338236843382368TGrs707745N0.0002281714259880.432308NNNNnonsynonymous SNVPSG1
NM_001184826
NM_006905
NM_001184825
NM_001297773
2,2,2,2127,127,127,12743,43,43,43T=>P,T=>P,T=>P,T=>PU-2197placenta
chr194338255843382585AACACACACACACACACACACACAAAAGAACACACACACACACACACACAAAAGN0.0108073400334intronicPSG1
U-2197placenta
chr194342045143420451GCrs3198831N1.48155886563e-050.453474NNNNnonsynonymous SNVPSG6
NM_001031850
NM_002782
2,2253,25385,85H=>D,H=>DU-2197placenta
chr194405019544050195CTrs25479N0.002028190298010.289337intronicXRCC1
X-ray repair complementing defective repair in Chinese hamster cells 1MOLT-4ovary
chr194405572644055726TCrs25487N1.74356353e-060.739617NNNNnonsynonymous SNVXRCC1
NM_006297101196399Q=>RX-ray repair complementing defective repair in Chinese hamster cells 1MOLT-4ovary
chr194497164744971647CGrs2571060N3.52080498089e-080.739816intergenic
chr194502121045021210GArs10414398N0.0001272281660930.1873DDnonsynonymous SNVCEACAM20
NM_001102600
NM_001102597
6,61106,1106369,369S=>F,S=>Fcarcinoembryonic antigen-related cell adhesion molecule 20
chr194502920845029208GArs10408247N0.0001685791212370.290535NNnonsynonymous SNVCEACAM20
NM_001102600
NM_001102599
NM_001102598
NM_001102597
2,2,2,2122,122,122,12241,41,41,41A=>V,A=>V,A=>V,A=>Vcarcinoembryonic antigen-related cell adhesion molecule 20
chr194518696545186965GCrs2289494N3.95648062923e-110.8608233-UTRCEACAM19
NM_001127893
NM_020219
TIMEskin
chr1945250464525046AGrs1610090N5.64503821465e-090.847244NNNNnonsynonymous SNVPLIN5
NM_0010137067763255C=>RBEWOsalivary gland
chr194526745145267455GAGATGAGAAGATN1.39176435709e-07intergenic
chr194532274445322744AGrs1135062N1.48420690493e-060.270367NNNNnonsynonymous SNVBCAM
NM_005581
NM_001013257
12,121615,539,1615,539539,539T=>A,T=>ABLOOD GROUP--LUTHERAN NULLbasal cell adhesion moleculeHaCaTkidney
chr194573783745737837ACrs346748N1.95034208446e-050.36262upstreamEXOC3L2
HELkidney
chr194591130945911342CAAAAAAAAACAAAAAAAAAATCAAAAAACCTTCCAAAAAAAAAACAAAAAAAAAAACAAAAAACCTTCD0.6648978590973-UTRERCC1
NM_001166049
NM_001983
WM-115heart muscle
chr194591130945911342CAAAAAAAAACAAAAAAAAAATCAAAAAACCTTCCAAAAAAAAACAAAAAAAAATCAAAAAACCTTCD0.6648978590973-UTRERCC1
NM_001166049
NM_001983
WM-115heart muscle
chr194621366546213689GAAAAAAAAAAAAAAAAAAATCTTGGAAAAAAAAAAAAAAAAATCTTGN0.0107999052852downstreamFBXO46
F-box protein 46HeLaspleen
chr194773621647736216TCrs2032809N0.4866327941420.668331upstreamBBC3
NB-4colon
chr194777787247777872GArs75900606N0.2383151203390.511981upstreamINAFM1
chr194818237148182371CTrs57319999N0.004817365668710.179113intronicGLTSCR1
glioma tumor suppressor candidate region gene 1SiHaovary
chr194818447448184474CTrs3745762N4.06130908459e-070.346246NNNNnonsynonymous SNVGLTSCR1
NM_01571162047683P=>Sglioma tumor suppressor candidate region gene 1SiHaovary
chr1948446654844672TCCCCTCATCCCTCAD0.968319296837intronicPLIN3
perilipin 3U-2197esophagus
chr1948599374859937TCrs8289N3.60239447161e-080.633786NNNNnonsynonymous SNVPLIN3
NM_001164194
NM_005817
NM_001164189
3,3,3166,166,16656,56,56I=>V,I=>V,I=>Vperilipin 3U-2197esophagus
chr194870620248706202CGrs1965756N1.05575448384e-090.823482intergenic
chr194873670648736706GArs4802449N4.91558530484e-050.398762intronicCARD8
NB-4lymph node
chr194873755148737551TCrs2288877N0.0002422651596130.269768intronicCARD8
NB-4lymph node
chr194873776448737764AGrs2288876N5.61353226658e-050.269369synonymous SNVCARD8
NM_001184902
NM_001184903
NM_001184900
NM_001184901
NM_014959
6,4,3,3,4246,246,246,96,9682,82,82,32,32L=>L,L=>L,L=>L,L=>L,L=>LNB-4lymph node
chr1948757654875765GTrs2602701N2.02295709073e-070.590455intergenic
chr194894976648949766CGrs929743N0.0006673398311250.663538intronicGRWD1
glutamate-rich WD repeat containing 1NB-4lymph node
chr1949096294909629CGrs8103849N0.4866327941420.3506395-UTRUHRF1
NM_001048201 ubiquitin-like, containing PHD and RING finger domains, 1
chr194910278249102782GArs10410524N2.77747780331e-080.442891downstreamSULT2B1
sulfotransferase family, cytosolic, 2B, member 1CAPAN-2esophagus
chr194910281449102814GArs10415861N0.4866327941420.303115downstreamSULT2B1
sulfotransferase family, cytosolic, 2B, member 1CAPAN-2esophagus
chr194910699549106995GArs3745728N1.58098264365e-050.182508NDPNnonsynonymous SNVFAM83E
NM_0177084932311P=>Lfamily with sequence similarity 83, member ECAPAN-2colon
chr1949108894910889GTrs2261988N0.00894431024790.319888exonicUHRF1
ubiquitin-like, containing PHD and RING finger domains, 1
chr194911635949116359TCrs447802N6.31302649046e-110.550919NNNNnonsynonymous SNVFAM83E
NM_0177081271,9191T=>Afamily with sequence similarity 83, member ECAPAN-2colon
chr194911990049119936CCAGCACAGCACAGCACAGCACAGCACAGCACAGCACCCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACN0.308455854654intronicRPL18
NB-4ovary
chr194912043449120434CTrs369880N0.003032379783690.225439intronicRPL18
NB-4ovary
chr194912224849122248TCrs3094287N0.4866327941420.554912intronicRPL18
NB-4ovary
chr194913176449131767AAGAAAGAGAN0.0350917689502intronicSPHK2
sphingosine kinase 2NB-4kidney
chr194913789749137908GCCCCCCTCGCGGCCCCCTCGCGN0.486632794142intronicDBP
NB-4salivary gland
chr194916474049164740TCrs281391N8.12700081119e-300.606829ncRNASEC1P
chr194944293349442933TCrs2270939N1.20972492823e-060.453075synonymous SNVDHDH
NM_0144754594198S=>Sdihydrodiol dehydrogenase (dimeric)U-266/84kidney
chr194944581749445817TCrs11666105N5.91904381508e-060.453474NNNNnonsynonymous SNVDHDH
NM_0144755740247V=>Adihydrodiol dehydrogenase (dimeric)U-266/84kidney
chr194954009349540093ACrs10853805N0.0172260683030.6491615-UTRCGB1
NM_033377 BEWOplacenta
chr194955695349556953CGrs33961691N8.47233309287e-070.517173downstreamCGB7
BEWOplacenta
chr194955867849558678TGrs35000456N0.003958543762560.2673725-UTRCGB7
NM_033142 BEWOplacenta
chr194955932949559329GArs3810179N0.0007331035449170.499002upstreamCGB7
BEWOplacenta
chr194993029549930295CGrs73053944N0.09804661571980.0682907nonsynonymous SNVGFY
NM_0011952561608203T=>SSCLC-21Htestis
chr194994473049944732CAGCGD0.9369834661485-UTRSLC17A7
NM_020309 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7HMC-1cerebral cortex
chr195000370850003708TCrs2914670N0.06124816834931downstreamMIR150
RPS11
chr195016290950162909CGrs7251N6.33284162177e-060.484625NNNDnonsynonymous SNVIRF3
NM_001571
NM_001197125
NM_001197123
NM_001197126
NM_001197124
NM_001197127
NM_001197122
NM_001197128
8,7,8,6,7,6,8,51280,842,1175,842,899,461,1296,461427,281,392,281,300,154,432,154S=>T,S=>T,S=>T,S=>T,S=>T,S=>T,E=>D,S=>Tinterferon regulatory factor 3U-266/70lymph node
chr195016772650167726CGrs2304207N0.4866327941420.115016nonsynonymous SNVIRF3
NM_00119712323412V=>Linterferon regulatory factor 3U-266/70lymph node
chr195016887150168871GArs2304206N0.00.3730035-UTRBCL2L12
NM_001040668
NM_001282516
NM_001282517
NM_001282519
NM_001282520
NM_001282521
NM_138639
BCL2-like 12 (proline rich)HEK-293lymph node
chr195016902050169020TCrs2304204N1.09586144866e-160.4027565-UTRBCL2L12
NM_001040668
NM_001282516
NM_001282517
NM_001282519
NM_001282520
NM_001282521
NM_138639
NM_001197122
NM_001197123
NM_001197124
NM_001197125
NM_001197126
NM_001197127
NM_001197128
NM_001571
BCL2-like 12 (proline rich)HEK-293lymph node
chr1950707955070795AGrs730292N0.01119650807230.0479233intronicKDM4B
lysine (K)-specific demethylase 4BU-266/70thyroid gland
chr195116499651165014TCACACACACACACACACTTCACACACACACACACTN3.69445078832e-053-UTRSHANK1
NM_016148 SH3/ankyrin domain gene 1REHcerebral cortex
chr195126329651263296CArs4802739N0.4866327941420.50599intergenic
chr195128896851288970GTCGCN0.0318690612912ncRNALOC105372440
chr195141236551412371TGGGGCTTGGGCTN0.204172328115intronicKLK4
A-431prostate
chr195144607751446077CGrs2659089N0.000992817338556downstreamKLK5
kallikrein related-peptidase 5A-431skin
chr195153931651539316GArs2691211N9.90522996958e-101intergenic
chr195163048251630482CArs2258983N1.73749685928e-050.67492NNNNnonsynonymous SNVSIGLEC9
NM_014441
NM_001198558
4,4944,944315,315A=>E,A=>EKarpas-707appendix
chr195171534551715345CTrs61730558N1.09802294901e-060.0738818intergenic
chr19518957518957CArs117112129N0.4866327941420.0559105NDPNnonsynonymous SNVTPGS1
NM_0335132407136P=>Qtubulin polyglutamylase complex subunit 1U-266/70adipose tissue
chr195280366952803676CTGTGTGACTGTGAD0.999022722244frameshift substitutionZNF480
NM_001297624
NM_144684
2,24,4 HL-60colon
chr195288714552887152TAAAAATCTAAAATCN2.58935451711e-05frameshift substitutionZNF880
NM_0011454344312 RH-30thyroid gland
chr195288724652887253TCAACAATTCAACAACAATN3.14556818921e-05nonframeshift substitutionZNF880
NM_0011454344413 RH-30thyroid gland
chr195288862052888620TGrs3170100N8.28072224976e-050.4167333-UTRZNF880
NM_001145434 RH-30thyroid gland
chr195301548753015493AGGAGAAAGAGAAN0.1444456726313-UTRZNF578
NM_001099694 U-266/84testis
chr195301574253015742CGrs329939N0.003248010063540.1655353-UTRZNF578
NM_001099694 U-266/84testis
chr195301937653019377TGCAN0.002061536535623-UTRZNF578
NM_001099694 U-266/84testis
chr195305695353056953GArs329965N2.84959751298e-050.217252NPPNnonsynonymous SNVZNF808
NM_0010398865784262D=>NRT-4thyroid gland
chr195307356453073564GTrs75660813N0.4866327941420.1343855-UTRZNF701
NM_018260 RT-4lymph node
chr195308713253087140TAATAAATGTAATGD0.5660962462433-UTRZNF701
NM_018260
NM_001172655
RT-4lymph node
chr195308714953087149TArs111274688N0.007933466695250.1287943-UTRZNF701
NM_018260
NM_001172655
RT-4lymph node
chr195313842253138422AGrs10775556N0.001758581027390.5543135-UTRZNF83
NM_001277951 RT-4ovary
chr195319377053193770AGrs3745108N0.08131179958580.5988425-UTRZNF83
NM_001277945
NM_001277946
NM_001277947
NM_001277948
NM_001277949
RT-4ovary
chr195320955353209554GGATN2.47343155024e-06nonframeshift substitutionZNF611
NM_030972
NM_001161499
NM_001161500
NM_001161501
7,6,5,5754,754,754,547 RT-4gallbladder
chr195330187653301884ATCCTCCTAATCCTAD0.9140321612363-UTRZNF28
NM_006969 RT-4urinary bladder
chr195334353453343535GTACN0.3201249539853-UTRZNF468
NM_001008801
NM_001277120
RT-4thyroid gland
chr195334411853344118CGrs10419826N0.2307211309670.579872NNNnonsynonymous SNVZNF468
NM_00100880141429477G=>RRT-4thyroid gland
chr195335256853352568AGrs7253133N0.0002229456586060.264177intronicZNF468
RT-4thyroid gland
chr195335730653357308CTGCATGD0.999870181084intronicZNF468
RT-4thyroid gland
chr195341842053418420ACrs4803020N0.0006826300523240.257788intronicZNF888
chr195342138753421387CTrs76201701N0.02237531915310.0457268upstreamZNF888
chr195345454353454543GArs11084210N4.12649114878e-060.146166NNNNnonsynonymous SNVZNF816
NM_001202456
NM_001202457
NM_001031665
4,4,5485,485,485162,162,162S=>L,S=>L,S=>LRT-4prostate
chr195357741953577419GCrs8105668N1.21711907219e-090.759984NNNNnonsynonymous SNVZNF160
NM_001102603
NM_198893
NM_033288
6,6,5245,245,24582,82,82P=>R,P=>R,P=>RRT-4spleen
chr195361180253611802TGrs61733666N8.32404475659e-050.0197684DPNNnonsynonymous SNVZNF415
NM_018355
NM_001164309
NM_001136038
4,4,41496,1496,1496499,499,499N=>T,N=>T,N=>TRT-4testis
chr195366763753667637CTrs4803054N2.037736067e-060.5177723-UTRZNF665
NM_024733 MOLT-4ovary
chr195376082553760825CTrs2914370N3.36878969165e-080.557508upstreamVN1R2
A-431testis
chr195391606153916061TCrs10404435N1.72846648638e-060.771765downstreamZNF765
RT-4ovary
chr195397093053970930TCrs1968829N0.2120046764610.379792upstreamZNF813
RT-4prostate
chr195405893154058931CGrs6509790N1.38449024689e-060.730032intronicZNF331
HEK-293adrenal gland
chr195417727354177273TCrs7258128N1.18445395856e-050.457867upstreamMIR498
chr195418224954182249TCrs7256893N3.38076897606e-050.285343upstreamMIR515-1
MIR515-2
MIR519E
chr195425718554257185CGrs611356N2.01017385848e-070.754593upstreamMIR527
chr195425719054257191ACGAN0.000754279200919upstreamMIR527
chr195426166954261669GTrs683060N6.39630286514e-080.836861downstreamMIR1283-2
chr195426577954265791GTTTTTTTTTCCAGTTTTTTTTCCAN0.0115886591375downstreamMIR519A2
chr195429173854291763GAAAAAAAAAAAAAAAAACAGCAGCTGAAAAAAAAAAAAAAAAAAACAGCAGCTN0.00185179500841upstream,downstreamMIR371B
MIR373;MIR371A
MIR372
chr195429173854291763GAAAAAAAAAAAAAAAAACAGCAGCTGAAAAAAAAAAAAAAACAGCAGCTN0.00185179500841upstream,downstreamMIR371B
MIR373;MIR371A
MIR372
chr195446558454465586GCGACAN0.0122885853052upstreamCACNG8
HMC-1cerebral cortex
chr195472438754724389AGCGGGD0.835022509098intronicLILRB3
leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3TIMEappendix
chr195472440754724407CTrs1132608N0.009941562078890.354433intronicLILRB3
leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3TIMEappendix
chr195478492854784928TCrs13347079N0.0001954869221660.1940895-UTRLILRB2
NM_001080978
NM_001278404
NM_005874
U-937appendix
chr195484357554843575CGrs1205320N0.4866327941420.520567downstreamLILRA4
HMC-1lymph node
chr195484358954843589TCrs1205321N7.94429870439e-050.561302downstreamLILRA4
HMC-1lymph node
chr195487019154870191TArs111949142N0.03071789816020.0986422intronicLAIR1
leukocyte-associated Ig-like receptor 1Karpas-707bone marrow
chr195514195455141954GArs3760860N5.86013371162e-090.4610625-UTRLILRB1
NM_001081638
NM_001081639
HDLM-2appendix
chr195514315655143157TGCAN0.000467305304483nonframeshift substitutionLILRB1
NM_001278399
NM_001278398
NM_006669
NM_001081639
NM_001081638
NM_001081637
4,4,5,4,4,4276,276,276,276,276,276 HDLM-2appendix
chr195517500955175009GTrs11540761N0.0002952536742670.195487NDDNnonsynonymous SNVLILRB4
NM_001278426
NM_001278427
NM_001278430
NM_001278428
2,2,2,254,54,54,5418,18,18,18R=>S,R=>S,R=>S,R=>Sleukocyte immunoglobulin-like receptor, subfamily B, member 4Karpas-707lymph node
chr195520789855207900TTTATGN0.000589940173086intergenic
chr195520810655208106AGrs4806808N9.86967023664e-080.759185intergenic
chr195520835355208353AGrs1972789N4.09156353243e-090.855831intergenic
chr195520836655208366TArs4806809N3.6275682902e-080.758986intergenic
chr195597295055972950TGrs2303088N0.2995645701890.6952885-UTRISOC2
NM_001136201
NM_001136202
NM_024710
HEK-293kidney
chr195628293856282938GArs1820105N2.37500644289e-050.49401upstreamRFPL4AL1
U-2-OSspleen
chr195657361056573610TCrs3097884N5.48676259982e-090.768371downstreamNLRP5
NLR family, pyrin domain containing 5U-2-OStestis
chr195698919156989191GArs10425729N0.2547596693040.48762upstreamZNF667
ZNF667-AS1
chr195705006557050065CGrs73629994N0.4166363775730.779153upstreamZFP28
zinc finger protein 28RH-30ovary
chr19571397571397GArs28989772N0.06200781464580.06369815-UTRBSG
NM_198590
NM_198591
BLOOD GROUP--OKbasiginU-87-MGheart muscle
chr195773463257734632CTrs2058082N6.4736659624e-060.619808downstreamZNF264
HEK-293testis
chr1957785175778517ATrs2305925N4.68255620945e-060.294129DNNNnonsynonymous SNVCATSPERD
NM_152784222227743T=>SHELtestis
chr1957839055783905GArs3745640N3.13932133622e-070.307508DDPNnonsynonymous SNVPRR22
NM_0011343163353118P=>LHMC-1testis
chr1957851135785113CTrs3826798N1.46140689594e-060.311502upstream,downstreamPRR22;DUS3L
chr1957911675791167TCrs2290776N0.4866327941420.4540735-UTRDUS3L
NM_001161619
NM_020175
dihydrouridine synthase 3-like (S. cerevisiae)U-266/70bone marrow
chr19588934588934TCrs3814894N1.44368686961e-060.521166upstreamHCN2
hyperpolarization-activated, cyclic nucleotide-gated K+ 2U-87-MGcerebral cortex
chr19589315589315ACrs72972190N2.13930011483e-080.0690895upstreamHCN2
hyperpolarization-activated, cyclic nucleotide-gated K+ 2U-87-MGcerebral cortex
chr1959040695904069GArs6510862N0.006627769209440.722244upstreamNDUFA11
VMAC
chr1961564836156483TCrs4807840N4.78194692732e-070.712061NNNnonsynonymous SNVACSBG2
NM_001289178
NM_030924
NM_001289179
NM_001289177
5,5,5,5428,428,428,428143,143,143,143V=>A,V=>A,V=>A,V=>Aacyl-CoA synthetase bubblegum family member 2HELtestis
chr19616509616509GArs55810748N2.11372480408e-060.2026763-UTRHCN2
NM_001194 hyperpolarization-activated, cyclic nucleotide-gated K+ 2U-87-MGcerebral cortex
chr19617195617195CTrs11670098N0.1305287927390.228634downstreamHCN2
POLRMT
chr19639161639161CTrs111509883N0.4866327941420.0451278upstreamFGF22
fibroblast growth factor 22AN3-CAskin
chr19648256648256GAD0.99004560709stopgainRNF126
NM_1944609808270R=>XU-266/70testis
chr1967025986702598GArs406514N3.15716242767e-050.814896intronicC3
complement component 3Hep-G2liver
chr1967374816737481TCrs340138N0.1870822012420.886581NNNNnonsynonymous SNVGPR108
NM_001080452110736Q=>RG protein-coupled receptor 108Karpas-707thyroid gland
chr1968216256821625CTrs28617395N7.56910230848e-050.0928514intronicVAV1
vav 1 oncogeneMOLT-4lymph node
chr1969039206903920AGrs443658N4.15774229623e-050.432708NDDDnonsynonymous SNVADGRE1
NM_001256254
NM_001256253
NM_001974
NM_001256252
4,7,7,6338,761,761,605113,254,254,202N=>S,N=>S,N=>S,N=>S
chr1971169637116963TCrs1051690N6.05537575638e-090.8773963-UTRINSR
NM_000208
NM_001079817
insulin receptorKarpas-707ovary
chr1976607637660787AGCGGCGGCGGCGGCGGCGGCGGCAAGCGGCGGCGGCGGCGGCGGCAD0.888342738152upstreamCAMSAP3
calmodulin regulated spectrin-associated protein family, member 3CACO-2skin
chr1977337937733793CGrs1862513N0.0248578917235upstreamRETN
NB-4bone marrow
chr1977438797743879CTrs4804766N0.001175841665830.279153intronicMCEMP1
chr1977472937747293TGrs6952N1.32970310318e-080.358027NNNNnonsynonymous SNVTRAPPC5
NM_001042462
NM_001042461
NM_174894
2,2,2154,154,15452,52,52S=>A,S=>A,S=>APC-3testis
chr1977552857755285AGrs28364072D0.9430885910990.397764intronicFCER2
HDLM-2spleen
chr1977614947761498CTTAGCAGD0.977330565453intronicFCER2
HDLM-2spleen
chr1977632487763248GArs2228137N2.7353306109e-070.203674DDPNnonsynonymous SNVFCER2
NM_001207019
NM_002002
NM_001220500
3,4,4181,184,18461,62,62R=>W,R=>W,R=>WHDLM-2spleen
chr1981296088129608TCrs4804255N3.51722860614e-060.63738downstreamFBN3
REHlung
chr19867872867872GArs34828577N7.9095940464e-070.40016downstreamMED16
mediator complex subunit 16U-266/70ovary
chr1990201539020154CACGN5.45662696823e-05nonframeshift substitutionMUC16
NM_0246902137341 mucin 16HeLauterus
chr1990201539020154CATGN5.45662696823e-05nonframeshift substitutionMUC16
NM_0246902137341 mucin 16HeLauterus
chr19920642920642TArs350132N5.14143778219e-070.783946NNNNnonsynonymous SNVKISS1R
NM_03255151091364L=>HKISS1 receptorRPMI-8226cerebral cortex
chr1992360159236015TCrs34125139N1.14528756967e-050.423722downstreamOR7G3
A-431adipose tissue
chr2106209385106209385ACrs1126240N1.03295161313e-090.595248downstreamLOC285000
chr2106810994106810994GArs11887738N0.4866327941420.974241upstreamUXS1
UDP-glucuronate decarboxylase 1BEWOkidney
chr2106920429106920429GTrs7580166N1.55911845923e-060.805312intergenic
chr21092452410924524TCrs1198873N3.36794014899e-090.5573083-UTRATP6V1C2
NM_001039362
NM_144583
ATPase, H+ transporting, lysosomal V1 subunit C2BEWOskin
chr2109745176109745176GArs11681142N7.99008739705e-060.953474ncRNASH3RF3-AS1
chr2113823626113823626TCrs12475161N7.53958602218e-060.715256intergenic
chr2118949128118949128TArs3849333N1.59474922157e-080.901158intergenic
chr21190563611905656GTTTTTTTTTGTCTGTTTTCCGTTTTTTTTGTCTGTTTTCCD0.912479281425intronicLPIN1
lipin 1U-266/70testis
chr2119928277119928277AGrs4322838N1.2053047449e-090.998003intergenic
chr2120418594120418594CArs1879711N4.33491209151e-070.739417intergenic
chr2120436681120436681AGrs2272054N0.1033531725410.871805upstreamTMEM177
transmembrane protein 177NTERA-2duodenum
chr2122042750122042750ATrs13415738N0.0330973453820.4776365-UTRTFCP2L1
NM_014553 transcription factor CP2-like 1RT-4salivary gland
chr2123831418123831418TCrs11694990N8.26117830002e-050.310104intergenic
chr2124439681124439681AGrs2670606N2.94835786008e-070.849441intergenic
chr2130254891130254891AGrs2084937N1.80134769323e-080.987819intergenic
chr2132151997132151997TCrs1976952N9.71754343482e-050.733027intergenic
chr2132533457132533459AGAAGGGN0.00214449572377intergenic
chr2133015576133015576TCrs10175641N0.4866327941420.170727upstreamANKRD30BL
MIR663B
chr2133015810133015811AGGGN0.305469334126upstreamANKRD30BL
REHtestis
chr2133015885133015886AGAAN0.00428532762453upstreamANKRD30BL
REHtestis
chr2133015885133015886AGGAN0.00428532762453upstreamANKRD30BL
REHtestis
chr2133016581133016585CAGTGGAGTAD1.0intergenic
chr2133016581133016585CAGTGGAGTGD1.0intergenic
chr2136956640136956657GAAAAAAAAAAAAGATGCGAAAAAAAAAAAAAGATGCD0.619050204754intergenic
chr2137401769137401769TCrs1446103N1.17940726341e-060.572085intergenic
chr2139259222139259222AGrs62161711N0.4866327941420.74381upstreamSPOPL
speckle-type POZ protein-likeU-266/70lymph node
chr2139658953139658953ACrs12473352N5.2033897191e-090.783946intergenic
chr2144193151144193169CTTTTTTTTTTTTTTGCAGCTTTTTTTTTTTTTTTTGCAGN0.0693475902081intronicARHGAP15
Rho GTPase activating protein 15THP-1lymph node
chr2148252587148252587TCrs1898708N7.77390685158e-090.966254intergenic
chr2148252636148252636CArs2382042N7.24804083418e-090.966254intergenic
chr2149582879149582879CTrs58237624N0.0001325837365580.144569intergenic
chr2149853960149853960AGrs6738277N3.14630277387e-090.631589intronicKIF5C
kinesin family member 5CSCLC-21Hcerebral cortex
chr2151900390151900435TAAAAACAAAAACAAAAACAAAAACAAAAACAAAAACAAACCCTTTTAAAAACAAAAACAAAAACAAAAACAAACCCTTTN0.47182276845intergenic
chr2153191655153191655TGrs10203197N0.05220109969380.941494upstreamFMNL2
formin-like 2BEWOcerebral cortex
chr2153191866153191866AGrs10200831N0.01838269270960.9884195-UTRFMNL2
NM_052905 formin-like 2BEWOcerebral cortex
chr2158485075158485075GTrs114245489N0.0252227745950.0207668intronicACVR1C
activin A receptor, type ICHDLM-2adipose tissue
chr2159651734159651734AGrs925781N5.43594474989e-110.681909upstreamDAPL1
death associated protein-like 1U-87-MGesophagus
chr2159663599159663599TCrs9869N2.10973567505e-080.590455DPPNnonsynonymous SNVDAPL1
NM_001017920317960L=>Pdeath associated protein-like 1U-87-MGesophagus
chr2159672252159672252GArs61740878N1.34048314067e-050.102436synonymous SNVDAPL1
NM_0010179204243,8181A=>Adeath associated protein-like 1U-87-MGesophagus
chr2159672442159672442GArs10016N4.81382667061e-090.4454873-UTRDAPL1
NM_001017920 death associated protein-like 1U-87-MGesophagus
chr2160289911160289911AGrs10187471N0.00749455997720.144768intronicBAZ2B
bromodomain adjacent to zinc finger domain, 2BSCLC-21Hovary
chr2160743040160743040TArs2271381N1.44163686855e-060.235423NNNNnonsynonymous SNVLY75
LY75-CD302
NM_002349
NM_001198759
NM_001198760
5,5,5804,804,804268,268,268E=>D,E=>D,E=>D
chr2162280748162280748GArs890076N1.65592410016e-170.7585863-UTRTBR1
NM_006593 T-box brain gene 1SCLC-21Hcerebral cortex
chr2162359983162359983TCrs12620974N8.53280900798e-120.952476ncRNAAHCTF1P1
chr2162903515162903515ATrs200443496D0.9281004667280.000399361NNNDnonsynonymous SNVDPP4
NM_001935419565D=>Edipeptidylpeptidase 4PC-3small intestine
chr2164466039164466054ATTTTTTTTTTCTAAAATTTTTTTTTCTAAAD0.9923519492153-UTRFIGN
NM_001321825
NM_018086
fidgetinU-138-MGovary
chr2164592924164592924TCrs13417911N0.005812319926920.945288upstreamFIGN
fidgetinU-138-MGovary
chr2165477903165477903GCrs62173895N0.003392871469260.4424925-UTRGRB14
NM_004490 growth factor receptor bound protein 14TIMEliver
chr2166535615166535615CGrs61747278N2.97153292195e-070.0131789NNNNnonsynonymous SNVCSRNP3
NM_001172173
NM_024969
7,51110,1110370,370D=>E,D=>Ecysteine-serine-rich nuclear protein 3SCLC-21Hcerebral cortex
chr2166895913166895937CTTTTTTTTTTTTTTTTTACCAATCCTTTTTTTTTTTTTTTTACCAATCN0.437596797943frameshift substitutionSCN1A
NM_001165964
NM_001202435
NM_006920
NM_001165963
14,16,14,142501,2585,2552,2585 sodium channel, voltage-gated, type I, alphaHep-G2cerebral cortex
chr2170003432170003432TGrs4667591N2.41021803049e-060.555911DDDDnonsynonymous SNVLRP2
NM_00452569126284210I=>Llow density lipoprotein receptor-related protein 2CACO-2kidney
chr2170403030170403030TCrs2253680N0.0001750662049740.542931NNNNexonicFASTKD1
FAST kinase domains 1NB-4heart muscle
chr2172398311172398311TCrs7586144N9.09489844547e-120.804313intronicCYBRD1
cytochrome b reductase 1RH-30thyroid gland
chr2172411273172411273GArs10455N3.60809515598e-080.683107NNNNnonsynonymous SNVCYBRD1
NM_024843
NM_001256909
4,4797,623266,208S=>N,S=>Ncytochrome b reductase 1RH-30thyroid gland
chr2172946315172946315TGrs788160N1.86774640892e-120.8548323-UTRMETAP1D
NM_001322278
NM_001322279
NM_199227
methionyl aminopeptidase type 1D (mitochondrial)K-562ovary
chr2173850463173850463ACrs35253091N0.1901347637180.115615intronicRAPGEF4
Rap guanine nucleotide exchange factor (GEF) 4U-266/84cerebral cortex
chr2177502520177502520GCrs2969358N0.001312953303570.927516ncRNALINC01117
chr2177714253177714253GArs12616782N9.20660099268e-080.485623intergenic
chr2178417945178417945GTrs12988366N0.2012252956630.890575upstreamTTC30B
tetratricopeptide repeat domain 30BSCLC-21Htestis
chr2178491217178491217GArs6723031N1.31082649281e-200.8893773-UTRPDE11A
NM_001077196
NM_016953
NM_001077197
phosphodiesterase 11AHep-G2prostate
chr2183580780183580780GAN0.1644929200415-UTRDNAJC10
NM_001271581
NM_018981
DnaJ (Hsp40) homolog, subfamily C, member 10RPMI-8226uterus
chr2190445848190445848GArs12693542N0.0007086826371960.683107upstreamSLC40A1
solute carrier family 40 (iron-regulated transporter), member 1HELovary
chr2190445936190445936CTrs13015236N1.85311673704e-050.511182upstreamSLC40A1
solute carrier family 40 (iron-regulated transporter), member 1HELovary
chr22010122220101227GAAATCGAATCN0.486632794142intronicTTC32
tetratricopeptide repeat domain 32Karpas-707bone marrow
chr2201347707201347707GCrs6751614N1.87814226393e-080.707468downstreamSPATS2L
spermatogenesis associated, serine-rich 2-likeRH-30gallbladder
chr2202122995202122995AGrs3769823N0.04322430118920.646366NNNNnonsynonymous SNVCASP8
NM_00108012514114K=>RCASPASE 8 DEFICIENCYcaspase 8U-266/70bone marrow
chr2202151439202151439GCrs3185378N0.02611668221650.5543133-UTRCASP8
NM_001080124
NM_001228
NM_033355
NM_001080125
NM_033356
CASPASE 8 DEFICIENCYcaspase 8U-266/70bone marrow
chr2202215492202215492CGrs13014235N6.09429116594e-050.709065NNNNnonsynonymous SNVALS2CR12
NM_139163
NM_001289993
NM_001127391
3,3,3127,127,12743,43,43V=>L,V=>L,V=>Lamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (human)SK-MEL-30testis
chr2203690387203690387GArs1344959N5.73921141722e-080.86881intronicICA1L
islet cell autoantigen 1-likeBEWOcerebral cortex
chr2204216255204216278GTTTTTTTTTTTTTTTCCTTTAGAGTTTTTTTTTTTTTTTTCCTTTAGAN0.142577528954intronicABI2
abl-interactor 2AN3-CAcerebral cortex
chr22083729220837292GArs56238706N1.13281612357e-050.209465intronicHS1BP3
HCLS1 binding protein 3SK-MEL-30adrenal gland
chr2208477852208477852GArs2551949N9.27130461292e-090.904153NNNNnonsynonymous SNVMETTL21A
NM_001127395
NM_145280
4,4575,575192,192T=>I,T=>Imethyltransferase like 21ANB-4lymph node
chr2208546034208546034TCrs10191721N4.14576099145e-120.462061intergenic
chr2208551727208551727GArs10181368N1.43239378692e-100.984425intergenic
chr2208994697208994697CTrs2242071N2.58925686447e-100.661941ncRNALOC100507443
chr2209029192209029192ACrs2123291N1.25666616668e-070.653355upstream,downstreamCRYGA;C2orf80
chr2209225308209225308GCrs6435454N6.0317013606e-080.913738intronicPTH2R
parathyroid hormone 2 receptorHELkidney
chr2211319824211319824TCrs2287432N0.000376738200430.71226ncRNALANCL1-AS1
chr2211320041211320063GAAAAAAAAAAAAGGAAACAATGGAAAAAAAAAAAAAAGGAAACAATGD0.975179612637ncRNALANCL1-AS1
chr2211341156211341156CGrs2287418N0.0004200190887790.48103intronicLANCL1
LanC (bacterial lantibiotic synthetase component C)-like 1SK-BR-3cerebral cortex
chr22134660421346604GTrs312960N2.11555113705e-110.972244upstreamTDRD15
chr2216256615216256615TCrs6709607N0.005525883287190.689297intronicFN1
fibronectin 1Hep-G2liver
chr2216878008216878008CGrs1864253N0.01689583808180.677117NNNNnonsynonymous SNVMREG
NM_01800014315G=>RmelanoregulinMCF-7esophagus
chr2219139573219139573GArs6734242N2.01123562249e-080.9588663-UTRTMBIM1
NM_001321427
NM_001321428
NM_001321429
NM_001321430
NM_001321432
NM_001321433
NM_001321435
NM_001321436
NM_001321438
NM_022152
RT-4esophagus
chr2219350358219350391CAAAAAAAAAAAAAAAAAAAAAAAATTACCTAGGCAAAAAAAAAAAAAAAAAAAAATTACCTAGGD0.815276145935frameshift substitutionUSP37
NM_020935161666 ubiquitin specific peptidase 37HELtestis
chr2220455241220455241AGrs2385535N1.08436417179e-070.843051intergenic
chr2220466344220466363GTTTTTTTTTTTTTTTCAGCGTTTTTTTTTTTTTTTTCAGCD0.999998092651frameshift substitutionSTK11IP
NM_0529024268 serine/threonine kinase 11 interacting proteinHMC-1testis
chr2223535927223535927TGrs4312477N2.65417384071e-070.783546upstreamMOGAT1
HEK-293gallbladder
chr2232387698232387698GArs72991337N0.4866327941420.348043downstreamNMUR1
neuromedin U receptor 1U-266/70adipose tissue
chr2232387706232387706AGrs72991338N0.4866327941420.354433downstreamNMUR1
neuromedin U receptor 1U-266/70adipose tissue
chr2233924009233924009AGrs7558755N1.09781939095e-090.741414upstreamINPP5D
inositol polyphosphate-5-phosphatase DHMC-1lymph node
chr2234683892234683892CTrs4663972N1.51821166749e-090.770168upstreamMROH2A
RT-4testis
chr2240725072240725072TCrs66660625N1.55673642439e-050.290136intergenic
chr2241525316241525316CTrs2953172N0.003293049987410.793331ncRNACAPN10-AS1
chr2242295521242295521ACrs2286279N0.4866327941420.863618upstreamFARP2
FERM, RhoGEF and pleckstrin domain protein 2SK-MEL-30testis
chr22504475425044755ACGTN0.07810271531343-UTRCENPO
NM_001199803
NM_001322101
NM_024322
centromere protein ORH-30testis
chr22594598225945982CArs7599007N1.63400886777e-060.591454intergenic
chr22695250126952501TCrs1663003N5.02631769539e-100.9628593-UTRKCNK3
NM_002246 potassium channel, subfamily K, member 3SCLC-21Hadrenal gland
chr23378806033788070CTTTTTTCTCACTTTTCTCAN0.0286588687453-UTRRASGRP3
NM_170672
NM_001139488
NM_015376
RAS, guanyl releasing protein 3U-266/70lymph node
chr234836123483612CTrs78864276N0.007264541927730.0423323downstreamTRAPPC12
trafficking protein particle complex 12MCF-7testis
chr23729289037292890TGrs11903252N0.01786452718080.281949intronicHEATR5B
HEAT repeat containing 5BKarpas-707lymph node
chr23745603237456032CTrs2098386N3.83594760933e-060.939896NNNNnonsynonymous SNVCEBPZ
NM_0057602304102V=>ICCAAT/enhancer binding protein zetaNTERA-2testis
chr23754337137543371AGrs6544066N0.0009391123312530.441494intronicPRKD3
protein kinase D3U-266/84lymph node
chr23796551637965516GTrs72880762N0.000147183280205intergenic
chr23796553237965532GTrs77721061N0.00010818130977intergenic
chr23796555537965555GCrs78459989N0.000143574667163intergenic
chr23796559937965599GArs73929712N8.19076885819e-05intergenic
chr23796563637965636GArs72799788N0.000131433349452intergenic
chr23796564737965647CTrs77903747N0.000125791309983intergenic
chr23860435138604351AGrs3731847N0.4866327941420.49361NNNNnonsynonymous SNVATL2
NM_022374
NM_001135673
1,152,5218,18W=>R,W=>Ratlastin GTPase 2HaCaTthyroid gland
chr23940297839402980ACAAGCAN0.0226913746446intergenic
chr24379372543793725GArs1158411N0.4866327941420.353235DNNNintronicTHADA
thyroid adenoma associatedMCF-7lymph node
chr24523680345236803TGrs2959228N0.000337694713380.701877upstreamSIX2
sine oculis-related homeobox 2SCLC-21Hsalivary gland
chr24684421946844221CGCCGGCN0.4866327941425-UTRPIGF
NM_002643
NM_173074
phosphatidylinositol glycan anchor biosynthesis, class FEFO-21adrenal gland
chr24714295047142977GCCCCCCCCCCCCCCCCGACCTGCCCTGGCCCCCCCGACCTGCCCTGN0.4866327941425-UTRMCFD2
NM_001171506
NM_001171509
NM_139279
multiple coagulation factor deficiency 2U-87-MGadrenal gland
chr25566279055662790AGrs10865286N1.18251955428e-050.417732intergenic
chr26207391862073918CTrs58256183N3.40997539752e-050.500599intronicFAM161A
family with sequence similarity 161, member ANTERA-2testis
chr26268930662689306TCrs6737708N4.77906936247e-100.995407intergenic
chr26278869262788692CTrs4672533N0.003426023758950.415335intergenic
chr27052961470529614TCrs2952468N2.05561789812e-090.442093upstreamFAM136A
CACO-2duodenum
chr27105674071056740GCrs1548892N1.85551089089e-050.70647downstreamCD207
CD207 antigenAN3-CAskin
chr27111500071115000TGrs7567290N0.005543254781510.71226upstreamLINC01143
chr27235619572356195AGrs887844N2.04419217664e-100.544728downstreamCYP26B1
cytochrome P450, family 26, subfamily b, polypeptide 1U-2-OSskin
chr27435047574350475CGrs3108161N1.25770557133e-050.302716intergenic
chr27593903175939031CGrs143143402N0.003680015681310.174321upstreamGCFC2
RPMI-8226thyroid gland
chr28510825285108254GCGGCCGD0.9982293248185-UTRTRABD2A
NM_001080824
NM_001277053
NM_001307978
BEWOcolon
chr288874268887426AGrs12622593N0.2251649647950.145168intronicKIDINS220
kinase D-interacting substrate 220SH-SY5Ycerebral cortex
chr29163541391635413ACrs2647830N8.95688037628e-130.840056intergenic
chr29163542291635422AGrs2647831N9.80768504633e-07intergenic
chr29163638291636382GArs1839724N0.03690572083intergenic
chr29177714591777147CGCCGGN5.61913475394e-05intergenic
chr29177714591777147CGCTGGN5.61913475394e-05intergenic
chr29698774296987742GArs62153902N0.0305592138320.300719intergenic
chr20137933137933CGrs1434790N3.00406743925e-090.926917upstreamDEFB127
BEWOkidney
chr2016455711645576TGGGATTGGGGATN0.0071761822328intergenic
chr201665232216652322CArs6111242N9.91082970359e-070.415535intergenic
chr201672965416729656AAGAAGATGAGN0.000234850362176intronicOTOR
otoraplinSK-BR-3gallbladder
chr201673195116731951GArs34747330N1.31552933453e-050.02016773-UTROTOR
NM_020157 otoraplinSK-BR-3gallbladder
chr201759121017591217TGGGGTGATAGGGGTGAN4.65375087515e-05intergenic
chr201759398417593984GArs1885082N3.11235148764e-100.64377downstreamRRBP1
ribosome binding protein 1SK-BR-3pancreas
chr201759403017594030GArs6136149N1.24795988654e-070.630591downstreamRRBP1
ribosome binding protein 1SK-BR-3pancreas
chr201770566417705664GArs2296905N1.50322302943e-050.244808intronicBANF2
CACO-2testis
chr201844602418446024CArs6111974N1.25280848806e-050.638578intronicDZANK1
double zinc ribbon and ankyrin repeat domains 1U-266/84testis
chr201970194319701943ACrs2277866N2.43958797608e-100.8827883-UTRSLC24A3
NM_020689 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3HMC-1uterus
chr202140601821406018GTrs804371N2.15539821511e-050.0734824intergenic
chr202390288423902884AGrs1622461N1.49205146016e-080.947284intergenic
chr202396146923961469AGrs6036595N4.7154702365e-100.973243intergenic
chr202527846425278470AGTGGGGAGTGGGGTGGGGD0.9945078492163-UTRPYGB
NM_002862 brain glycogen phosphorylasePC-3heart muscle
chr202545704925457056GCTCCCACGCN0.02799327299exonicNINL
ninein-likeHep-G2ovary
chr202574367325743673AGrs2258302N0.00052097189473downstreamFAM182B
SCLC-21Htestis
chr2026736442673657GGGCGCTGGCGCTGGGGCGCTGN0.4866327941425-UTREBF4
NM_001110514 SH-SY5Yprostate
chr202959695829596958ATrs62198952N7.83520226832e-06intergenic
chr202959698529596985GCrs62198953N7.80075788498e-06intergenic
chr202965256629652569CACACATGN1.86216057045e-05intergenic
chr202965256629652569CACATACGN1.86216057045e-05intergenic
chr202965313929653142TATCCATAN0.0566310994327intergenic
chr202965336829653368ACrs62206799N0.0189222600311intergenic
chr202965344729653447GTrs6057425N6.01125236699e-07intergenic
chr2030631613063161TCrs1887854N2.18590639633e-060.923323downstreamAVP
DIABETES INSIPIDUS, NEUROHYPOPHYSEALarginine vasopressinHEK-293kidney
chr203140766131407661ATrs404543N0.4866327941420.810304upstreamMAPRE1
microtubule-associated protein, RP/EB family, member 1HELbone marrow
chr203144664531446645AGrs853853N9.25131189433e-080.809704intergenic
chr203433025934330259TCrs2425124N0.4866327941421upstreamRBM39
RNA binding motif protein 39HELbone marrow
chr2034508113450811GArs1552323N3.5912853491e-060.803115upstreamATRN
attractinHaCaTduodenum
chr203624734536247345AGrs2144505N1.41750746252e-070.802716downstreamLINC00489
chr203624740036247400ACrs2144506N2.38598499891e-060.564497downstreamLINC00489
chr203722958337229583CTrs6128504N2.46350995159e-100.908746upstreamARHGAP40
Rho GTPase activating protein 40SK-BR-3skin
chr203754737437547374GArs4812336N5.51370249013e-060.3324683-UTRPPP1R16B
NM_001172735
NM_015568
protein phosphatase 1, regulatory (inhibitor) subunit 16BU-266/70lymph node
chr203755511637555116GCrs3752290N2.46191248152e-050.401358NNNNnonsynonymous SNVFAM83D
NM_03091913111V=>Lfamily with sequence similarity 83, member DSiHaesophagus
chr2037584263758426CGrs910654N0.2596441805360.2961263-UTRSPEF1
NM_015417 sperm flagellar 1A-549testis
chr2040501644050164CTrs1538070N2.66173916241e-100.934904intergenic
chr204181898941818989GArs6065588N8.67415201355e-060.758187upstreamPTPRT
protein tyrosine phosphatase, receptor type, TSCLC-21Hcerebral cortex
chr204552330745523308CGGCN0.03905799239875-UTREYA2
NM_005244
NM_172110
eyes absent 2 homolog (Drosophila)U-266/84esophagus
chr205574326655743266AGrs6070005N4.83209555268e-130.889776downstreamBMP7
bone morphogenetic protein 7MCF-7thyroid gland
chr205694015356940153ACrs6026220N1.15117359201e-060.5908553-UTRRAB22A
NM_020673 RAB22A, member RAS oncogene familySK-BR-3cerebral cortex
chr205709041957090419GCrs910863N0.001162703381850.963858upstreamAPCDD1L
APCDD1L-AS1
chr205747519157475191AGrs13831N0.002278496511280.7973243-UTRGNAS
NM_001309883
NM_001309842
PSEUDOPSEUDOHYPOPARATHYROIDISMGNAS (guanine nucleotide binding protein, alpha stimulating) complex locusMCF-7thyroid gland
chr2059107665910766ACrs410462N1.46123241507e-070.564497intergenic
chr20592038592038CTrs282165N3.7827931898e-090.852436intergenic
chr206029286360292863CTrs8121433N0.0001124997215810.29992intronicCDH4
cadherin 4U-251-MGspleen
chr206127371761273717GCrs6122141N0.01551877148450.515575upstreamSLCO4A1
solute carrier organic anion transporter family, member 4a1PC-3esophagus
chr206140699561406995AGrs856951N9.25893814951e-080.986022ncRNALINC00659
chr206140707661407076TCrs856952N0.002895508427170.358227ncRNALINC00659
chr206146033861460338CTrs6062700N1.20357196431e-100.629393intronicCOL9A3
collagen, type IX, alpha 3BEWOthyroid gland
chr206181293261812932TCrs2064612N6.53440039855e-080.679712intergenic
chr2061937166193716TGrs2257221N8.7800494414e-140.98742intergenic
chr206196509661965099CAGACAN0.102632343769intergenic
chr206213046962130469CTrs140890899N0.04682590812440.1084275-UTREEF1A2
NM_001958 eukaryotic translation elongation factor 1 alpha 2MCF-7heart muscle
chr206213307362133073GArs880445N1.10158956609e-110.513578intergenic
chr206227258362272583GTrs3865523N1.09631027954e-050.6699283-UTRSTMN3
NM_001276310
NM_015894
SCLC-21Hcerebral cortex
chr206230955462309554CTrs41309367N1.55486293352e-060.611621ncRNARTEL1-TNFRSF6B
chr206232165562321655GArs2236506N5.19864588568e-050.696086synonymous SNVRTEL1
NM_001283010
NM_001283009
NM_016434
NM_032957
25,26,26,261605,535,2274,758,2274,758,2346,782535,758,758,782A=>A,A=>A,A=>A,A=>Aregulator of telomere elongation helicase 1HeLatestis
chr206260206262602062TGrs79903344N0.0002400431840210.281949upstreamZNF512B
zinc finger protein 512BMOLT-4skin
chr2080003868000386AGrs2205783N0.4866327941420.7400165-UTRTMX4
NM_021156 U-266/70testis
chr211090586510905865GArs28454907N2.67148607236e-05downstreamTPTE
transmembrane phosphatase with tensin homology
chr211099162010991620TCrs469689N3.73761688266e-090.850839upstreamTPTE
transmembrane phosphatase with tensin homology
chr211116924311169243ACrs209066N0.000114213398774intergenic
chr211441045514410455GArs66558909N0.00580931128934upstreamANKRD30BP2
chr211535840615358406AGrs1297059N2.14735146331e-100.960264intergenic
chr212022996120229961TGrs4239823N1.82716188846e-080.846845intergenic
chr212689079526890795TCrs6516676N8.99879942697e-130.82508intergenic
chr212783919227839192GArs219638N0.0003253408940510.185503ncRNACYYR1-AS1
chr212783919727839197AGrs75654436N0.002236908534540.0587061ncRNACYYR1-AS1
chr212820752028207522GCAGCCAN0.337173938751intergenic
chr213024734230247342ACrs2103488N6.1340625912e-090.870607intergenic
chr213186384731863847GCrs2251071N6.41942676793e-080.5543133-UTRKRTAP19-3
NM_181609 A-431adipose tissue
chr213193333731933337AGrs373438605N0.0001222881110150.00259585downstreamKRTAP19-7
A-431adipose tissue
chr213752885637528857CCTAN0.00875811651349upstreamCBR3-AS1
DOPEY2
chr214513811845138118TGrs1107204N1.7771253219e-110.639177upstreamPDXK
pyridoxal (pyridoxine, vitamin B6) kinaseCACO-2testis
chr214558703145587031AGrs8131733N7.21962081229e-080.891374intergenic
chr214562026545620265GTrs55893906N0.0006861652364020.214856intergenic
chr214576983945769849TAAAAGGAGACTAAAGGAGACN0.481169074774intergenic
chr214588212345882123CTrs2236676N4.07159632232e-060.614417intergenic
chr214639734646397348TGTTGTTGTCTGCACCCCGTN0.144074007869downstreamFAM207A
HELspleen
chr214774289447742898AGGACAGGGACN0.005977468099455-UTRC21orf58
NM_001286476
NM_058180
REHbone marrow
chr221700813917008139TCrs71326254N1.0395661775e-050.641174intergenic
chr221802781718027837CTTTTTTTTTTTTTTTTGCAGCTTTTTTTTTTTTTTTGCAGN0.0057473545894intronicCECR2
cat eye syndrome chromosome region, candidate 2NTERA-2testis
chr221888205818882058TGrs73378826D1.0upstreamLOC100996432
chr222065783520657837GGCGCGCD1.0ncRNALOC101927859
chr222079545420795454TCrs62219032N0.0003276604984420.135783downstreamKLHL22
kelch-like 22 (Drosophila)AN3-CAovary
chr222385398323853983CTrs6003759N4.28012072007e-070.674121intergenic
chr222385412523854125GCrs915580N7.28138189743e-080.701677intergenic
chr222424871224248712TCrs5760101N1.48946170953e-070.71885intergenic
chr222567923125679231GArs62233674N4.94552976452e-150.840256intergenic
chr222574664725746647CTrs133185N0.0002115708339260.397364downstreamLRP5L
U-2-OSbone marrow
chr222978478629784786GCrs5752906N0.0105203269050.489018upstreamAP1B1
adaptor protein complex AP-1, beta 1 subunitRT-4lymph node
chr223072327230723272CTrs4820833N0.02393331751230.999601upstreamTBC1D10A
TBC1 domain family, member 10aMOLT-4esophagus
chr223243894132438941TCrs2899172N8.1491791093e-081upstreamSLC5A1
solute carrier family 5 (sodium/glucose cotransporter), member 1CACO-2duodenum
chr223579512535795125GCrs5999821N9.85482451199e-090.508986upstreamMCM5
minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)REHbone marrow
chr223757635637576361TCCTCGTCCCTCGN0.02208003215493-UTRC1QTNF6
NM_031910
NM_182486
C1q and tumor necrosis factor related protein 6MCF-7uterus
chr223782431337824313GCrs133714N5.61461047255e-060.491613upstreamELFN2
leucine rich repeat and fibronectin type III, extracellular 2U-2-OScerebral cortex
chr223796440837964430CCAGCGCCTGCTGCAAACCCCTCCCN0.0117741031572nonframeshift substitutionCDC42EP1
NM_1522433757 U-138-MGstomach
chr223804344438043444CArs3213528N1.36865228342e-050.355631ncRNALOC101927051
chr223809289238092892GArs1004890N0.1674746423960.170927upstreamTRIOBP
TRIO and F-actin binding proteinTIMEspleen
chr223812004138120041GArs4821700N0.486632794142NNNNnonsynonymous SNVTRIOBP
NM_00103914171478493S=>NTRIO and F-actin binding proteinTIMEspleen
chr223813045938130459GTrs8140207N2.89615542215e-070.263978NNNNnonsynonymous SNVTRIOBP
NM_001039141941161372E=>DTRIO and F-actin binding proteinTIMEspleen
chr223871278238712782GCrs135766N0.02287326380610.995407intronicCSNK1E
LOC400927-CSNK1E
chr223881929638819296TCrs138404N1.70973113445e-091intergenic
chr223949632239496331TAACAACAAGTAACAAGN0.0236556269228nonframeshift substitutionAPOBEC3H
NM_001166002
NM_001166004
NM_181773
NM_001166003
2,2,2,239,39,39,39 Karpas-707lymph node
chr223949745239497454AAGGACN0.0784068256617nonframeshift substitutionAPOBEC3H
NM_001166002
NM_001166004
NM_181773
NM_001166003
3,3,3,3361,361,361,361 Karpas-707lymph node
chr223949976339499763TCrs139316N1.84741233422e-090.506193-UTRAPOBEC3H
NM_001166002
NM_001166003
NM_181773
Karpas-707lymph node
chr223963689939636920GTCTCTCTCTCTCTCTCTCTCAGTCTCTCTCTCTCTCTCTCTCTCTCAD0.9793159365655-UTRPDGFB
NM_033016 platelet derived growth factor, B polypeptideEFO-21placenta
chr223964427339644273GArs130651N8.23158075036e-090.790735intergenic
chr223983410239834102CGrs73167342N5.81411086387e-070.725639downstreamLOC100506472
TAB1
chr224016118140161219TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGGCTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGGCN8.7708918727e-05intronicENTHD1
ENTH domain containing 1SK-MEL-30testis
chr224041782040417820AGrs5995794N6.30136401014e-060.271166DNNNnonsynonymous SNVFAM83F
NM_13843541306436R=>GSCLC-21Htestis
chr224043697340436973GCrs11704416N0.0001098197972170.201278intergenic
chr224121542041215435GGGGGGGGGGCGGCTAGGTGGGGGGGGGCGGCTAN0.486632794142upstreamSLC25A17
solute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17K-562ovary
chr224147052241470522GArs8136923N8.27876192488e-060.250799upstreamSNORD140
chr224157496941574976TGTAGTATTGTATD0.9999154806143-UTREP300
NM_001429 COLORECTAL CANCER, SOMATICE1A binding protein p300HL-60bone marrow
chr224163711941637119GTrs4820434N0.08787714689970.219249upstreamCHADL
BEWOcerebral cortex
chr224192364441923644GArs17367849N0.001933405175810.1930913-UTRPOLR3H
NM_001018050
NM_001018052
NM_001282885
NM_138338
NM_001282884
polymerase (RNA) III (DNA directed) polypeptide HHEK-293cerebral cortex
chr224198595641985958GGCTGAN0.486632794142upstreamPMM1
phosphomannomutase 1U-87-MGovary
chr224217745342177453GCrs4822050N0.0004817975568590.380192intronicMEI1
meiosis defective 1U-266/70appendix
chr224219541042195410TCrs139561N9.91520646494e-050.1591453-UTRMEI1
NM_152513 meiosis defective 1U-266/70appendix
chr224231758142317606CAAAAAAAAAAACAAAACAAAAAGGTCAAAAAAAAAAAACAAAACAAAAAGGTN0.0382126159966intergenic
chr224252394342523943AGrs16947N4.38415348469e-080.640775nonsynonymous SNVCYP2D6
NM_000106
NM_001025161
6,5886,733296,245C=>R,C=>RDEBRISOQUINE, POOR METABOLISM OFU-266/70liver
chr224253740442537404GCrs2854741N1.64172689665e-070.827676ncRNACYP2D7
chr224253802942538029AGrs1058167N2.87545617539e-060.553315ncRNACYP2D7
chr224254055142540551AGrs2743461N0.0001937890046970.375599ncRNACYP2D7
chr224268020142680201TCrs76462269N0.01181779243050.107827upstreamTCF20
transcription factor 20Daudithyroid gland
chr224318207343182077CAACGCACGN0.0109078660607intergenic
chr224356230643562306AGrs138926N3.79426296604e-060.592252downstreamTTLL12
tubulin tyrosine ligase-like family, member 12K-562esophagus
chr224476050144760501CTrs5765777N8.43639868793e-140.108826intergenic
chr224476179744761797TArs5765809N2.19771868615e-060.370807intergenic
chr224525849545258495AGrs8777N1.88765980624e-070.5595053-UTRARHGAP8
NM_001017526
NM_001198726
NM_181335
NM_181334
Rho GTPase activating protein 8BEWOsalivary gland
chr224556018445560184AGrs564607N0.007054940797391intronicNUP50
nucleoporin 50HL-60bone marrow
chr224568024145680241AGrs2742627N1.48129597477e-081upstreamUPK3A
uroplakin 3ART-4prostate
chr224568038745680387GArs2742629N0.04017544910310.40615upstreamUPK3A
uroplakin 3ART-4prostate
chr224568082445680824AGrs2255432N1.66050704138e-050.777955upstreamUPK3A
uroplakin 3ART-4prostate
chr224636813046368130TCrs62226057N8.54360635572e-080.778554intronicWNT7B
wingless-related MMTV integration site 7BA-549skin
chr224644989146449891GArs12159707N0.3133421242240.215455DDNnonsynonymous SNVPRR34
NM_01828018328P=>L
chr225005084750050847GArs9616333N0.1928095519540.4422925-UTRC22orf34
NM_001289922 MOLT-4spleen
chr225005178650051786TCrs5770623N1.09152530764e-111upstreamC22orf34
MOLT-4spleen
chr225022199450221994CGrs6009885N0.0009906248888upstreamBRD1
bromodomain containing 1REHtestis
chr225043260450432604CArs137841N2.47974003287e-060.23722downstreamIL17REL
SK-BR-3stomach
chr225045168750451687TCrs137873N6.12132998867e-060.604832upstreamIL17REL
SK-BR-3stomach
chr225045177150451771CTrs713669N6.10924053035e-060.593051upstreamIL17REL
SK-BR-3stomach
chr225046893350468933GTrs79298N0.4866327941420.339257NNNNintergenic
chr225060061950600619CTrs730341N4.52054564448e-060.466853downstreamMOV10L1
Moloney leukemia virus 10-like 1TIMEtestis
chr225064685950646882CAAAAAAAAAAAAAAAATAGCCACCAAAAAAAAAAAAAAATAGCCACD0.979821324348intronicSELO
chr225064693650646936GCrs5771102N1.91916797121e-070.701877intronicSELO
chr225067857150678571TCrs5771109N2.18044715439e-050.384185intronicTUBGCP6
tubulin, gamma complex associated protein 6HeLaspleen
chr225074710150747101TCrs62241218N0.1633798927070.569289intergenic
chr225118325551183255AGrs5771002N6.7821798666e-070.725839NNNDnonsynonymous SNVACR
NM_0010975886296M=>Vacrosin prepropeptideNTERA-2testis
chr31086894410868944AGrs11128528N6.50064757792e-050.4896173-UTRSLC6A11
NM_001317406 solute carrier family 6 (neurotransmitter transporter, GABA), member 11Hep-G2cerebral cortex
chr3108754320108754335TAAAAAAAAAAGCAGGTAAAAAAAAAAAAGCAGGN0.0295711159706intronicMORC1
microrchidia 1RPMI-8226testis
chr3112253193112253212CAAAAAAAAAAAAAATTGTTCAAAAAAAAAAAAATTGTTN0.486632794142intronicATG3
autophagy related 3U-698testis
chr3112280706112280706CGrs2399431N0.4866327941420.9744415-UTRATG3
NM_001278712
NM_022488
autophagy related 3U-698testis
chr31131391011313910GArs2594971N0.2167743742470.504992upstreamATG7
BEWOlymph node
chr31151875511518755TCrs4684782N1.78885954938e-070.491214intronicATG7
BEWOlymph node
chr31194279711942797TCrs407006N9.79034240345e-080.326478intergenic
chr3121265043121265043CTrs13065220N0.4866327941420.744409upstreamPOLQ
polymerase (DNA directed), thetaU-698bone marrow
chr3122130751122130751TCrs11553085N0.01414874754850.5031953-UTRWDR5B
NM_019069 WD repeat domain 5BSK-MEL-30thyroid gland
chr3122474284122474309TAAAAAAAAAAAAAAAAGATACAAGTTAAAAAAAAAAAAAAAAAGATAAAAGTN0.000857625622302intronicHSPBAP1
Hspb associated protein 1SK-MEL-30spleen
chr3128792751128792751GArs4927903N5.24371995478e-130.90016intergenic
chr3129045278129045278TCrs6801264N5.12874098746e-090.857827intergenic
chr3129800155129800155TCrs79340532N0.000141702766996upstreamALG1L2
chr3129800163129800163CGrs79213870N0.000133009205456upstreamALG1L2
chr3133307491133307491TCrs6792846N2.27956279559e-050.9219253-UTRCDV3
NM_001134422
NM_001282762
NM_017548
NM_001134423
NM_001282763
NM_001282764
NM_001282765
carnitine deficiency-associated gene expressed in ventricle 3U-698lymph node
chr3134370556134370556GTrs6439506N0.4866327941420.896965upstreamKY
kyphoscoliosis peptidaseU-87-MGskin
chr31367968813679688TArs1061390N0.000205342017580.24983-UTRFBLN2
NM_001004019
NM_001998
NM_001165035
fibulin 2HMC-1adipose tissue
chr3138091701138091701GTrs1199333N3.58105474163e-080.884185intronicMRAS
muscle and microspikes RASEFO-21adipose tissue
chr31392182313921823CTrs34268746N2.610747174e-080.544129upstreamWNT7A
wingless-related MMTV integration site 7AEFO-21cerebral cortex
chr31452666714526686CGTGTGTGTGTGTGTGTGTACGTGTGTGTGTGTGTGTGTGTGTAD0.958108425143-UTRSLC6A6
NM_001134367
NM_003043
solute carrier family 6 (neurotransmitter transporter, taurine), member 6WM-115ovary
chr31453162714531631GCCTGCCCTCN0.0003320647228973-UTRGRIP2
NM_001080423 glutamate receptor interacting protein 2
chr3151171439151171439ACrs7619322N2.96118651022e-060.727835NPPNnonsynonymous SNVIGSF10
NM_1788223448150Y=>Dimmunoglobulin superfamily, member 10RPMI-8226gallbladder
chr3151217309151217309GTrs7615314N2.1449291232e-090.838059intergenic
chr31556339115563391ATrs4684250N2.17593656851e-131upstreamCOLQ
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCYcollagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesteraseBEWOheart muscle
chr3158366900158366900GArs2303909N7.1193576332e-060.583267NNNNnonsynonymous SNVGFM1
NM_001308164
NM_001308166
NM_024996
5,5,5643,643,643215,215,215V=>I,V=>I,V=>IG elongation factor, mitochondrial 1RPMI-8226kidney
chr3158390395158390395ATrs9841N0.4866327941420.4091455-UTRLXN
NM_020169 MCF-7ovary
chr3158409262158409262CTrs1047355N3.77542505703e-060.4091453-UTRGFM1
NM_001308164
NM_024996
G elongation factor, mitochondrial 1RPMI-8226kidney
chr3158422506158422506GArs4680457N6.02349746259e-060.5832673-UTRRARRES1
NM_002888 retinoic acid receptor responder (tazarotene induced) 1CAPAN-2appendix
chr3158537443158537443AGrs3765083N0.01607846841220.559305NNNNnonsynonymous SNVMFSD1
NM_022736
NM_001167903
NM_001289406
NM_001289407
8,7,7,8805,688,367,439269,230,123,147I=>V,I=>V,I=>V,I=>Vmajor facilitator superfamily domain containing 1HL-60esophagus
chr31590142815901428ACrs9883697N0.05072505027061upstreamANKRD28
ankyrin repeat domain 28Karpas-707bone marrow
chr31590144615901446TGrs11717575N0.07421360909941upstreamANKRD28
ankyrin repeat domain 28Karpas-707bone marrow
chr3160955879160955903GGGCTTTTTTTTTTTTTTTAAGATGTGGCTTTTTTTTTTTTTAAGATGD0.839239954948exonicNMD3
NMD3 homolog (S. cerevisiae)MCF-7urinary bladder
chr3161091089161091089GCrs460508N0.0002973171358460.792732upstreamSPTSSB
serine palmitoyltransferase, small subunit BMCF-7stomach
chr3163720950163720950AGrs9814800N6.87971422053e-080.616813intergenic
chr3163889384163889384TCrs10936412N1.98009752239e-060.552716upstreamMIR1263
chr31645087216450872TCrs1546650N1.72283819211e-060.63099intronicRFTN1
raftlin lipid raft linker 1HDLM-2lymph node
chr3167000256167000256GCrs12638625N0.000328706781147NNNNnonsynonymous SNVZBBX
NM_001199202
NM_001199201
NM_024687
19,20,191820,607,2024,675,1907,636607,675,636A=>G,A=>G,A=>Gzinc finger, B-box domain containingCAPAN-2testis
chr3168538993168538993AGrs603638N1.65983518596e-100.853235ncRNAEGFEM1P
chr3168546914168546914CTrs678690N1.11332285613e-080.521565ncRNAEGFEM1P
chr31692649116926491GArs6442654N0.002097945194695-UTRPLCL2
NM_001144382 phospholipase C-like 2Daudiovary
chr31692652116926523CTGCGN0.09945816546685-UTRPLCL2
NM_001144382 phospholipase C-like 2Daudiovary
chr31692652416926526CTGCGN0.08681470900775-UTRPLCL2
NM_001144382 phospholipase C-like 2Daudiovary
chr31692654916926549TGN0.0154966115952intronicPLCL2(NM_001144382:exon2:c.13+1T>G)
chr31692656116926563CTGCGN0.0716609060764exonicPLCL2
phospholipase C-like 2Daudiovary
chr31692656716926567TCrs373958057N1.04537343759e-061exonicPLCL2
phospholipase C-like 2Daudiovary
chr31697461016974610CArs9880307N1.01050915191e-070.4838265-UTRPLCL2
NM_015184 phospholipase C-like 2Daudiovary
chr3170078232170078232CTrs3772173N0.0001394340943080.690296NNNNnonsynonymous SNVSKIL
NM_001248008
NM_001145097
NM_005414
NM_001145098
1,1,2,3113,113,113,5338,38,38,18A=>V,A=>V,A=>V,A=>VSKI-likeEFO-21gallbladder
chr3172118995172118995CArs1285080N3.71383421793e-080.899561downstreamFNDC3B
fibronectin type III domain containing 3BEFO-21thyroid gland
chr3172549081172549092GAAAAAAATCAGGAAAAAATCAGN0.00900333467871intergenic
chr317717491771749ACrs6442664N1.06031620817e-070.726438intergenic
chr3178984772178984784TTCTCTCTCTTTGTTCTCTCTCTCTTTGN3.12624615617e-065-UTRKCNMB3
NM_001163677
NM_171828
THP-1placenta
chr31805523118055231ACrs61978649N2.86614204015e-060.457468nonsynonymous SNVLOC339862
NM_00125717729432S=>R
chr31848617318486173GArs62240975N0.00358715583570.3358635-UTRSATB1
NM_001322871
NM_001322873
NM_001322876
NM_001322872
special AT-rich sequence binding protein 1HDLM-2cerebral cortex
chr3186304313186304313GTrs7630822N2.43992616333e-070.595447downstreamDNAJB11
DnaJ (Hsp40) homolog, subfamily B, member 11Karpas-707liver
chr3186427289186427292TTGCCTGAN6.18863341515e-05intergenic
chr3186427289186427292TTGCCTGCN6.18863341515e-05intergenic
chr3186545178186545178AGrs266770N0.2249765694140.891374intergenic
chr3191692859191692859GCrs6444605N5.75777925338e-100.820487intergenic
chr3191692874191692874TCrs6444606N4.07236189215e-100.820887intergenic
chr3195270725195270725ATrs73196147N1.10170904009e-050.323482upstreamPPP1R2
U-266/70bone marrow
chr3195370151195370151TCrs144800463N0.06260290741920.839058intergenic
chr3195512103195512107GGTGTAGTGAN0.000986047554761nonframeshift substitutionMUC4
NM_01840626344 mucin 4A-431colon
chr3195512103195512107GGTGTGGTGAN0.000986047554761nonframeshift substitutionMUC4
NM_01840626344 mucin 4A-431colon
chr3195723058195723058GCrs4927843N0.0273947417736intergenic
chr32021218920212189AGrs1052930N4.3971678565e-070.8214863-UTRSGO1
NM_001012409
NM_001012411
NM_001012413
NM_001199251
NM_001199253
NM_001199255
chr32384721123847211CArs3762767N0.01384304929520.322484ncRNAUBE2E1-AS1
chr32398784223987842AGrs9862416N0.4866327941420.425919intronicNR1D2
nuclear receptor subfamily 1, group D, member 2U-2-OSthyroid gland
chr32563997325639984ATTTTTTTTCAAATTTTTTTTTCAAD0.944231152534intronicTOP2B
topoisomerase (DNA) II betaREHlymph node
chr32570627725706277ACrs10433573N0.06237483397130.374002upstream,downstreamTOP2B;MIR4442
chr32952991329529930TTCTCTCTCTCTCTTTCATTCTCTCTCTCTTTCAN0.0693407654762intronicRBMS3
RNA binding motif, single stranded interacting proteinWM-115thyroid gland
chr33220760632207606AGrs6799559N3.06904294121e-050.4788343-UTRGPD1L
NM_015141 BEWOheart muscle
chr33263518432635184CTrs34426524N0.003682638984170.112021intergenic
chr33835051938350519GArs818818N1.48880559436e-070.825479NNNNexonicSLC22A14
solute carrier family 22 (organic cation transporter), member 14AN3-CAtestis
chr33985103039851030GCrs71614181N8.67274284246e-050.703674intronicMYRIP
myosin VIIA and Rab interacting proteinSH-SY5Ycerebral cortex
chr34275032442750324GArs2240861N1.25307487906e-050.1990813-UTRCCDC13
NM_144719 coiled-coil domain containing 13HMC-1testis
chr344038174403818TTACN0.002660506404943-UTRSUMF1
NM_001164674
NM_001164675
NM_182760
sulfatase modifying factor 1CAPAN-2kidney
chr34428352544283525AGrs9850927N8.29844387651e-110.8442495-UTRTOPAZ1
NM_001145030 A-431testis
chr34428458444284584GArs9284879N3.04599097944e-060.563498DNNNnonsynonymous SNVTOPAZ1
NM_0011450302586196V=>IA-431testis
chr34461205044612050CTrs9873604N2.81477838371e-070.752196NNNNnonsynonymous SNVZKSCAN7
NM_001288590
NM_001288592
NM_018651
6,5,61448,995,1448483,332,483T=>I,T=>I,T=>ISH-SY5Yovary
chr34469256444692564CGrs2272044N1.21762525396e-070.315296DPNNnonsynonymous SNVZNF35
NM_003420252T=>SNTERA-2testis
chr34477596244775962AGrs4682752N1.18061814192e-060.695288DNNNnonsynonymous SNVZNF501
NM_001258280
NM_145044
3,349,4917,17M=>V,M=>VNTERA-2testis
chr34480310844803123AAAGACAGAAGACAGGAAAGACAGGN0.4866327941425-UTRKIAA1143
NM_001320334
NM_020696
U-266/84ovary
chr34482631544826337GTTTTTTTTTTCATTTTTTTAGGGTTTTTTTTTTTCATTTTTTTAGGD0.980523943901frameshift substitutionKIF15
NM_0202426362 kinesin family member 15MOLT-4testis
chr34485456344854563AGrs3762636N6.73015238135e-050.540935intronicKIF15
kinesin family member 15MOLT-4testis
chr34488464744884647CArs3804583N4.76758472701e-080.527756NNNNnonsynonymous SNVKIF15
NM_0202423036161206L=>Mkinesin family member 15MOLT-4testis
chr34492928744929287GCrs2271087N1.42893298971e-070.427117DPPDnonsynonymous SNVTGM4
NM_0032413300100E=>Dtransglutaminase 4 (prostate)BEWOprostate
chr34493001444930014CTrs12632251N2.32974795011e-080.426518intronicTGM4
transglutaminase 4 (prostate)BEWOprostate
chr34494338944943389GArs1995641N6.09608861168e-080.555112NPNNnonsynonymous SNVTGM4
NM_0032418937313E=>Ktransglutaminase 4 (prostate)BEWOprostate
chr34571515945715165CTTTTAGCTTTAGN0.365564525127intronicLIMD1
LIM domains containing 1U-266/84lung
chr34650128446501286CCTCCTTCTN0.00804625824094nonframeshift substitutionLTF
NM_002343267 lactotransferrinRPMI-8226bone marrow
chr34671706546717065CGrs7635360N6.11978450138e-080.308307intronicALS2CL
ALS2 C-terminal likeCAPAN-2skin
chr34712538547125385GArs4082155N1.99896488251e-100.469848NNNNnonsynonymous SNVSETD2
NM_0141591258851962P=>LSET domain containing 2Daudibone marrow
chr34714739347147427CAAAAAAAAAAAAAAAAAAAAAATCAAATCAGTATCAAAAAAAAAAAAAAAAAAATCAAATCAGTATN0.402186155319intronicSETD2
SET domain containing 2Daudibone marrow
chr34716121447161214TCrs11923706N2.7186709417e-070.679313intronicSETD2
SET domain containing 2Daudibone marrow
chr34728230347282303GArs2276853N4.73133127343e-070.560104DDPNnonsynonymous SNVKIF9
NM_001134878
NM_182902
NM_022342
18,17,161912,1912,1717638,638,573R=>W,R=>W,R=>Wkinesin family member 9PC-3testis
chr34732249647322496CTrs807936N0.2741329073910.488219intronicKIF9
kinesin family member 9PC-3testis
chr34745967947459679CTrs12487736N0.4866327941420.452276NNNNexonicSCAP
SREBF chaperoneHELadrenal gland
chr34755514247555142CArs2291298N0.4866327941420.5177725-UTRELP6
NM_001031703 HELadrenal gland
chr34904046249040462AGrs6772452N2.01562586066e-110.796725intronicP4HTM
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)CAPAN-2thyroid gland
chr34905469249054692TCrs3087866N0.0002166758204110.904952NNNNnonsynonymous SNVDALRD3
NM_001276405
NM_001009996
NM_018114
5,5,5896,896,395299,299,132Q=>R,Q=>R,Q=>RDALR anticodon binding domain containing 3U-266/70testis
chr34929813949298139GArs7626076N4.09788158962e-090.875intergenic
chr34973950749739507GCrs1491985N1.58021616625e-110.848442intronicRNF123
ring finger protein 123NB-4bone marrow
chr34975018849750188TArs3749240N3.81185127907e-090.597045intronicRNF123
ring finger protein 123NB-4bone marrow
chr34975300349753003TGrs34614773N3.63357030437e-050.584864intronicRNF123
ring finger protein 123NB-4bone marrow
chr35022292650222926TArs1046956N7.89481049424e-080.765974NNNNexonicSEMA3F
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3FTIMEskin
chr35022615150226151TCrs14321N1.7486494891e-110.7671733-UTRSEMA3F
NM_001318798
NM_004186
NM_001318800
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3FTIMEskin
chr35059483650594836GArs129310N9.60542820394e-070.711661downstreamC3orf18
HDLM-2heart muscle
chr35068606250686062GArs1385025N2.16179341095e-090.7200483-UTRMAPKAPK3
NM_001243926
NM_001243925
NM_004635
mitogen-activated protein kinase-activated protein kinase 3U-937heart muscle
chr35285206052852060TCrs2245538N3.72562294615e-060.507788intronicITIH4
inter alpha-trypsin inhibitor, heavy chain 4U-266/70liver
chr35325870853258716TGGGGGGCATGGGGGGGCAN2.49262598118e-07downstreamTKT
transketolaseA-549bone marrow
chr35391010953910129TGGGGGGGGAAAAGAAAAGGCTGGGGGGGGGAAAAAAAAAGGCD0.81317025423intronicACTR8
ARP8 actin-related protein 8U-266/84testis
chr35391010953910129TGGGGGGGGAAAAGAAAAGGCTGGGGGGGGGAAAAAAAGGCD0.81317025423intronicACTR8
ARP8 actin-related protein 8U-266/84testis
chr35391588453915895TCCCCCCACCAGTCCCCACCAGN0.486632794142intronicACTR8
ARP8 actin-related protein 8U-266/84testis
chr35392601753926017TCrs1992155N0.005917012225840.682508upstreamSELK
chr36154727461547274GArs73093079N0.4866327941420.05950485-UTRPTPRG
NM_002841 protein tyrosine phosphatase, receptor type, GU-2197adipose tissue
chr36235566662355688GTTTTTTTTTCTTTTAATTTTAGGTTTTTTTTTTCTTTTAATTTTAGN0.159462139013-UTRFEZF2
NM_018008 Fez family zinc finger 2NTERA-2cerebral cortex
chr36921869669218696TCrs12494541N6.27858165458e-090.8474443-UTRFRMD4B
NM_015123 FERM domain containing 4BCACO-2thyroid gland
chr37315998573159991AAAACGTCAAAGGCN0.486632794142intergenic
chr37316001573160015TArs113413057N0.486632794142intergenic
chr37316002273160022TGrs111744105N0.486632794142intergenic
chr37316003473160036TGGCGCN0.486632794142intergenic
chr37316005073160054AAGGCGAGGGN0.486632794142intergenic
chr37316005973160059AGrs77103175N0.486632794142intergenic
chr377327267732742ATTTTTTTTTTTGGCTGATTTTTTTTTTGGCTGN0.0415328480303intronicGRM7
glutamate receptor, metabotropic 7SH-SY5Ycerebral cortex
chr386693618669361CArs1533001N2.19304226334e-070.460064intronicSSUH2
Hep-G2testis
chr386713198671342CTGACTCACCAGTGGTTCACAGATCTGACTCACCAGTGGTTCACAGATGACTCACCAGTGGTTCACAGATN0.038804050535intronicSSUH2
Hep-G2testis
chr397987739798773CGrs1052133N9.25346171243e-070.302117NNNNnonsynonymous SNVOGG1
NM_002542
NM_016820
7,7977,994326,332S=>C,P=>ADaudikidney
chr39850176098501762TACTAAAACD0.9870649576195-UTRST3GAL6
NM_001323358
NM_001323359
ST3 beta-galactoside alpha-2,3-sialyltransferase 6SK-MEL-30heart muscle
chr39850176498501767CAGCCCD0.9967581629755-UTRST3GAL6
NM_001323358
NM_001323359
ST3 beta-galactoside alpha-2,3-sialyltransferase 6SK-MEL-30heart muscle
chr399323379932337GCrs279558N0.4866327941420.6232035-UTRJAGN1
NM_032492 jagunal homolog 1 (Drosophila)BEWOadrenal gland
chr410053841005391CGGGGGTCCGGGGTCN0.262174546719upstreamFGFRL1
fibroblast growth factor receptor-like 1PC-3thyroid gland
chr41016871210168712GTrs6842858N3.15180628263e-080.972644intergenic
chr41016873710168737CGrs6813634N3.32903411504e-080.971046intergenic
chr410506531050653GArs3816474N1.44712380967e-100.835264intergenic
chr41066952210669522ACrs13136927N2.0060551833e-050.4117415-UTRCLNK
NM_052964 cytokine-dependent hematopoietic cell linkerHDLM-2kidney
chr410871681087171AATGAATATTN0.006939368322493-UTRRNF212
NM_001193318 ring finger protein 212HeLaovary
chr410873271087329GACGCTGCCCAGGCTGGAGCCAGCCATN0.000620116945356nonframeshift substitutionRNF212
NM_0011933184720 ring finger protein 212HeLaovary
chr410906251090625GArs4045481N1.80078973244e-060.546725synonymous SNVRNF212
NM_001193318
NM_001131034
NM_194439
3,3,3174,58,174,58,174,5858,58,58T=>T,T=>T,T=>Tring finger protein 212HeLaovary
chr411642771164277CGrs2279279N8.23881521228e-070.553315NNNNnonsynonymous SNVSPON2
NM_001128325
NM_001199021
NM_012445
6,7,5724,724,724242,242,242V=>L,V=>L,V=>Lspondin 2, extracellular matrix proteinKarpas-707prostate
chr411651301165130GTrs11247975N0.004628940485420.554513NNNNnonsynonymous SNVSPON2
NM_001128325
NM_001199021
NM_012445
4,5,3365,365,365122,122,122A=>E,A=>E,A=>Espondin 2, extracellular matrix proteinKarpas-707prostate
chr412223021222302GArs900020N4.64310756509e-100.627796intronicCTBP1
C-terminal binding protein 1MOLT-4spleen
chr412356431235643AGrs2101094N4.89203785037e-060.840056intronicCTBP1
C-terminal binding protein 1MOLT-4spleen
chr412444161244416AGrs1732115N8.08847238319e-130.819089ncRNACTBP1-AS2
chr4128415066128415095CAAAAAAAAAAAAAAAAACACAGTAAAGACCAAAAAAAAAAAAAAACACAGTAAAGACN0.0134770087898intergenic
chr4128415066128415095CAAAAAAAAAAAAAAAAACACAGTAAAGACCAAAAAAAAAAAAAACACAGTAAAGACN0.00644071958959intergenic
chr413036821303682GTrs13112706N0.02611771970990.2380195-UTRMAEA
NM_001297433 macrophage erythroblast attacherSCLC-21Hspleen
chr413887901388790TCrs79415192N0.0251526664943NNNNnonsynonymous SNVCRIPAK
NM_1759181491164V=>ATIMEskin
chr413890051389006TGCAN0.479299396276nonframeshift substitutionCRIPAK
NM_1759181706 TIMEskin
chr413891011389101AGrs71614971N0.0339619182050.19988NNNNnonsynonymous SNVCRIPAK
NM_1759181802268S=>GTIMEskin
chr4139100372139100372CTrs4479754N1.58008504059e-060.913538intronicSLC7A11(NM_014331:exon12:c.1442+1G>A)
chr4139585573139585573CTrs6823417N3.29823890421e-100.617013intergenic
chr4144938047144938047CTrs12503691N0.001699942396950.319089intronicGYPB
HELbone marrow
chr415517941551794GTrs73192390N1.06068137029e-050.804712intergenic
chr415532571553257TCrs73192392N4.56775453017e-080.760783intergenic
chr41596486315964863GTrs4698433N0.4183289408680.345647upstreamFGFBP2
SK-MEL-30bone marrow
chr4160322728160322730CTCCTTCN0.000317425554385intergenic
chr416415781641578AGrs6829285N0.001047288184050.274161downstreamFAM53A
family with sequence similarity 53, member ASCLC-21Htestis
chr4165949047165949047AGrs4691144N0.0006179204792720.998602intergenic
chr4165981768165981782GTTTTTTTTTAATGGGTTTTTTTTTTAATGGN0.00328917056322intergenic
chr4183271186183271201GAAAAAAAAAAATGTTGAAAAAAAAAAAAATGTTN0.0151469735429intronicTENM3
teneurin transmembrane protein 3HDLM-2placenta
chr4185860274185860274ACrs6846090N3.5998187542e-080.877796upstreamMIR4455
chr4187065876187065905GCGGGGCCGGGGCCGGGGCCGGGGCCCGGAGCGGGGCCGGGGCCGGGGCCCGGAN0.151240393519upstreamFAM149A
family with sequence similarity 149, member ASCLC-21Hkidney
chr4187065924187065924AGrs2310392N7.96556851128e-050.888578upstreamFAM149A
family with sequence similarity 149, member ASCLC-21Hkidney
chr4190580654190580654CArs62325033N7.73592983023e-05upstreamLINC01262
chr4190582969190582969GArs2148725N0.000493541709147downstreamLINC01262
chr4190582977190582981TGGAGCGGAAN0.000371191999875downstreamLINC01262
chr4190583004190583010TGGTGTGGGGCATTN7.43505665923e-08downstreamLINC01262
chr4190598318190598318GTrs5010097N0.000805710500572upstreamLOC105379514
chr4199208199208AGrs61794993N7.62341798577e-080.396166intergenic
chr4199286199286AGrs61794994N3.29684326061e-070.399361intergenic
chr420108312010831GCrs231189N0.4866327941420.3089065-UTRNELFA
NM_005663 NB-4testis
chr422874212287421ACrs11737692N1.03191633016e-080.630591intronicZFYVE28
zinc finger, FYVE domain containing 28U-266/70small intestine
chr423323192332319CGrs3135115N1.77449365424e-070.2034743-UTRZFYVE28
NM_001172657 zinc finger, FYVE domain containing 28U-266/70small intestine
chr4247825247825GArs10028482N2.40000841423e-090.291534ncRNAZNF876P
chr42575910925759132CTTTTTTTTTTTTTAATATATTGCCCTTTTTTTTTTTTAATATATTGCN0.0102034285665intronicSEL1L3
sel-1 suppressor of lin-12-like 3 (C. elegans)Daudilymph node
chr4264941264941AGrs11731285D0.9992788434030.265575NNNNnonsynonymous SNVZNF732
NM_00113760831702568W=>RNTERA-2testis
chr42686254626862572CTTTTTTTTTTTTTTTTTTAAATAACCCTTTTTTTTTTTTTTTTAAATAACCN0.393361806875-UTRSTIM2
NM_001169117
NM_001169118
NM_020860
stromal interaction molecule 2REHlymph node
chr4299261299261GArs79657896N0.1626629084350.138978intergenic
chr430766033076661CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCN0.0251071602106exonicHTT
huntingtinHMC-1skin
chr432742143274214TCrs6446726N2.2055512261e-070.565495intergenic
chr436358113635811CTrs1977175N1.70847613834e-090.993011intergenic
chr4368258368258TCrs3805233N0.002170589985330.13758downstreamZNF141
SCLC-21Hadrenal gland
chr437595383759538TGrs3934515N2.83611115037e-070.985623intergenic
chr437651903765190CTrs56130178N2.32778529607e-050.215256intergenic
chr43782220337822205GGTGCGTN0.0310036502779intergenic
chr43782817537828175TCrs2059484N0.4866327941420.686502upstreamPGM2
phosphoglucomutase 2U-251-MGesophagus
chr43838790038387900CGrs6812640N4.26505608608e-100.405152intergenic
chr4387579387590CTCTTTTCTTTACTCTTTAN0.001904511475intergenic
chr43904658639046588CAGCGN0.2213450372225-UTRKLHL5
NM_001007075
NM_001171654
kelch-like 5 (Drosophila)U-138-MGadipose tissue
chr43927662339276625AGTAGGTD0.579039692879intronicWDR19
WD repeat domain 19HeLathyroid gland
chr43936808339368083CTrs3736168N0.4866327941420.414736upstreamRFC1
replication factor C (activator 1) 1MOLT-4lymph node
chr44198510141985101AGrs2660332N5.32428884981e-070.6615423-UTRDCAF4L1
NM_001029955 REHtestis
chr441996344199634ATrs2916414N2.22345164502e-070.66234NNNNnonsynonymous SNVOTOP1
NM_1779985927309D=>Eotopetrin 1A-431esophagus
chr4420688420688CTrs2280250N6.12520310028e-080.389377ncRNAABCA11P
chr44240356142403561TCrs55934419N0.08868668228390.3272763-UTRSHISA3
NM_001080505 shisa homolog 3 (Xenopus laevis)AN3-CAkidney
chr44265902842659028TCrs12503784N3.65528831026e-050.4432915-UTRATP8A1
NM_001105529
NM_006095
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1Daudithyroid gland
chr44265913942659139GArs4629487N0.003935113549230.273363upstreamATP8A1
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1Daudithyroid gland
chr44633470246334702AGrs279827N3.21460720443e-050.412939intronicGABRA2
gamma-aminobutyric acid (GABA) A receptor, subunit alpha 2U-2-OScerebral cortex
chr44921201249212016ACTGATCTGTD0.999999284744intergenic
chr44958998649589987TGCAD0.999999761581intergenic
chr45718057657180581CGGAGCCGGAGCGGAGGGAGCGGAGGGAGCN9.38352684443e-09nonframeshift substitutionKIAA1211
NM_0207228908 SH-SY5Ytestis
chr458036695803669TCrs1031919N2.18017532916e-080.690495intronicEVC
Ellis van Creveld gene syndromeU-87-MGovary
chr46991038269910382TArs4694588N0.0003021754673680.469449intergenic
chr47157013471570134GArs1891451N2.34794317322e-090.415535upstreamRUFY3
RUN and FYVE domain containing 3SCLC-21Hcerebral cortex
chr47157025571570255GArs3753042N0.002098832977940.858427upstreamRUFY3
RUN and FYVE domain containing 3SCLC-21Hcerebral cortex
chr47176790671767906TArs1871049N0.001470451359640.932907upstreamMOB1B
MOB kinase activator 1BHELkidney
chr47267063272670653GGGAGGAGGAGGAGGAGGAGGCGGGAGGAGGAGGAGGAGGCN0.0769145786762intronicGC
group specific componentRH-30liver
chr47367226373672263TCrs2622683N2.23147225142e-080.970048intergenic
chr47441023774410237GArs11728915N5.01283193444e-060.552915intergenic
chr47446444374464460TAAAAAAAAATTAATTACTAAAAAAAATTAATTACD0.623769879341intronicRASSF6
Ras association (RalGDS/AF-6) domain family member 6Daudistomach
chr476558557655855CTrs2285789N2.01534201724e-180.552316intronicSORCS2
sortilin-related VPS10 domain containing receptor 2SiHacerebral cortex
chr477160617716061CTrs16840892N1.67749976754e-060.109425NNNNnonsynonymous SNVSORCS2
NM_020777162084695T=>Msortilin-related VPS10 domain containing receptor 2SiHacerebral cortex
chr47897841278978412TCrs28433362N0.0188489779830.547724upstreamFRAS1
Fraser syndrome 1 homolog (human)SiHathyroid gland
chr479668127966812GArs4696709N0.2594690918920.291733downstreamABLIM2
actin-binding LIM protein 2U-2197spleen
chr48213650082136500GCrs788862N0.001793980714870.289537upstreamPRKG2
protein kinase, cGMP-dependent, type IIHELsmall intestine
chr48445614284456142GCrs7672304N0.00324446754530.409345upstreamGPAT3
chr48937805689378061CGGGACCGGGGACN0.486632794142upstreamHERC5
SK-MEL-30testis
chr491544269154426CTrs144776921N0.4866327941420.896765intergenic
chr491544489154448AGrs144519707N0.4866327941420.896765intergenic
chr491545359154535TCrs34664951N0.006996095646170.910942intergenic
chr4942006942006GArs2290403N0.4866327941420.2919335-UTRTMEM175
NM_001297423
NM_001297427
transmembrane protein 175Karpas-707spleen
chr494707379470737AGrs6852208N0.0103483898565intergenic
chr4954275954277TGTCGCN0.001652719802223-UTRDGKQ
NM_001347 diacylglycerol kinase, thetaNB-4small intestine
chr495657769565776AGrs13107224N2.35611409494e-070.994808intergenic
chr496013659601365CTrs1842489N8.94097411219e-070.848043intergenic
chr496935259693525TGrs6836657N0.02593398466710.996406intergenic
chr5102091073102091073TCrs447531N0.02126062475140.504393intronicPAM
peptidylglycine alpha-amidating monooxygenaseU-87-MGheart muscle
chr5102886512102886512TCrs58006145N0.1281379163270.2464063-UTRNUDT12
NM_001300741
NM_031438
CAPAN-2kidney
chr5102890560102890574GAAAAAAAAAATCAGGAAAAAAAAAAATCAGN0.273600041866intronicNUDT12
CAPAN-2kidney
chr5109220640109220640AGrs34709715N5.39237007615e-05ncRNALOC100289673
chr5111500816111500822CTAAAATCTAAAATAAAATD0.999638319016intronicEPB41L4A
HeLagallbladder
chr5111754851111754851CGrs3749742N0.00426573446020.2799525-UTREPB41L4A
NM_022140 HeLagallbladder
chr5115298232115298232GCrs9326980N2.63764232677e-100.7741615-UTRLVRN
NM_173800
chr5115339086115339086AGrs6594929N1.42616878307e-080.811701intronicLVRN
chr5115628120115628143CTTTTTTTTTTTTTGTCTTTGTAACTTTTTTTTTTTTGTCTTTGTAAD0.999148845673intronicCOMMD10
COMM domain containing 10U-937thyroid gland
chr5118690998118690998AGrs3813309N0.0008750478154980.75025-UTRTNFAIP8
NM_001286813 tumor necrosis factor, alpha-induced protein 8Karpas-707lymph node
chr5120021817120021819CCGACAN0.0134699996561nonframeshift substitutionPRR16
NM_016644
NM_001308087
NM_001308088
NM_001300783
3,2,4,2259,118,118,328 proline rich 16U-138-MGheart muscle
chr5120021817120021819CCGCCAN0.0134699996561nonframeshift substitutionPRR16
NM_016644
NM_001308087
NM_001308088
NM_001300783
3,2,4,2259,118,118,328 proline rich 16U-138-MGheart muscle
chr5122359502122359536AACACACACACACACACACACACACACACACCCCTAACACACACACACACACACACACACACACACACCCCTD0.928414762023-UTRPPIC
NM_000943 peptidylprolyl isomerase CAN3-CAurinary bladder
chr512953491295349AGrs2853669N0.01236398890610.297923upstreamTERT
PULMONARY FIBROSIS, TELOMERE-RELATED, 1telomerase reverse transcriptaseTIMElymph node
chr5131811777131811777ACrs2706382N1.58132784211e-120.90655downstreamC5orf56
chr5133186929133186929ACrs4593321N4.62318017203e-100.964457intergenic
chr5138271303138271303TCrs7713581N3.34709018314e-120.95008downstreamCTNNA1
catenin (cadherin associated protein), alpha 1CACO-2esophagus
chr5141339522141339522AGrs252110N4.21264644501e-070.926318upstreamPCDH12
protocadherin 12Karpas-707placenta
chr5141693389141693428AGGGGGGGGGGGCGGAGGGAGGGAGGGAGAAGGAGGGGCTAGGGGGGGGCGGAGGGAGGGAGGGAGAAGGAGGGGCTD0.6602450609213-UTRSPRY4
NM_001293289
NM_001293290
NM_001127496
NM_030964
sprouty homolog 4 (Drosophila)WM-115lung
chr5150696301150696335CAAAAAAAAAAAAAAAAAAAAAAAGAGATCCATATCAAAAAAAAAAAAAAAAAAAAAAAAAGAGATCCATATN0.0007731679361313-UTRSLC36A2
NM_181776 solute carrier family 36 (proton/amino acid symporter), member 2HDLM-2kidney
chr51538510515385105CTrs3849084N3.67100750839e-121intergenic
chr5169761621169761645CTTTTTTTTTTTCTTTTTAAATCTCCTTTTTTTTTTTTCTTTTTAAATCTCN0.0085302516818ncRNALINC01366
chr5169762142169762146GAACTGACCN0.00189291313291downstreamLINC01366
chr5170210090170210090AGrs7722089N1.27612365119e-090.725639upstreamGABRP
gamma-aminobutyric acid (GABA) A receptor, piEFO-21esophagus
chr5171760544171760546TAATTD0.9995842576033-UTRSH3PXD2B
NM_001017995 SH3 and PX domains 2BBEWOgallbladder
chr5172247400172247400ACrs793001N1.81986532201e-150.69369intergenic
chr5175731328175731328GCrs9763642N0.0006992032285780.402356intronicSIMC1
K-562ovary
chr5176056806176056806CTrs6879864N1.07095754487e-090.926318intronicSNCB
synuclein, betaSCLC-21Hcerebral cortex
chr5176086083176086083TCrs4868679N0.1342952400450.96845downstreamTSPAN17
HDLM-2bone marrow
chr5176086089176086089GCrs4868680N0.1224467381830.96845downstreamTSPAN17
HDLM-2bone marrow
chr5176513460176513460AGrs641101N1.97019033976e-070.698283upstreamFGFR4
fibroblast growth factor receptor 4RH-30lung
chr5179072567179072567CTrs11959704N1.57774067588e-070.707468upstreamC5orf60
SCLC-21Htestis
chr5179514055179514078CTTTTTTTTTTTTTTTTTACACAGCTTTTTTTTTTTTTTTTTTACACAGN0.000888057867996intergenic
chr5180076824180076824AGrs188655N1.08966514745e-060.961062upstreamFLT4
FMS-like tyrosine kinase 4HEK-293spleen
chr51914322719143235CCGCGCGCACCGCGCAN0.0113812265918intergenic
chr51914334119143341CGrs9292496N8.08984612632e-090.841054intergenic
chr527873792787383CTTCACTCAN0.020040018484intergenic
chr53783963337839633TCrs2973033N1.57796712301e-050.4053515-UTRGDNF
NM_000514 WM-115placenta
chr55452945854529458CGrs231623N0.1335633844140.6457675-UTRCCNO
NM_021147 cyclin OBEWOtestis
chr56478161764781617GCrs245537N1.40801026394e-090.611821intergenic
chr568681166868144ATGTGTGTGTGTGTGTGTGTGTGTGTGGCATGTGTGTGTGTGTGTGTGTGTGTGGCN0.00119325821288intergenic
chr57440051674400516GCrs56174528N7.62652052799e-050.133586DNnonsynonymous SNVANKRD31
NM_0011644432146971566T=>RAN3-CAtestis
chr57468552074685520AGrs3761743N4.18672925662e-070.388379intronicCOL4A3BP
collagen, type IV, alpha 3 (Goodpasture antigen) binding proteinWM-115thyroid gland
chr57492168674921686GArs9332464N0.0003970789257440.324681Nnonsynonymous SNVANKDD1B
NM_0012767135506169S=>Nankyrin repeat and death domain containing 1BRPMI-8226colon
chr57500819375008193TCrs2047059N0.002296002581720.299121intronicPOC5
POC5 centriolar protein homolog (Chlamydomonas)U-266/84testis
chr57995078179950781AGrs1650697N0.4866327941420.76857NNNDnonsynonymous SNVMSH3
NM_002439123579I=>VmutS homolog 3 (E. coli)RH-30kidney
chr58213581982135851TAAAAAAAAATCAAAAAAAAAAAAACAAGGAGTTAAAAAAAAATCCAAAAAAAAAAAAACAAGGAGTN0.0151489442214upstreamMIR3977
chr58472662384726623TCrs247681N5.4522655546e-070.615016intergenic
chr59501951995019519AGrs40098N4.16790641111e-070.568091upstreamSPATA9
spermatogenesis associated 9HELtestis
chr59608633496086334GCrs754615N9.23156112549e-050.29373NNNNnonsynonymous SNVCAST
NM_173060
NM_001042440
NM_001190442
17,18,191157,1349,1184386,450,395C=>S,C=>S,C=>ScalpastatinHaCaTesophagus
chr6100024561100024561ACrs330854N1.55620538678e-090.934305intergenic
chr61021406310214086CTTTTTTTTTTTTTTTTTACAGTCCTTTTTTTTTTTTTTACAGTCN0.0418422929943intergenic
chr6108279546108279546TGrs6903090N0.3088400363920.968051upstreamSEC63
SEC63-like (S. cerevisiae)Karpas-707salivary gland
chr6110797905110797905GCrs6922017N1.80167447184e-070.729633upstreamSLC22A16
solute carrier family 22 (organic cation transporter), member 16THP-1testis
chr6110797945110797954TCCCCCCAAGTCCCCCCCAAGN0.107334449887upstreamSLC22A16
solute carrier family 22 (organic cation transporter), member 16THP-1testis
chr6110797994110798001GGCGCGCTGGCGCTN0.28294596076upstreamSLC22A16
solute carrier family 22 (organic cation transporter), member 16THP-1testis
chr6110798019110798019GArs11153237N3.37982122289e-080.729233upstreamSLC22A16
solute carrier family 22 (organic cation transporter), member 16THP-1testis
chr6110884412110884412GArs2817790N1.90429815916e-070.795128intergenic
chr6114178831114178844CGCTGCTGCTGCTCCGCTGCTGCTGCTGCTCN0.3444519937045-UTRMARCKS
NM_002356 myristoylated alanine rich protein kinase C substrate
chr6114178831114178844CGCTGCTGCTGCTCTGCTGCTGCTGCTCN0.2582415044315-UTRMARCKS
NM_002356 myristoylated alanine rich protein kinase C substrate
chr6116572828116572828AGrs1204833N0.00200530583970.8787943-UTRTSPYL4
NM_021648 TSPY-like 4SCLC-21Hcerebral cortex
chr6119256348119256348TCrs62422269N0.4866327941420.602236upstreamMCM9
minichromosome maintenance complex component 9THP-1lymph node
chr6119256391119256391GArs62422270N0.3660312592980.602236upstreamMCM9
minichromosome maintenance complex component 9THP-1lymph node
chr6123103476123103476AGrs7752838N2.71528612927e-080.6427723-UTRFABP7
NM_001319039
NM_001319041
WM-115cerebral cortex
chr6129837680129837693AAATAATATTAAACAAATATTAAACN0.2304462194443-UTRLAMA2
NM_000426
NM_001079823
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENTlaminin, alpha 2U-138-MGplacenta
chr6131158670131158670CTrs955191N1.40074305932e-070.802516downstreamSMLR1
Hep-G2liver
chr61336454913364549TArs553948N2.13384591916e-050.4418933-UTRGFOD1
NM_001242630
NM_001242628
NM_018988
glucose-fructose oxidoreductase domain containing 1HMC-1bone marrow
chr6142468271142468271GTrs639658N0.4866327941420.263978upstreamNMBR
VTA1
chr6153324156153324156GArs3818130N0.01401811931280.767971upstreamMTRF1L
mitochondrial translational release factor 1-likeU-251-MGbone marrow
chr6159947024159947047GTTTTTTTTTTTTTTTTTACAACCGTTTTTTTTTTTTTTTACAACCN0.0564181283116intergenic
chr6159947024159947047GTTTTTTTTTTTTTTTTTACAACCGTTTTTTTTTTTTTTTTACAACCN0.0564181283116intergenic
chr6160180691160180693GCTGACTD0.501634120941intronicSOD2
superoxide dismutase 2, mitochondrialU-87-MGappendix
chr616055481605548GTrs188892640N2.51614684643e-090.00479233upstreamFOXCUT
chr6166657699166657699CTrs4710029N2.18057017755e-120.887979ncRNALOC101929297
chr6166796832166796832CGrs9295338N0.01348811946810.689896upstreamMPC1
NB-4heart muscle
chr6166796911166796911CTrs1546853N0.02887854911390.689896upstreamMPC1
NB-4heart muscle
chr6166799165166799165TCrs3757194N0.0001277504052270.689896intergenic
chr6167276041167276041AGrs4710127N3.57772783532e-280.854633upstreamRPS6KA2
ribosomal protein S6 kinase, polypeptide 2U-2197heart muscle
chr6167370211167370211ACrs2247315N0.2556989192960.549321upstreamRNASET2
THP-1spleen
chr6167370532167370532CGrs2757041N0.009708045981820.539936upstreamRNASET2
THP-1spleen
chr6168480713168480713CArs13192116N5.24951758507e-070.730032upstreamFRMD1
RPMI-8226colon
chr6169575068169575068TGrs117854773N2.4199620384e-050.480831downstreamLOC101929504
chr6170475495170475495AGrs3012401N2.43173320022e-130.894968upstreamLOC102724511
chr6170475812170475812TCrs2935054N6.56473321214e-060.881789upstreamLOC102724511
chr62444806124448061ACrs796985N5.45460261492e-060.563698intronicGPLD1
glycosylphosphatidylinositol specific phospholipase D1U-698liver
chr62577694925776949GArs11754288N0.0002501433191360.259984NNNNnonsynonymous SNVSLC17A4
NM_001286121
NM_005495
10,917,952,318,17,1114,372318,372A=>T,A=>Tsolute carrier family 17 (sodium phosphate), member 4A-549small intestine
chr62610407126104090GAAAAAAAAAAAAAACCGCGGAAAAAAAAAAAAAAACCGCGN0.486632794142upstreamHIST1H4C
histone cluster 1, H4cHEK-293bone marrow
chr62618410226184102GArs7766641N0.4866327941420.352835nonsynonymous SNVHIST1H2BE
NM_00352317927G=>S
chr62627171326271713ATrs9393690N0.4866327941420.611422upstreamHIST1H3G
chr62627282926272829TCrs9393691N0.04362320899960.478634upstreamHIST1H2BI
chr62632247326322473GArs9358924N0.1983453482390.376797intergenic
chr62650147126501477AGGGGACAGGGACD0.997916162014upstreamBTN1A1
butyrophilin, subfamily 1, member A1CACO-2lymph node
chr62650933026509330CGrs9393728N7.38368180464e-060.56889NNNNnonsynonymous SNVBTN1A1
NM_00173271509503D=>Ebutyrophilin, subfamily 1, member A1CACO-2lymph node
chr62652076726520767GCrs1535275N0.4866327941420.853834intergenic
chr62958101129581011TGrs29226N0.02064395137130.108826intronicGABBR1
gamma-aminobutyric acid (GABA) B receptor, 1TIMEcerebral cortex
chr62958111029581113ACCAGCCGN0.00115215114783nonframeshift substitutionGABBR1
NM_021904
NM_001470
NM_021903
11,12,71287,1473,1122 gamma-aminobutyric acid (GABA) B receptor, 1TIMEcerebral cortex
chr62964899129648994ATGTATGTGTN0.100417539477intergenic
chr629715662971566GTrs9405600N0.01773677952590.2328275-UTRSERPINB6
NM_001297699 U-2197small intestine
chr62971832929718346ATTTTTTTTTTTTTAACCATTTTTTTTTTTAACCN0.0125827267766downstreamIFITM4P
chr62971835529718355ACrs909729N7.56501435717e-070.605431downstreamIFITM4P
chr62971838329718383GArs1610733N3.00456213154e-050.605431downstreamIFITM4P
chr62971840129718401CGrs1610734N1.86446159205e-050.605032downstreamIFITM4P
chr62971854429718544CTrs1610736N8.97931556665e-070.606629downstreamIFITM4P
chr62972048029720480TCrs909723N1.6586331185e-050.870008intergenic
chr62972060429720604AGrs1610623N2.78933566733e-060.870008intergenic
chr62973092329730923CArs1737068N1.44821878933e-080.869409intergenic
chr62979465829794658GArs1632947N0.4866327941420.543131upstreamHLA-G
SiHaplacenta
chr62979623429796238CAAGGCAGGN0.0973427668214intronicHLA-G
SiHaplacenta
chr62979625729796257CTrs1625035N3.97184294343e-060.598243intronicHLA-G
SiHaplacenta
chr62979630629796306GArs1624337N0.0007543230312880.543131intronicHLA-G
SiHaplacenta
chr62979842529798425GTrs915669N2.96636899293e-050.598043intronicHLA-G
SiHaplacenta
chr62979845929798459CGrs915668N0.0001450532727180.598043intronicHLA-G
SiHaplacenta
chr62979858129798583GTCGATTTGTTCATGCCTTCD0.9289547204973-UTRHLA-G
NM_002127 SiHaplacenta
chr62979861029798610CTrs1707N7.04170497556e-060.906553-UTRHLA-G
NM_002127 SiHaplacenta
chr62979861729798617GCrs1710N0.0004457632312550.5978433-UTRHLA-G
NM_002127 SiHaplacenta
chr62979974629799746CGrs2517898N9.32221664698e-050.40635downstreamHLA-G
SiHaplacenta
chr62985456929854569CTrs2734950N1.65648498296e-060.378594upstreamHLA-H
chr62985462829854628TCrs9259202N1.10834272316e-100.797724upstreamHLA-H
chr62985750229857504ACGCCAN0.333522170782ncRNAHLA-H
chr62989304029893040CTrs1610751N5.53875738676e-130.912141ncRNAHCG4B
chr62989319529893195AGrs1056241N1.0327394051e-080.550319ncRNAHCG4B
chr62989329329893293GArs1056242N0.0002955640375150.538139ncRNAHCG4B
chr62989552929895529CTrs2517761N7.12411392101e-080.795727upstreamHCG4B
chr62989568229895682AGrs1632904N2.33569281249e-070.795527upstreamHCG4B
chr62989569729895697TCrs2471866N3.280803503e-050.523363upstreamHCG4B
chr62989581629895816ATrs2517760N2.67816027133e-080.795927upstreamHCG4B
chr62989583029895833CTCTACCCN0.0144581357017upstreamHCG4B
chr62989583029895833CTCTCCCCN0.0144581357017upstreamHCG4B
chr62989583829895840CAGCCAAGN0.313219249249upstreamHCG4B
chr62989583829895840CAGCCGGCAAGN0.313219249249upstreamHCG4B
chr62989737929897379GCrs2517747N0.005549930501730.54992intergenic
chr62991055829910562TCACAACACCN1.17218642117e-05nonframeshift substitutionHLA-A
NM_001242758
NM_002116
2,298,98 SK-MEL-30spleen
chr62991122829911228ACrs9256983N7.83994721587e-070.189497NNNNnonsynonymous SNVHLA-A
NM_001242758
NM_002116
3,3527,527176,176E=>A,E=>ASK-MEL-30spleen
chr62991354229913542TGrs2499N0.0001714102982080.9257193-UTRHLA-A
NM_001242758
NM_002116
SK-MEL-30spleen
chr62991372729913727TCrs2571382N1.55542650759e-070.870208downstreamHLA-A
SK-MEL-30spleen
chr62991373429913734CTrs2975051N0.006711074616760.297524downstreamHLA-A
SK-MEL-30spleen
chr62992637929926379TCrs2975039N0.04265259578820.151957intergenic
chr62994048829940488TCrs5009448N4.73106047139e-060.732628intergenic
chr63013154630131546AGrs17194460N8.43782627726e-150.238618NNNNnonsynonymous SNVTRIM15
NM_03322918529I=>Vtripartite motif-containing 15HELduodenum
chr63088251330882513AGrs1264303N0.02354571782050.222045intronicVARS2
valyl-tRNA synthetase 2, mitochondrial (putative)Hep-G2cerebral cortex
chr63088392030883920CTrs1264299N1.09898373921e-050.222045intronicVARS2
valyl-tRNA synthetase 2, mitochondrial (putative)Hep-G2cerebral cortex
chr63088734430887344TCrs7738138N0.00195187132340.222644intronicVARS2
valyl-tRNA synthetase 2, mitochondrial (putative)Hep-G2cerebral cortex
chr63089048330890483GTrs2074506N2.61278510152e-050.222045NPNNnonsynonymous SNVVARS2
NM_020442
NM_001167733
NM_001167734
22,21,222038,1618,2128680,540,710V=>L,V=>L,V=>Lvalyl-tRNA synthetase 2, mitochondrial (putative)Hep-G2cerebral cortex
chr63089087130890871TCrs753725N3.12101547024e-050.615815intronicVARS2
valyl-tRNA synthetase 2, mitochondrial (putative)Hep-G2cerebral cortex
chr63091840030918400AGrs2844699N1.06518882603e-080.221845NNNnonsynonymous SNVDPCR1
NM_08087022159720E=>Gdiffuse panbronchiolitis critical region 1 (human)NTERA-2stomach
chr63092089030920890GArs2240804N1.13451360448e-050.18151NNNnonsynonymous SNVDPCR1
NM_080870341781393R=>Qdiffuse panbronchiolitis critical region 1 (human)NTERA-2stomach
chr63095424530954245TCrs1634730N9.39663724608e-090.710663NNNNnonsynonymous SNVMUC21
NM_001010909229398V=>AKarpas-707esophagus
chr63095487330954873GArs1625781N2.90853822662e-050.141174synonymous SNVMUC21
NM_0010109092921,307307T=>TKarpas-707esophagus
chr63099381330993813GArs62399429N2.12854520214e-050.103035NNnonsynonymous SNVMUC22
NM_0011988153605202S=>NA-431esophagus
chr63099386630993866ATrs62399430N3.41483755619e-050.0974441NNnonsynonymous SNVMUC22
NM_0011988153658220T=>SA-431esophagus
chr63099388030993880GCrs62399431N1.4403834939e-050.100639DNnonsynonymous SNVMUC22
NM_0011988153672224E=>DA-431esophagus
chr63099517830995178CTrs111413526N1.81178929779e-050.0920527DNnonsynonymous SNVMUC22
NM_00119881531970657T=>IA-431esophagus
chr63099518730995187TCrs62399443N4.15837675973e-050.0920527NNnonsynonymous SNVMUC22
NM_00119881531979660I=>TA-431esophagus
chr63099529730995297AGrs62401664N1.10492019303e-050.0920527NNnonsynonymous SNVMUC22
NM_00119881532089697I=>VA-431esophagus
chr63099553230995532TCrs62401665N0.0002459916286170.0920527NNnonsynonymous SNVMUC22
NM_00119881532324775M=>TA-431esophagus
chr63099613230996132CTrs12665700N3.79561570298e-050.0922524DNnonsynonymous SNVMUC22
NM_00119881532924975T=>IA-431esophagus
chr63099650930996509GArs35464561N1.17327463158e-050.0908546NNnonsynonymous SNVMUC22
NM_001198815333011101E=>KA-431esophagus
chr63099707830997079TGCAN0.00014533031208nonframeshift substitutionMUC22
NM_00119881533870 A-431esophagus
chr63099707830997079TGCGN0.00014533031208nonframeshift substitutionMUC22
NM_00119881533870 A-431esophagus
chr63099733430997334AGrs11756038N3.73429284082e-050.091254NNnonsynonymous SNVMUC22
NM_00119881534126,13761376T=>AA-431esophagus
chr63099735230997352AGrs11756039N3.68313776562e-050.102436NNnonsynonymous SNVMUC22
NM_001198815341441382S=>GA-431esophagus
chr63099999730999997TCrs10947121N4.26226665073e-100.453075NNnonsynonymous SNVMUC22
NM_001198815446941565L=>PA-431esophagus
chr63108047131080471TCrs1265052N8.0930523394e-100.548522upstreamC6orf15
RH-30skin
chr63111327531113276AGGAN0.0247329194099intronicCCHCR1
coiled-coil alpha-helical rod protein 1REHtestis
chr63111624631116246GArs130068N4.41542351837e-060.409944NNNNnonsynonymous SNVCCHCR1
NM_001105564
NM_001105563
NM_019052
10,10,101516,1408,1249506,470,417R=>W,R=>W,R=>Wcoiled-coil alpha-helical rod protein 1REHtestis
chr63112506731125072CAACTACAACTAACTAN0.254279106855intronicCCHCR1
coiled-coil alpha-helical rod protein 1REHtestis
chr63112961631129616AGrs2073721N6.53752330049e-100.769169NNNNnonsynonymous SNVTCF19
NM_007109
NM_001077511
3,3631,631211,211M=>V,M=>Vtranscription factor 19U-138-MGlymph node
chr63113050231130502TCrs1065461N4.02589239723e-100.7691693-UTRTCF19
NM_001318908
NM_001077511
NM_007109
transcription factor 19U-138-MGlymph node
chr63113472131134725ACTCAACTCCTCAN0.2381506413225-UTRPOU5F1
NM_203289
NM_001285986
NM_001173531
NM_001285987
NTERA-2small intestine
chr63113488831134888TCrs3130931N2.70495803534e-080.7236425-UTRPOU5F1
NM_203289
NM_001285986
NM_001173531
NM_001285987
NTERA-2small intestine
chr63116556631165566TCrs3094609N0.4866327941420.895367ncRNAHCG27
Karpas-707spleen
chr63117022731170228AGACN1.1164956959e-08ncRNAHCG27
Karpas-707spleen
chr63117022731170228AGGCN1.1164956959e-08ncRNAHCG27
Karpas-707spleen
chr63117071331170713TCrs9263873N0.02505553700030.467452ncRNAHCG27
Karpas-707spleen
chr63123671531236723GCCCCACCTGCCCACTTD0.9302144646643-UTRHLA-C
NM_001243042
NM_002117
HDLM-2lung
chr63123798731237991CCCAGCCCATN0.00385118694976nonframeshift substitutionHLA-C
NM_002117
NM_001243042
4,4891,891 HDLM-2lung
chr63123798731237991CCCAGTCCATN0.00385118694976nonframeshift substitutionHLA-C
NM_002117
NM_001243042
4,4891,891 HDLM-2lung
chr63123802731238029CATAACN0.00818398781121nonframeshift substitutionHLA-C
NM_002117
NM_001243042
4,4853,853 HDLM-2lung
chr63123802731238029CATCACN0.00818398781121nonframeshift substitutionHLA-C
NM_002117
NM_001243042
4,4853,853 HDLM-2lung
chr63123805331238053GCrs707908N6.93671381669e-07NNNNnonsynonymous SNVHLA-C
NM_002117
NM_001243042
4,4829,829277,277Q=>E,Q=>EHDLM-2lung
chr63123894231238942GTrs2308590N6.80762314005e-050.429113NNNNnonsynonymous SNVHLA-C
NM_002117
NM_001243042
3,3527,527176,176A=>E,A=>EHDLM-2lung
chr63123904931239050GGGAN0.0899172201753nonframeshift substitutionHLA-C
NM_002117
NM_001243042
3,3419,419 HDLM-2lung
chr63123904931239050GGTAN0.0899172201753nonframeshift substitutionHLA-C
NM_002117
NM_001243042
3,3419,419 HDLM-2lung
chr63123961631239622CGGTGTCATGTGGAN0.000803456758149nonframeshift substitutionHLA-C
NM_002117
NM_001243042
2,297,97 HDLM-2lung
chr63123961631239622CGGTGTCCGGTGTAN0.000803456758149nonframeshift substitutionHLA-C
NM_002117
NM_001243042
2,297,97 HDLM-2lung
chr63123982731239827CTrs2308525N0.001962878508490.753195NNNNnonsynonymous SNVHLA-C
NM_002117
NM_001243042
1,122,8,22,88,8A=>T,A=>THDLM-2lung
chr63124001031240014GAGAAGAGAAGAAN0.228147894144upstreamHLA-C
HDLM-2lung
chr63124006031240060AGrs2844622N0.01304299850020.753594upstreamHLA-C
HDLM-2lung
chr63125448531254485TCrs58860177N0.01196140795950.0764776intergenic
chr63127644731276447GCrs1005599N4.87518933643e-130.898363intergenic
chr63132136031321360AGrs2844585N2.96474809147e-070.902756downstreamHLA-B
U-266/70spleen
chr63132202631322026CArs1054111N8.77538550412e-050.2703673-UTRHLA-B
NM_005514 U-266/70spleen
chr63132230331322303CGrs2308655N1.39594293156e-120.592252NNNNexonicHLA-B
U-266/70spleen
chr63132340931323409TCrs2523605N2.20964782881e-190.872604intronicHLA-B
U-266/70spleen
chr63132346831323468GTrs3897530N6.31424871157e-130.288738intronicHLA-B
U-266/70spleen
chr63132376631323766TCrs2523604N9.37971034176e-100.872204intronicHLA-B
U-266/70spleen
chr63132377631323778TCTTCCTN0.0151729155332intronicHLA-B
U-266/70spleen
chr63132395331323953CGrs1131285N1.34345455649e-070.810903NNNNexonicHLA-B
U-266/70spleen
chr63132395831323960TTGGTCN0.00847094506025exonicHLA-B
U-266/70spleen
chr63132400331324004TCAGN1.12905276239e-07exonicHLA-B
U-266/70spleen
chr63132400331324004TCGTN1.12905276239e-07exonicHLA-B
U-266/70spleen
chr63132420031324201GCCCN0.00351198413409exonicHLA-B
U-266/70spleen
chr63132420031324201GCCGN0.00351198413409exonicHLA-B
U-266/70spleen
chr63132420631324209GAGGCCAAN0.00137298193295exonicHLA-B
U-266/70spleen
chr63132420631324209GAGGGATGN0.00137298193295exonicHLA-B
U-266/70spleen
chr63132424331324245CCAACCN0.000265091250185intronicHLA-B
U-266/70spleen
chr63132424331324245CCACCCN0.000265091250185intronicHLA-B
U-266/70spleen
chr63132451631324516CArs1131215N4.48589817097e-050.703874NDDNexonicHLA-B
U-266/70spleen
chr63132460231324604TCTGTCN0.0909385681152exonicHLA-B
U-266/70spleen
chr63132466631324667AGCAN2.48757532972e-05exonicHLA-B
U-266/70spleen
chr63132466631324667AGCGN2.48757532972e-05exonicHLA-B
U-266/70spleen
chr63132470231324705CGGATGGCN1.70814136169e-08exonicHLA-B
U-266/70spleen
chr63132482931324830GGCAN0.486632794142intronicHLA-B
U-266/70spleen
chr63132485131324857ACCCGCAACCCCGCAN0.486632794142intronicHLA-B
U-266/70spleen
chr63132488731324895GGGCCGCCGCTGCCCCCCN0.486632794142exonicHLA-B
U-266/70spleen
chr63132492531324925AGrs1050458N0.08592441678050.792332NNNNexonicHLA-B
U-266/70spleen
chr63132493131324931ACrs9266206N0.03422762081030.79393NNNNexonicHLA-B
U-266/70spleen
chr63132495331324953CTrs9266207N0.03066645376380.7669735-UTRHLA-B
NM_005514 U-266/70spleen
chr63132499631324996GCrs2596490N0.0875385105610.7599845-UTRHLA-B
NM_005514 U-266/70spleen
chr63132500431325004GArs9266209N0.2355298250910.6645375-UTRHLA-B
NM_005514 U-266/70spleen
chr63132502831325030AATGACN0.486632794142upstreamHLA-B
U-266/70spleen
chr63132504931325049GArs9266214N0.1736537367110.768171upstreamHLA-B
U-266/70spleen
chr63132509031325092CAATAGN0.486632794142upstreamHLA-B
U-266/70spleen
chr63132511531325116AGGTN0.263868689537upstreamHLA-B
U-266/70spleen
chr63132515131325151TArs9266221N0.01150428224350.6248upstreamHLA-B
U-266/70spleen
chr63132519331325193TCrs9266225N4.08079031331e-050.47524upstreamHLA-B
U-266/70spleen
chr63132519931325199AGrs9266226N8.54795143823e-060.47524upstreamHLA-B
U-266/70spleen
chr63132523531325239CAAGCCAGCN0.000429247767897upstreamHLA-B
U-266/70spleen
chr63132527031325270GCrs9266227N9.9231609596e-090.691294upstreamHLA-B
U-266/70spleen
chr63132532031325323GCCCCCCGN2.25262596132e-07upstreamHLA-B
U-266/70spleen
chr63132534131325341GCrs9266230N2.69308531031e-090.80012upstreamHLA-B
U-266/70spleen
chr63132538031325380CTrs9266231N3.7211226752e-160.800719upstreamHLA-B
U-266/70spleen
chr63132540331325405ACTATN2.31521268823e-09upstreamHLA-B
U-266/70spleen
chr63132542431325424GTrs9266232N2.93037202326e-170.800719upstreamHLA-B
U-266/70spleen
chr63132608231326083TCCTN7.25711359428e-17intergenic
chr63132613131326131CTrs73390208N1.87676666607e-160.44988intergenic
chr63134206131342066CGGTTCTGGTCTN0.0891419127584intergenic
chr63134619331346193GArs2507982N4.01571553788e-100.891174intergenic
chr63134624731346247TArs2507981N5.36014461983e-120.557708intergenic
chr63134972031349720CTrs9266715N1.77710832161e-110.772364intergenic
chr63134972731349727CTrs9266716N5.83887382888e-110.772165intergenic
chr63134974331349743AGrs9266717N2.92239392408e-110.75intergenic
chr63134978831349788CTrs9266718N1.88239468457e-090.75intergenic
chr63134980531349809CGGCAAGGCGN0.000134609988891intergenic
chr63134981931349819CArs9266721N2.91516499829e-090.574681intergenic
chr63135009031350090CTrs2596569N1.13452129635e-120.785543intergenic
chr63135023231350232AGrs2596568N9.8194848086e-110.785343intergenic
chr63135032831350328AGrs2507979N2.53002108153e-090.785543intergenic
chr63138016131380163GGCGCTGCD0.878867208958frameshift substitutionMICA
NM_001177519
NM_001289152
NM_001289153
NM_001289154
5,5,5,5952,661,661,538 U-251-MGlung
chr63138016131380163GGCGCTGCTGCTGCTGCD0.878867208958frameshift substitutionMICA
NM_001177519
NM_001289152
NM_001289153
NM_001289154
5,5,5,5952,661,661,538 U-251-MGlung
chr63144041531440415GArs2516441N1.94431595446e-050.335663downstreamHCG26
chr63146591531465917GGGCGTN0.4566485583785-UTRMICB
NM_001289161
NM_005931
U-266/84lymph node
chr63147384431473844TCrs2286713N2.88602223009e-060.851238intronicMICB
U-266/84lymph node
chr63148375231483752AGrs3131632N2.26507215761e-100.829673intergenic
chr63148403231484032TCrs3094001N1.48953416268e-090.878195intergenic
chr63148405431484054TCrs3094000N1.21570375988e-090.829473intergenic
chr63148814531488145AGrs3130637N8.17546641496e-100.814297intergenic
chr63149552331495525AATAAAAGGCATN0.124987080693intergenic
chr63149677631496776TGrs3130054N2.05958561317e-090.8839865-UTRMCCD1
NM_001011700 Daudikidney
chr63149691531496915GArs2259435N1.10784547758e-070.170927NNNNnonsynonymous SNVMCCD1
NM_001011700112442E=>KDaudikidney
chr63149692531496925GArs3093983N1.62344757863e-120.878794NNNNnonsynonymous SNVMCCD1
NM_001011700113445S=>NDaudikidney
chr63149783531497835GCrs3115537N5.86348069191e-050.8789943-UTRMCCD1
NM_001011700 Daudikidney
chr63150286131502861AGrs3093976N4.81625420434e-060.879193ncRNAATP6V1G2-DDX39B
chr63150876131508761CTrs2523508N0.001736035803330.878594ncRNAATP6V1G2-DDX39B
chr63151010531510105AGrs2239528N0.4866327941420.785343ncRNADDX39B-AS1
chr63154014131540141ACrs2239704N3.70614761103e-090.6495615-UTRLTA
NM_000595 lymphotoxin AHDLM-2lymph node
chr63154048131540507GTCTCTCTCTCTCTCTCTCTTTCTCTGGTCTCTCTCTCTCTCTCTCTCTTTCTCTGD0.747808516026intronicLTA
lymphotoxin AHDLM-2lymph node
chr63154230831542308TCrs1799964N0.1537014693020.21905downstreamLTA
lymphotoxin AHDLM-2lymph node
chr63155658131556581TArs1052248N1.04835301329e-070.3017173-UTRLST1
NM_205838
NM_205839
NM_205837
NM_001166538
NM_007161
NM_205840
leukocyte specific transcript 1THP-1bone marrow
chr63158382731583827TGrs2259571N0.0003395513049330.3542335-UTRAIF1
NM_032955 allograft inflammatory factor 1NB-4spleen
chr63159588231595882CArs1046080N9.99556340475e-110.815495NNNNnonsynonymous SNVPRRC2A
NM_080686
NM_004638
12,122,1631,2,1631544,544T=>K,T=>Kproline-rich coiled-coil 2ANB-4testis
chr63162873331628733CTrs805262N0.01834495924410.382388upstream,downstreamC6orf47;GPANK1
chr63163773431637734ATrs5872N0.001587592414580.2490023-UTRCSNK2B
NM_001282385
NM_001320
casein kinase 2, beta polypeptideNB-4skin
chr63174528431745284CTrs2736426N0.002617598744110.635383upstream,downstreamVWA7;VARS
chr63176284331762844GGCTN0.00325003755279nonframeshift substitutionVARS
NM_0062952151 valyl-tRNA synthetaseKarpas-707testis
chr63177794631777946CTrs2075800N5.59397376492e-050.255192DDPNnonsynonymous SNVHSPA1L
NM_00552721804602E=>Kheat shock protein 1-likeHEK-293testis
chr63183930931839309CTrs2242665N0.4866327941420.618411NNNNnonsynonymous SNVSLC44A4
NM_001178045
NM_001178044
NM_025257
8,7,844,331,44,433,44,559111,145,187V=>I,V=>I,V=>Isolute carrier family 44, member 4CAPAN-2stomach
chr63186114131861141ATrs2844457N9.21915707295e-050.3290735-UTREHMT2
NM_001318833 euchromatic histone lysine N-methyltransferase 2NB-4ovary
chr63186454731864547GTrs7887N0.0002395874907960.329073NNNNnonsynonymous SNVEHMT2
NM_025256
NM_006709
NM_001289413
3,3,2164,164,33555,55,112T=>N,T=>N,T=>Neuchromatic histone lysine N-methyltransferase 2NB-4ovary
chr63190498331905003CAAAAAAAAAAAAAAAATTGCCAAAAAAAAAAAAAAATTGCN0.0239724311978ncRNAC2-AS1
chr63192901431929014ACrs437179N2.05880503756e-080.816693NNNNnonsynonymous SNVSKIV2L
NM_0069298640214M=>Lsuperkiller viralicidic activity 2-like (S. cerevisiae)HeLaspleen
chr63200659732006597CTrs6462N1.19855144476e-060.711462intronicCYP21A2
HDLM-2adrenal gland
chr63202610732026107CTrs1009382N3.03148999592e-060.696086NNNNnonsynonymous SNVTNXB
NM_0191052275532518G=>Etenascin XBU-2197adrenal gland
chr63205006732050067TCrs185819N7.73961588152e-080.586262NNNNnonsynonymous SNVTNXB
NM_019105934821161H=>Rtenascin XBU-2197adrenal gland
chr63222270632222706AGrs3115570N4.8317181367e-090.470048upstreamLOC101929163
chr63242757232427572CGrs9268830N0.01352778263390.253794intergenic
chr63248967132489672ACGAN7.7588178101e-05intronicHLA-DRB5
HDLM-2lung
chr63248973432489735GGATN0.00527250906453nonframeshift substitutionHLA-DRB5
NM_0021252317 HDLM-2lung
chr63248974432489744GTrs1059598N1.63387194334e-05NNNNnonsynonymous SNVHLA-DRB5
NM_0021252308103A=>EHDLM-2lung
chr63248976632489766AGrs41562819N5.6641312085e-08NNNNnonsynonymous SNVHLA-DRB5
NM_002125228696F=>LHDLM-2lung
chr63248981332489813GCrs79606458N0.00717746652663DDDNnonsynonymous SNVHLA-DRB5
NM_002125223980T=>RHDLM-2lung
chr63248993332489940TCCTGCTGAGCAGCTCN4.06193521485e-06nonframeshift substitutionHLA-DRB5
NM_0021252112 HDLM-2lung
chr63249796032497962CTTAACN0.411585688591nonframeshift substitutionHLA-DRB5
NM_002125140 HDLM-2lung
chr63254662632546626CGrs1064715N0.4866327941423-UTRHLA-DRB1
NM_001243965
NM_002124
HDLM-2lung
chr63254674332546743CTrs1064707N0.1229195520280.7040733-UTRHLA-DRB1
NM_001243965
NM_002124
HDLM-2lung
chr63254684932546855GAATGTGAAATTN0.002563437214123-UTRHLA-DRB1
NM_001243965
NM_002124
HDLM-2lung
chr63254960732549611TAGGTGAGGAN0.0060053546913nonframeshift substitutionHLA-DRB1
NM_0021243375 HDLM-2lung
chr63254960732549611TAGGTTAGGAN0.0060053546913nonframeshift substitutionHLA-DRB1
NM_0021243375 HDLM-2lung
chr63255199132551999ACTCAGCGTACTCGGCATN3.76722482542e-06nonframeshift substitutionHLA-DRB1
NM_0021242257 HDLM-2lung
chr63255199132551999ACTCAGCGTGCTCCGCAGN3.76722482542e-06nonframeshift substitutionHLA-DRB1
NM_0021242257 HDLM-2lung
chr63255205632552059ACGGACGAN2.12985531989e-11nonframeshift substitutionHLA-DRB1
NM_0021242197 HDLM-2lung
chr63255205632552059ACGGGCGTN2.12985531989e-11nonframeshift substitutionHLA-DRB1
NM_0021242197 HDLM-2lung
chr63255207532552075AGrs1064664N1.35379378606e-130.309505NNNNnonsynonymous SNVHLA-DRB1
NM_002124218161Y=>HHDLM-2lung
chr63255755232557552ACrs1059546N0.4355806112290.4021575-UTRHLA-DRB1
NM_001243965
NM_002124
HDLM-2lung
chr63255755232557552AGrs1059546N0.4866327941420.2945295-UTRHLA-DRB1
NM_001243965
NM_002124
HDLM-2lung
chr63270920432709204GCrs9276401N1.22317516116e-080.174925-UTRHLA-DQA2
NM_020056 HDLM-2lymph node
chr63271318832713188CTrs2213565N1.10326119795e-070.852436intronicHLA-DQA2
HDLM-2lymph node
chr63278177632781776CArs2856997N6.91059369728e-080.506789intronicHLA-DOB
Daudilymph node
chr63278475332784753TCrs2071470N1.50966548355e-300.3089065-UTRHLA-DOB
NM_002120 Daudilymph node
chr63279652132796521CTrs17034N4.94654086651e-050.2977243-UTRTAP2
NM_000544
NM_001290043
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)HELlymph node
chr63279716832797168GArs241442N6.92783578415e-050.291534intronicTAP2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)HELlymph node
chr63279787632797876AGrs241436N1.23426787013e-070.434305intronicTAP2
transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)HELlymph node
chr63290498132904981GArs1042337N2.45308894725e-120.784545NNNNnonsynonymous SNVHLA-DMB
NM_0021183590197T=>IHDLM-2lymph node
chr63294860732948607CTrs1049414N2.01457588389e-080.6849043-UTRBRD2
NM_005104
NM_001113182
NM_001291986
NM_001199455
NM_001199456
bromodomain containing 2HEK-293bone marrow
chr63303628733036288GGAAN0.0120911998674intronicHLA-DPA1
HDLM-2lymph node
chr63303631233036312AGrs72879609N0.0001446254173060.438898intronicHLA-DPA1
HDLM-2lymph node
chr63303639933036401CTCCTTTD0.980794966221intronicHLA-DPA1
HDLM-2lymph node
chr63303695033036951CACGD0.955665290356nonframeshift substitutionHLA-DPA1
NM_033554
NM_001242524
NM_001242525
3,4,4473,473,473 HDLM-2lymph node
chr63303695033036951CATGD0.955665290356nonframeshift substitutionHLA-DPA1
NM_033554
NM_001242524
NM_001242525
3,4,4473,473,473 HDLM-2lymph node
chr63303708033037082GGAAGGN0.0410279072821intronicHLA-DPA1
HDLM-2lymph node
chr63303741233037413GCCAN0.486632794142intronicHLA-DPA1
HDLM-2lymph node
chr63303742433037424TCrs1126542N0.02481235377490.439097NNNNnonsynonymous SNVHLA-DPA1
NM_033554
NM_001242524
NM_001242525
2,3,3340,114,340,114,340,114114,114,114T=>A,T=>A,T=>AHDLM-2lymph node
chr63303757933037580ATTGN0.407891154289nonframeshift substitutionHLA-DPA1
NM_033554
NM_001242524
NM_001242525
2,3,3184,184,184 HDLM-2lymph node
chr63304845733048461CTTTTGTGTAN0.000498974637594nonframeshift substitutionHLA-DPB1
NM_0021212109 HDLM-2lymph node
chr63304866133048663ATGGTAN0.000387588632293nonframeshift substitutionHLA-DPB1
NM_0021212313 HDLM-2lymph node
chr63304868633048694GCGGGCCCAACGAGGCCGN0.486632794142nonframeshift substitutionHLA-DPB1
NM_0021212338 HDLM-2lymph node
chr63305271733052723ACGCTCCCCACTCGN0.00569336861372intronicHLA-DPB1
HDLM-2lymph node
chr63305273633052736GArs1126537N7.23011817172e-06NNNNnonsynonymous SNVHLA-DPB1
NM_0021213374125R=>KHDLM-2lymph node
chr63305432533054325GCrs1126719N0.0002877997176260.3680113-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305433133054331TCrs1126723N0.0388868600133-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305434233054342TArs1042448N0.0003943857154810.3640183-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305435333054355GAAAACN0.007576990406963-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305437333054373CTrs1042467N2.50294069701e-050.362623-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305437833054381GCATACACN0.007037512958053-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305437833054381GCATGCACN0.007037512958053-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305438633054386CTrs1042497N3.23442291119e-050.3602243-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305440033054404TTCAACTCAGN0.01293813250963-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305441033054414AAATTCAAGAN0.03036780282863-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305445733054457AGrs1042544N2.39802029682e-050.462663-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63305504733055047AGrs9277538N6.65887057494e-070.4600643-UTRHLA-DPB1
NM_002121 HDLM-2lymph node
chr63317290533172905TCrs365339N0.01291089784350.878395intronicHSD17B8
U-266/70liver
chr63325455633254563CCCACCAGCGCCACCAGD0.941022098064intronicWDR46
WD repeat domain 46U-266/84lymph node
chr63325698433256984CTrs463260N0.4866327941420.5852645-UTRWDR46
NM_001164267
NM_005452
WD repeat domain 46U-266/84lymph node
chr63327271233272712CArs2071889N0.0001031989086190.48722intronicTAPBP
TAP binding proteinKarpas-707spleen
chr63327285533272855GCrs2071888N7.74284217187e-060.591254NPNNnonsynonymous SNVTAPBP
NM_172208
NM_172209
NM_003190
4,3,4779,518,779260,173,260T=>R,T=>R,T=>RTAP binding proteinKarpas-707spleen
chr63328376633283766TCrs3130100N8.16369208678e-070.534345NNNNnonsynonymous SNVZBTB22
NM_005453
NM_001145338
2,2928,310,928,310310,310T=>A,T=>AMCF-7ovary
chr63328638833286407CTTTTTTTTTTTTTTAAAGACTTTTTTTTTTTTTTTAAAGAN0.1131906360393-UTRDAXX
NM_001141969
NM_001141970
NM_001254717
NM_001350
Fas death domain-associated proteinHELlymph node
chr63329054733290547TArs2073524N0.005425337702040.526757intronicDAXX
Fas death domain-associated proteinHELlymph node
chr63329082533290825AGrs2073525N0.4866327941420.592452upstreamDAXX
Fas death domain-associated proteinHELlymph node
chr63330740033307402TATTGATN0.00876371562481intergenic
chr63364632833646328TCrs2274195N1.94532702835e-070.769169intronicITPR3
inositol 1,4,5-triphosphate receptor 3HeLaskin
chr63364765133647651AGrs4713654N0.402362376451intronicITPR3
inositol 1,4,5-triphosphate receptor 3HeLaskin
chr63364822833648228CTrs2229638N2.7870254371e-070.913738intronicITPR3(NM_002224:exon32:c.4345+2C>T)
chr63367959633679596ACrs2274458N0.4866327941420.53135upstreamUQCC2
THP-1heart muscle
chr63369079633690797CATGN0.000540353183169nonframeshift substitutionIP6K3
NM_054111
NM_001142883
6,7933,933 inositol hexaphosphate kinase 3RH-30thyroid gland
chr63386499833864998GArs3800341N4.62641338572e-080.707668upstreamLINC01016
chr63386789733867900ACCGGCCAN0.00059123930987downstreamMIR7159
chr63472547834725478GArs7743724N0.09871213883160.14397intronicSNRPC
U-937heart muscle
chr63472565834725658GTrs28398813N0.137333005667DintronicSNRPC
U-937heart muscle
chr63473565234735677CTTTTTTTTTTTTTTTTTCCTCACCCCTTTTTTTTTTTTTTTTCCTCACCCN0.466496288776intronicSNRPC
U-937heart muscle
chr63475988134759884AAAGGAACN0.242664098745-UTRUHRF1BP1
NM_017754 UHRF1 (ICBP90) binding protein 1K-562testis
chr63482463634824636AGrs11755393N0.003536744741720.467652NNNNnonsynonymous SNVUHRF1BP1
NM_017754111361454Q=>RUHRF1 (ICBP90) binding protein 1K-562testis
chr63482692134826921GCrs61732793N7.0438880357e-050.0253594NNNNnonsynonymous SNVUHRF1BP1
NM_017754142788930E=>QUHRF1 (ICBP90) binding protein 1K-562testis
chr63483185634831856TCrs13205210N0.01524355262520.14377DPNNnonsynonymous SNVUHRF1BP1
NM_0177541532931098M=>TUHRF1 (ICBP90) binding protein 1K-562testis
chr63484039834840398GArs3734261N0.3124433159830.1180113-UTRUHRF1BP1
NM_017754 UHRF1 (ICBP90) binding protein 1K-562testis
chr63485574834855748GCrs1051115N0.1941503882410.1555515-UTRTAF11
NM_001270488
NM_005643
U-266/84testis
chr63525853935258539CArs763157N1.73004500539e-050.921126intronicZNF76
SCLC-21Hthyroid gland
chr63547957435479574GCrs7764472N2.75655281712e-070.874401NNNNnonsynonymous SNVTULP1
NM_003322420067T=>RRETINITIS PIGMENTOSA 14tubby like protein 1BEWOprostate
chr63565656335656563TCrs9462103N0.4866327941420.7853435-UTRFKBP5
NM_001145776 FK506 binding protein 5U-698adipose tissue
chr63609819136098191CArs12210904N0.182979971170.228834upstreamMAPK13
mitogen-activated protein kinase 13RPMI-8226esophagus
chr63616521336165213CTrs4713936N0.04648808017370.608427intronicBRPF3
bromodomain and PHD finger containing, 3SCLC-21Htestis
chr63682350236823506GAATTGAAATTD0.9995632767683-UTRPPIL1
NM_016059 peptidylprolyl isomerase (cyclophilin)-like 1K-562adrenal gland
chr63698984636989846GCrs831500N2.38945858655e-080.751398intronicFGD2
FYVE, RhoGEF and PH domain containing 2HDLM-2spleen
chr63745091437450914TCrs10692N1.1012261325e-070.6709273-UTRCCDC167
NM_138493 coiled-coil domain containing 167U-698lymph node
chr640206584020658GArs1969836N0.02745022438470.505791upstreamPRPF4B
PRP4 pre-mRNA processing factor 4 homolog B (yeast)K-562bone marrow
chr640206954020695AGrs1969837N0.009566213935610.507588upstreamPRPF4B
PRP4 pre-mRNA processing factor 4 homolog B (yeast)K-562bone marrow
chr640661204066120GArs866165N3.93922050534e-080.958267downstreamPRPF4B
PRP4 pre-mRNA processing factor 4 homolog B (yeast)K-562bone marrow
chr64146238641462418ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCN0.140242367983intergenic
chr64171531141715311GArs2027525N0.001495994976720.992412upstreamPGC
progastricsin (pepsinogen C)Hep-G2stomach
chr64339476443394764ACrs10948077N8.32119549159e-050.497204upstreamABCC10
ATP-binding cassette, sub-family C (CFTR/MRP), member 10NB-4lymph node
chr64339983743399837AGrs700008N5.37895914476e-080.8843855-UTRABCC10
NM_033450 ATP-binding cassette, sub-family C (CFTR/MRP), member 10NB-4lymph node
chr64412241644122427TCTCCTCCTTCATCTCCTTCAN0.416048079729intronicTMEM63B
transmembrane protein 63bK-562lung
chr64418415344184153GArs9462976N1.88051572536e-070.329273upstreamLOC101929726
chr64424497044244970CGrs16871694N0.0001779335289030.1447683-UTRTMEM151B
NM_001137560 SCLC-21Hcerebral cortex
chr64424593044245930CTrs325018N6.6547066524e-080.6395773-UTRTMEM151B
NM_001137560 SCLC-21Hcerebral cortex
chr64425545944255459GArs324146N1.82075723387e-080.644569DNNNnonsynonymous SNVTCTE1
NM_182539210435P=>Lt-complex-associated testis expressed 1Karpas-707testis
chr64610775246107752CGrs7451713N5.46582941752e-060.451677NNNNnonsynonymous SNVENPP4
NM_0149362432144H=>Qectonucleotide pyrophosphatase/phosphodiesterase 4U-266/84bone marrow
chr65210940852109425GTTTTTTTTTTTATTCCAGTTTTTTTTTTATTCCAN1.67373618751e-05upstreamIL17F
Karpas-707urinary bladder
chr65269556352695563ATrs4712019N8.52728609946e-100.974241downstreamGSTA5
BEWOadrenal gland
chr65273520652735206AGrs9474335N5.66747537789e-100.476038intergenic
chr65296631552966315TCrs2013517N9.42646738444e-100.797324downstreamFBXO9
f-box protein 9SCLC-21Hadrenal gland
chr66977281769772817CGrs2793459N1.56784562932e-060.595447intronicADGRB3
chr67077837870778379GCCTN0.000883327797055intronicCOL19A1
collagen, type XIX, alpha 1RH-30lymph node
chr67081212370812123AGrs7772672N1.49427350493e-070.845647intronicCOL19A1
collagen, type XIX, alpha 1RH-30lymph node
chr67403659274036592CGrs517471N0.02849951013920.940895intergenic
chr67817420978174209TCrs1778258N0.001095768762750.931709upstreamHTR1B
TIMEstomach
chr68081629680816296TCrs2298307N0.4866327941420.582468upstreamBCKDHB
branched chain ketoacid dehydrogenase E1, beta polypeptideRH-30liver
chr68429013784290161TAAAGAAAAAAAAAAAAAACTAGATTAAAAAAAAAAAAAACTAGATN0.147144600749intronicSNAP91
synaptosomal-associated protein 91SCLC-21Hcerebral cortex
chr68441900684419006CGrs217281N9.36528920192e-070.9598645-UTRSNAP91
NM_014841 synaptosomal-associated protein 91SCLC-21Hcerebral cortex
chr68977261589772615AGrs10447337N6.59551369608e-060.266573intergenic
chr69003967090039670GCrs10502N8.05024342299e-070.682308NNNNnonsynonymous SNVUBE2J1
NM_0160218685229L=>Vubiquitin-conjugating enzyme E2J 1U-266/70lymph node
chr69706481397064813CArs57425973N8.25263759907e-060.4618613-UTRFHL5
NM_001170807
NM_020482
NM_001322466
NM_001322467
four and a half LIM domains 5A-431testis
chr69712098897120988GArs9374032N9.25914178662e-100.977436intergenic
chr69962253299622551CAAAAAAAAAAAAAGAGTTTCAAAAAAAAAAAAAAGAGTTTN0.103372104466intergenic
chr7100091795100091795TCrs12539172N1.39139338939e-100.7595853-UTRNYAP1
NM_173564 neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1SH-SY5Ycerebral cortex
chr7100240771100240771ATrs1052897N1.85780973938e-110.8861823-UTRACTL6B
NM_016188 actin-like 6BSCLC-21Hcerebral cortex
chr7100271521100271521TCrs221789N0.00213713501580.8590265-UTRGNB2
NM_005273 guanine nucleotide binding protein (G protein), beta 2MCF-7esophagus
chr7100284913100284913CGrs221796N0.4866327941420.909944intronicGIGYF1
GRB10 interacting GYF protein 1NB-4ovary
chr7100285974100285974ACrs221797N7.9450301893e-100.9203275-UTRGIGYF1
NM_022574 GRB10 interacting GYF protein 1NB-4ovary
chr7100817676100817676AGrs740107N1.47277601226e-090.786741intronicNAT16
SH-SY5Ythyroid gland
chr7100933785100933791CGGGGCACGGGGGCAN0.188157975674intergenic
chr7100933792100933792GCrs2410812N0.01122457627210.419529intergenic
chr7101005735101005735CTrs10228118N0.002701135119420.622005upstreamCOL26A1
chr7101459161101459161TCrs28650922N0.4005938768391upstreamCUX1
cut-like homeobox 1U-698thyroid gland
chr7102113563102113575TGGGGGGGGGTCTTGGGGGGGGTCTD0.861162066463-UTRLRWD1
NM_001317721
NM_152892
NM_006234
leucine-rich repeats and WD repeat domain containing 1U-266/84testis
chr7102122620102122620GCrs3988061N0.0086124362424downstreamRASA4B
U-138-MGuterus
chr7102574999102575015TGAAGAAGAAAAGGAACTGAAGAAAAGGAACN1.16269520731e-05nonframeshift substitutionLRRC17
NM_001031692
NM_005824
2,2639,639 RH-30ovary
chr7102743893102743893CTrs3181009N8.55135056099e-080.863618NNNNnonsynonymous SNVNAPEPLD
NM_001122838
NM_198990
5,51165,1165389,389D=>N,D=>NN-acyl phosphatidylethanolamine phospholipase DU-2197kidney
chr71049286310492863CTrs6464013N1.04395225797e-090.795527intergenic
chr7107880612107880612AGrs1269634N4.12936795868e-090.4516775-UTRNRCAM
NM_001037132
NM_001193582
NM_001193583
NM_001193584
NM_005010
neuron-glia-CAM-related cell adhesion moleculeEFO-21cerebral cortex
chr7108204479108204479AGrs40943N0.01745754480360.6369813-UTRTHAP5
NM_001287598
NM_182529
NM_001130475
NM_001287599
NM_001287601
U-266/70thyroid gland
chr7111202501111202501GTrs12154613N0.1759421527390.79992intronicIMMP2L
IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)SK-MEL-30thyroid gland
chr7117024820117024820TGrs1029396N2.38867073676e-070.224241DPNNnonsynonymous SNVASZ1
NM_001301821
NM_001301822
NM_130768
6,5,6647,23,647216,8,216K=>T,K=>T,K=>Tankyrin repeat, SAM and basic leucine zipper domain containing 1U-266/70testis
chr7117176568117176597AGATTGATTGATTGATTGATTGATTGATTTAGATTGATTGATTGATTGATTGATTTN0.425431638956intronicCFTR
CYSTIC FIBROSIScystic fibrosis transmembrane conductance regulatorMOLT-4pancreas
chr7117188660117188690ATGTGTGTGTGTGTGTGTGTGTGTTTTTTTAATGTGTGTGTGTGTGTGTGTGTGTGTTTTTTTAN0.00990120880306intronicCFTR
CYSTIC FIBROSIScystic fibrosis transmembrane conductance regulatorMOLT-4pancreas
chr7117825549117825549TGrs9655829N0.0007344881305470.743411intronicLSM8
chr7120765954120765954TCrs798949N0.0001539558870720.505591intronicCPED1
K-562ovary
chr7120773954120773954AGrs61128227N3.74746377929e-050.374201intronicCPED1
K-562ovary
chr71260998812609988GCrs2240571N3.13375358019e-060.52476upstreamSCIN
scinderinSK-BR-3small intestine
chr712718191271819GArs10249139N1.41352107796e-090.96865upstreamUNCX
NB-4kidney
chr7127232201127232201AGrs10808230N3.74147106186e-070.994808downstreamARF5
SCLC-21Hesophagus
chr7127847324127847324CArs11766170N1.41030298551e-090.747604upstreamMIR129-1
chr7130149326130149326GArs12706943N4.89545925575e-070.429113intronicCOPG2
coatomer protein complex, subunit gamma 2RT-4ovary
chr7130613566130613566CTrs207244N6.68761117595e-070.954273intergenic
chr7133984127133984127AGrs2075371N3.50556539352e-090.475639intronicSLC35B4
solute carrier family 35, member B4U-266/84placenta
chr7134849213134849213GArs3800592N2.18773334382e-060.455871NNNNnonsynonymous SNVTMEM140
NM_0182952207R=>QU-266/70adipose tissue
chr7135347239135347253GCCCCCCCCGCGCATGCCCCCCCCCGCGCATN0.4866327941425-UTRC7orf73
NM_001130929 U-87-MGesophagus
chr71393260113932601CTrs28557435N9.03214303349e-090.6345853-UTRETV1
NM_001163150
NM_001163151
NM_001163152
NM_001163147
NM_004956
NM_001163149
NM_001163148
ets variant gene 1U-87-MGsalivary gland
chr7141947082141947082ACrs916011N6.90085869337e-070.562101upstreamMOXD2P
chr7141998321141998321CTrs116809379N3.68818636656e-130.978035intergenic
chr7142216750142216750ATN0.00103328528348intergenic
chr7142216818142216818ACN0.00448559224606intergenic
chr7142216823142216824AGGAN0.0206724759191intergenic
chr7142216842142216842GArs376929540N0.0330319702625intergenic
chr7142216863142216863TCN0.0421542152762intergenic
chr7142379096142379096TCrs115675145N3.38658046051e-100.979633intergenic
chr7142481269142481269ATN0.000246282172156ncRNAPRSS3P2
chr7142481287142481292GCCCATTCCCGCN0.000365683750715ncRNAPRSS3P2
chr7142482410142482410TCN0.000166833531694downstreamPRSS3P2
chr7142482434142482439GCTCTCCCTCCTN0.000278146821074downstreamPRSS3P2
chr7142482455142482455CTN0.000282798224362downstreamPRSS3P2
chr7148799338148799338CTrs62507512N2.20962338062e-050.603435downstreamZNF425
MCF-7ovary
chr7149321976149321976GCrs3213668N0.4866327941420.241214upstreamZNF767P
chr7149322876149322876TCrs171343N0.1399020552640.771366upstreamZNF767P
chr7154860139154860155AGGGGGGAAGGAGAGACAGGGGAAGGAGAGACN0.0231105796993ncRNAHTR5A-AS1
PC-3cerebral cortex
chr7154876385154876386ACTTN0.002001235028733-UTRHTR5A
NM_024012 5-hydroxytryptamine (serotonin) receptor 5AKarpas-707cerebral cortex
chr7154997261154997271ACCCCCCCATTACCCCCCATTN0.486632794142intergenic
chr7155327307155327307AGrs4716676N1.30296654637e-170.367013upstreamCNPY1
canopy 1 homolog (zebrafish)RPMI-8226pancreas
chr7158498053158498053TCrs4909097N0.01379629876460.997204upstreamNCAPG2
non-SMC condensin II complex, subunit G2MCF-7testis
chr717870031787003GCrs1534788N2.00686017138e-070.431513-UTRELFN1
NM_001128636 U-2-OSliver
chr71981301819813018TCrs12673970N0.04413112625480.38778upstreamTMEM196
SCLC-21Hcerebral cortex
chr72041892620418926TCrs1042277N0.005843530409040.335663intronicITGB8
integrin beta 8WM-115kidney
chr72081749220817496CAAGCCAAAGCN0.274779945612intergenic
chr72353139923531399GCrs6975966N3.7957320842e-080.983227downstreamRPS2P32
chr72387202423872037CTTTGGTTTGGTTACTTTGTTTGGTTTGGTTAN0.003692106110983-UTRSTK31
NM_001260505
NM_031414
NM_001260504
NM_032944
serine threonine kinase 31CACO-2testis
chr72720153227201532CArs875896N5.97685669845e-080.538538downstreamHOXA10-HOXA9
HOXA9
chr72720313927203139GArs7810502N4.22222424124e-130.63139ncRNAHOXA10-HOXA9
chr72724001527240023AGGCGGCCCAGGGCGGCCCN0.415506571531upstreamHOTTIP
HOXA13
chr73100342331003423CTrs2302019N5.44722115592e-060.58107upstreamGHRHR
growth hormone releasing hormone receptorNTERA-2cerebral cortex
chr73298255932982559TCrs3750077N0.2758467793460.548522ncRNARP9P
chr73792473737924737TGrs1530822N1.68203973772e-060.553315intronicNME8
NME/NM23 family member 8U-937bone marrow
chr73827966338279663TCrs1053771N2.59792477664e-06intergenic
chr73846869538468695CTrs2392572N3.90334076172e-090.899561intronicAMPH
amphiphysinU-138-MGcerebral cortex
chr73964905539649055AGrs4723883N0.08727475255730.260783intronicYAE1D1
NTERA-2testis
chr74296061842960618CArs591875N2.46056219844e-090.851837intronicPSMA2
proteasome (prosome, macropain) subunit, alpha type 2NB-4liver
chr74354078243540810CTTTTTTTTTTTTTTTTTTTTCATATGCACTTTTTTTTTTTTTTTTCATATGCAN0.00110069324728intronicHECW1
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1A-549kidney
chr74354078243540810CTTTTTTTTTTTTTTTTTTTTCATATGCACTTTTTTTTTTTTTTTTTCATATGCAN0.000221249472816intronicHECW1
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1A-549kidney
chr74384770943847709GArs589570N4.51261650269e-090.478435downstreamBLVRA
RPMI-8226spleen
chr74391672743916727TGrs2232108N5.51608763999e-070.510982DNNNnonsynonymous SNVURGCP
NM_001290075
NM_001290076
NM_001077664
NM_017920
NM_001077663
6,7,6,5,62206,2206,2206,2308,2335736,736,736,770,779M=>L,M=>L,M=>L,M=>L,M=>Lupregulator of cell proliferationU-266/84adrenal gland
chr74408429244084292CGrs4430012N0.4866327941420.4486825-UTRDBNL
NM_001014436
NM_001122956
NM_014063
NM_001284313
NM_001284315
drebrin-likeWM-115esophagus
chr74414748544147485CArs2537188N5.98847336164e-080.357428NNNNnonsynonymous SNVAEBP1
NM_0011295817273P=>TAE binding protein 1WM-115gallbladder
chr74474942644749426CTrs1076274N6.03993503319e-050.249401downstreamOGDH
oxoglutarate dehydrogenase (lipoamide)RPMI-8226heart muscle
chr74483999744840023CTTTTTTTTTTTTTTTCTTTTCTCAGACTTTTTTTTTTTTTTTTCTTTTCTCAGAN0.45138502121intronicPPIA
NB-4lymph node
chr74495993644959936AGrs4724334N5.77013659075e-100.559505intergenic
chr74511951545119515AGrs111979067N7.44714556689e-090.0652955downstreamNACAD
NAC alpha domain containingSCLC-21Hcerebral cortex
chr74511994645119946TGrs35199312N4.66896313278e-120.219249downstreamNACAD
NAC alpha domain containingSCLC-21Hcerebral cortex
chr74512246445122464ACrs10243185N2.95360402802e-090.485623NNNNnonsynonymous SNVNACAD
NM_001146334233151105D=>ENAC alpha domain containingSCLC-21Hcerebral cortex
chr74512400845124008TCrs7777835N6.51299487799e-050.636581NNNNnonsynonymous SNVNACAD
NM_00114633421771591K=>ENAC alpha domain containingSCLC-21Hcerebral cortex
chr74514866745148667GArs2304693N3.11826688915e-080.126398NNNNnonsynonymous SNVTBRG4
NM_001261834
NM_004749
NM_030900
NM_199122
2,2,2,2203,170,170,17068,57,57,57P=>L,P=>L,P=>L,P=>Ltransforming growth factor beta regulated gene 4K-562appendix
chr74585400145854001CTrs112123244N1.54922181537e-050.120807intergenic
chr74731751047317510GArs3750163N4.54099199487e-060.281553-UTRTNS3
NM_022748 tensin 3A-549placenta
chr74783502747835027AGrs9719534N5.79933683298e-080.665335nonsynonymous SNVC7orf69
NM_02503119432K=>EU-138-MGadipose tissue
chr74798855247988552TCrs2708860N1.20668952608e-090.850839upstreamPKD1L1
polycystic kidney disease 1 like 1U-266/70testis
chr74831579648315796CArs1880736N7.51989759351e-090.812899NNNNnonsynonymous SNVABCA13
NM_1527011765332178A=>EATP-binding cassette, sub-family A (ABC1), member 13U-2-OSbone marrow
chr74831881148318811CTrs2222648N4.42744720885e-080.852236NNNNnonsynonymous SNVABCA13
NM_1527011880202674R=>WATP-binding cassette, sub-family A (ABC1), member 13U-2-OSbone marrow
chr74888754848887548GCrs4404869N3.83120914194e-060.58766intergenic
chr74896420948964217TGGGCCGCCTGGCCGCCN0.0209951922297ncRNACDC14C
chr74896542748965427AGrs388312N4.84271879486e-070.529553ncRNACDC14C
chr74981539049815390CGrs769604N0.4866327941420.494209NNNNnonsynonymous SNVVWC2
NM_1985702359,120120A=>Gvon Willebrand factor C domain containing 2U-266/70heart muscle
chr75002312250023122CTrs988392N2.907969332e-080.783347intronicZPBP
zona pellucida binding proteinHDLM-2testis
chr75015691650156916CGrs6959792N3.44663995122e-080.844649intronicC7orf72
U-698testis
chr75017377750173777AGrs998928N1.3766353959e-060.586262NNNnonsynonymous SNVC7orf72
NM_0011618344802,268268T=>AU-698testis
chr75108356951083569GTrs7804555N7.14729253559e-080.453474downstreamCOBL
cordon-bleuHeLasalivary gland
chr75108512751085133ATTTGGCATTTTGGCN0.001127800205723-UTRCOBL
NM_001287436
NM_015198
cordon-bleuHeLasalivary gland
chr751564725156472CArs4400288N3.96637324229e-060.302915intergenic
chr752574905257490TCrs7791896N7.4203853782e-140.960463intronicWIPI2
WD repeat domain, phosphoinositide interacting 2U-2-OStestis
chr75307172253071724TGCTGGCN0.00346326548606intergenic
chr75393174253931742AGrs12532893N6.23637379249e-060.432109intergenic
chr75541266155412682GCGCCCGCCCGCCTCTCCTGCCGCGCCCGCCCGCCTCTCCTGCCGCCCGCCCGCCTCTCCTGCCN0.486632794142intergenic
chr75565892755658927TCrs62455009N0.0003121479821860.309505intergenic
chr75565969355659693GArs11974462N0.0001118451109510.197484intergenic
chr75565969855659715ACCCCCCCTCTTTTCCTGACCCCCCTCTTTTCCTGN0.00918830931187intergenic
chr75565973255659732TGrs7798941N2.76126513654e-070.816693intergenic
chr75572444555724445ACrs9656709N1.42323087857e-050.414337intergenic
chr75612205856122058ATrs6593297N2.32399434026e-050.642372intronicCCT6A
chaperonin containing Tcp1, subunit 6a (zeta)A-431appendix
chr75644336156443361TGrs6965270N2.93013813213e-090.719449intergenic
chr75718801657188016AGrs11981414N6.67953810752e-130.321685NNNNnonsynonymous SNVZNF479
NM_03327351106369M=>TA-431testis
chr75718852657188526TCrs7805171N3.76982055598e-130.321286NNNNnonsynonymous SNVZNF479
NM_0332735596199H=>RA-431testis
chr75723355457233554GCrs34820155N5.93840425722e-080.230232ncRNAGUSBP10
chr75747328557473285GCrs6557577N6.76480382822e-080.84365downstreamMIR3147
chr75748413157484131GArs6557578N1.59739474981e-080.602636intergenic
chr75748565057485650CTrs7809672N0.000125722217490.261981intergenic
chr75771095557710956CCGGN0.033300794661intergenic
chr75771107657711076TCrs377454694N0.00608692783862intergenic
chr76280936962809369TCrs2241015N1.76069381297e-080.63758ncRNALOC102724738
chr76307149863071498TCrs3857654N0.00250526564196intergenic
chr76381562163815621GCrs603101N6.8398850317e-070.5389383-UTRZNF736
NM_001170905 AN3-CAtestis
chr76449864164498659CGCGGCGGCGGCCGCGGCACGCGGCGGCGGCGGCGGCGGCGGCGGCCGCGGCAN0.486632794142upstreamCCT6P3
chr76472772564727726GCTTN0.0242482963949intergenic
chr76522850765228507CTrs1799103N8.9441316959e-05ncRNACCT6P1
chr765233966523396CGrs12113949N0.0410356819630.796925intronicKDELR2
KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2WM-115stomach
chr766834546683454AGrs2253869N2.17507658817e-060.709665nonsynonymous SNVZNF316
NM_0012785597467156E=>G
chr766926056692605TCrs1474419N1.51656269765e-080.838458nonsynonymous SNVZNF316
NM_00127855991378460S=>P
chr76723584867235848TCrs60373586N2.44749376321e-090.742612intergenic
chr768634746863474CGrs2711231N0.0309472139925intronicCCZ1B
THP-1skin
chr768948496894849GArs10276823N3.31698083755e-060.858027intergenic
chr768948556894855GTrs10276825N3.67310985894e-060.858027intergenic
chr77327948273279482TCrs13227841N5.02850372452e-100.561701NNNNnonsynonymous SNVWBSCR28
NM_182504223278W=>RWilliams-Beuren syndrome chromosome region 28 (human)MCF-7testis
chr77352368573523685GArs150865N2.84473644641e-090.826078intronicLIMK1
LIM-domain containing, protein kinaseU-87-MGcerebral cortex
chr77381474973814749GCrs2522943N1.41159812728e-080.988818NNNNnonsynonymous SNVCLIP2
NM_003388
NM_032421
15,142930,2825977,942R=>P,R=>PCAP-GLY domain containing linker protein 2HDLM-2cerebral cortex
chr77448948674489486TCrs6955671N0.4866327941420.467652nonsynonymous SNVRCC1L
NM_030798
NM_001281441
NM_148842
1,1,188,88,8830,30,30R=>G,R=>G,R=>G
chr77477622574776225GTrs34472859N0.0003134137950840.11262ncRNAGTF2IP1
PMS2P5
chr77682895376828953CTrs2075761N0.0002290559350510.151757NNNNnonsynonymous SNVFGL2
NM_006682115853G=>EWM-115spleen
chr77688925676889315AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAN0.229392066598intronicCCDC146
coiled-coil domain containing 146NB-4testis
chr77716591977165919AGrs3763404N0.005990250501780.365415upstreamPTPN12
protein tyrosine phosphatase, non-receptor type 12WM-115lung
chr77758415977584174ATTTTTTTTTTTCTAGATTTTTTTTTTTTCTAGD0.665250003338intronicPHTF2
putative homeodomain transcription factor 2U-138-MGlymph node
chr77770813177708131AGrs73136595N5.33016027475e-050.214856intronicMAGI2
membrane associated guanylate kinase, WW and PDZ domain containing 2Karpas-707cerebral cortex
chr77976474279764742AGrs2465480N4.52794984085e-060.835064intronicGNAI1
guanine nucleotide binding protein (G protein), alpha inhibiting 1A-549adipose tissue
chr78157983281579866TAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATCTAAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATCN0.0011714581633intronicCACNA2D1
calcium channel, voltage-dependent, alpha2/delta subunit 1SH-SY5Yheart muscle
chr78996404489964049TCCCGATCCCCGAN0.026404781267upstreamLOC101927446
chr79083870890838722GTCTCTCTCTCTCTGGTCTCTCTCTCTCTCTGN0.2929989695553-UTRCDK14
NM_001287135
NM_012395
NM_001287136
NM_001287137
cyclin-dependent kinase 14Karpas-707cerebral cortex
chr79159982591599825ACrs2188155N3.40417900588e-050.372404intronicAKAP9
A kinase (PRKA) anchor protein (yotiao) 9MCF-7colon
chr79165217891652182AAACTAAACAACTN0.350123465061nonframeshift substitutionAKAP9
NM_147185
NM_005751
14,144003,4003 A kinase (PRKA) anchor protein (yotiao) 9MCF-7colon
chr79170719791707197CTrs733957N0.00263573438860.36242intronicAKAP9
A kinase (PRKA) anchor protein (yotiao) 9MCF-7colon
chr79171301691713018TAATTN0.0603901259601intronicAKAP9
A kinase (PRKA) anchor protein (yotiao) 9MCF-7colon
chr79207130292071302CTrs38804N1.28179702963e-100.9998intergenic
chr79212916192129186CAAAAAAAAAAAATATGAAAAAGAGCCAAAAAAAAAAATATGAAAAAGAGCN0.16381829977intronicPEX1
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1B, INCLUDEDperoxisomal biogenesis factor 1SK-BR-3skin
chr79512505095125070CTTTTTTTTTTTTTTTTCAGGCTTTTTTTTTTTTTTCAGGN0.158232197165nonframeshift substitutionASB4
NM_016116
NM_145872
2,2188,188 ankyrin repeat and SOCS box-containing 4Hep-G2adrenal gland
chr79706678797066787CArs78471983N0.000140951204230.186701intergenic
chr79844428798444287CTrs1047035N4.4689824108e-070.2088663-UTRTMEM130
NM_001134450
NM_001134451
NM_152913
transmembrane protein 130SH-SY5Ycerebral cortex
chr79864851798648531TGGGGGGGGGGTCTCTGGGGGGGGGTCTCN0.323937445879intronicSMURF1
SMAD specific E3 ubiquitin protein ligase 1U-2197testis
chr79981627299816275ACCGGCCCD0.692001461983intronicGATS
chr79981892799818927CTrs705867N0.4866327941420.4824283-UTRPVRIG
NM_024070 MOLT-4lymph node
chr79981900499819009CTCTGTCTN0.4866327941423-UTRPVRIG
NM_024070 MOLT-4lymph node
chr81033948010339480AGrs4476970N3.52899363065e-080.997404ncRNALINCR-0001
chr81118953511189535TCrs12681991N5.62656941838e-060.429712NNNNnonsynonymous SNVSLC35G5
NM_054028135,920307L=>PHeLatestis
chr8113241088113241088TGrs1592624N7.23543223557e-070.71226NDPNnonsynonymous SNVCSMD3
NM_198124
NM_198123
NM_052900
71,70,6810741,10861,103543581,3621,3452N=>H,N=>H,N=>HCUB and Sushi multiple domains 3SCLC-21Htestis
chr8116635872116635874TAGTAAGD0.9968218803415-UTRTRPS1
NM_001282903
NM_014112
trichorhinophalangeal syndrome I (human)SK-BR-3esophagus
chr8117799012117799012AGrs1867840N4.25755608546e-090.798722intergenic
chr81229435912294359GCrs2980473N0.4866327941420.757388upstreamFAM86B2
LOC100506990
chr81243708612437086ACrs632696N1.69771581682e-070.989217ncRNALOC729732
chr81248589012485890TCrs624361N4.52644322024e-090.990016ncRNALOC729732
chr81251672912516729TGrs658131N1.2159523605e-120.95028ncRNALOC729732
chr8125321494125321494GCrs35076079N0.00056163239060.143371intergenic
chr8136246261136246261GArs1115836N9.19494524965e-090.792133upstreamLINC01591
chr8139096378139096378TGrs3861782N3.35255208483e-060.566294intergenic
chr8139141428139141428CArs6577874N4.92006613229e-090.879393downstreamFAM135B
family with sequence similarity 135, member BRH-30testis
chr8141528090141528090CTrs4961330N9.71017698248e-070.773363downstreamCHRAC1
MOLT-4lymph node
chr8142217172142217172CTrs10098385N3.49976297942e-110.324481downstreamSLC45A4
solute carrier family 45, member 4HMC-1testis
chr8142220532142220537GAAAGTGAAGTD0.8533484339713-UTRSLC45A4
NM_001080431
NM_001286646
solute carrier family 45, member 4HMC-1testis
chr8142443150142443150TCrs7823705N1.82284082939e-070.55611downstreamMROH5
PTP4A3
chr8142443841142443841ACrs6578182N5.19186213119e-120.516174downstreamMROH5
chr8142517222142517222AGrs2748421N1.56195505951e-060.368211exonicMROH5
chr8143603318143603318CTrs7462471N1.02533050494e-070.547724intronicADGRB1
chr8143653753143653753TGrs7386652N2.17270368807e-070.63099intergenic
chr8143722537143722537CTrs6984406N6.91464774327e-100.509185downstreamLOC101928087
chr8143743611143743611GArs2976400N8.32489133185e-100.4922123-UTRJRK
NM_003724
chr8144391452144391452GArs11136285N8.14193754195e-070.615615downstreamTOP1MT
DNA topoisomerase 1, mitochondrialMOLT-4ovary
chr8144391728144391728AGrs7386475N5.75092751198e-110.584665intronicTOP1MT
DNA topoisomerase 1, mitochondrialMOLT-4ovary
chr8144391924144391925CTTCN0.000437081005657intronicTOP1MT
DNA topoisomerase 1, mitochondrialMOLT-4ovary
chr8144399885144399886AGCTN0.00581039953977intronicTOP1MT
DNA topoisomerase 1, mitochondrialMOLT-4ovary
chr8144649541144649550GCCCCGGGCAGCCCCCGGGCGN0.486632794142frameshift substitutionMROH6
NM_001100878142019 SK-BR-3bone marrow
chr8144649541144649550GCCCCGGGCAGCCCCGGGCGN0.486632794142nonframeshift substitutionMROH6
NM_001100878142019 SK-BR-3bone marrow
chr8144676098144676098ACrs1057556N5.1706177534e-110.737425-UTREEF1D
NM_001130055 eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)U-2-OSovary
chr8144681777144681777GTrs10282929N1.44145251291e-090.59984NNNNnonsynonymous SNVTIGD5
NM_03286211704568M=>IPC-3spleen
chr8144686512144686512GArs755217N3.7582569945e-080.2424123-UTRPYCRL
NM_023078 pyrroline-5-carboxylate reductase-likePC-3salivary gland
chr8145004546145004546GArs11780911N3.7351604476e-080.571885intronicPLEC
plectinPC-3skin
chr8145063412145063412TCrs11784833N3.86550347287e-090.208267upstreamGRINA
MCF-7adipose tissue
chr8145167922145167922GCrs4977194N1.43555634047e-090.872404intronicWDR97
chr8145223191145223191GArs6982878N3.92951730183e-120.844449intronicMROH1
PC-3thyroid gland
chr8145741702145741702CGrs4244612N0.002479199087250.447684NNnonsynonymous SNVRECQL4
NM_0042605801267E=>DRecQ protein-like 4MCF-7bone marrow
chr8145750138145750138TCrs2721138N0.003873256035150.5587063-UTRLRRC14
NM_001272036
NM_014665
leucine rich repeat containing 14U-2-OSprostate
chr8145752467145752467ATrs2721142N0.4866327941420.4430913-UTRC8orf82
NM_001001795 PC-3prostate
chr8146221823146221823ATrs2978409N3.39534764748e-081ncRNATMED10P1
chr816773991677399ACrs2977181N5.22332666009e-090.837061intergenic
chr81685041616850416AGrs2640901N3.79589124577e-080.9534743-UTRFGF20
NM_019851 CAPAN-2ovary
chr82023124420231288AGAGGAGGAGGAAGAAGAGGAGGAGAGAAAGGAGGAGGAAGAAAAAGAGGAGGAAGAAGAGGAGGAAGAAGAGGAGAGAAAGGAGGAGGAAGAAAAN0.0338137149811intergenic
chr82194012121940121TGrs1872224N3.57628859859e-090.897364downstreamDMTN
HELcerebral cortex
chr82194081821940818GArs6557784N5.3149510677e-060.738618downstreamDMTN
HELcerebral cortex
chr82672299226723003GGTTGGGTAGCGGGN0.2682429552085-UTRADRA1A
NM_001322503
NM_033303
NM_001322502
NM_033302
NM_033304
NM_000680
NM_001322504
adrenergic receptor, alpha 1aU-2-OSliver
chr82672300626723017GCGCTACAGGTTTCTN0.02687832154335-UTRADRA1A
NM_001322503
NM_033303
NM_001322502
NM_033302
NM_033304
NM_000680
NM_001322504
adrenergic receptor, alpha 1aU-2-OSliver
chr83062399630623996TCrs2956016N5.22957996907e-080.9794333-UTRUBXN8
NM_001282189
NM_001282199
NM_005671
UBX domain protein 8
chr83613484836134848CTrs55884086N3.59092496183e-070.697883intergenic
chr83933144739331447CTrs62510460N0.000232888589380.264377ncRNAADAM3A
chr84025957340259573CGrs210884N5.06302276335e-050.267971intergenic
chr84025959840259598CTrs57480539N0.0001077271299440.217652intergenic
chr84025987640259876CTrs12679419N0.0002221304457630.216054intergenic
chr84025995840259958GArs35401145N0.0001788515364750.228634intergenic
chr84138662041386620GTrs3808638N0.4866327941420.101038upstreamGINS4
GINS complex subunit 4 (Sld5 homolog)WM-115lymph node
chr84150816841508168ACrs6981607N3.53572613676e-050.589457intergenic
chr84323419443234194TCrs2020394N2.17132836156e-070.821486intergenic
chr84799695747996957CTrs1846505N1.81874952432e-060.648762intergenic
chr85543593155435931AGrs7840175N2.09796985473e-060.679912intergenic
chr85713588957135889TCrs6984782N3.50338741555e-050.214257intergenic
chr866994866699486CGrs2951830N1.02658441392e-060.327077ncRNAGS1-24F4.2
chr87004170770041707TCrs10090741N3.01085614773e-110.890176intergenic
chr87269150472691504CTrs13281926N3.67712971183e-070.907548intergenic
chr88126254481262544CTrs62517192N5.18492424817e-060.4375intergenic
chr889979758997975GArs13264959D0.9764580130580.01777163-UTRPPP1R3B
NM_024607
NM_001201329
protein phosphatase 1, regulatory (inhibitor) subunit 3BBEWOliver
chr89042472990424729GArs11777120N5.25322785272e-100.988818intergenic
chr89604780696047826TAAAAAAAAAAAAATACCACTTAAAAAAAAAAAAAATACCACTD0.997671425343intronicNDUFAF6
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6U-698thyroid gland
chr89717348497173484TCrs2245091N0.0009663964738140.271965upstreamGDF6
BEWOplacenta
chr89878793098787950GTGCTTGGAGCTCCAGCAGCTGTGCTTGGAGCTCCAGCAGCTGCTTGGAGCTCCAGCAGCTN0.4866327941425-UTRLAPTM4B
NM_018407 lysosomal-associated protein transmembrane 4BHELheart muscle
chr9100087345100087345AGrs3747496N1.74523584473e-090.598043synonymous SNVCCDC180
NM_020893141548516S=>SU-266/70testis
chr9100092968100092987AGAGGAGGAGGAGGAGAAGCAGAGGAGGAGGAGGAGGAGGAGAAGCN0.000660509162117nonframeshift substitutionCCDC180
NM_020893182325 U-266/70testis
chr9100132194100132194CArs2169456N8.01962514174e-080.579673ncRNALOC100499484-C9ORF174
chr9100843417100843417AGrs4237190N1.26032102798e-060.653554intronicNANS
SK-BR-3colon
chr9101748234101748234GArs2075662N5.83659448239e-060.244808NNNNnonsynonymous SNVCOL15A1
NM_0018553488163R=>Hcollagen, type XV, alpha 1U-2197placenta
chr9101832263101832280GTTTTTTTTTTTTACTACGGTTTTTTTTTTTTTACTACN0.1217024549843-UTRCOL15A1
NM_001855 collagen, type XV, alpha 1U-2197placenta
chr9104161154104161154CArs2253258N0.4866327941420.881195-UTRZNF189
NM_001278231
NM_001278232
NM_001278240
NM_003452
NM_197977
RH-30gallbladder
chr9106761709106761709ACrs628605N1.58181814869e-100.98722upstreamLOC101928523
chr9111929420111929421CGGCN0.486632794142exonicFRRS1L
chr9115866704115866704CGrs6477985N1.91434210706e-070.839657downstreamFAM225B
chr9115913145115913145TCrs4602967N0.03746817633510.777356upstreamSLC31A2
solute carrier family 31, member 2HaCaTsalivary gland
chr9116192592116192592AGrs818715N1.26381308196e-100.996805downstreamC9orf43
SiHatestis
chr9123150453123150453AGrs4836819N1.06795550181e-080.682109downstreamCDK5RAP2
CDK5 regulatory subunit associated protein 2RH-30testis
chr9127956061127956061AGrs12238347N0.0004506771801970.0473243intergenic
chr9130668278130668278TArs2094333N9.80363217635e-150.759984upstreamST6GALNAC6
HDLM-2colon
chr9130742834130742834TGrs113481265N0.166095823050.751797upstreamFAM102A
family with sequence similarity 102, member AA-549stomach
chr9132805814132805814TGrs7037717N0.07443502545360.965855upstreamFNBP1
formin binding protein 1MOLT-4lymph node
chr9132806941132806941AGrs2417174N2.03827039513e-060.963858intergenic
chr9132887249132887268TAAAAAAAAAAAAAATCCTCTAAAAAAAAAAAAATCCTCN0.132149532437intronicGPR107
G protein-coupled receptor 107HaCaTthyroid gland
chr9135972557135972557AGrs581854N5.5169881108e-080.830272downstreamRALGDS
ral guanine nucleotide dissociation stimulatorHDLM-2skin
chr9136080416136080416AGrs9411462N3.97679241967e-120.980831downstreamOBP2B
odorant binding protein 2BRPMI-8226testis
chr9136208193136208193TCrs622415N4.00153608165e-120.9167333-UTRMED22
NM_133640
NM_181491
mediator complex subunit 22REHovary
chr9137735232137735241GCTATCTATCGCTATCN0.343778967857ncRNALOC101448202
chr9138853386138853386TCrs6537922N0.4866327941420.986022upstreamUBAC1
ubiquitin associated domain containing 1K-562bone marrow
chr9139622866139622866AGrs9411222N0.4866327941420.756589upstreamSNHG7
chr9139776194139776194GCrs3739943N8.08198877369e-220.772963intergenic
chr9139870090139870090CTrs3814500N9.99101111088e-140.714257intergenic
chr9140004959140004959CTrs6420281N7.33652097407e-110.804113downstreamDPP7
dipeptidylpeptidase 7RPMI-8226spleen
chr9140085210140085210GCrs67506437N7.1343530042e-120.266374downstreamSSNA1
TPRN
chr9140144732140144732AGrs1133439N6.53079312851e-100.852835ncRNAC9orf173-AS1
chr91461218814612188TGrs1143025N2.58709842456e-050.3156953-UTRZDHHC21
NM_178566 HELesophagus
chr91641271816412765GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGAGAGAGAGAGAGAGAGACN0.003846305422483-UTRBNC2
NM_017637
NM_001317940
NM_001317939
basonuclin 2Karpas-707ovary
chr92033269920332699AGrs178607N1.95185663188e-080.994209intergenic
chr92103220321032203AGrs10738576N5.21714290692e-130.974641upstreamHACD4
chr92729765627297656GArs10116338N9.13613629194e-090.832268upstreamEQTN
equatorin, sperm acrosome associatedBEWOtestis
chr93310342733103427CGrs546688N0.0002316789177710.433506intergenic
chr93436613434366134ACrs4879779N6.18591457169e-070.773762downstreamKIAA1161
SK-BR-3duodenum
chr93775370937753709TCrs7847996N0.01764781959350.995807upstreamTRMT10B
tRNA methyltransferase 10 homolog B (S. cerevisiae)HL-60ovary
chr93840709038407091CTTCN4.65632666646e-073-UTRIGFBPL1
NM_001007563 insulin-like growth factor binding protein-like 1SCLC-21Hthyroid gland
chr93862036638620386TCCGCGATCTCCCCCGCAACCTCN0.319996476173upstreamANKRD18A
FAM201A
chr93862036638620386TCCGCGATCTCCCCCGCAACCTCCGCGATCCCCCCCGCAACCN0.217867955565upstreamANKRD18A
FAM201A
chr94243822042438220TCrs1111028N0.000756075023673intergenic
chr94306662043066620GTrs4929402N8.3874372649e-05intergenic
chr94306680143066801GArs2218955N0.00195105781313intergenic
chr94536339445363394TGrs4913217N1.81219002116e-050.599241intergenic
chr94572917245729172GTrs62556706D0.999886155128intergenic
chr94572917845729178TArs62556707D0.999664902687intergenic
chr94572922645729226GArs62556708D0.999405384064intergenic
chr957201725720172CGrs10758700N2.00603736289e-070.495208intronicRIC1
chr96733512967335129TCrs4929654N2.18325430978e-060.986422downstreamLOC102724580
chr96779128867791288GCrs36140591D1.0intergenic
chr96779142367791423CGrs112591433D1.0intergenic
chr96841052068410526CGTCTGTTGTCTGTGTN0.000456925277831intergenic
chr96841289668412897CTCCD0.828700363636intergenic
chr96841289668412897CTTCD0.828700363636intergenic
chr96841341568413418TGCAAGCGN0.486632794142intergenic
chr96841341568413418TGCACGCGN0.486632794142intergenic
chr96841506468415065TCCAD1.0upstream,downstreamMIR4477B;MIR4477A
chr96841506468415065TCTAD1.0upstream,downstreamMIR4477B;MIR4477A
chr96841583868415838AGrs79907211D1.0upstream,downstreamMIR4477A;MIR4477B
chr96841593768415945GTGGTAAGTTTCGTGAGGD1.0upstream,downstreamMIR4477A;MIR4477B
chr96841593768415945GTGGTAAGTTTGGTAAGGD1.0upstream,downstreamMIR4477A;MIR4477B
chr96841602968416036ATAACTAACTAATTAAD1.0upstream,downstreamMIR4477A;MIR4477B
chr96841602968416036ATAACTAACTAATTATD1.0upstream,downstreamMIR4477A;MIR4477B
chr96918008469180084TCN0.013135981746ncRNALOC440896
chr96945188569451885TArs4143374N0.0019093042938intergenic
chr97162911771629117CTrs12555211N5.49346350454e-060.324681upstreamPRKACG
A-431testis
chr97237496972374969TCrs2252130N0.4866327941420.891573upstreamPTAR1
protein prenyltransferase alpha subunit repeat containing 1WM-115bone marrow
chr97373653173736531CTrs59612871N6.69914061291e-060.0942492upstreamTRPM3
transient receptor potential cation channel, subfamily M, member 3TIMEkidney
chr97498019974980223CCGGCGGCGGCGGCGGCGGCGGGGACCGGCGGCGGCGGCGGCGGGGAN0.486632794142upstreamZFAND5
zinc finger, AN1-type domain 5HDLM-2adipose tissue
chr97764351977643519CGrs719507N0.1392692774530.746805upstreamCARNMT1
chr97880832978808337GAAAAAAGCGAAAAAAAAAAGCN0.1177620813253-UTRPCSK5
NM_006200 proprotein convertase subtilisin/kexin type 5HaCaTsmall intestine
chr97960827279608272CTrs10781405N4.59443690488e-050.397564intergenic
chr98581703785817059CAAAAAAAAAAGAAAAACCACCCCAAAAAAAAAAAGAAAAACCACCCN0.0052143689245intergenic
chr98842060288420606TCCTAGCCTCN0.103743523359upstreamLOC389765
chr98842060288420606TCCTATCCTCN0.103743523359upstreamLOC389765
chr99221992192219921ACrs3138499N0.4866327941420.410743upstreamGADD45G
HDLM-2liver
chr99334504793345047AGrs689720N1.41194549386e-080.68111upstreamLINC01501
chr99383785393837853GArs177039N3.53088435077e-050.452875upstreamLOC100129316
chr99557087695570876CTrs1830693N0.0001700555294520.969649upstreamLOC101929748
chr99585807795858077CGrs115317746N0.0447296276689upstreamCARD19
chr99587442895874428GArs10821071N0.0002784442913250.452276intronicCARD19
chr99869113798691137TCrs2274654N0.1734829097990.227037DDDNnonsynonymous SNVERCC6L2
NM_001010895
NM_020207
11,111775,1775592,592V=>A,V=>ARH-30thyroid gland
chr99912251199122532TAAAAAAAAAAGAAGAAATATTTAAAAAAAAAAAGAAGAAATATTN0.444748193026intronicSLC35D2
solute carrier family 35, member D2Hep-G2small intestine
chr99915452599154525CTrs35592391N0.2817354798320.0219649intronicZNF367
RH-30bone marrow