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Official SymbolDescriptionOther AliasesOther DescriptionMutation type
AC011537.1NANANAInsert and frame-shift 171-172:I-V^G
AC022762.1NANANAInsert and frame-shift 254-255:S-T^C
AC111177.1NANANAInsert and frame-shift 261-262:T-T^C
AC117834.1NANANAInsert and frame-shift 14-15:W-G^G
ACCN2NANANAInsert and frame-shift 439-440:P-V^T, Insert and frame-shift 465-466:G-P^ACTTC, premature termination 452:Y->TAA
ACCS1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)ACS, PHACS1-aminocyclopropane-1-carboxylate synthase-like protein 1; ACC synthase-like protein 1Insert and frame-shift 489-490:R-P^T, premature termination 279:H->TGA
ALS2CR12amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12NAamyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 proteinpremature termination 321:Q->TGA
AMHR2anti-Mullerian hormone receptor, type IIAMHR, MISR2, MISRII, MRIIAMH type II receptor; MIS type II receptor; Mullerian inhibiting substance type II receptor; anti-Muellerian hormone type II receptor; anti-Muellerian hormone type-2 receptorInsert and frame-shift 538-539:A-P^GC
ANKK1ankyrin repeat and kinase domain containing 1PKK2X-kinase; ankyrin repeat and protein kinase domain-containing protein 1; protein kinase PKK2; sgK288; sugen kinase 288Insert and frame-shift 424-425:V-D^A, Insert and frame-shift 83-84:I-V^AT, premature termination 92:Q->TGA
ARHGEF18Rho/Rac guanine nucleotide exchange factor (GEF) 18P114-RhoGEF114 kDa Rho-specific guanine nucleotide exchange factor; P114-RHO-GEF; Rho-specific guanine nucleotide exchange factor p114; Rho/Rac guanine nucleotide exchange factor 18; SA-RhoGEF; p114RhoGEF; rho guanine nucleotide exchange factor 18; septin-associated RhoGEFInsert and frame-shift 51-52:P-G^CG
ARMCX3armadillo repeat containing, X-linked 3RP4-545K15.2, ALEX3, dJ545K15.21200004E24Rik; ARM protein lost in epithelial cancers on chromosome X 3; arm protein lost in epithelial cancers, X chromosome, 3; armadillo repeat-containing X-linked protein 3Insert and frame-shift 103-104:R-A^G, premature termination 60:W->TGA
ARMCX4armadillo repeat containing, X-linked 4LL0XNC01-209G1.1, CXorf35armadillo repeat containing, X-linked 4 pseudogene; armadillo repeat-containing X-linked protein 4Insert and frame-shift 101-102:R-G^AG
ASPMasp (abnormal spindle) homolog, microcephaly associated (Drosophila)RP11-32D17.1, ASP, Calmbp1, MCPH5abnormal spindle-like microcephaly-associated proteinpremature termination 3080:K->TAA
BBC3BCL2 binding component 3JFY-1, JFY1, PUMAbcl-2-binding component 3; p53 up-regulated modulator of apoptosispremature termination 144:Q->TAG
BCL2L12BCL2-like 12 (proline rich)NABcl-2 related proline-rich protein; bcl-2-like protein 12; bcl-2-related proline-rich protein; bcl2-L-12Insert and frame-shift 45-46:R-P^C
C12orf28NANANAInsert and frame-shift 645-646:I-S^TT
C14orf37chromosome 14 open reading frame 37c14_5376uncharacterized protein C14orf37Insert and frame-shift 33-34:C-H^A
C18orf26NANANApremature termination 18:E->TAA
C20orf24chromosome 20 open reading frame 24PNAS-11, RIP5rab5-interacting protein; uncharacterized protein C20orf24premature termination 128:R->TGA
C2orf73chromosome 2 open reading frame 73NAuncharacterized protein C2orf73premature termination 225:Q->TGA
C9orf174chromosome 9 open reading frame 174hCG_1994099, BDAG1, KIAA1529Behcet's Disease Associated Gene 1; uncharacterized protein C9orf174Insert and frame-shift 15-16:P-N^C, premature termination 153:S->TGA
CABIN1calcineurin binding protein 1CAIN, PPP3INcalcineurin binding protein cabin 1; calcineurin inhibitor; calcineurin-binding protein cabin-1premature termination 1590:D->TGA, premature termination 1958:R->TGA, premature termination 2020:R->TGA, premature termination 2091:P->TGA
CCDC102Bcoiled-coil domain containing 102BACY1L, AN, C18orf14, HsT1731coiled-coil domain-containing protein 102BInsert and frame-shift 376-377:L-E^CT, premature termination 363:W->TAG
CCDC28Acoiled-coil domain containing 28ARP3-509I19.10-001, C6orf80, CCRL1APchemokine C-C motif receptor-like 1 adjacent; coiled-coil domain-containing protein 28AInsert and frame-shift 27-28:L-L^C
CDK11Acyclin-dependent kinase 11ARP1-283E3.2, CDC2L2, CDC2L3, CDK11-p110, CDK11-p46, CDK11-p58, PITSLRE, p58GTAPITSLRE B; PITSLRE protein kinase beta; PITSLRE serine/threonine-protein kinase CDC2L2; cell division cycle 2-like 2 (PITSLRE proteins); cell division cycle 2-like protein kinase 2; cell division protein kinase 11A; galactosyltransferase-associated protein kinase p58/GTApremature termination 252:Q->TAG
CDKN1Bcyclin-dependent kinase inhibitor 1B (p27, Kip1)CDKN4, KIP1, MEN1B, MEN4, P27KIP1cyclin-dependent kinase inhibitor 1BInsert and frame-shift 176-177:I-H^TA
CKMT1Acreatine kinase, mitochondrial 1ACKMT1U-MtCK; acidic-type mitochondrial creatine kinase; creatine kinase U-type, mitochondrial; creatine kinase, mitochondrial 1 (ubiquitous); mia-CK; ubiquitous mitochondrial creatine kinaseInsert and frame-shift 77-78:Y-P^AC
CLEC5AC-type lectin domain family 5, member ACLECSF5, MDL-1, MDL1C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5; C-type lectin domain family 5 member A; C-type lectin superfamily member 5; myeloid DAP12-associating lectin 1; myeloid DAP12-associating lectin-1premature termination 43:S->TGA
CTD-3074O7.11NANANAInsert and frame-shift 38-39:C-P^AG, premature termination 33:E->TAA
CUL7cullin 7KIAA0076, dJ20C7.5CUL-7; cullin-7premature termination 252:E->TAG
DAZAP2DAZ associated protein 2PRTBDAZ-associated protein 2; deleted in azoospermia associated protein 2; deleted in azoospermia-associated protein 2; proline-rich transcript in brain; proline-rich transcript, brain-expressed proteinInsert and frame-shift 167-168:F-S^TT
DCBLD1discoidin, CUB and LCCL domain containing 1RP1-94G16.1, dJ94G16.1discoidin, CUB and LCCL domain-containing protein 1Insert and frame-shift 435-436:K-K^G
DCDC5doublecortin domain containing 5hCG_1990724doublecortin domain-containing protein 5premature termination 186:R->TGA
DDIT3DNA-damage-inducible transcript 3CEBPZ, CHOP, CHOP-10, CHOP10, GADD153C/EBP zeta; CCAAT/enhancer-binding protein homologous protein; DDIT-3; DNA damage-inducible transcript 3 protein; c/EBP-homologous protein 10; growth arrest and DNA damage-inducible protein GADD153Insert and frame-shift 18-19:T-D^T
DMBT1deleted in malignant brain tumors 1RP11-481L19.1, GP340, muclinSAG; deleted in malignant brain tumors 1 protein; glycoprotein 340; gp-340; hensin; salivary agglutinin; surfactant pulmonary-associated D-binding proteinInsert and frame-shift 1202-1203:P-H^CC, Insert and frame-shift 555-556:P-I^CA, Insert and frame-shift 663-664:P-I^CA, premature termination 1134:R->TGA, premature termination 1176:R->TGA, premature termination 120:R->TGA, premature termination 1206:W->TGA, premature termination 1236:P->TGA, premature termination 219:I->TGA, premature termination 338:S->TGA, premature termination 348:P->TGA, premature termination 467:S->TGA, premature termination 470:T->TGA, premature termination 479:I->TGA, premature termination 718:I->TGA, premature termination 847:P->TGA, premature termination 966:S->TGA, premature termination 978:I->TGA
DNAH11dynein, axonemal, heavy chain 11CILD7, DNAHBL, DNAHC11, DNHBL, DPL11axonemal beta dynein heavy chain 11; axonemal dynein heavy chain 11; ciliary dynein heavy chain 11; dynein heavy chain 11, axonemal; dynein, axonemal, heavy polypeptide 11; dynein, ciliary, heavy chain 11premature termination 2237:V->TAG
DNAJC4DnaJ (Hsp40) homolog, subfamily C, member 4DANJC4, HSPF2, MCG18dnaJ homolog subfamily C member 4; dnaJ-like protein HSPF2; heat shock 40kD protein 2; multiple endocrine neoplasia type 1 candidate protein number 18Insert and frame-shift 212-213:F-C^C
DNALI1dynein, axonemal, light intermediate chain 1P28, dJ423B22.5, hp28axonemal dynein light intermediate polypeptide 1; dJ423B22.5 (axonemal dynein light chain (hp28)); dynein, axonemal, light intermediate polypeptide 1; inner dynein arm light chain, axonemal; inner dynein arm, homolog of clamydomonasInsert and frame-shift 11-12:Q-G^A
DNHD1dynein heavy chain domain 1UNQ5781/PRO12970, C11orf47, CCDC35, DHCD1, DNHD1LDNHD1 variant protein; coiled-coil domain containing 35; dynein heavy chain domain 1-like protein; dynein heavy chain domain-containing protein 1Insert and frame-shift 2428-2429:R-G^GA
DROSHAdrosha, ribonuclease type IIIETOHI2, HSA242976, RANSE3L, RN3, RNASE3L, RNASENRNase III; drosha, double-stranded RNA-specific endoribonuclease; nuclear RNase III Drosha; p241; protein Drosha; putative protein p241 which interacts with transcription factor Sp1; putative ribonuclease III; ribonuclease 3; ribonuclease III, nuclear; ribonuclease type III, nuclearInsert and frame-shift 348-349:L-E^CCAC
EPHB2EPH receptor B2CAPB, DRT, EK5, EPHT3, ERK, Hek5, PCBC, Tyro5EPH-like kinase 5; developmentally-regulated Eph-related tyrosine kinase; elk-related tyrosine kinase; eph tyrosine kinase 3; ephrin type-B receptor 2; protein-tyrosine kinase HEK5; renal carcinoma antigen NY-REN-47; tyrosine-protein kinase TYRO5; tyrosine-protein kinase receptor EPH-3Insert and frame-shift 1001-1002:R-C^CG, Insert and frame-shift 1037-1038:G-I^T
FAM63Afamily with sequence similarity 63, member ARP11-316M1.5protein FAM63Apremature termination 27:W->TGA, premature termination 47:L->TAG
FOXP3forkhead box P3JM2, AIID, DIETER, IPEX, PIDX, XPIDFOXP3delta7; forkhead box protein P3; immune dysregulation, polyendocrinopathy, enteropathy, X-linked; immunodeficiency, polyendocrinopathy, enteropathy, X-linked; scurfinInsert and frame-shift 335-336:S-S^T, premature termination 345:S->TGA, premature termination 358:W->TGA, premature termination 372:W->TGA, Insert and frame-shift 379-380:E-V^G
FRRS1ferric-chelate reductase 1SDFR2, SDR2SDR-2; stromal cell derived factor receptor 2 homolog; stromal cell-derived receptor 2premature termination 570:L->TGA, premature termination 618:S->TAA
HCFC1R1host cell factor C1 regulator 1 (XPO1 dependent)HPIPHCF-1 beta-propeller interacting protein; HCF-1 beta-propeller-interacting protein; host cell factor C1 regulator 1; host cell factor C1 regulator 1 (XPO1 dependant)premature termination 36:R->TGA
HIF1ANhypoxia inducible factor 1, alpha subunit inhibitorFIH1FIH-1; factor inhibiting HIF-1; factor inhibiting HIF1; hypoxia-inducible factor 1-alpha inhibitor; hypoxia-inducible factor asparagine hydroxylase; peptide-aspartate beta-dioxygenaseInsert and frame-shift 27-28:G-P^GG
HLA-DRB1major histocompatibility complex, class II, DR beta 1XXbac-BPG161M6.1, DRB1, DRw10, HLA-DR1B, HLA-DRB, SS1DW2.2/DR2.2; HLA class II histocompatibility antigen, DR-1 beta chain; MHC class II HLA-DR beta 1 chain; MHC class II HLA-DR-beta cell surface glycoprotein; MHC class II HLA-DRw10-beta; MHC class II antigen; human leucocyte antigen DRB1; lymphocyte antigen DRB1premature termination 96:I->TAG
HNRNPH2heterogeneous nuclear ribonucleoprotein H2 (H')FTP3, HNRPH', HNRPH2, hnRNPH'FTP-3; heterogeneous nuclear ribonucleoprotein H-prime; heterogeneous nuclear ribonucleoprotein H2; hnRNP H'; hnRNP H2Insert and frame-shift 191-192:V-R^GT, premature termination 438:Q->TAG, premature termination 75:R->TGA
HTR3A5-hydroxytryptamine (serotonin) receptor 3A, ionotropic5-HT-3, 5-HT3A, 5-HT3R, 5HT3R, HTR35-HT3-A; 5-hydroxytryptamine receptor 3; 5-hydroxytryptamine receptor 3A; 5HT3 serotonin receptor; serotonin receptor 3A; serotonin-gated ion channel receptorInsert and frame-shift 343-344:T-G^CA, premature termination 319:R->TGA
IGLV4-69immunoglobulin lambda variable 4-69IGLV469, V5-6NApremature termination 55:W->TGA
INTS1integrator complex subunit 1UNQ1821/PRO3434, INT1, NET28NAInsert and frame-shift 1152-1153:L-P^C
ISM2isthmin 2 homolog (zebrafish)PSEC0137, TAIL1, THSD3isthmin-2; thrombospondin and AMOP containing isthmin-like 1; thrombospondin and AMOP domain-containing isthmin-like protein 1; thrombospondin type-1 domain-containing protein 3; thrombospondin, type I domain-containing 3; thrombospondin, type I, domain containing 3premature termination 115:L->TGA, premature termination 119:T->TAG, premature termination 361:E->TAG
ITIH5inter-alpha-trypsin inhibitor heavy chain family, member 5PP14776, ITI-HC5ITI heavy chain H5; inter-alpha (globulin) inhibitor H5; inter-alpha-inhibitor heavy chain 5; inter-alpha-trypsin inhibitor heavy chain H5Insert and frame-shift 934-935:T-W^TT
KCNH6potassium voltage-gated channel, subfamily H (eag-related), member 6ERG2, HERG2, Kv11.2ERG-2; eag related protein 2; eag-related gene member 2; eag-related protein 2; ether-a-go-go related gene potassium channel 2; ether-a-go-go-related gene potassium channel 2; ether-a-go-go-related protein 2; hERG-2; potassium voltage-gated channel subfamily H member 6; voltage-gated potassium channel subunit Kv11.2Insert and frame-shift 772-773:A-G^CG, premature termination 992:W->TAG
KIAA0586KIAA0586Talpid3ortholog of chicken talpid{3}; uncharacterized protein KIAA0586premature termination 517:L->TGA, premature termination 522:Q->TAG
KIF12kinesin family member 12RP11-56P10.3kinesin-like protein KIF12Insert and frame-shift 632-633:C-S^CC, premature termination 464:L->TGA
KMOkynurenine 3-monooxygenase (kynurenine 3-hydroxylase)RP1-317G22.1, dJ317G22.1kynurenine 3-hydroxylase; kynurenine 3-monooxygenaseInsert and frame-shift 466-467:T-T^GG, premature termination 18:L->TAG
KRT28keratin 28KRT25DCK-28; K25D; K28; cytokeratin-28; keratin 25D; keratin, type I cytoskeletal 28; keratin-25D; keratin-28; type I inner root sheath specific keratin 25 irs4; type I inner root sheath-specific keratin-K25irs4Insert and frame-shift 450-451:T-S^CA
KRT4keratin 4CK-4, CK4, CYK4, K4cytokeratin 4; keratin, type II cytoskeletal 4; type-II keratin Kb4Insert and frame-shift 60-61:G-P^CT
LCKlymphocyte-specific protein tyrosine kinaseRP4-675E8.4, LSK, YT16, p56lck, pp58lckT-lymphocyte specific protein tyrosine kinase p56lck; leukocyte C-terminal Src kinase; lymphocyte cell-specific protein-tyrosine kinase; p56(LSTRA) protein-tyrosine kinase; proto-oncogene tyrosine-protein kinase LCK; t cell-specific protein-tyrosine kinase; tyrosine-protein kinase LckInsert and frame-shift 338-339:P-W^TC, premature termination 344:Q->TAG
MC5Rmelanocortin 5 receptorMC2melanocortin receptor 5; melanocortin-5 receptorInsert and frame-shift 313-314:R-G^G
MCCmutated in colorectal cancersMCC1colorectal mutant cancer proteinpremature termination 200:G->TAA, premature termination 473:R->TGA
MORF4L2mortality factor 4 like 2RP5-1055C14.2, MORFL2, MRGXMORF-related gene X protein; MSL3-2 protein; mortality factor 4-like protein 2; protein MSL3-2; transcription factor-like protein MRGXInsert and frame-shift 163-164:A-N^T, premature termination 132:W->TGA
MRPS18Amitochondrial ribosomal protein S18ARP1-261G23.2, HumanS18b, MRP-S18-3, MRPS18-3, S18bmt28S ribosomal protein S18-3, mitochondrial; 28S ribosomal protein S18a, mitochondrial; MRP-S18-a; S18mt-a; mitochondrial ribosomal protein S18-3Insert and frame-shift 132-133:P-R^A, Insert and frame-shift 192-193:L-S^C, premature termination 186:Q->TAG
MYCT1myc target 1MTLCmyc target in myeloid cells 1; myc target in myeloid cells protein 1; myc target protein 1Insert and frame-shift 11-12:K-N^GA, Insert and frame-shift 38-39:F-L^TATT
MYT1myelin transcription factor 1C20orf36, MTF1, MYTI, PLPB1myelin transcription factor I; proteolipid protein binding protein; proteolipid protein-binding proteinpremature termination 618:P->TAG, premature termination 632:S->TAG
NACA2nascent polypeptide-associated complex alpha subunit 2ANAC, NACALIgE autoantigen alpha-nascent polypeptide-associated complex; alpha-NAC protein; hom s 2.01 protein; nascent polypeptide-associated complex subunit alpha-2; nascent polypeptide-associated complex, alpha polypeptide, 2premature termination 197:R->TGA
NCALDneurocalcin deltaNAneurocalcin-deltaInsert and frame-shift 177-178:C-A^AT
NECAB3N-terminal EF-hand calcium binding protein 3RP1-63M2.1, APBA2BP, EFCBP3, NIP1, STIP3, SYTIP2, XB51, dJ63M2.4, dJ63M2.5EF-hand calcium binding protein 3; N-terminal EF-hand calcium-binding protein 3; Nek2-interacting protein 1; X11L-binding protein 51; amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein; amyloid beta A4 protein-binding family A member 2-binding protein; neuronal calcium-binding protein 3; neuronal calcium-binding protein NECAB3; synaptotagmin interacting protein 2; synaptotagmin interacting protein STIP3Insert and frame-shift 272-273:V-P^T
NIPAL4NIPA-like domain containing 4ICHTHYIN, ICHYNNIPA-like protein 4; magnesium transporter NIPA4; non-imprinted in Prader-Willi/Angelman syndrome region protein 4premature termination 13:W->TGA
NOX1NADPH oxidase 1RP1-146H21.1, GP91-2, MOX1, NOH-1, NOH1NADH/NADPH mitogenic oxidase subunit P65-MOX; NADPH oxidase homolog-1; mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating); mitogenic oxidase 1Insert and frame-shift 392-393:V-F^T
OR11G2olfactory receptor, family 11, subfamily G, member 2OR14-34olfactory receptor 11G2; olfactory receptor OR14-34Insert and frame-shift 33-34:R-H^CA
OR2D3olfactory receptor, family 2, subfamily D, member 3OR11-89olfactory receptor 2D3; olfactory receptor OR11-89premature termination 14:K->TAA
OR4C3olfactory receptor, family 4, subfamily C, member 3OR11-98olfactory receptor 4C3; olfactory receptor OR11-98premature termination 26:E->TGA
OR51J1olfactory receptor, family 51, subfamily J, member 1 (gene/pseudogene)OR51J1P, OR51J2NAInsert and frame-shift 102-103:F-P^CT, Insert and frame-shift 188-189:Y-L^TCAT, premature termination 114:G->TGA, premature termination 175:Q->TAA
OR52N5olfactory receptor, family 52, subfamily N, member 5OR11-62, OR52N5Qolfactory receptor 52N5; olfactory receptor OR11-62Insert and frame-shift 14-15:H-V^AT, premature termination 6:S->TAG
OR56B4olfactory receptor, family 56, subfamily B, member 4OR11-67olfactory receptor 56B4; olfactory receptor OR11-67premature termination 128:R->TGA
OR5B17olfactory receptor, family 5, subfamily B, member 17OR11-237, OR5B20PNAInsert and frame-shift 28-29:M-F^T
OR5B3olfactory receptor, family 5, subfamily B, member 3OR11-239, OR5B13, OST129olfactory receptor 5B13; olfactory receptor 5B3; olfactory receptor OR11-239; olfactory receptor, family 5, subfamily B, member 13Insert and frame-shift 164-165:L-S^C
OR9K2olfactory receptor, family 9, subfamily K, member 2OR12-2olfactory receptor 9K2; olfactory receptor OR12-2Insert and frame-shift 22-23:T-M^CC
OTUB1OTU domain, ubiquitin aldehyde binding 1HSPC263, OTB1, OTU1OTU domain-containing ubiquitin aldehyde-binding protein 1; OTU-domain Ubal-binding 1; deubiquitinating enzyme OTUB1; otubain-1; ubiquitin thioesterase OTUB1; ubiquitin-specific protease otubain 1; ubiquitin-specific-processing protease OTUB1premature termination 30:S->TAG
PCSK4proprotein convertase subtilisin/kexin type 4UNQ2757/PRO6496, PC4, SPC5NApremature termination 233:D->TGA
PEX10peroxisomal biogenesis factor 10NALD, PBD6A, PBD6B, RNF69RING finger protein 69; peroxin 10; peroxin-10; peroxisome assembly protein 10; peroxisome biogenesis factor 10premature termination 206:D->TGA, premature termination 220:Q->TAG
PGAM4phosphoglycerate mutase family member 4PGAM-B, PGAM1, PGAM3, dJ1000K24.1phosphoglycerate mutase 4; phosphoglycerate mutase family 3; phosphoglycerate mutase processed protein; probable phosphoglycerate mutase 4Insert and frame-shift 156-157:P-K^G, Insert and frame-shift 190-191:L-Q^G
PGPEP1Lpyroglutamyl-peptidase I-likeNApyroglutamyl-peptidase 1-like proteinInsert and frame-shift 174-175:V-G^A
PHF16PHD finger protein 16JADE3protein Jade-3Insert and frame-shift 807-808:C-H^T
PPM1Nprotein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)NAprobable protein phosphatase 1NInsert and frame-shift 180-181:C-G^A, Insert and frame-shift 295-296:L-G^TG, Insert and frame-shift 326-327:F-P^C
PRR5-ARHGAP8PRR5-ARHGAP8 readthroughNAPRR5-ARHGAP8 fusion; PRR5-ARHGAP8 fusion proteinInsert and frame-shift 601-602:G-L^C
PSD4pleckstrin and Sec7 domain containing 4EFA6B, TICADP-ribosylation factor guanine nucleotide-exchange factor 6; PH and SEC7 domain-containing protein 4; SEC7 homolog; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6B; exchange factor for ARF6 B; pleckstrin homology and SEC7 domain-containing protein 4; telomeric of interleukin-1 cluster proteinInsert and frame-shift 549-550:P-M^CACTA
PSMC1proteasome (prosome, macropain) 26S subunit, ATPase, 1P26S4, S4, p5626S protease regulatory subunit 4; 26S proteasome AAA-ATPase subunit RPT2; proteasome 26S ATPase subunit 1; proteasome 26S subunit ATPase 1; proteasome 26S subunit, ATPase, 1Insert and frame-shift 263-264:G-P^TGGG, Insert and frame-shift 409-410:E-R^TA, Insert and frame-shift 41-42:K-G^GAAG, Insert and frame-shift 419-420:F-K^A, Insert and frame-shift 72-73:L-L^C, premature termination 62:L->TGA
PTPN7protein tyrosine phosphatase, non-receptor type 7RP11-294K24.3, BPTP-4, HEPTP, LC-PTP, LPTP, PTPNIdual specificity phosphatase 1; hematopoietic protein-tyrosine phosphatase; protein-tyrosine phosphatase LC-PTP; protein-tyrosine phosphatase, nonreceptor-type, stress induced; tyrosine-protein phosphatase non-receptor type 7Insert and frame-shift 123-124:L-G^G, Insert and frame-shift 41-42:M-Q^CG, Insert and frame-shift 61-62:W-S^TG, premature termination 33:R->TAA
PVRIGpoliovirus receptor related immunoglobulin domain containingC7orf15poliovirus receptor-related immunoglobulin domain-containing protein; transmembrane protein PVRIGInsert and frame-shift 23-24:H-R^GCCT, premature termination 200:P->TGA
PXDNLperoxidasin homolog (Drosophila)-likePRM1, VPO2cardiac peroxidase; cardiovascular peroxidase 2; peroxidasin homolog-like; peroxidasin-like protein; polysomal ribonuclease 1; vascular peroxidase 2Insert and frame-shift 775-776:Q-P^CG, premature termination 942:T->TGA, Delete and frame-shift 1036:Y->TA, Delete and frame-shift 1116:Y->C
RBMS1RNA binding motif, single stranded interacting protein 1C2orf12, HCC-4, MSSP, MSSP-1, MSSP-2, MSSP-3, SCR2, YC1RNA-binding motif, single-stranded-interacting protein 1; c-myc gene single strand binding protein 2; cervical cancer oncogene 4; single-stranded DNA-binding protein MSSP-1; suppressor of CDC2 with RNA-binding motif 2; suppressor of cdc 2 (cdc13) with RNA binding motif 2Insert and frame-shift 307-308:Y-R^C
RBMXRNA binding motif protein, X-linkedRP11-1114A5.1, HNRPG, RBMXP1, RBMXRT, RNMX, hnRNP-GRNA binding motif protein, X chromosome; RNA-binding motif protein, X chromosome; glycoprotein p43; heterogeneous nuclear ribonucleoprotein G; hnRNP Gpremature termination 338:G->TAG, premature termination 381:R->TGA
ROS1c-ros oncogene 1 , receptor tyrosine kinaseRP1-179P9.1, MCF3, ROS, c-ros-1c-Ros receptor tyrosine kinase; proto-oncogene c-Ros; proto-oncogene c-Ros-1; proto-oncogene tyrosine-protein kinase ROS; receptor tyrosine kinase c-ros oncogene 1; transmembrane tyrosine-specific protein kinase; v-ros UR2 sarcoma virus oncogene homolog 1; v-ros avian UR2 sarcoma virus oncogene homolog 1premature termination 599:E->TAA
RP11-468E2.1NANANApremature termination 208:L->TGA
RP11-480I12.4NANANAInsert and frame-shift 189-190:E-W^GA
RTN2reticulon 2NSP2, NSPL1, NSPLI, SPG12NSP-like protein 1; NSP-like protein I; neuroendocrine-specific protein-like I; reticulon-2Insert and frame-shift 287-288:Y-K^A, Insert and frame-shift 311-312:T-P^G, premature termination 279:K->TAG
RYBPRING1 and YY1 binding proteinAAP1, DEDAF, YEAF1APAP-1; DED-associated factor; RING1 and YY1-binding protein; YY1 and E4TF1 associated factor 1; YY1 and E4TF1-associated factor 1; apoptin-associating protein 1; death effector domain-associated factor; ring1 interactor RYBPInsert and frame-shift 61-62:L-D^C, Insert and frame-shift 78-79:S-P^C
SH2D2ASH2 domain containing 2ARP11-66D17.12-002, F2771, SCAP, TSAD, VRAPSH2 domain protein 2A; SH2 domain-containing protein 2A; T cell specific adapter protein TSAd; T lymphocyte specific adaptor protein; VEGF receptor-associated proteinpremature termination 336:W->TAA, premature termination 388:R->TGA
SLC16A11solute carrier family 16, member 11 (monocarboxylic acid transporter 11)MCT11MCT 11; monocarboxylate transporter 11; solute carrier family 16 (monocarboxylic acid transporters), member 11; solute carrier family 16 member 11Insert and frame-shift 21-22:P-Q^G
SLC38A5solute carrier family 38, member 5PP7194, JM24, SN2, SNAT5, pp7194sodium-coupled neutral amino acid transporter 5; system N transporter 2Insert and frame-shift 30-31:R-G^GG, Insert and frame-shift 72-73:A-M^CC, premature termination 250:Q->TAG, premature termination 313:Y->TAG, premature termination 394:V->TAG
SLC4A9solute carrier family 4, sodium bicarbonate cotransporter, member 9AE4anion exchange protein 4; anion exchanger 4; sodium bicarbonate cotransporter 5; solute carrier family 4, sodium bicarbonate cotransporter-like, member 9Insert and frame-shift 95-96:S-T^C
SPINT1serine peptidase inhibitor, Kunitz type 1UNQ223/PRO256, HAI, HAI1, MANSC2HAI-1; hepatocyte growth factor activator inhibitor type 1; kunitz-type protease inhibitor 1; serine protease inhibitor, Kunitz type 1premature termination 321:G->TAG
STON2stonin 2STN2, STNB, STNB2homolog of stoned B; stoned B homolog 2; stonin-2Insert and frame-shift 881-882:L-P^TT
TAF1CTATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDaMGC:39976, SL1, TAFI110, TAFI95RNA polymerase I-specific TBP-associated factor 110 kDa; SL1, 110kD subunit; TATA box-binding protein-associated factor 1C; TATA box-binding protein-associated factor RNA polymerase I subunit C; TBP-associated factor 1C; transcription factor SL1; transcription initiation factor SL1/TIF-IB subunit CInsert and frame-shift 304-305:S-S^CC, premature termination 284:I->TGA
TNFSF18tumor necrosis factor (ligand) superfamily, member 18RP1-15D23.1, AITRL, GITRL, TL6, hGITRLAITR ligand; GITR ligand; activation-inducible TNF-related ligand; glucocorticoid-induced TNF-related ligand; glucocorticoid-induced TNFR-related protein ligand; tumor necrosis factor ligand superfamily member 18Insert and frame-shift 20-21:S-P^T
TP73tumor protein p73P73p53-like transcription factor; p53-related proteinpremature termination 413:Q->TAA, premature termination 440:R->TGA
TRAF6TNF receptor-associated factor 6, E3 ubiquitin protein ligaseMGC:3310, RNF85E3 ubiquitin-protein ligase TRAF6; RING finger protein 85; TNF receptor-associated factor 6; interleukin-1 signal transducerInsert and frame-shift 481-482:A-L^TG, premature termination 483:R->TAA, premature termination 509:R->TGA
TRMT1LtRNA methyltransferase 1 homolog (S. cerevisiae)-likeMSTP070, C1orf25, MST070, TRM1L, bG120K12.3TRM1 tRNA methyltransferase 1-like; TRM1-like protein; TRMT1-like proteinInsert and frame-shift 718-719:E-M^T
TRMT2BtRNA methyltransferase 2 homolog B (S. cerevisiae)RP3-341D10.3, CXorf34, dJ341D10.3TRM2 homolog; TRM2 tRNA methyltransferase 2 homolog B; tRNA (uracil(54)-C(5))-methyltransferase homolog; tRNA (uracil-5-)-methyltransferase homologInsert and frame-shift 171-172:V-G^A, Insert and frame-shift 340-341:T-G^T, Insert and frame-shift 369-370:V-L^TC, Insert and frame-shift 447-448:V-F^T, premature termination 162:R->TGA, premature termination 192:K->TAA, premature termination 39:W->TAG, premature termination 400:Q->TGA, premature termination 80:W->TGA
TTC19tetratricopeptide repeat domain 192010204O13RikTPR repeat protein 19; tetratricopeptide repeat protein 19, mitochondrialpremature termination 495:L->TGA
TTC23tetratricopeptide repeat domain 23HCC8, HCC-8TPR repeat protein 23; cervical cancer proto-oncogene 8 protein; proto-oncogene 8; tetratricopeptide repeat protein 23premature termination 276:A->TGA, premature termination 284:R->TGA, Delete and frame-shift 366:D->C
TUBA1Ctubulin, alpha 1cTUBA6, bcm948alpha-tubulin 6; tubulin alpha-1C chain; tubulin alpha-6 chain; tubulin, alpha 6Insert and frame-shift 32-33:A-K^AC
USP33ubiquitin specific peptidase 33VDU1VHL-interacting deubiquitinating enzyme 1; deubiquitinating enzyme 33; pVHL-interacting deubiquitinating enzyme 1; ubiquitin carboxyl-terminal hydrolase 33; ubiquitin thioesterase 33; ubiquitin thiolesterase 33; ubiquitin-specific-processing protease 33Insert and frame-shift 30-31:N-K^A
VSIG1V-set and immunoglobulin domain containing 1RP5-889N15.1, 1700062D20Rik, GPA34, dJ889N15.1V-set and immunoglobulin domain-containing protein 1; cell surface A33 antigen; glycoprotein A34Insert and frame-shift 98-99:A-R^T
WNK1WNK lysine deficient protein kinase 1HSAN2, HSN2, KDP, PRKWNK1, PSK, p65WNK lysine deficient protein kinase 1 isoform; erythrocyte 65 kDa protein; prostate-derived sterile 20-like kinase; protein kinase with no lysine 1; serine/threonine-protein kinase WNK1Insert and frame-shift 243-244:T-T^C, Insert and frame-shift 724-725:V-P^C, Insert and frame-shift 740-741:L-F^C, Insert and frame-shift 759-760:C-P^C
ZNF135zinc finger protein 135ZNF61, ZNF78L1, pHZ-17, pT3zinc finger protein 135 (clone pHZ-17); zinc finger protein 61; zinc finger protein 78-like 1 (pT3)premature termination 100:K->TAA
ZNF260zinc finger protein 260OZRF1, PEX1, ZFP260zfp-260Insert and frame-shift 23-24:G-E^GA
ZNF623zinc finger protein 623NANAInsert and frame-shift 20-21:T-E^CC
ZNF644zinc finger protein 644BM-005, MYP21, NatF, ZEP-2zinc finger motif enhancer binding protein 2Insert and frame-shift 750-751:I-K^A, premature termination 610:S->TAA, premature termination 625:K->TAA
ZNF677zinc finger protein 677NAhypothetical protein MGC48625Insert and frame-shift 544-545:K-H^A
ZSWIM1zinc finger, SWIM-type containing 1C20orf162zinc finger SWIM domain-containing protein 1; zinc finger, SWIM domain containing 1premature termination 26:P->TAG
EMR3egf-like module containing, mucin-like, hormone receptor-like 3UNQ683/PRO1562EGF-like module receptor 3; EGF-like module-containing mucin-like hormone receptor-like 3; egf-like module-containing mucin-like receptor 3Delete and frame-shift 633:G->GC
FASTKD2FAST kinase domains 2KIAA0971FAST kinase domain-containing protein 2Delete and frame-shift 10:S->A
OR10R2olfactory receptor, family 10, subfamily R, member 2OR1-8, OR10R2Qolfactory receptor 10R2; olfactory receptor OR1-8Ipremature termination 29:^TAG
TNFSF13Btumor necrosis factor (ligand) superfamily, member 13bRP11-153I24.1, BAFF, BLYS, CD257, DTL, TALL-1, TALL1, THANK, TNFSF20, ZTNF4ApoL related ligand TALL-1; B-cell-activating factor; B-lymphocyte stimulator; Delta4 BAFF; TNF and ApoL-related leukocyte expressed ligand 1; TNF homolog that activates apoptosis; delta BAFF; dendritic cell-derived TNF-like molecule; tumor necrosis factor (ligand) superfamily, member 20; tumor necrosis factor ligand superfamily member 13B; tumor necrosis factor-like protein ZTNF4Delete and frame-shift 20:E->AA
OR6V1olfactory receptor, family 6, subfamily V, member 1GPR138olfactory receptor 6V1; olfactory receptor OR7-3Delete and frame-shift 300:Q->CG
ATP7BATPase, Cu++ transporting, beta polypeptideRP11-327P2.1, PWD, WC1, WD, WNDATPase, Cu(2+)- transporting, beta polypeptide; Wilson disease-associated protein; copper pump 2; copper-transporting ATPase 2Delete and frame-shift 1127:L->CA
C1RLcomplement component 1, r subcomponent-likeC1RL1, C1RLP, C1r-LP, CLSPaC1r-like protein; C1r-like serine protease analog protein; complement C1r subcomponent-like protein; complement C1r-like proteinaseDelete and frame-shift 8:G->G
ZNF541zinc finger protein 541NANApremature termination 951:Q->TAG
EXOC7exocyst complex component 72-5-3p, EX070, EXO70, EXOC1, Exo70p, YJL085Wexocyst complex component Exo70Delete and frame-shift 306:T->C
HELThelt bHLH transcription factorHCM1228, HESL, Mgn, bHLHb44HES/HEY-like transcription factor; Heslike; Hey-like transcription factor; Hey-like transcriptional repressor; Megane bHLH factor; hairy and enhancer of split-related protein HELTInsert and frame-shift 47-48:L-V^T
KLHDC1kelch domain containing 1MSTP025, MST025kelch domain-containing protein 1Delete and frame-shift 397:E->A
AKT1S1AKT1 substrate 1 (proline-rich)Lobe, PRAS4040 kDa proline-rich AKT substrate; proline-rich AKT1 substrate 1; proline-rich Akt substrate, 40 kDaInsert and frame-shift 9-10P-M^CC
ZBTB7Bzinc finger and BTB domain containing 7BRP11-307C12.9, THPOK, ZBTB15, ZFP-67, ZFP67, ZNF857B, c-KROX, hcKROXT-helper-inducing POZ/Krueppel-like factor; krueppel-related zinc finger protein cKrox; zinc finger and BTB domain containing 15; zinc finger and BTB domain-containing protein 7B; zinc finger protein 67 homolog; zinc finger protein 857B; zinc finger protein Th-POKDelete and frame-shift 12:D->T, Delete and frame-shift 113:T->CG
CASRcalcium-sensing receptorCAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, NSHPT, PCAR1extracellular calcium-sensing receptor; parathyroid Ca(2+)-sensing receptor 1; parathyroid cell calcium-sensing receptorDelete and frame-shift 545:L->CC
ARHGAP5Rho GTPase activating protein 5GFI2, RhoGAP5, p190-B, p190BRhoGAPgrowth factor independent 2; p100 RasGAP-associated p105 protein; p105 RhoGAP; rho GTPase-activating protein 5; rho-type GTPase-activating protein 5Insert and frame-shift 1162-1163: S-K^A