Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TRPM2 7226 broad.mit.edu 37 21 45819240 45819240 + Silent SNP G G A TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr21:45819240G>A uc010gpt.1 + 13 2224 c.2124G>A c.(2122-2124)gtG>gtA p.V708V TRPM2_uc002zet.1_Silent_p.V708V|TRPM2_uc002zeu.1_Silent_p.V708V|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.V708V|TRPM2_uc002zex.1_Silent_p.V494V|TRPM2_uc002zey.1_Silent_p.V221V NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 708 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TCACCCGCGTGTCCGAGGCCT 0.632000 14 73 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579597 55579597 + Missense_Mutation SNP C C A TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr11:55579597C>A uc001nhw.1 + 0 655 c.655C>A c.(655-657)Ctg>Atg p.L219M NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CACCTCCTACCTGCTAATTCT 0.502000 21 63 0 0 1 0 0 FUK 197258 broad.mit.edu 37 16 70500883 70500883 + Silent SNP C C T TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr16:70500883C>T uc010vmb.1 + 4 517 c.459C>T c.(457-459)tgC>tgT p.C153C FUK_uc002eyy.3_Intron|FUK_uc010cft.3_Intron|FUK_uc002eyz.3_Intron Q8N0W3 FUK_HUMAN Homo sapiens fucokinase (FUK), mRNA. 609 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) CCTGGGACTGCCTTCCTTCGT 0.647000 7 35 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826126 43826126 + Missense_Mutation SNP G G A TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr12:43826126G>A uc010skx.2 - 20 3077 c.3077C>T c.(3076-3078)gCt>gTt p.A1026V ADAMTS20_uc001rno.1_Missense_Mutation_p.A180V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.A180V NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1026 TSP type-1 5. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTCACTAGCAGCCCAACTGGG 0.378000 3 25 0 0 1 0 0 DRD4 1815 broad.mit.edu 37 11 639536 639536 + Missense_Mutation SNP G G T TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr11:639536G>T uc001lqp.2 + 1 389 c.389G>T c.(388-390)aGc>aTc p.S130I NM_000797 NP_000788 P21917 DRD4_HUMAN Homo sapiens dopamine receptor D4 (DRD4), mRNA. 130 activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane SH3 domain binding|dopamine D4 receptor activity|drug binding|potassium channel regulator activity NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) TGCGCCATCAGCGTGGACAGG 0.776000 7 28 0 0 1 0 0 MKRN1 23608 broad.mit.edu 37 7 140155658 140155658 + Silent SNP T T A TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr7:140155658T>A uc003vvt.2 - 5 1254 c.1029A>T c.(1027-1029)ccA>ccT p.P343P MKRN1_uc003vvs.2_Silent_p.P279P|MKRN1_uc011krd.1_Silent_p.P77P NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA. 343 ligase activity|nucleic acid binding|protein binding|zinc ion binding p.I342T(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) AGTACTCACTTGGAATGACAA 0.468000 7 24 0 0 1 0 0 P4HTM 54681 broad.mit.edu 37 3 49042565 49042565 + Missense_Mutation SNP C C G TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr3:49042565C>G uc003cvh.3 + 5 1508 c.1159C>G c.(1159-1161)Ccc>Gcc p.P387A P4HTM_uc003cvg.3_Intron|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177938 NP_808807 Q9NXG6 P4HTM_HUMAN Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA. 0 Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) TGTGGGCGTGCCCCTTGGCAT 0.597000 9 38 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123201154 123201154 + Missense_Mutation SNP C C T TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr12:123201154C>T uc001ucy.4 - 0 286 c.131G>A c.(130-132)gGc>gAc p.G44D HCAR1_uc001ucw.1_Intron NM_006018 NP_006009 P49019 HCAR3_HUMAN Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA. 44 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) AAGGCCATTGCCCAGAAGCCC 0.502000 4 20 0 0 1 0 0 FAAH 2166 broad.mit.edu 37 1 46867852 46867852 + Silent SNP C C G TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr1:46867852C>G uc001cpu.2 + 1 367 c.285C>G c.(283-285)gcC>gcG p.A95A NM_001441 NP_001432 O00519 FAAH1_HUMAN Homo sapiens fatty acid amide hydrolase (FAAH), mRNA. 95 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) CCCCTGAGGCCGTGCTCTTCA 0.632000 3 5 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 5 20 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183849863 183849863 + Missense_Mutation SNP C C T TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr1:183849863C>T uc001gqm.3 + 5 1105 c.644C>T c.(643-645)cCg>cTg p.P215L RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.P178L|RGL1_uc010poh.2_Missense_Mutation_p.P178L|RGL1_uc001gqo.3_Missense_Mutation_p.P180L|RGL1_uc010poi.2_Missense_Mutation_p.P180L NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA. 180 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ral guanyl-nucleotide exchange factor activity|protein binding breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CGGATGATGCCGGGCTCTGAC 0.488000 7 39 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34087848 34087848 + Missense_Mutation SNP T T C TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr1:34087848T>C uc001bxm.1 - 36 5923 c.5746A>G c.(5746-5748)Aac>Gac p.N1916D CSMD2_uc001bxn.1_Missense_Mutation_p.N1876D|CSMD2_uc001bxo.1_Missense_Mutation_p.N789D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1876 Sushi 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAGGTGCTGTTCAGAAGGGCA 0.512000 10 43 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022055 51022055 + Silent SNP G G A TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr19:51022055G>A uc002pss.3 - 2 1052 c.915C>T c.(913-915)cgC>cgT p.R305R NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 305 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TGAGGTGCACGCGCTCGAGGC 0.642000 13 107 0 0 1 0 0 WLS 79971 broad.mit.edu 37 1 68619274 68619274 + Silent SNP G G A TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr1:68619274G>A uc001dee.3 - 4 1025 c.723C>T c.(721-723)ccC>ccT p.P241P GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.P243P|WLS_uc001deg.2_Silent_p.P152P|WLS_uc009wbf.1_Silent_p.P198P|WLS_uc021oor.1_Silent_p.P198P NM_001002292 NP_001002292 Q5T9L3 WLS_HUMAN Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA. 243 Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway Golgi membrane|cytoplasmic vesicle membrane|integral to membrane signal transducer activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1) 20 TGAAGATGCTGGGCGTAAGGA 0.483000 9 20 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96887171 96887171 + Missense_Mutation SNP G G A TCGA-E8-A436-01A-12D-A23U-08 TCGA-E8-A436-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 880059a5-6b55-4711-973d-103913cabb97 5179f570-8244-445b-af30-f2f271d41214 g.chr14:96887171G>A uc001yfn.2 + 4 555 c.511G>A c.(511-513)Gtt>Att p.V171I NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 171 cell projection organization cytosol ATP binding|adenylate kinase activity|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGATTCTGAGGTTCCATTCAC 0.343000 5 9 0 0 1 0 0