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 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 ENST00000373381.4 - 37 5922 c.5746A>G c.(5746-5748)Aac>Gac p.N1916D CSMD2_ENST00000373380.1_Missense_Mutation_p.N789D|CSMD2_ENST00000373377.1_Missense_Mutation_p.N15D|CSMD2_ENST00000373388.2_Missense_Mutation_p.N15D NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 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 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 ENST00000262348.4 - 5 982 c.729C>T c.(727-729)ccC>ccT p.P243P WLS_ENST00000354777.2_Silent_p.P241P|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Silent_p.P243P|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Silent_p.P152P|GNG12-AS1_ENST00000413628.1_RNA NM_024911.6 NP_079187.3 Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator 243 multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi 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 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 ENST00000176183.5 + 2 401 c.389G>T c.(388-390)aGc>aTc p.S130I DRD4_ENST00000528733.1_3'UTR NM_000797.3 NP_000788.2 P21917 DRD4_HUMAN dopamine receptor D4 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 calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|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 dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding 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 0.000157383 0.000157383 1 1 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 ENST00000304685.3 + 6 1105 c.644C>T c.(643-645)cCg>cTg p.P215L RGL1_ENST00000360851.3_Missense_Mutation_p.P180L|RGL1_ENST00000539189.1_Missense_Mutation_p.P180L|RGL1_ENST00000367531.1_Missense_Mutation_p.P215L|RGL1_ENST00000536277.1_Missense_Mutation_p.P178L NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 180 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity 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 KRT6A 3853 broad.mit.edu 37 12 52885509 52885509 + 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.chr12:52885509C>T ENST00000330722.6 - 2 620 c.552G>A c.(550-552)ctG>ctA p.L184L NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 184 Coil 1A.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TCTGCTGCTCCAGGAACCGCA 0.537000 5 61 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 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.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 6 49 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 ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A 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.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 46 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 ENST00000599957.1 - 3 1112 c.915C>T c.(913-915)cgC>cgT p.R305R LRRC4B_ENST00000389201.3_Silent_p.R305R Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 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 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 ENST00000397928.1 + 14 2569 c.2124G>A c.(2122-2124)gtG>gtA p.V708V TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.V708V|TRPM2_ENST00000397932.2_Silent_p.V708V|TRPM2_ENST00000300481.9_Silent_p.V688V NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 708 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 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A 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.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 25 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 ENST00000243167.8 + 2 369 c.285C>G c.(283-285)gcC>gcG p.A95A FAAH_ENST00000493735.1_3'UTR NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 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 ZNF680 340252 broad.mit.edu 37 7 63982234 63982234 + Missense_Mutation SNP G G 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.chr7:63982234G>C ENST00000309683.6 - 4 1049 c.898C>G c.(898-900)Cac>Gac p.H300D NM_178558.4 NP_848653.2 Q8NEM1 ZN680_HUMAN zinc finger protein 680 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 27 Lung NSC(55;0.118)|all_lung(88;0.243) AAGGCTTTGTGACATTCATCA 0.353000 3 13 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 ENST00000428974.2 + 5 517 c.459C>T c.(457-459)tgC>tgT p.C153C FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Intron|FUK_ENST00000288078.6_Intron Q8N0W3 FUK_HUMAN fucokinase 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 ENST00000389420.3 - 21 3076 c.3077C>T c.(3076-3078)gCt>gTt p.A1026V ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A1026V|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.A180V NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 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 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 ENST00000255977.2 - 6 1253 c.1029A>T c.(1027-1029)ccA>ccT p.P343P MKRN1_ENST00000437223.2_Silent_p.P77P|MKRN1_ENST00000474576.1_Silent_p.P279P NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 343 ligase activity|nucleic acid binding|protein binding|zinc ion binding 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 ENST00000343546.4 + 6 1527 c.1159C>G c.(1159-1161)Ccc>Gcc p.P387A P4HTM_ENST00000383729.4_Intron NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 0 Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid 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 ENST00000528880.2 - 1 285 c.131G>A c.(130-132)gGc>gAc p.G44D HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 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 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 ENST00000333973.2 + 1 744 c.655C>A c.(655-657)Ctg>Atg p.L219M NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 219 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 2.39187e-15 2.47435e-15 1 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA 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.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 24 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + 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.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 8 146 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 ENST00000267584.4 + 5 555 c.511G>A c.(511-513)Gtt>Att p.V171I AK7_ENST00000554313.1_3'UTR NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 171 cell projection organization cytosol adenylate kinase activity|ATP binding|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 RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes 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.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 6 11 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes 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.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 13 20 --- --- --- --- RP11-274B21.1 0 broad.mit.edu 37 7 128210235 128210236 + RNA DEL TT TT - 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.chr7:128210235_128210236delTT ENST00000605862.1 + 0 189 gttttagttcttTTTTTTTTTT 0.441 2 4 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 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.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 10 10 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - 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.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 7 56 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822564 72822566 + In_Frame_Del DEL TGC TGC - 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.chr16:72822564_72822566delTGC ENST00000268489.5 - 10 10281_10283 c.9609_9611delGCA c.(9607-9612)caa>ca p.QQ3203del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3203 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cacctgtggttgctgctgctgct 0.650 9 234 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency 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.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 297 --- --- --- ---