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 PLCH2 9651 broad.mit.edu 37 1 2411404 2411404 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:2411404G>A uc001aji.1 + 2 777 c.503G>A c.(502-504)cGc>cAc p.R168H PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank NM_014638 NP_055453 O75038 PLCH2_HUMAN Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA. 168 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) CGCCGCCAGCGCACCAGGGAC 0.687 NCDN 23154 broad.mit.edu 37 1 36028235 36028235 + Splice_Site SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:36028235G>A uc001bza.3 + 5 1512 c.1385_splice c.e5+1 p.R462_splice NCDN_uc001bzb.3_Splice_Site_p.R462_splice|NCDN_uc001bzc.3_Splice_Site_p.R445_splice NM_001014839 NP_001014841 Q9UBB6 NCDN_HUMAN Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA. 462 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACGCTCTCCGGTGAGTCTGTA 0.597 KIAA0754 643314 broad.mit.edu 37 1 39876294 39876294 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:39876294G>A uc009vvt.1 + 0 1119 c.357G>A c.(355-357)cgG>cgA p.R119R MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 0 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAGAAGGCGGCCAAATGCAG 0.478 C1orf173 127254 broad.mit.edu 37 1 75108729 75108729 + Missense_Mutation SNP C C A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:75108729C>A uc001dgg.3 - 3 516 c.297G>T c.(295-297)gaG>gaT p.E99D NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 99 p.K98K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTGGATTCGCTCCTTCCTAG 0.323 ZZZ3 26009 broad.mit.edu 37 1 78098001 78098001 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:78098001G>A uc001dhq.3 - 4 1515 c.1039C>T c.(1039-1041)Cca>Tca p.P347S ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P347S|ZZZ3_uc001dhp.3_Missense_Mutation_p.P347S NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA. 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P347S(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 CCGGAGGCTGGCATACTCTCA 0.443 ANKRD35 148741 broad.mit.edu 37 1 145558841 145558841 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:145558841C>T uc001eob.1 + 6 568 c.460C>T c.(460-462)Cgt>Tgt p.R154C ANKRD35_uc010oyx.1_5'UTR NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 154 p.R154C(2)|p.G153G(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCAGGATGGACGTACACCCCT 0.557 SPRR1A 6698 broad.mit.edu 37 1 152957774 152957774 + Missense_Mutation SNP A A T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:152957774A>T uc021ozn.1 + 0 68 c.68A>T c.(67-69)cAa>cTa p.Q23L SPRR1A_uc009wnu.2_Missense_Mutation_p.Q23L|SPRR1A_uc001faw.3_Missense_Mutation_p.Q23L NM_005987 NP_005978 P35321 SPR1A_HUMAN Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA. 23 2 X 12 AA approximate repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1) 7 Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGGTGAAACAACCTTGCCAG 0.572 C1orf116 79098 broad.mit.edu 37 1 207195575 207195575 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:207195575C>T uc001hfd.2 - 3 1793 c.1534G>A c.(1534-1536)Ggc>Agc p.G512S C1orf116_uc009xcb.1_Missense_Mutation_p.G266S|C1orf116_uc021pii.1_Missense_Mutation_p.G266S NM_023938 NP_001077393 Q9BW04 SARG_HUMAN Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA. 512 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) AAGAAGGAGCCCTTTCCCAGA 0.567 HIST3H3 8290 broad.mit.edu 37 1 228612678 228612678 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:228612678G>A uc001hsx.1 - 0 349 c.349C>T c.(349-351)Cgg>Tgg p.R117W NM_003493 NP_003484 Q16695 H31T_HUMAN Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA. 117 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|lung(2)|prostate(2)|skin(1) 6 Prostate(94;0.0724) ATGGTGACCCGTTTGGCATGG 0.627 HIST3H2A 92815 broad.mit.edu 37 1 228645127 228645127 + Silent SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:228645127C>T uc001hsy.3 - 0 434 c.392G>A c.(391-393)tGa>tAa p.*131* HIST3H2BB_uc001hsz.3_5'Flank NM_033445 NP_254280 Q7L7L0 H2A3_HUMAN Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA. 0 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|lung(3)|ovary(1) 5 Prostate(94;0.183) cgggcggccTCACTTGCCCTT 0.627 OR2C3 81472 broad.mit.edu 37 1 247695195 247695195 + Missense_Mutation SNP A A G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr1:247695195A>G uc021pmb.1 - 0 619 c.619T>C c.(619-621)Ttt>Ctt p.F207L C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.F207L NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGGACAACAAAGACAAAGCTG 0.532 IDE 3416 broad.mit.edu 37 10 94267958 94267958 + Missense_Mutation SNP C C G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr10:94267958C>G uc001kia.3 - 7 1141 c.1065G>C c.(1063-1065)tgG>tgC p.W355C NM_004969 NP_004960 P14735 IDE_HUMAN Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA. 355 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAGTATTAACCCAGCCTGCAA 0.358 SLK 9748 broad.mit.edu 37 10 105762134 105762134 + Missense_Mutation SNP C C A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr10:105762134C>A uc001kxo.1 + 8 1232 c.1198C>A c.(1198-1200)Cat>Aat p.H400N SLK_uc001kxp.1_Missense_Mutation_p.H400N NM_014720 NP_055535 Q9H2G2 SLK_HUMAN Homo sapiens STE20-like kinase (SLK), mRNA. 400 Glu-rich. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TATTAATGAACATATTACCGA 0.388 SIRT3 23410 broad.mit.edu 37 11 233173 233173 + Missense_Mutation SNP A A C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr11:233173A>C uc001lok.4 - 2 550 c.516T>G c.(514-516)gaT>gaG p.D172E SIRT3_uc001loj.4_Missense_Mutation_p.D30E|SIRT3_uc010qvm.2_Missense_Mutation_p.D108E|SIRT3_uc010qvn.2_Missense_Mutation_p.D91E|SIRT3_uc010qvo.2_Missense_Mutation_p.D172E|SIRT3_uc010qvp.2_Missense_Mutation_p.D172E|SIRT3_uc010qvq.2_Missense_Mutation_p.D30E|SIRT3_uc009ybt.1_Non-coding_Transcript NM_012239 NP_001017524 Q9NTG7 SIRT3_HUMAN Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 172 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) GGTACGGGAGATCGTACTGCT 0.532 OR51M1 390059 broad.mit.edu 37 11 5411176 5411176 + Missense_Mutation SNP C C G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr11:5411176C>G uc010qzc.2 + 0 570 c.548C>G c.(547-549)tCt>tGt p.S183C HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 183 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACTGTGGATCTGTGGTCCTC 0.517 VWCE 220001 broad.mit.edu 37 11 61048379 61048379 + Silent SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr11:61048379C>T uc001nra.3 - 7 1395 c.1116G>A c.(1114-1116)agG>agA p.R372R VWCE_uc001nrb.3_Non-coding_Transcript NM_152718 NP_689931 Q96DN2 VWCE_HUMAN Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA. 372 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 ACTCAGGGCCCCTGGGTGAGG 0.677 SCNN1A 6337 broad.mit.edu 37 12 6463925 6463925 + Nonsense_Mutation SNP G G T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:6463925G>T uc001qnw.3 - 5 1674 c.1410C>A c.(1408-1410)taC>taA p.Y470* SCNN1A_uc001qnv.3_Nonsense_Mutation_p.Y111*|SCNN1A_uc001qnx.3_Nonsense_Mutation_p.Y411*|SCNN1A_uc010sfb.2_Nonsense_Mutation_p.Y434* NM_001159576 NP_001029 P37088 SCNNA_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA. 411 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) CCTGCTGTGTGTACTTTGAAG 0.557 CLEC1A 51267 broad.mit.edu 37 12 10224014 10224014 + Missense_Mutation SNP C C T rs147882348 by1000genomes TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:10224014C>T uc001qxb.3 - 5 845 c.761G>A c.(760-762)cGt>cAt p.R254H CLEC1A_uc001qxd.3_Missense_Mutation_p.R211H|CLEC1A_uc010sgx.2_Missense_Mutation_p.R152H NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA. 254 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 ACAGACACAACGCTTCAATTC 0.488 KRT18 3875 broad.mit.edu 37 12 53343221 53343221 + Silent SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:53343221C>T uc001sbe.3 + 1 333 c.264C>T c.(262-264)aaC>aaT p.N88N KRT18_uc009zmn.2_Silent_p.N88N|KRT18_uc001sbg.3_Silent_p.N88N|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron NM_199187 NP_954657 P05783 K1C18_HUMAN Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA. 88 Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 11 AAAGCCTGAACGACCGCCTGG 0.647 PTPRR 5801 broad.mit.edu 37 12 71094985 71094985 + Silent SNP G G T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:71094985G>T uc001swi.2 - 6 1540 c.1126C>A c.(1126-1128)Cga>Aga p.R376R PTPRR_uc001swh.2_Silent_p.R131R|PTPRR_uc009zrs.3_Silent_p.R170R|PTPRR_uc010stq.2_Silent_p.R264R|PTPRR_uc010str.1_Silent_p.R225R NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 376 in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GTGAGAATTCGGCTGGCTGAC 0.458 WSCD2 9671 broad.mit.edu 37 12 108600179 108600179 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:108600179C>T uc001tms.3 + 3 1241 c.497_splice c.e3+1 p.R166_splice WSCD2_uc001tmt.3_Splice_Site_p.R166_splice NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 166 WSC 1. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CTGTGCTGAACGGTAGGGTCC 0.527 TMEM132D 121256 broad.mit.edu 37 12 130184469 130184469 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr12:130184469C>T uc009zyl.1 - 1 1182 c.854G>A c.(853-855)cGt>cAt p.R285H NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 285 integral to membrane p.L284R(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTTGTCCAGACGCAGTTCTCT 0.522 FAM70B 348013 broad.mit.edu 37 13 114502323 114502323 + Silent SNP C C G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr13:114502323C>G uc001vuh.3 + 4 381 c.354C>G c.(352-354)ccC>ccG p.P118P NM_182614 NP_872420 Q8WV15 FA70B_HUMAN Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA. 118 integral to membrane upper_aerodigestive_tract(1) 1 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) AACCGAGGCCCCTCACCACGG 0.542 OR11H6 122748 broad.mit.edu 37 14 20692418 20692418 + Missense_Mutation SNP C C A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr14:20692418C>A uc010tlc.2 + 0 550 c.550C>A c.(550-552)Ctt>Att p.L184I NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA. 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TATCTCCCAACTTCCCTTCTG 0.507 RPL10L 140801 broad.mit.edu 37 14 47120841 47120841 + Frame_Shift_Del DEL G G - TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr14:47120841delG uc001wwg.3 - 0 188 c.99delC c.(97-99)atcfs p.I33fs NM_080746 NP_542784 Q96L21 RL10L_HUMAN Homo sapiens ribosomal protein L10-like (RPL10L), mRNA. 33 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome p.I33I(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 CCAGGTCAAAGATGCGGATCT 0.537 MAPKBP1 23005 broad.mit.edu 37 15 42106769 42106769 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr15:42106769G>A uc001zok.4 + 10 1306 c.1020G>A c.(1018-1020)gcG>gcA p.A340A MAPKBP1_uc010bci.3_Silent_p.A334A|MAPKBP1_uc010udb.2_Silent_p.A222A|MAPKBP1_uc001zoj.4_Silent_p.A334A|MAPKBP1_uc010bcj.3_Intron|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Intron NM_001128608 NP_001122080 O60336 MABP1_HUMAN Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA. 340 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CTGGAGTGGCGAATGCCAGGT 0.488 MAPKBP1 23005 broad.mit.edu 37 15 42111074 42111074 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr15:42111074G>A uc001zok.4 + 20 2514 c.2228G>A c.(2227-2229)cGt>cAt p.R743H MAPKBP1_uc010bci.3_Missense_Mutation_p.R737H|MAPKBP1_uc010udb.2_Missense_Mutation_p.R576H|MAPKBP1_uc001zoj.4_Missense_Mutation_p.R737H|MAPKBP1_uc010bcj.3_Missense_Mutation_p.R244H|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.R244H NM_001128608 NP_001122080 O60336 MABP1_HUMAN Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA. 743 p.R737H(1) breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) ATGAGGCAGCGTCTGGCCGAG 0.602 ATP8B4 79895 broad.mit.edu 37 15 50339659 50339659 + Missense_Mutation SNP A A T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr15:50339659A>T uc001zxu.3 - 3 232 c.90T>A c.(88-90)gaT>gaA p.D30E ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 30 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.D30D(2)|p.A29V(1)|p.A29A(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGATACGATTATCCTGGAAAA 0.373 PTX4 390667 broad.mit.edu 37 16 1536134 1536134 + Missense_Mutation SNP C C T rs149572258 TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr16:1536134C>T uc010uvf.2 - 2 1228 c.1228G>A c.(1228-1230)Gac>Aac p.D410N NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN Homo sapiens pentraxin 4, long (PTX4), mRNA. 415 Pentaxin. extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 TCGGAGCTGTCGAATCCGCCC 0.652 SRRM2 23524 broad.mit.edu 37 16 2817214 2817214 + Missense_Mutation SNP G G C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr16:2817214G>C uc002crk.3 + 10 7234 c.6685G>C c.(6685-6687)Gcc>Ccc p.A2229P SRRM2_uc002crj.1_Missense_Mutation_p.A2133P|SRRM2_uc002crl.1_Missense_Mutation_p.A2229P|SRRM2_uc010bsu.1_Missense_Mutation_p.A2133P NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 2229 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 AGCCAACCTTGCCAGCAGGAT 0.612 DNAH3 55567 broad.mit.edu 37 16 21033373 21033373 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr16:21033373C>T uc010vbe.2 - 39 5696 c.5696G>A c.(5695-5697)cGc>cAc p.R1899H NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1899 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R1899C(1) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACAATGAAGGCGACCAAATTC 0.458 POLR2A 5430 broad.mit.edu 37 17 7404279 7404279 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:7404279G>A uc002ghf.4 + 11 2288 c.1902G>A c.(1900-1902)gaG>gaA p.E634E NM_000937 NP_000928 P24928 RPB1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA. 634 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) agaatggggagctgatcatgg 0.557 TP53 7157 broad.mit.edu 37 17 7578541 7578541 + Missense_Mutation SNP A A G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:7578541A>G uc002gim.2 - 4 583 c.389T>C c.(388-390)cTc>cCc p.L130P TP53_uc002gig.1_Missense_Mutation_p.L130P|TP53_uc002gih.3_Missense_Mutation_p.L130P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130P|TP53_uc010cnh.1_Missense_Mutation_p.L130P|TP53_uc002gij.2_Missense_Mutation_p.L130P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37P|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91P NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 130 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L130R(14)|p.Y126_K132delYSPALNK(12)|p.L130V(11)|p.L130F(10)|p.0?(8)|p.L130H(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130fs*41(4)|p.S127_Q136del10(2)|p.A129_N131delALN(2)|p.L130P(2)|p.L130fs*19(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.N131fs*27(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.Y126fs*11(1)|p.A129_L130insXX(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.A129G(1)|p.A129D(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATCTTGTTGAGGGCAGGGGA 0.557 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) C17orf39 79018 broad.mit.edu 37 17 17943061 17943061 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:17943061G>A uc002gsg.1 + 0 451 c.283G>A c.(283-285)Ggt>Agt p.G95S ATPAF2_uc002gsd.1_5'Flank|ATPAF2_uc002gse.1_5'Flank|ATPAF2_uc010vxf.1_5'Flank NM_024052 NP_076957 Q8IVV7 CQ039_HUMAN Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA. 95 Pro-rich. large_intestine(2)|lung(1)|ovary(2)|skin(1) 6 all_neural(463;0.228) CCCGCCGGCCGGTGCCTCCGC 0.766 KCNJ18 3768 broad.mit.edu 37 17 21319772 21319772 + Missense_Mutation SNP A A T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:21319772A>T uc021tss.1 + 2 1488 c.1118A>T c.(1117-1119)aAc>aTc p.N373I KCNJ18_uc002gyv.1_Missense_Mutation_p.N373I|KCNJ18_uc021tst.1_Missense_Mutation_p.N373I NM_001194958 NP_001181887 B7U540 IRK18_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA. 373 integral to membrane inward rectifier potassium channel activity CCCAGCGCCAACTCCTTCTGC 0.622 ACACA 31 broad.mit.edu 37 17 35614745 35614745 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:35614745C>T uc002hnm.3 - 13 1786 c.1595G>A c.(1594-1596)cGc>cAc p.R532H ACACA_uc002hnk.3_Missense_Mutation_p.R454H|ACACA_uc002hnl.3_Missense_Mutation_p.R474H|ACACA_uc002hnn.3_Missense_Mutation_p.R532H|ACACA_uc002hno.3_Missense_Mutation_p.R569H|ACACA_uc010cuz.3_Missense_Mutation_p.R532H NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 532 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTTATTGCTGCGGAAATTTAG 0.413 KRT33A 3883 broad.mit.edu 37 17 39503142 39503142 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:39503142C>T uc002hwk.1 - 4 867 c.830G>A c.(829-831)cGc>cAc p.R277H NM_004138 NP_004129 O76009 KT33A_HUMAN Homo sapiens keratin 33A (KRT33A), mRNA. 277 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) ATTGACCGTGCGTCTCAGCTC 0.582 JUP 3728 broad.mit.edu 37 17 39681243 39681243 + Missense_Mutation SNP G G A rs138005000 byFrequency TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:39681243G>A uc010wfs.2 - 5 1009 c.1001C>T c.(1000-1002)aCg>aTg p.T334M JUP_uc002hxd.4_Missense_Mutation_p.T171M NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 0 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) AGCCTGTTCCGTCTCAAACCT 0.587 EPN3 55040 broad.mit.edu 37 17 48614388 48614388 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr17:48614388G>A uc010wms.2 + 2 824 c.636G>A c.(634-636)gaG>gaA p.E212E EPN3_uc002ira.4_Silent_p.E157E|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.E157E Q9H201 EPN3_HUMAN Homo sapiens epsin 3 (EPN3), mRNA. 157 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) TGGCACTGGAGGGCATCGGCA 0.657 APBA3 9546 broad.mit.edu 37 19 3759564 3759564 + Missense_Mutation SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:3759564T>C uc002lyp.1 - 2 788 c.611A>G c.(610-612)cAg>cGg p.Q204R NM_004886 NP_004877 O96018 APBA3_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA. 204 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) CTCACCCTCCTGGGGGGCAGG 0.632 CLPP 8192 broad.mit.edu 37 19 6366351 6366351 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:6366351C>T uc002mem.1 + 4 761 c.638C>T c.(637-639)aCc>aTc p.T213I NM_006012 NP_006003 Q16740 CLPP_HUMAN Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP), nuclear gene encoding mitochondrial protein, mRNA. 213 proteolysis mitochondrial matrix ATP binding|protein binding|serine-type endopeptidase activity p.T213A(1) endometrium(2)|large_intestine(2)|ovary(2) 6 GCCAAGCACACCAAACAGAGC 0.557 VAV1 7409 broad.mit.edu 37 19 6772889 6772889 + Missense_Mutation SNP C C A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:6772889C>A uc002mfu.1 + 0 168 c.71C>A c.(70-72)aCc>aAc p.T24N VAV1_uc010xjh.1_Missense_Mutation_p.T24N|VAV1_uc010dva.1_Missense_Mutation_p.T24N NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 24 CH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CACCGCGTGACCTGGGATGGG 0.662 CYP4F8 11283 broad.mit.edu 37 19 15730340 15730340 + Missense_Mutation SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:15730340T>C uc002nbi.3 + 3 447 c.383T>C c.(382-384)cTg>cCg p.L128P CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron NM_007253 NP_009184 P98187 CP4F8_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA. 128 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 TACAAGACCCTGAAGCCCTGG 0.537 PSG7 5676 broad.mit.edu 37 19 43433692 43433692 + Missense_Mutation SNP A A T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:43433692A>T uc002ovl.4 - 3 710 c.608T>A c.(607-609)cTa>cAa p.L203Q PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.L82Q NM_002783 NP_002774 Q13046 PSG7_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA. 204 Ig-like C2-type 1. female pregnancy extracellular region Prostate(69;0.00682) GACACCAAATAGGTAGAGGGT 0.522 MYBPC2 4606 broad.mit.edu 37 19 50945481 50945481 + Silent SNP C C A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr19:50945481C>A uc002psf.2 + 8 864 c.813C>A c.(811-813)ggC>ggA p.G271G NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 271 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TGGACAGAGGCAACAAGATCA 0.522 RNF181 51255 broad.mit.edu 37 2 85824255 85824255 + Missense_Mutation SNP A A G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:85824255A>G uc002spv.1 + 3 406 c.356A>G c.(355-357)gAg>gGg p.E119G NM_016494 NP_057578 Q9P0P0 RN181_HUMAN Homo sapiens ring finger protein 181 (RNF181), mRNA. 119 ligase activity|zinc ion binding lung(1)|stomach(1) 2 TGCCGCTATGAGCTGCCCACT 0.522 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:112608394T>C uc002thi.3 - 13 1856 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(10) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433 ANAPC1 64682 broad.mit.edu 37 2 112608407 112608407 + Silent SNP T T A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:112608407T>A uc002thi.3 - 13 1843 c.1596A>T c.(1594-1596)ctA>ctT p.L532L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 532 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TAACGCCATCTAGTGGAGTAC 0.433 LY75-CD302 4065 broad.mit.edu 37 2 160755444 160755444 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:160755444C>T uc002ubb.4 - 1 295 c.221G>A c.(220-222)cGg>cAg p.R74Q LY75-CD302_uc010fos.3_Missense_Mutation_p.R74Q|LY75-CD302_uc002ubc.4_Missense_Mutation_p.R74Q|LY75-CD302_uc010fot.2_Missense_Mutation_p.R74Q NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 74 Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding ATGAAAGAGCCGATGCTGGGA 0.493 LRP2 4036 broad.mit.edu 37 2 170090092 170090092 + Missense_Mutation SNP G G A rs140789320 by1000genomes TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:170090092G>A uc002ues.3 - 29 5140 c.4927C>T c.(4927-4929)Cgg>Tgg p.R1643W NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 1643 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TAGGGGTGCCGTATAATCTGT 0.498 TRIP12 9320 broad.mit.edu 37 2 230663714 230663714 + Missense_Mutation SNP A A C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:230663714A>C uc002vpx.1 - 22 3387 c.3278T>G c.(3277-3279)tTg>tGg p.L1093W TRIP12_uc021vxw.1_Missense_Mutation_p.L1078W|TRIP12_uc002vpy.1_Missense_Mutation_p.L775W|TRIP12_uc002vpw.1_Missense_Mutation_p.L1045W|TRIP12_uc010zlz.1_Non-coding_Transcript NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 1045 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TTTTGGATTCAAGCTTGCCAG 0.448 TRIP12 9320 broad.mit.edu 37 2 230663734 230663734 + Silent SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:230663734T>C uc002vpx.1 - 22 3367 c.3258A>G c.(3256-3258)aaA>aaG p.K1086K TRIP12_uc021vxw.1_Silent_p.K1071K|TRIP12_uc002vpy.1_Silent_p.K768K|TRIP12_uc002vpw.1_Silent_p.K1038K|TRIP12_uc010zlz.1_Non-coding_Transcript NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 1038 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GGAAAGAAGATTTAGGTGACT 0.398 TRIP12 9320 broad.mit.edu 37 2 230663763 230663763 + Missense_Mutation SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr2:230663763T>C uc002vpx.1 - 22 3338 c.3229A>G c.(3229-3231)Aaa>Gaa p.K1077E TRIP12_uc021vxw.1_Missense_Mutation_p.K1062E|TRIP12_uc002vpy.1_Missense_Mutation_p.K759E|TRIP12_uc002vpw.1_Missense_Mutation_p.K1029E|TRIP12_uc010zlz.1_Non-coding_Transcript NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 1029 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GTGGGGCTTTTAGCTATGAAA 0.343 TGM3 7053 broad.mit.edu 37 20 2298103 2298103 + Missense_Mutation SNP C C A rs147913958 TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr20:2298103C>A uc002wfx.4 + 6 1052 c.955C>A c.(955-957)Ccc>Acc p.P319T NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 319 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CATGGGAAACCCCCTGGACAA 0.507 FAM65C 140876 broad.mit.edu 37 20 49221267 49221267 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr20:49221267C>T uc010zyt.2 - 11 1252 c.1001G>A c.(1000-1002)gGc>gAc p.G334D FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.G330D|FAM65C_uc002xvn.1_Missense_Mutation_p.G330D NM_080829 NP_543019 Q96MK2 FA65C_HUMAN Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA. 330 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGAAAACTTGCCCGTGGGGCT 0.592 TRPM2 7226 broad.mit.edu 37 21 45789188 45789188 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr21:45789188G>A uc010gpt.1 + 4 833 c.733G>A c.(733-735)Ggc>Agc p.G245S TRPM2_uc002zet.1_Missense_Mutation_p.G245S|TRPM2_uc002zeu.1_Missense_Mutation_p.G245S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G245S|TRPM2_uc002zex.1_Missense_Mutation_p.G31S NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 245 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 CGCCACCTGGGGCACTGTCCA 0.667 ZBED4 9889 broad.mit.edu 37 22 50280049 50280049 + Silent SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr22:50280049C>T uc003bix.2 + 1 3209 c.2739C>T c.(2737-2739)tcC>tcT p.S913S ZBED4_uc021wrx.1_Silent_p.S913S NM_014838 NP_055653 O75132 ZBED4_HUMAN Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA. 913 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ACGAGATGTCCGTCGAGTGTA 0.587 GRIP2 80852 broad.mit.edu 37 3 14558595 14558595 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr3:14558595C>T uc021wtn.1 - 12 1571 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA. 428 PDZ 4. synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 TTCCCTTCTTCGCTGCCTCCT 0.572 TLR9 54106 broad.mit.edu 37 3 52255367 52255367 + Missense_Mutation SNP G G T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr3:52255367G>T uc003ddb.3 - 4 3466 c.3256C>A c.(3256-3258)Cgc>Agc p.R1086S TLR9_uc003dda.2_Missense_Mutation_p.R989S NM_017442 NP_059138 Q9NR96 TLR9_HUMAN Homo sapiens toll-like receptor 9 (TLR9), mRNA. 989 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) ACACTCTGGCGGCAGAGGCGC 0.687 TNIP3 79931 broad.mit.edu 37 4 122075742 122075742 + Missense_Mutation SNP C C G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr4:122075742C>G uc021xrj.1 - 7 766 c.687G>C c.(685-687)aaG>aaC p.K229N TNIP3_uc010ing.3_Missense_Mutation_p.K152N|TNIP3_uc011cgj.2_Missense_Mutation_p.K222N|TNIP3_uc010ini.3_Missense_Mutation_p.K152N NM_001244764 NP_001231693 Q96KP6 TNIP3_HUMAN Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA. 152 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 CGTAATGTTCCTTTTCCTTGT 0.343 BRD9 65980 broad.mit.edu 37 5 865623 865623 + Missense_Mutation SNP G G C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:865623G>C uc003jbq.3 - 14 1766 c.1599C>G c.(1597-1599)gaC>gaG p.D533E BRD9_uc003jbl.3_Missense_Mutation_p.D417E|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.D480E|BRD9_uc003jbo.3_Missense_Mutation_p.D437E NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA. 533 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CTTCGTGCAGGTCCTGCAGGA 0.617 MARVELD2 153562 broad.mit.edu 37 5 68728420 68728420 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:68728420G>A uc003jwq.3 + 3 1323 c.1249G>A c.(1249-1251)Gca>Aca p.A417T MARVELD2_uc010ixf.3_Missense_Mutation_p.A405T|MARVELD2_uc003jws.1_Non-coding_Transcript NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA. 417 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) ACTGAGAACAGCAAAAATGAA 0.448 SLCO6A1 133482 broad.mit.edu 37 5 101816005 101816005 + Missense_Mutation SNP G G T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:101816005G>T uc003knn.3 - 1 664 c.492C>A c.(490-492)ttC>ttA p.F164L SLCO6A1_uc003kno.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knp.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knq.3_Missense_Mutation_p.F164L NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 164 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TGTCTCCATAGAATGCTATAA 0.338 CHSY3 337876 broad.mit.edu 37 5 129519964 129519964 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:129519964G>A uc003kvd.3 + 2 1129 c.1129G>A c.(1129-1131)Ggt>Agt p.G377S NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA. 377 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CAATCGGAAGGGTTACATCCA 0.338 FBXO38 81545 broad.mit.edu 37 5 147784293 147784293 + Missense_Mutation SNP T T G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:147784293T>G uc003lpf.1 + 5 758 c.638T>G c.(637-639)cTt>cGt p.L213R FBXO38_uc003lpg.1_Missense_Mutation_p.L213R|FBXO38_uc003lph.2_Missense_Mutation_p.L213R NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA. 213 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAAGGCACCTTTATATGAAG 0.348 SLIT3 6586 broad.mit.edu 37 5 168212916 168212916 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:168212916G>A uc010jjg.3 - 11 1567 c.1147C>T c.(1147-1149)Ctg>Ttg p.L383L SLIT3_uc003mab.3_Silent_p.L383L|SLIT3_uc010jji.2_Silent_p.L383L|SLIT3_uc003mac.1_Silent_p.L180L NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 383 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTCACAGCAGCTGTAGGGAC 0.493 NSD1 64324 broad.mit.edu 37 5 176638305 176638305 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr5:176638305G>A uc003mfr.4 + 4 3043 c.2905G>A c.(2905-2907)Gga>Aga p.G969R NSD1_uc003mft.4_Missense_Mutation_p.G700R|NSD1_uc003mfs.1_Missense_Mutation_p.G866R|NSD1_uc011dfx.2_Missense_Mutation_p.G617R NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 969 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGAGAAAAAGGGAGATGGCAC 0.512 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) PNPLA1 285848 broad.mit.edu 37 6 36259268 36259268 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr6:36259268G>A uc010jwf.2 + 1 377 c.377G>A c.(376-378)cGc>cAc p.R126H PNPLA1_uc010jwe.1_Missense_Mutation_p.R31H|PNPLA1_uc003olw.1_Missense_Mutation_p.R31H NM_001145717 NP_775947 Q8N8W4 PLPL1_HUMAN Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA. 126 Patatin. lipid catabolic process hydrolase activity p.R31H(1) breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 AGCCTCACCCGCTTAACGGAC 0.602 PRICKLE4 29964 broad.mit.edu 37 6 41753983 41753983 + Missense_Mutation SNP A A G TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr6:41753983A>G uc011duf.1 + 6 948 c.700A>G c.(700-702)Agc>Ggc p.S234G PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank NM_013397 NP_037529 Q2TBC4 PRIC4_HUMAN Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA. 194 nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 13 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCTGGGGGAAGCCCCTGCTG 0.672 TIAM2 26230 broad.mit.edu 37 6 155572049 155572049 + Silent SNP A A C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr6:155572049A>C uc003qqb.3 + 23 5227 c.3954A>C c.(3952-3954)gtA>gtC p.V1318V TIAM2_uc003qqe.3_Silent_p.V1318V|TIAM2_uc010kjj.3_Silent_p.V880V|TIAM2_uc003qqf.3_Silent_p.V694V|TIAM2_uc011efl.1_Silent_p.V654V|TIAM2_uc003qqg.3_Silent_p.V630V|TIAM2_uc003qqh.3_Silent_p.V243V NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 1318 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.E1317A(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CAATCTAGGTAACAGAACTTT 0.423 HECW1 23072 broad.mit.edu 37 7 43485067 43485067 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:43485067G>A uc003tid.1 + 10 2901 c.2296G>A c.(2296-2298)Gct>Act p.A766T HECW1_uc011kbi.1_Missense_Mutation_p.A766T NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 766 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CACGAACGGCGCTGGGCCGTG 0.652 ZPBP 11055 broad.mit.edu 37 7 50121433 50121433 + Nonsense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:50121433G>A uc003tou.3 - 2 341 c.271C>T c.(271-273)Cga>Tga p.R91* ZPBP_uc010kyw.3_Nonsense_Mutation_p.R91* NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. 91 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) TCAGCATTTCGCAGTTGTTGC 0.338 EGFR 1956 broad.mit.edu 37 7 55221710 55221710 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:55221710C>T uc003tqk.3 + 6 1000 c.754C>T c.(754-756)Cgc>Tgc p.R252C EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 252 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATAGGTCTGCCGCAAATTCCG 0.582 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) CCDC146 57639 broad.mit.edu 37 7 76922321 76922321 + Missense_Mutation SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:76922321T>C uc003uga.3 + 17 2595 c.2468T>C c.(2467-2469)cTt>cCt p.L823P CCDC146_uc010ldp.3_Missense_Mutation_p.L537P|CCDC146_uc003ugc.3_Missense_Mutation_p.L160P NM_020879 NP_065930 Q8IYE0 CC146_HUMAN Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA. 823 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) ATGATGGCTCTTGTTGCTGAG 0.398 PCLO 27445 broad.mit.edu 37 7 82387898 82387898 + Missense_Mutation SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:82387898G>A uc003uhx.2 - 24 15711 c.15422C>T c.(15421-15423)aCg>aTg p.T5141M NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 5064 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTTCAATGCGTTTGAGTAGG 0.378 SLC26A3 1811 broad.mit.edu 37 7 107427951 107427951 + Missense_Mutation SNP G G C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:107427951G>C uc003ver.2 - 6 950 c.739C>G c.(739-741)Cta>Gta p.L247V SLC26A3_uc003ves.2_Missense_Mutation_p.L212V NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 247 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ACAGAGTATAGTACCTACAAT 0.323 KEL 3792 broad.mit.edu 37 7 142649696 142649696 + Missense_Mutation SNP C C A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:142649696C>A uc003wcb.3 - 9 1313 c.1103G>T c.(1102-1104)gGg>gTg p.G368V NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 368 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CACCACCAGCCCTAAGATCAT 0.537 KCNH2 3757 broad.mit.edu 37 7 150649545 150649545 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr7:150649545C>T uc003wic.3 - 5 1926 c.1525G>A c.(1525-1527)Gac>Aac p.D509N KCNH2_uc003wib.3_Missense_Mutation_p.D169N|KCNH2_uc011kux.2_Missense_Mutation_p.D413N|KCNH2_uc003wid.3_Missense_Mutation_p.D169N|KCNH2_uc003wie.3_Missense_Mutation_p.D509N NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 509 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) ATGAGCAGGTCGAAGGGGATG 0.632 CYP7B1 9420 broad.mit.edu 37 8 65517309 65517309 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr8:65517309C>T uc003xvj.2 - 4 1367 c.1163G>A c.(1162-1164)cGa>cAa p.R388Q NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 388 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GTCTCCCTTTCGCACACAGTA 0.453 RIMS2 9699 broad.mit.edu 37 8 104922392 104922392 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr8:104922392C>T uc003yls.3 + 2 1230 c.989C>T c.(988-990)aCg>aTg p.T330M RIMS2_uc003ylp.3_Missense_Mutation_p.T552M|RIMS2_uc003ylw.2_Missense_Mutation_p.T360M|RIMS2_uc003ylq.3_Missense_Mutation_p.T360M|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 630 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.T330K(1) NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TTGGATCATACGTCTTGGCAT 0.388 HNSCC(12;0.0054) CSMD3 114788 broad.mit.edu 37 8 113988286 113988286 + Silent SNP A A T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr8:113988286A>T uc003ynu.3 - 6 1281 c.1122T>A c.(1120-1122)ccT>ccA p.P374P CSMD3_uc003ynt.3_Silent_p.P334P|CSMD3_uc011lhx.2_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 374 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TAACATCTGCAGGTGTGCTAG 0.493 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) COL14A1 7373 broad.mit.edu 37 8 121326264 121326264 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chr8:121326264C>T uc003yox.3 + 37 4814 c.4549C>T c.(4549-4551)Ccc>Tcc p.P1517S COL14A1_uc003yoz.3_Missense_Mutation_p.P482S NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1517 Triple-helical region 1 (COL2). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCAAGGAATGCCCGTGAGTTG 0.468 CXorf23 256643 broad.mit.edu 37 X 19968952 19968952 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:19968952C>T uc004czp.3 - 6 1664 c.1664G>A c.(1663-1665)cGa>cAa p.R555Q CXorf23_uc011mjg.2_Missense_Mutation_p.R120Q|CXorf23_uc004czo.3_Missense_Mutation_p.R505Q NM_198279 NP_938020 A2AJT9 CX023_HUMAN Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA. 555 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 AATGTCATGTCGTAGGTCATT 0.368 OPHN1 4983 broad.mit.edu 37 X 67421527 67421527 + Missense_Mutation SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:67421527T>C uc004dww.4 - 10 1253 c.959A>G c.(958-960)tAc>tGc p.Y320C OPHN1_uc011mpg.2_Missense_Mutation_p.Y320C NM_002547 NP_002538 O60890 OPHN1_HUMAN Homo sapiens oligophrenin 1 (OPHN1), mRNA. 320 PH. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 TCTCACACAGTACTTCAGTGT 0.418 LPAR4 2846 broad.mit.edu 37 X 78011289 78011289 + Missense_Mutation SNP C C A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:78011289C>A uc022bzj.1 + 0 923 c.923C>A c.(922-924)cCt>cAt p.P308H LPAR4_uc010nme.3_Missense_Mutation_p.P308H NM_005296 NP_005287 Q99677 LPAR4_HUMAN Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA. 308 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled p.D307N(1)|p.D307Y(1)|p.D307H(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TGTTTTGACCCTTTCATCTAT 0.418 POF1B 79983 broad.mit.edu 37 X 84634326 84634326 + Missense_Mutation SNP T T C TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:84634326T>C uc004eer.2 - 1 280 c.134A>G c.(133-135)aAa>aGa p.K45R POF1B_uc004ees.3_Missense_Mutation_p.K45R NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 45 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CACTACATTTTTTTCTGGAGG 0.577 GUCY2F 2986 broad.mit.edu 37 X 108673542 108673542 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:108673542G>A uc022cch.1 - 6 1870 c.1785C>T c.(1783-1785)ttC>ttT p.F595F GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.F595F NM_001522 NP_001513 P51841 GUC2F_HUMAN Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. 595 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 ATACCATTTCGAACACATCAC 0.388 LAMP2 3920 broad.mit.edu 37 X 119565295 119565295 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:119565295G>A uc004ess.4 - LAMP2_uc004est.4_Silent_p.D372D|LAMP2_uc011mtz.2_Intron NM_001122606 NP_001116078 P13473 LAMP2_HUMAN Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 GGAAGTTGTCGTCATCTGCAC 0.438 GRIA3 2892 broad.mit.edu 37 X 122532507 122532507 + Silent SNP C C T rs148850386 byFrequency TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:122532507C>T uc004etq.4 + 6 1225 c.933C>T c.(931-933)caC>caT p.H311H GRIA3_uc004etr.4_Silent_p.H311H|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.H295H NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 311 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CATTGACACACGACGCAATAC 0.423 SMARCA1 6594 broad.mit.edu 37 X 128657225 128657225 + Silent SNP G G A TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:128657225G>A uc011muk.1 - 0 236 c.123C>T c.(121-123)gcC>gcT p.A41A SMARCA1_uc004eun.4_Silent_p.A41A|SMARCA1_uc004eup.4_Silent_p.A41A|SMARCA1_uc011mul.1_Silent_p.A41A NM_003069 NP_003060 P28370 SMCA1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA. 41 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CGGTGGCCGCGGCGGCCGCTC 0.667 ZNF280C 55609 broad.mit.edu 37 X 129370597 129370598 + Frame_Shift_Del DEL TG TG - TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:129370597_129370598delTG uc004evm.3 - 6 712_713 c.509_510delCA c.(508-510)tcafs p.S170fs ZNF280C_uc010nrf.2_Frame_Shift_Del_p.S170fs NM_017666 NP_060136 Q8ND82 Z280C_HUMAN Homo sapiens zinc finger protein 280C (ZNF280C), mRNA. 170 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 TCAACACATATGAAGTATTTTT 0.312 MAGEC1 9947 broad.mit.edu 37 X 140995644 140995644 + Silent SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:140995644C>T uc004fbt.3 + 3 2778 c.2454C>T c.(2452-2454)ccC>ccT p.P818P MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.P477P NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 818 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GCTCCTTCCCCTCCTCCACTT 0.557 HNSCC(15;0.026) AFF2 2334 broad.mit.edu 37 X 148035181 148035181 + Missense_Mutation SNP C C T TCGA-06-2563-01A-01D-1494-08 TCGA-06-2563-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d81086c-bf8b-4459-abcf-1ff905c6bf74 ed0e22ef-1560-4911-b27c-76044ec96702 g.chrX:148035181C>T uc004fcp.3 + 9 1948 c.1469C>T c.(1468-1470)tCg>tTg p.S490L AFF2_uc004fcq.3_Missense_Mutation_p.S480L|AFF2_uc004fcr.3_Missense_Mutation_p.S451L|AFF2_uc011mxb.2_Missense_Mutation_p.S455L|AFF2_uc004fcs.3_Missense_Mutation_p.S457L|AFF2_uc011mxc.2_Missense_Mutation_p.S131L NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 490 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TCCAGCGAATCGGAGAGCAGC 0.557