Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut MOB3B 79817 broad.mit.edu 37 9 27359236 27359236 + Splice_Site SNP T T C TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr9:27359236T>C ENST00000262244.5 - 3 843 c.e3-2 MOB3B_ENST00000603061.1_Splice_Site NM_024761.4 NP_079037.3 Q86TA1 MOL2B_HUMAN MOB kinase activator 3B metal ion binding|protein binding AGGGAACACCTAGAGAAGAAA 0.453000 59 71 0 0 0.014410 0 0 MST1L 0 broad.mit.edu 37 1 17083837 17083837 + RNA SNP T T C rs7798 by1000genomes TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr1:17083837T>C ENST00000455405.2 - 0 751 CTAATTCCTTTCAGGACCCAG 0.572000 4 25 0 0 0.003080 0 0 GAS8 2622 broad.mit.edu 37 16 90103675 90103675 + Silent SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr16:90103675C>T ENST00000268699.4 + 7 914 c.792C>T c.(790-792)caC>caT p.H264H GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.H239H NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 264 negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) AGGAGGACCACCTGGAGAGGG 0.627000 4 21 0 0 0.009096 0 0 RPL32P3 0 broad.mit.edu 37 3 129116292 129116292 + RNA SNP A A C TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr3:129116292A>C ENST00000514355.1 - 0 412 lung(1) 1 AGCAAATCCCACCCTGCCAGT 0.512000 8 55 0 0 0.021523 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 116 172 0 0 0.014410 0 0 AC008103.5 0 broad.mit.edu 37 22 18845998 18845998 + RNA SNP G G A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr22:18845998G>A ENST00000412938.1 + 0 3356 CCCGTCCTGCGCAGGCCGACA 0.607000 7 34 0 0 0.003080 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120282 62120282 + Missense_Mutation SNP T T G TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr20:62120282T>G ENST00000217182.3 - 7 1418 c.1253A>C c.(1252-1254)tAc>tCc p.Y418S EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 418 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity p.Y418S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GAGAGGCGGGTACTGGGAGAA 0.667000 17 39 0 0 0.017118 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039818 2039818 + Silent SNP A A G TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr9:2039818A>G ENST00000382203.1 + 4 917 c.708A>G c.(706-708)caA>caG p.Q236Q SMARCA2_ENST00000349721.2_Silent_p.Q236Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q236Q|SMARCA2_ENST00000382194.1_Silent_p.Q236Q P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 236 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcagcagcaacagcagccgc 0.587000 3 31 0 0 0.009096 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803719 142803719 + RNA SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr1:142803719C>T ENST00000423385.1 - 0 1246 ttcctataacctactgttaaa 0.368000 3 13 0 0 0.004672 0 0 C6orf47 57827 broad.mit.edu 37 6 31627090 31627090 + Missense_Mutation SNP C C A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr6:31627090C>A ENST00000375911.1 - 1 1459 c.635G>T c.(634-636)cGt>cTt p.R212L C6orf47-AS1_ENST00000422049.1_RNA NM_021184.3 NP_067007.3 O95873 CF047_HUMAN chromosome 6 open reading frame 47 212 NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 CAGCGGTCCACGCAGGCCCAG 0.637000 45 34 1.76056e-25 1.85785e-24 0.011902 1 0 AP000525.9 0 broad.mit.edu 37 22 16151010 16151010 + RNA SNP T T C rs143820047 by1000genomes TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr22:16151010T>C ENST00000447898.1 - 0 1104 AGTTGTTCTCTGGAATCAATC 0.393000 5 16 0 0 0.001984 0 0 ADCY9 115 broad.mit.edu 37 16 4164144 4164144 + Missense_Mutation SNP T T G TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr16:4164144T>G ENST00000294016.3 - 2 1838 c.1300A>C c.(1300-1302)Aag>Cag p.K434Q NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 434 Guanylate cyclase 1. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TTCTCACACTTGGTCTCCTCA 0.612000 6 136 0 0 0.001168 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149785212 149785212 + Missense_Mutation SNP G G A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr1:149785212G>A ENST00000331491.1 - 1 24 c.25C>T c.(25-27)Cgc>Tgc p.R9C NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 9 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 GTCGACTTGCGGGCAGTCTGC 0.602000 37 49 0 0 0.013114 0 0 SF3A1 10291 broad.mit.edu 37 22 30734812 30734812 + Missense_Mutation SNP G G A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr22:30734812G>A ENST00000439242.1 - 11 1645 c.1514C>T c.(1513-1515)gCt>gTt p.A505V SF3A1_ENST00000215793.7_Missense_Mutation_p.A570V NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 570 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GATGGGTGGAGCCGAGCTGGG 0.542000 95 102 0 0 0.014410 0 0 PSMA6 5687 broad.mit.edu 37 14 35761712 35761712 + Missense_Mutation SNP C C A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr14:35761712C>A ENST00000261479.4 + 1 150 c.30C>A c.(28-30)gaC>gaA p.D10E PSMA6_ENST00000553809.1_Missense_Mutation_p.D10E|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000556506.1_Missense_Mutation_p.D10E|KIAA0391_ENST00000557565.1_Intron|PSMA6_ENST00000555764.1_5'UTR NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 10 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) CCGGTTTTGACCGCCACATTA 0.562000 9 115 0.000673444 0.00628026 0.008291 1 0 KCNA4 3739 broad.mit.edu 37 11 30033056 30033056 + Nonsense_Mutation SNP G G T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr11:30033056G>T ENST00000328224.6 - 2 2403 c.1170C>A c.(1168-1170)tgC>tgA p.C390* NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 390 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GACAAGCAAAGCAGCGAACCA 0.448000 47 73 1.02687e-29 1.1129e-28 0.013114 1 0 TBC1D7 51256 broad.mit.edu 37 6 13307860 13307860 + Missense_Mutation SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr6:13307860C>T ENST00000607658.1 - 5 706 c.556G>A c.(556-558)Gga>Aga p.G186R TBC1D7_ENST00000356436.4_Missense_Mutation_p.G213R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.G186R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.G167R|TBC1D7_ENST00000379300.3_Missense_Mutation_p.G213R|TBC1D7_ENST00000607532.1_5'UTR Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 213 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) GGCAAACATCCCGCAAAGCAC 0.483000 40 56 0 0 0.006230 0 0 LAMC3 10319 broad.mit.edu 37 9 133917103 133917103 + Nonsense_Mutation SNP G G T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr9:133917103G>T ENST00000361069.4 + 7 1496 c.1363G>T c.(1363-1365)Gaa>Taa p.E455* LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 455 Laminin EGF-like 4. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGAGAATGTGGAAGGCAACCT 0.582000 13 43 0.000308642 0.0029468 0.003163 1 0 SYNCRIP 10492 broad.mit.edu 37 6 86324743 86324743 + Missense_Mutation SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr6:86324743C>T ENST00000355238.6 - 11 1809 c.1603G>A c.(1603-1605)Gtt>Att p.V535I SYNCRIP_ENST00000369622.3_Missense_Mutation_p.V535I|RP11-321N4.5_ENST00000503906.1_Silent_p.A70A NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 535 8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GCACCTCGAACGCCTCTTGCT 0.627000 39 177 0 0 0.009718 0 0 C11orf87 399947 broad.mit.edu 37 11 109294829 109294829 + Missense_Mutation SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr11:109294829C>T ENST00000327419.6 + 2 873 c.470C>T c.(469-471)cCg>cTg p.P157L RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA NM_207645.3 NP_997528.2 Q6NUJ2 CK087_HUMAN chromosome 11 open reading frame 87 157 integral to membrane p.P157R(1) breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 CCTGGCCTCCCGTGCCAGGGT 0.672000 48 55 0 0 0.013114 0 0 CDHR1 92211 broad.mit.edu 37 10 85972879 85972879 + Silent SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr10:85972879C>T ENST00000372117.3 + 16 1918 c.1815C>T c.(1813-1815)aaC>aaT p.N605N CDHR1_ENST00000440770.2_Silent_p.N309N|CDHR1_ENST00000332904.3_Silent_p.N605N NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 605 Cadherin 6. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 AACCCAACAACCTGGTGGACT 0.557000 60 59 0 0 0.014410 0 0 KLHL24 54800 broad.mit.edu 37 3 183397022 183397022 + Missense_Mutation SNP A A G rs143529905 TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr3:183397022A>G ENST00000454652.1 + 9 2137 c.1751A>G c.(1750-1752)tAt>tGt p.Y584C KLHL24_ENST00000242810.6_Missense_Mutation_p.Y584C Q6TFL4 KLH24_HUMAN kelch-like family member 24 584 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CCAGTGTCCTATCATGGCTGT 0.463000 33 36 0 0 0.009535 0 0 DNM1P47 0 broad.mit.edu 37 15 102292839 102292839 + RNA SNP C C A rs62026971 TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr15:102292839C>A ENST00000561463.1 + 0 885 CTCGTGGAGGCGTCGGCAGAG 0.597000 5 16 2.0095e-06 1.96539e-05 0.001984 1 0 FAT3 120114 broad.mit.edu 37 11 92577600 92577600 + Silent SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr11:92577600C>T ENST00000298047.6 + 18 11084 c.11067C>T c.(11065-11067)agC>agT p.S3689S FAT3_ENST00000533797.1_Silent_p.S24S|FAT3_ENST00000409404.2_Silent_p.S3689S|FAT3_ENST00000525166.1_Silent_p.S3539S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3689 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCATCATCAGCATCCAGCCCG 0.602000 TCGA Ovarian(4;0.039) 16 24 0 0 0.004007 0 0 GRAMD2 196996 broad.mit.edu 37 15 72457708 72457708 + Missense_Mutation SNP T T G TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr15:72457708T>G ENST00000309731.7 - 8 600 c.587A>C c.(586-588)gAa>gCa p.E196A GRAMD2_ENST00000564184.1_5'UTR NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 196 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 AGACTCAGGTTCCCCTGAAAA 0.552000 7 118 0 0 0.003080 0 0 ARVCF 421 broad.mit.edu 37 22 19969230 19969230 + Missense_Mutation SNP G G A TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr22:19969230G>A ENST00000263207.3 - 5 691 c.400C>T c.(400-402)Cgg>Tgg p.R134W ARVCF_ENST00000406522.1_Missense_Mutation_p.R71W|ARVCF_ENST00000344269.3_Missense_Mutation_p.R71W|ARVCF_ENST00000401994.1_Missense_Mutation_p.R71W|ARVCF_ENST00000406259.1_Missense_Mutation_p.R134W|ARVCF_ENST00000487793.1_5'UTR NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 134 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CGTACTGTCCGAGTGGTCACC 0.622000 38 58 0 0 0.007835 0 0 AC008103.5 0 broad.mit.edu 37 22 18845990 18845990 + RNA SNP C C T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr22:18845990C>T ENST00000412938.1 + 0 3348 ACCTCCATCCCGTCCTGCGCA 0.582000 7 35 0 0 0.003080 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 75 0 0 0.003080 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 7 419 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74685770 74685770 + Frame_Shift_Del DEL G G - TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr2:74685770delG ENST00000393972.3 + 1 244 c.41delG c.(40-42)tgfs p.W14fs WBP1_ENST00000409737.1_Frame_Shift_Del_p.W14fs|WBP1_ENST00000233615.2_Frame_Shift_Del_p.W14fs|WBP1_ENST00000494741.1_3'UTR Q96G27 WBP1_HUMAN WW domain binding protein 1 14 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GAGGAGGCCTGGGGGGCACTT 0.632 2 4 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31270080 31270081 + RNA INS - - AAA rs112314315 TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr12:31270080_31270081insAAA ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CGTTAAACTGGATCTCACTGGA 0.505 9 28 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148706 45148708 + In_Frame_Del DEL TGC TGC - rs112613609 TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr13:45148706_45148708delTGC ENST00000458659.2 - 1 1993_1995 c.1503_1505delGCA c.(1501-1506)caa>ca p.QQ507del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 507 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ttgttgttgttgctgctgctgct 0.507 9 193 --- --- --- --- TRAV9-1 0 broad.mit.edu 37 14 22279845 22279846 + RNA INS - - T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr14:22279845_22279846insT ENST00000390431.3 + 0 46 TAATTTGTTTATTTTTTTTTCA 0.406 2 4 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514603 75514604 + Frame_Shift_Ins INS - - T TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr14:75514603_75514604insT ENST00000355774.2 - 2 1970_1971 c.1755_1756insA c.(1753-1758)aaaatcfs p.I586fs MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 586 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTGCTAGATTCTTTTTTTTTCT 0.356 Mismatch excision repair (MMR) 7 189 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-EM-A2CN-01A-11D-A19J-08 TCGA-EM-A2CN-10B-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c02d399-07af-4573-a568-bc1b256bc8f8 06dfc16a-ca37-46ca-8abb-20c1295e8f3a g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 8 12 --- --- --- ---