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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut COG2 22796 broad.mit.edu 37 1 230807286 230807286 + Missense_Mutation SNP T G G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr1:230807286T>G uc001htw.3 + 7 950 c.799T>G c.(799-801)Tct>Gct p.S267A COG2_uc001htx.3_Missense_Mutation_p.S267A|COG2_uc010pwc.2_Missense_Mutation_p.S140A NM_007357 NP_031383 Q14746 COG2_HUMAN Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA. 267 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GTTTGTTGAATCTCATCCCAA 0.373000 45 7 0 0 1 0 0 TUBA1B 10376 broad.mit.edu 37 12 49523049 49523049 + Silent SNP A G G rs1057072 TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr12:49523049A>G uc001rtm.3 - 2 572 c.351T>C c.(349-351)ctT>ctC p.L117L TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_Silent_p.L82L NM_006082 NP_006073 P68363 TBA1B_HUMAN Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA. 117 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GGTCCAACACAAGGTCAATGA 0.488000 74 4 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65239464 65239464 + Missense_Mutation SNP G T T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr14:65239464G>T uc001xht.3 - 24 5438 c.5387C>A c.(5386-5388)tCc>tAc p.S1796Y SPTB_uc001xhr.3_Missense_Mutation_p.S1796Y|SPTB_uc001xhs.3_Missense_Mutation_p.S1796Y|SPTB_uc001xhu.3_Missense_Mutation_p.S1796Y|SPTB_uc010aqi.3_Missense_Mutation_p.S457Y NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1796 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CAGGTCATAGGAGGCGGCCAG 0.662000 34 4 0.0215528 0.0236054 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201081402 201081402 + Missense_Mutation SNP C A A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr1:201081402C>A uc001gvv.3 - 0 293 c.66G>T c.(64-66)gaG>gaT p.E22D NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 22 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTGGCAGAATCTCAGGAACTG 0.582000 54 5 0.000602214 0.000692547 1 1 0 PLA2G4D 283748 broad.mit.edu 37 15 42371952 42371952 + Missense_Mutation SNP A G G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr15:42371952A>G uc001zox.3 - 12 1195 c.1100T>C c.(1099-1101)aTg>aCg p.M367T NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 367 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CAGGTGGGCCATTGTCCTGGA 0.627000 15 3 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24035813 24035813 + Missense_Mutation SNP T C C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr14:24035813T>C uc001wkl.2 - 2 624 c.287A>G c.(286-288)gAg>gGg p.E96G AP1G2_uc001wkk.3_Intron|AP1G2_uc001wkn.2_Intron|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.E96G|AP1G2_uc010aks.3_Intron|AP1G2_uc010akt.3_Intron|AP1G2_uc010tnq.1_Intron NM_003917 NP_003908 O75843 AP1G2_HUMAN Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA. 96 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) ATCGTGCCTCTCATCCAATAG 0.537000 80 8 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20435364 20435364 + Silent SNP C A A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr16:20435364C>A uc002dhe.3 + 5 1041 c.894C>A c.(892-894)ccC>ccA p.P298P NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA. 298 fatty acid metabolic process mitochondrial matrix ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 ATGAGCTGCCCCGAGTTGATG 0.463000 22 4 0.150653 0.150653 1 1 0 NLRP13 126204 broad.mit.edu 37 19 56435981 56435981 + Missense_Mutation SNP T G G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr19:56435981T>G uc010ygg.2 - 2 457 c.432A>C c.(430-432)gaA>gaC p.E144D NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 144 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCTCGTCTAGTTCTTCTTGGT 0.433000 33 3 0 0 1 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 91961 91961 + RNA SNP C T T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chrGL000211.1:91961C>T uc003bnz.1 + 6 c.1317C>T FLJ43315_uc003boa.3_Intron Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. CTATAGATTTCCATTATTGTC 0.308000 6 3 0 0 1 0 0 AMD1 262 broad.mit.edu 37 6 111210061 111210061 + Splice_Site SNP G C C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr6:111210061G>C uc003puk.1 + 3 520 c.198_splice c.e3-1 p.S66_splice AMD1_uc011eay.1_Splice_Site|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Splice_Site_p.S37_splice|AMD1_uc011eba.1_Intron NM_001634 NP_001028231 P17707 DCAM_HUMAN Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA. 66 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) CAACTGCAGTGAGAGTAGCAT 0.383000 25 4 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71896855 71896855 + Missense_Mutation SNP A T T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr2:71896855A>T uc010fen.3 + 50 5904 c.5763A>T c.(5761-5763)caA>caT p.Q1921H DYSF_uc010fei.3_Missense_Mutation_p.Q1899H|DYSF_uc010feh.3_Missense_Mutation_p.Q1889H|DYSF_uc002sig.4_Missense_Mutation_p.Q1868H|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.Q1913H|DYSF_uc010fee.3_Missense_Mutation_p.Q1903H|DYSF_uc010fef.3_Missense_Mutation_p.Q1920H|DYSF_uc002sie.3_Missense_Mutation_p.Q1882H|DYSF_uc010feo.3_Missense_Mutation_p.Q1914H|DYSF_uc010fej.3_Missense_Mutation_p.Q1890H|DYSF_uc010fel.3_Missense_Mutation_p.Q1869H|DYSF_uc010fem.3_Missense_Mutation_p.Q1904H|DYSF_uc002sif.3_Missense_Mutation_p.Q1883H|DYSF_uc010fek.3_Missense_Mutation_p.Q1900H|DYSF_uc010yqy.2_Missense_Mutation_p.Q763H|DYSF_uc010yqz.2_Missense_Mutation_p.Q643H NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1882 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGCTGAGCAAGTCTGTACCA 0.532000 32 5 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 21 3 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40220558 40220558 + Missense_Mutation SNP T C C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr7:40220558T>C uc022acd.1 + 1 158 c.134T>C c.(133-135)aTa>aCa p.I45T C7orf10_uc003thn.2_Missense_Mutation_p.I45T|C7orf10_uc003tho.2_Missense_Mutation_p.I45T NM_001193311 NP_001180240 Q9HAC7 CG010_HUMAN Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA. 45 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 ATGAACAATATAAAGCCATTG 0.308000 56 7 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67546931 67546931 + Silent SNP A G G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr8:67546931A>G uc003xwn.3 - 2 3733 c.3474T>C c.(3472-3474)ccT>ccC p.P1158P NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA. 1158 protein ubiquitination Golgi stack|endoplasmic reticulum ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) GAAAAGATTCAGGCAAACCAG 0.443000 49 3 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210296 100210296 + Silent SNP C T T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr2:100210296C>T uc002taf.3 - 13 2046 c.1902G>A c.(1900-1902)gcG>gcA p.A634A AFF3_uc002tag.3_Silent_p.A609A|AFF3_uc010fiq.1_Silent_p.A609A|AFF3_uc010yvr.1_Silent_p.A762A|AFF3_uc002tah.1_Silent_p.A634A NM_001025108 NP_001020279 P51826 AFF3_HUMAN Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA. 609 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CGTCCGCGGCCGCGGGCTCCT 0.746000 18 3 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994014 45994014 + Missense_Mutation SNP C T T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr21:45994014C>T uc002zfk.1 + 0 409 c.379C>T c.(379-381)Ccc>Tcc p.P127S TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA. 127 36 X 5 AA repeats of C-C-X(3). keratin filament p.P127S(4) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GTGCTGTGTGCCCGTCTGCTG 0.642000 106 4 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157803157 157803157 + Silent SNP C T T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr1:157803157C>T uc001frk.4 - 4 1007 c.864G>A c.(862-864)ggG>ggA p.G288G NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 288 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGAGGGACTTCCCACAGCCCA 0.592000 44 4 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108507542 108507544 + Splice_Site DEL GCC - - rs71796067 TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr1:108507542_108507544delGCC uc001dvk.1 - 1 1 c.-53_splice c.e1-1 VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA. B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CAAGGATGCGgccgccgccgccg 0.773 --- 2 --- --- 4 --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG - - rs60664426 TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr6:42989414_42989419delGCCGGG uc003otp.1 + 0 30_35 c.22_27delGCCGGG c.(22-27)gccgggdel p.AG14del NM_033112 NP_149103 Q96EU6 RRP36_HUMAN Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA. 14 rRNA processing|ribosomal small subunit biogenesis nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 --- 3 --- --- 4 ---