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 KIF18A 81930 broad.mit.edu 37 11 28098686 28098686 + Missense_Mutation SNP C C G TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr11:28098686C>G ENST00000263181.6 - 10 1583 c.1293G>C c.(1291-1293)caG>caC p.Q431H NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 431 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 CTTCTCGATTCTGGAACAAGC 0.303000 5 79 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 6 111 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 118975673 118975673 + Missense_Mutation SNP G G A TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr4:118975673G>A ENST00000296499.5 + 2 1011 c.608G>A c.(607-609)cGt>cAt p.R203H NDST3_ENST00000433996.2_Missense_Mutation_p.R203H NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 203 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CCATTGATTCGTGTGACCAAA 0.358000 56 79 0 0 1 0 0 MARCH8 220972 broad.mit.edu 37 10 45953818 45953818 + Missense_Mutation SNP T T C TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr10:45953818T>C ENST00000453424.2 - 8 1852 c.1591A>G c.(1591-1593)Att>Gtt p.I531V MARCH8_ENST00000319836.3_Missense_Mutation_p.I249V|MARCH8_ENST00000395771.3_Missense_Mutation_p.I249V|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Missense_Mutation_p.I249V Q5T0T0 MARH8_HUMAN membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase 249 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 12 TTTTCAAAAATATTCTTTTTG 0.368000 16 137 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127255074 127255074 + Missense_Mutation SNP C C T TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr7:127255074C>T ENST00000341640.2 - 2 401 c.196G>A c.(196-198)Gga>Aga p.G66R PAX4_ENST00000338516.3_Missense_Mutation_p.G74R|PAX4_ENST00000378740.2_Missense_Mutation_p.G66R|PAX4_ENST00000463946.1_Missense_Mutation_p.G64R NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 74 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGCTTGCTTCCCCCAATGCCC 0.577000 7 70 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120350735 120350735 + Nonsense_Mutation SNP G G A TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr11:120350735G>A ENST00000397843.2 + 38 3999 c.3833G>A c.(3832-3834)tGg>tAg p.W1278* ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.W1259*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.W1175* NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1278 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CAGGAAGACTGGCAACATTTC 0.463000 T MLL AML 30 100 0 0 1 0 0 MDFIC 29969 broad.mit.edu 37 7 114655883 114655883 + Missense_Mutation SNP G G T TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr7:114655883G>T ENST00000393486.1 + 5 1225 c.635G>T c.(634-636)tGt>tTt p.C212F MDFIC_ENST00000257724.3_Missense_Mutation_p.C321F NM_001166345.1|NM_199072.4 NP_001159817.1|NP_951038.1 Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 212 Cys-rich. activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 GGGGATGATTGTAACTGCCCT 0.488000 26 199 3.6726e-16 4.02802e-16 1 1 0 NLRP10 338322 broad.mit.edu 37 11 7981342 7981342 + Missense_Mutation SNP C C T TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr11:7981342C>T ENST00000328600.2 - 2 1978 c.1817G>A c.(1816-1818)aGc>aAc p.S606N NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 606 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTCAAGCTGCTTTTGACAGA 0.368000 23 40 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25450191 25450191 + Missense_Mutation SNP A A G TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr6:25450191A>G ENST00000329474.6 + 6 805 c.437A>G c.(436-438)gAc>gGc p.D146G LRRC16A_ENST00000377969.3_5'UTR NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 146 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 GCGCTGTGGGACAGCCAGACC 0.498000 14 16 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99697010 99697010 + Missense_Mutation SNP A A C TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr7:99697010A>C ENST00000303887.5 - 4 938 c.293T>G c.(292-294)gTc>gGc p.V98G MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.V98G NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 98 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) AACGTCCAGGACATCTTTATT 0.488000 26 36 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36961653 36961653 + Nonsense_Mutation SNP T T A TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr5:36961653T>A ENST00000282516.8 + 5 925 c.426T>A c.(424-426)taT>taA p.Y142* NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y142* NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 142 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) CTTCCAATTATCAACAAACCA 0.333000 35 52 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248789593 248789593 + Silent SNP C C T TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr1:248789593C>T ENST00000330803.2 - 1 898 c.837G>A c.(835-837)acG>acA p.T279T NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TAAGCATGGGCGTGACAATGG 0.488000 13 58 0 0 1 0 0 PNMA2 10687 broad.mit.edu 37 8 26365638 26365638 + Missense_Mutation SNP C C T TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr8:26365638C>T ENST00000522362.2 - 3 1528 c.634G>A c.(634-636)Ggc>Agc p.G212S NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 212 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) agggcagggccccgcaggctt 0.542000 6 100 0 0 1 0 0 ZADH2 284273 broad.mit.edu 37 18 72913697 72913697 + Missense_Mutation SNP C C G TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr18:72913697C>G ENST00000322342.3 - 2 1097 c.808G>C c.(808-810)Ggg>Cgg p.G270R ZADH2_ENST00000537114.2_Missense_Mutation_p.G147R NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 270 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) GAGATAAACCCTATTACTATC 0.512000 23 43 0 0 1 0 0 DDX41 51428 broad.mit.edu 37 5 176940447 176940447 + Silent SNP C C T rs144382614 TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr5:176940447C>T ENST00000507955.1 - 11 1660 c.1137G>A c.(1135-1137)ccG>ccA p.P379P NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 379 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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;0.191) GAATCTTCTTCGGCATGGTGG 0.617000 81 130 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr15:90631838C>T ENST00000330062.3 - 4 628 c.515G>A c.(514-516)aGg>aAg p.R172K IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172K(116)|p.R172M(21)|p.R172N(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) ATGGGCGTGCCTGCCAATGGT 0.632000 M GBM 25 34 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89924557 89924557 + Missense_Mutation SNP G G A TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr5:89924557G>A ENST00000405460.2 + 8 1513 c.1417G>A c.(1417-1419)Gat>Aat p.D473N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 473 Calx-beta 4. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TACTGTGGTTGATGATGATCT 0.478000 20 55 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138195987 138195987 + Missense_Mutation SNP G G A TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr6:138195987G>A ENST00000237289.4 + 3 367 c.301G>A c.(301-303)Ggc>Agc p.G101S NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 101 OTU.|TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.G101fs*38(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CTCAGGTGACGGCAATTGCCT 0.488000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 3 58 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 54 0 0 1 0 0 ERVW-1 0 broad.mit.edu 37 7 92098171 92098171 + Nonsense_Mutation SNP G G A rs151180490 byFrequency TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr7:92098171G>A ENST00000493463.2 - 1 2448 c.1525C>T c.(1525-1527)Cga>Tga p.R509* ERVW-1_ENST00000604270.1_5'UTR|ERVW-1_ENST00000603053.1_Nonsense_Mutation_p.R509*|AC007566.10_ENST00000427458.1_RNA NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 509 syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 acatcagatcgtgggctagca 0.517000 6 102 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595107 36595107 + Missense_Mutation SNP C C T TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr11:36595107C>T ENST00000299440.5 + 2 365 c.253C>T c.(253-255)Cct>Tct p.P85S NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 85 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) AAAAGCCCACCCTAAGTTTTC 0.488000 Familial Hemophagocytic Lymphohistiocytosis 23 56 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155034402 155034402 + Missense_Mutation SNP A A G TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr1:155034402A>G ENST00000356955.2 + 21 2476 c.2375A>G c.(2374-2376)aAt>aGt p.N792S ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.N767S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.N791S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000355956.2_Intron NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 792 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GACCGACCCAATCCCCCTACC 0.647000 OREG0013848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 82 0 0 1 0 0 MAK16 84549 broad.mit.edu 37 8 33346581 33346581 + Nonsense_Mutation SNP C C T TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr8:33346581C>T ENST00000360128.6 + 5 773 c.316C>T c.(316-318)Cga>Tga p.R106* TTI2_ENST00000519356.1_Intron NM_032509.3 NP_115898.2 Q9BXY0 MAK16_HUMAN MAK16 homolog (S. cerevisiae) 106 nucleolus endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1) 8 CCGTTTCATTCGACACAAATG 0.373000 26 48 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 5 118 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 3 24 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98928369 98928369 + Missense_Mutation SNP G G T TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr2:98928369G>T ENST00000477737.1 + 27 3813 c.3609G>T c.(3607-3609)gaG>gaT p.E1203D VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1203 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CAAGACGAGAGAAGCCCAGGA 0.612000 3 9 0.150653 0.150653 1 1 0 EAF2 55840 broad.mit.edu 37 3 121554193 121554193 + Nonsense_Mutation SNP G G T TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr3:121554193G>T ENST00000273668.2 + 1 132 c.61G>T c.(61-63)Gag>Tag p.E21* EAF2_ENST00000465664.1_3'UTR|EAF2_ENST00000451944.2_Nonsense_Mutation_p.E21* NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 21 Necessary for interaction with ELL. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) CAAGTTAGGGGAGAGTTTCGA 0.592000 12 18 5.50884e-06 5.85314e-06 1 1 0 C3orf30 152405 broad.mit.edu 37 3 118865903 118865903 + Silent SNP G G A TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr3:118865903G>A ENST00000295622.1 + 1 907 c.867G>A c.(865-867)caG>caA p.Q289Q NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 289 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) CTTCTGAGCAGACTGACCTCA 0.493000 3 42 0 0 1 0 0 AC073321.4 0 broad.mit.edu 37 2 217475031 217475032 + RNA INS - - A rs71401156 TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr2:217475031_217475032insA ENST00000441803.1 + 0 195 AATTTTATTTCAAAAAAAAAAA 0.376 3 5 --- --- --- --- PBX2P1 0 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 4 2 --- --- --- --- SYNPO 11346 broad.mit.edu 37 5 150036401 150036401 + Frame_Shift_Del DEL C C - TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr5:150036401delC ENST00000307662.4 + 3 2993 c.2464delC c.(2464-2466)ccfs p.P822fs NM_007286.5 NP_009217.3 Q8N3V7 SYNPO_HUMAN synaptopodin 878 Pro-rich. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCCTTCGCGCCCATCCCGCG 0.821 2 4 --- --- --- --- BUD31 8896 broad.mit.edu 37 7 99015057 99015058 + Frame_Shift_Del DEL TA TA - TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr7:99015057_99015058delTA ENST00000403633.2 + 5 752_753 c.223_224delTA c.(223-225)tfs p.Y75fs PTCD1_ENST00000292478.4_3'UTR|BUD31_ENST00000456893.1_Frame_Shift_Del_p.Y34fs|BUD31_ENST00000431419.1_Frame_Shift_Del_p.Y46fs|BUD31_ENST00000222969.5_Frame_Shift_Del_p.Y75fs P41223 BUD31_HUMAN BUD31 homolog (S. cerevisiae) 75 YEYCI -> LDICY (in Ref. 1; AAA20008). regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1) 4 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GACAGAACTCTATGAATATTGT 0.436 14 37 --- --- --- --- CRYBB2P1 0 broad.mit.edu 37 22 25855682 25855683 + RNA INS - - GTGT rs72063487 by1000genomes TCGA-P5-A730-01A-11D-A32B-08 TCGA-P5-A730-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8be88dff-3e17-4c99-a334-a9cc7c045ba2 c6b43adc-7b1f-44df-bea6-9448d31209c4 g.chr22:25855682_25855683insGTGT ENST00000354451.2 + 0 366 CCTGGCAGCTGgtgtgtgtgtg 0.530 4 4 --- --- --- ---