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 GABRB3 2562 broad.mit.edu 37 15 26806094 26806094 + Missense_Mutation SNP C C G TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:26806094C>G ENST00000541819.2 - 9 1335 c.1233G>C c.(1231-1233)aaG>aaC p.K411N GABRB3_ENST00000545868.1_Missense_Mutation_p.K270N|GABRB3_ENST00000299267.4_Missense_Mutation_p.K355N|GABRB3_ENST00000311550.5_Missense_Mutation_p.K355N|GABRB3_ENST00000400188.3_Missense_Mutation_p.K284N P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 355 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGCTTTCGCTCTTTGAACGGT 0.473000 3 178 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 3 56 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30001016 30001016 + Missense_Mutation SNP T T C TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:30001016T>C ENST00000346128.6 - 25 5071 c.4597A>G c.(4597-4599)Aca>Gca p.T1533A TJP1_ENST00000545208.2_Missense_Mutation_p.T1453A|TJP1_ENST00000400011.2_Missense_Mutation_p.T1457A|TJP1_ENST00000356107.6_Missense_Mutation_p.T1533A NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1533 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GCAGAACTTGTATATGGTTTT 0.403000 5 305 0 0 1 0 0 C1orf210 149466 broad.mit.edu 37 1 43748745 43748745 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr1:43748745G>A ENST00000523677.1 - 3 286 c.53C>T c.(52-54)tCt>tTt p.S18F C1orf210_ENST00000423420.1_Missense_Mutation_p.S18F NM_001164829.1|NM_182517.2 NP_001158301.1|NP_872323.1 Q8IVY1 CA210_HUMAN chromosome 1 open reading frame 210 18 integral to membrane breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGCCACAGCAGACGCTGTGGG 0.627000 5 21 0 0 1 0 0 SIRPD 128646 broad.mit.edu 37 20 1532407 1532407 + Nonsense_Mutation SNP G G T TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr20:1532407G>T ENST00000381623.3 - 2 1540 c.351C>A c.(349-351)tgC>tgA p.C117* SIRPD_ENST00000381621.1_Nonsense_Mutation_p.C117* Q9H106 SIRPD_HUMAN signal-regulatory protein delta 117 Ig-like V-type. extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 TGAACTTCACGCAGTAATAGG 0.493000 3 98 1 1 1 1 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 5 64 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810698 7810698 + Missense_Mutation SNP A A G TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr19:7810698A>G ENST00000315599.7 - 4 476 c.454T>C c.(454-456)Tgg>Cgg p.W152R CD209_ENST00000204801.8_Missense_Mutation_p.W108R|CD209_ENST00000602261.1_Missense_Mutation_p.W152R|CD209_ENST00000301357.8_Intron|CD209_ENST00000593821.1_Missense_Mutation_p.W108R|CD209_ENST00000593660.1_Missense_Mutation_p.W128R|CD209_ENST00000394161.5_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.W128R|CD209_ENST00000354397.6_Missense_Mutation_p.W152R|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.W128R|CD209_ENST00000315591.8_Missense_Mutation_p.W128R NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 152 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.W152R(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCAGGTCAGCTCC 0.557000 4 176 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39913841 39913841 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr19:39913841G>A ENST00000425673.1 + 16 2385 c.2060G>A c.(2059-2061)aGc>aAc p.S687N PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S716N|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S657N Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 716 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTTTCTGGGAGCAATCCTGGG 0.592000 3 88 0 0 1 0 0 CNGA1 1259 broad.mit.edu 37 4 47939187 47939187 + Missense_Mutation SNP A A G TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr4:47939187A>G ENST00000402813.3 - 10 1673 c.1531T>C c.(1531-1533)Tgg>Cgg p.W511R CNGA1_ENST00000358519.4_Missense_Mutation_p.W442R|CNGA1_ENST00000420489.2_Missense_Mutation_p.W442R|CNGA1_ENST00000544810.1_Missense_Mutation_p.W442R|CNGA1_ENST00000514170.1_Missense_Mutation_p.W442R P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 442 response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1) 28 TTGTTGGTCCACAGGTAGTCA 0.328000 5 122 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803480 142803480 + RNA SNP T T C TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr1:142803480T>C ENST00000423385.1 - 0 1485 GATTTTAATATTCTGTACATT 0.343000 7 39 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88658695 88658695 + Silent SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr14:88658695G>A ENST00000340700.5 - 5 1177 c.726C>T c.(724-726)gcC>gcT p.A242A KCNK10_ENST00000319231.5_Silent_p.A247A|KCNK10_ENST00000312350.5_Silent_p.A247A NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 242 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CAATGCAGCCGGCCAAGATGA 0.498000 10 293 0 0 1 0 0 TROAP 10024 broad.mit.edu 37 12 49724313 49724313 + Missense_Mutation SNP G G T TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr12:49724313G>T ENST00000551245.1 + 13 1796 c.1685G>T c.(1684-1686)aGt>aTt p.S562I TROAP_ENST00000257909.3_Missense_Mutation_p.S562I|TROAP_ENST00000547923.1_Missense_Mutation_p.S270I Q12815 TROAP_HUMAN trophinin associated protein 562 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm p.S562I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 TGCTGTAGGAGTGAGCCTGAG 0.592000 7 67 2.7689e-08 3.23038e-08 1 1 0 DNMT3A 1788 broad.mit.edu 37 2 25497865 25497865 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr2:25497865G>A ENST00000264709.3 - 6 921 c.584C>T c.(583-585)cCc>cTc p.P195L DNMT3A_ENST00000321117.5_Missense_Mutation_p.P195L NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 195 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGTAGTAGGGGTCCCCCGC 0.701000 """Mis, F, N, S""" AML 8 16 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17236415 17236415 + Silent SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr9:17236415G>A ENST00000380647.3 + 5 762 c.678G>A c.(676-678)aaG>aaA p.K226K CNTLN_ENST00000425824.1_Silent_p.K226K|CNTLN_ENST00000380641.4_Silent_p.K226K|CNTLN_ENST00000262360.5_Silent_p.K226K Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 226 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AGGACACTAAGGAGTGTGTAC 0.368000 11 45 0 0 1 0 0 LHX5 64211 broad.mit.edu 37 12 113907149 113907149 + Splice_Site SNP G G T TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr12:113907149G>T ENST00000261731.3 - 2 748 c.173_splice c.e2-1 p.R59_splice NM_022363.2 NP_071758.1 Q9H2C1 LHX5_HUMAN LIM homeobox 5 59 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 10 GTGCCAAAGCGCCTGTGGACA 0.632000 5 60 0.0293803 0.032473 1 1 0 PLA2G4F 255189 broad.mit.edu 37 15 42434347 42434347 + Missense_Mutation SNP C C A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:42434347C>A ENST00000397272.3 - 20 2482 c.2391G>T c.(2389-2391)agG>agT p.R797S PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R795S NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 795 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GGGTGTCTGGCCTGTTGATGA 0.567000 3 64 1 1 1 1 0 SLC26A8 116369 broad.mit.edu 37 6 35923195 35923195 + Missense_Mutation SNP C C G TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr6:35923195C>G ENST00000490799.1 - 17 2319 c.1966G>C c.(1966-1968)Gca>Cca p.A656P SLC26A8_ENST00000394602.2_Missense_Mutation_p.A551P|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A656P NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 656 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 TCTTCGGATGCAGTTTGGCTT 0.443000 49 75 0 0 1 0 0 CCDC174 51244 broad.mit.edu 37 3 14706561 14706561 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr3:14706561G>A ENST00000383794.3 + 6 585 c.512G>A c.(511-513)cGt>cAt p.R171H CCDC174_ENST00000303688.7_Missense_Mutation_p.R171H NM_016474.4 NP_057558.3 coiled-coil domain containing 174 TCTTTGGGGCGTTCCCGGCGC 0.473000 4 173 0 0 1 0 0 RPL23AP53 0 broad.mit.edu 37 8 163279 163279 + RNA SNP T T A rs118081799 by1000genomes TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr8:163279T>A ENST00000606975.1 - 0 642 CATCCAAAGCTTCATAATCAG 0.388000 4 33 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214820611 214820611 + Silent SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr1:214820611G>A ENST00000366955.3 + 13 7866 c.7698G>A c.(7696-7698)gaG>gaA p.E2566E NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2662 2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGGAATTGGAGCAGAAGATCC 0.433000 3 76 0 0 1 0 0 VWA9 81556 broad.mit.edu 37 15 65877142 65877142 + Missense_Mutation SNP T T C TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:65877142T>C ENST00000395644.4 - 10 1540 c.1205A>G c.(1204-1206)aAt>aGt p.N402S VWA9_ENST00000313182.2_Missense_Mutation_p.N402S|VWA9_ENST00000569491.1_Missense_Mutation_p.N352S|VWA9_ENST00000420799.2_Missense_Mutation_p.N345S|VWA9_ENST00000442903.3_Missense_Mutation_p.N366S|VWA9_ENST00000431261.2_Missense_Mutation_p.N323S|VWA9_ENST00000567744.1_Missense_Mutation_p.N438S von Willebrand factor A domain containing 9 GACAGTCACATTCTGGGCATA 0.468000 14 26 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457580 110457580 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr8:110457580G>A ENST00000378402.5 + 38 5586 c.5482G>A c.(5482-5484)Gtc>Atc p.V1828I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1828 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AAACCTGACTGTCAGCAGCCC 0.493000 HNSCC(38;0.096) 4 76 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 83 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013276 73013276 + Missense_Mutation SNP A A G TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr4:73013276A>G ENST00000308744.6 + 4 1414 c.1316A>G c.(1315-1317)aAc>aGc p.N439S NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.N337S|NPFFR2_ENST00000395999.1_Missense_Mutation_p.N340S NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 439 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GGTTTCTTCAACGAGAATTTC 0.453000 24 65 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080274 126080274 + Missense_Mutation SNP G G A TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr6:126080274G>A ENST00000368364.3 + 5 537 c.340G>A c.(340-342)Gca>Aca p.A114T HEY2_ENST00000368365.1_Missense_Mutation_p.A68T NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 114 Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding p.A114P(1)|p.A114T(1) breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) CTACTTTGACGCACACGCTCT 0.527000 3 74 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304884 102304884 + RNA SNP G G C rs143982735 by1000genomes TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:102304884G>C ENST00000561463.1 + 0 12930 GCGTGGGAACGAGAAGACACT 0.562000 3 13 0 0 1 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443821 81443821 + RNA SNP C C G rs150975459 by1000genomes TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr10:81443821C>G ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GCAGCACCATCGCCTCAGACC 0.612000 3 33 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38319961 38319961 + Missense_Mutation SNP G G A rs139973585 TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr17:38319961G>A ENST00000264645.7 + 7 1239 c.1013G>A c.(1012-1014)cGg>cAg p.R338Q NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 338 mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CATGGTGGCCGGTCTGGTGAG 0.552000 4 228 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 84 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227843206 227843206 + Missense_Mutation SNP C C T TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr1:227843206C>T ENST00000343776.4 + 4 1600 c.1255C>T c.(1255-1257)Cac>Tac p.H419Y ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H474Y F5GXA7 F5GXA7_HUMAN zinc finger protein 678 474 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) ACAGTGCTCTCACCTAACTAG 0.368000 3 57 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65739246 65739246 + Silent SNP A A C TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:65739246A>C ENST00000341861.5 - 20 4253 c.2673T>G c.(2671-2673)cgT>cgG p.R891R DPP8_ENST00000358939.4_Silent_p.R775R|DPP8_ENST00000339244.5_Silent_p.R718R|DPP8_ENST00000321147.6_Silent_p.R840R|DPP8_ENST00000300141.6_Silent_p.R875R|DPP8_ENST00000321118.7_Silent_p.R842R|DPP8_ENST00000559233.1_Silent_p.R891R NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 891 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GAGCAGCAATACGTGATCCAA 0.388000 53 61 0 0 1 0 0 LILRB4 0 broad.mit.edu 37 19 55179377 55179377 + Missense_Mutation SNP T T G rs149600113 TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr19:55179377T>G ENST00000391736.1 + 14 1569 c.1254T>G c.(1252-1254)ttT>ttG p.F418L LILRB4_ENST00000391733.3_Missense_Mutation_p.F419L|LILRB4_ENST00000391734.3_Missense_Mutation_p.F365L|LILRB4_ENST00000270452.2_Missense_Mutation_p.F418L|LILRB4_ENST00000430952.2_Missense_Mutation_p.F417L NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 418 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TGCACAGCTTTACCCTCAGAC 0.627000 3 135 0 0 1 0 0 SLC26A10 65012 broad.mit.edu 37 12 58016597 58016597 + Silent SNP G G T TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr12:58016597G>T ENST00000379218.2 + 6 1130 c.819G>T c.(817-819)ctG>ctT p.L273L SLC26A10_ENST00000320442.4_Silent_p.L273L Q8NG04 S2610_HUMAN solute carrier family 26, member 10 273 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) TCCCCAACCTGGCTGAGCTGC 0.567000 6 155 3.09899e-07 3.51777e-07 1 1 0 ZNF493 284443 broad.mit.edu 37 19 21606544 21606544 + Silent SNP C C T TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr19:21606544C>T ENST00000392288.2 + 4 1192 c.1083C>T c.(1081-1083)tcC>tcT p.S361S CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S233S NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCCTCACACCTTA 0.358000 4 55 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65425588 65425588 + Silent SNP C C T rs139785185 TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr3:65425588C>T ENST00000330909.8 - 9 1235 c.1236G>A c.(1234-1236)caG>caA p.Q412Q MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 412 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgttgctgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 39 0 0 1 0 0 TMEM88B 643965 broad.mit.edu 37 1 1361531 1361533 + In_Frame_Del DEL GGA GGA - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr1:1361531_1361533delGGA ENST00000378821.3 + 1 24_26 c.24_26delGGA c.(22-27)acg>ac p.TE8del NM_001146685.1 NP_001140157.1 A6NKF7 TM88B_HUMAN transmembrane protein 88B 8 Poly-Glu. integral to membrane GGAGGGAGACGGAGGAGGAGGAG 0.700 2 4 --- --- --- --- EVX2 344191 broad.mit.edu 37 2 176944986 176944988 + In_Frame_Del DEL CCG CCG - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr2:176944986_176944988delCCG ENST00000308618.4 - 3 1414_1416 c.1278_1280delCGG c.(1276-1281)ggg>gg p.GG426del NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 426 Poly-Gly. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) Cccggcgcccccgccgccgccgc 0.783 2 4 --- --- --- --- UBE2W 55284 broad.mit.edu 37 8 74717937 74717937 + Frame_Shift_Del DEL A A - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr8:74717937delA ENST00000517608.1 - 5 478 c.478delT c.(478-480)atfs p.Y160fs UBE2W_ENST00000453587.2_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.Y142fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000602593.1_Frame_Shift_Del_p.Y131fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.Y171fs Q96B02 UBE2W_HUMAN ubiquitin-conjugating enzyme E2W (putative) 131 protein K11-linked ubiquitination|protein monoubiquitination ATP binding|protein binding|ubiquitin-protein ligase activity kidney(1)|lung(1) 2 Breast(64;0.0311) Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069) GTTCGCACATAAAAAGAATTA 0.299 2 4 --- --- --- --- HSF1 3297 broad.mit.edu 37 8 145515453 145515454 + Frame_Shift_Ins INS - - GG TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr8:145515453_145515454insGG ENST00000528838.1 + 1 174_175 c.14_15insGG c.(13-15)gggfs p.G5fs NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 5 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) GATCTGCCCGTgggccccggcg 0.728 2 4 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 10 406 --- --- --- --- APEX1 328 broad.mit.edu 37 14 20923820 20923820 + Frame_Shift_Del DEL A A - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr14:20923820delA ENST00000216714.3 + 2 284 c.16delA c.(16-18)aafs p.K7fs APEX1_ENST00000557365.1_Intron|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 7 Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli. base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) GAAGCGTGGGAAAAAGGGAGC 0.557 Other BER factors 8 284 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25328849 25328850 + RNA DEL AG AG - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:25328849_25328850delAG ENST00000546682.1 + 0 320 SNHG14_ENST00000549804.2_RNA NR_003361.1 ATCAGGGGCTAGAGAGAGAGAC 0.460 8 135 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45755307 45755309 + RNA DEL CAC CAC - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr15:45755307_45755309delCAC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA acatcaccatcaccaccaccacc 0.596 3 5 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 7 2 --- --- --- --- NUMBL 9253 broad.mit.edu 37 19 41179384 41179384 + Frame_Shift_Del DEL C C - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr19:41179384delC ENST00000252891.4 - 8 1068 c.901delG c.(901-903)ttfs p.V301fs NUMBL_ENST00000540131.1_Frame_Shift_Del_p.V260fs|NUMBL_ENST00000598779.1_Frame_Shift_Del_p.V260fs NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 301 cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) CCCTGGCGAACCAGCTGCTCC 0.657 2 4 --- --- --- --- SYNDIG1 79953 broad.mit.edu 37 20 24524183 24524185 + In_Frame_Del DEL GGA GGA - TCGA-FY-A3NM-01A-11D-A21A-08 TCGA-FY-A3NM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1ddc14-ba55-4811-98e4-4f15657410e6 7b5118e4-3bde-4fce-a1a3-81798b30420f g.chr20:24524183_24524185delGGA ENST00000376862.3 + 2 1083_1085 c.450_452delGGA c.(448-453)gtg>gt p.VE150del NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 150 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CCTACGATGTGGAGGAGGAGGAG 0.547 7 292 --- --- --- ---