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 DRP2 1821 broad.mit.edu 37 X 100513328 100513328 + Silent SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chrX:100513328G>A ENST00000395209.3 + 22 2948 c.2421G>A c.(2419-2421)aaG>aaA p.K807K DRP2_ENST00000402866.1_Silent_p.K807K|DRP2_ENST00000541709.1_Silent_p.K729K|DRP2_ENST00000538510.1_Silent_p.K807K NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 807 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 GGCGCCTGAAGTGGCAGCATG 0.602000 2 4 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 3 67 0 0 1 0 0 LRFN2 57497 broad.mit.edu 37 6 40360553 40360553 + Missense_Mutation SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr6:40360553G>A ENST00000338305.6 - 3 2041 c.1499C>T c.(1498-1500)aCg>aTg p.T500M NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 500 Fibronectin type-III. cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CGTGAGTGTCGTGGCTGTGTC 0.602000 11 25 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597064 36597064 + Missense_Mutation SNP G G A rs104894286 TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr11:36597064G>A ENST00000299440.5 + 2 2322 c.2210G>A c.(2209-2211)cGt>cAt p.R737H NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 737 R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507). 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) GATGCCACCCGTCTGGAAGCC 0.502000 Familial Hemophagocytic Lymphohistiocytosis 15 31 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41154017 41154017 + Missense_Mutation SNP C C T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr5:41154017C>T ENST00000263413.3 - 15 2449 c.2185G>A c.(2185-2187)Gag>Aag p.E729K C6_ENST00000337836.5_Missense_Mutation_p.E729K NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 729 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CAAGTTAGCTCAATGGATTCA 0.478000 17 48 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22174288 22174288 + Missense_Mutation SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr1:22174288G>A ENST00000374695.3 - 61 7998 c.7919C>T c.(7918-7920)aCg>aTg p.T2640M HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2640 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TTCCACCACCGTGGGGGAAGA 0.627000 3 34 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5416266 5416266 + Missense_Mutation SNP G G T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr18:5416266G>T ENST00000341928.2 - 13 1958 c.1618C>A c.(1618-1620)Cca>Aca p.P540T EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 540 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TCATAACCTGGCAGTTTGCAG 0.582000 25 73 1.75199e-13 1.86878e-13 1 1 0 AC226119.5 0 broad.mit.edu 37 4 3949896 3949896 + RNA SNP C C T rs113093629 TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr4:3949896C>T ENST00000281228.8 - 0 395 FAM86EP_ENST00000313946.8_RNA CCTGTGGTGCCGTGGGAGATG 0.617000 6 25 0 0 1 0 0 LRRC3 81543 broad.mit.edu 37 21 45877185 45877185 + Missense_Mutation SNP G G A rs144515231 TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr21:45877185G>A ENST00000291592.4 + 2 975 c.658G>A c.(658-660)Gcc>Acc p.A220T NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 220 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) CATGGTGATCGCCTACGTCGT 0.642000 3 90 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74467265 74467265 + Silent SNP C C T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr15:74467265C>T ENST00000249842.3 + 2 423 c.66C>T c.(64-66)ccC>ccT p.P22P ISLR_ENST00000395118.1_Silent_p.P22P|RP11-665J16.1_ENST00000561647.1_RNA NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 22 LRRNT. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GCCCTGAGCCCTGCGACTGTG 0.627000 13 34 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60060259 60060259 + Missense_Mutation SNP T T A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr17:60060259T>A ENST00000397786.2 - 16 3181 c.3105A>T c.(3103-3105)aaA>aaT p.K1035N NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1035 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AATTTTCATATTTGACTGAAC 0.507000 17 37 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48745031 48745031 + Silent SNP C C A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr17:48745031C>A ENST00000285238.8 + 12 1628 c.1548C>A c.(1546-1548)ggC>ggA p.G516G ABCC3_ENST00000427699.1_Silent_p.G516G NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 516 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AGGTGGAGGGCATCAGGCAGG 0.612000 5 59 1 1 1 1 0 ZNF433 163059 broad.mit.edu 37 19 12126896 12126896 + Silent SNP T T C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr19:12126896T>C ENST00000419886.2 - 5 972 c.681A>G c.(679-681)gcA>gcG p.A227A CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Silent_p.A262A|CTD-2006C1.2_ENST00000476474.1_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 AACTATGGAATGCTTTCCCAC 0.418000 20 46 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152322042 152322042 + Missense_Mutation SNP A A C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr2:152322042A>C ENST00000243326.4 + 29 6491 c.6008A>C c.(6007-6009)aAt>aCt p.N2003T RIF1_ENST00000444746.2_Missense_Mutation_p.N2003T|RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T|RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 2003 Interaction with condensed chromosomes in telophase. cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GATGGAGGAAATGATGTATCT 0.368000 8 15 0 0 1 0 0 KIF25 0 broad.mit.edu 37 6 168430272 168430272 + Missense_Mutation SNP T T A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr6:168430272T>A ENST00000443060.2 + 3 398 c.7T>A c.(7-9)Tgg>Agg p.W3R KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R Q9UIL4 KIF25_HUMAN kinesin family member 25 3 Kinesin-motor. microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.W3R(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) CCAGATGACATGGACCTCAGG 0.612000 3 144 0 0 1 0 0 GTF2E2 2961 broad.mit.edu 37 8 30437879 30437879 + Missense_Mutation SNP A A C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr8:30437879A>C ENST00000355904.4 - 7 960 c.678T>G c.(676-678)gaT>gaG p.D226E NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 226 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CGTCCATGGAATCTACAGTGA 0.373000 28 59 0 0 1 0 0 SH2D4A 63898 broad.mit.edu 37 8 19218826 19218826 + Splice_Site SNP G G A rs145746072 byFrequency TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr8:19218826G>A ENST00000265807.3 + 6 1117 c.e6+1 SH2D4A_ENST00000518040.1_Splice_Site|SH2D4A_ENST00000519207.1_Splice_Site NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) CAGGCATCTCGTGAGTACCCA 0.418000 4 11 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38907252 38907252 + Missense_Mutation SNP C C T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr17:38907252C>T ENST00000312150.4 - 5 971 c.911G>A c.(910-912)cGc>cAc p.R304H NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 304 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTGAAGAGTGCGCTTCATTTC 0.473000 11 100 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44547502 44547502 + Missense_Mutation SNP C C G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr2:44547502C>G ENST00000260649.6 + 10 1858 c.1782C>G c.(1780-1782)atC>atG p.I594M SLC3A1_ENST00000409740.3_Missense_Mutation_p.I225M|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.I316M NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 594 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) GAATCTTTATCGTGGTTCTGA 0.423000 18 67 0 0 1 0 0 BIRC2 329 broad.mit.edu 37 11 102248361 102248361 + Missense_Mutation SNP C C G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr11:102248361C>G ENST00000227758.2 + 7 2900 c.1501C>G c.(1501-1503)Cag>Gag p.Q501E BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E|BIRC2_ENST00000527910.1_3'UTR NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 501 CARD. cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) ACAAAAAACACAGATACCTTT 0.333000 12 19 0 0 1 0 0 C19orf44 84167 broad.mit.edu 37 19 16620545 16620545 + Missense_Mutation SNP A A G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr19:16620545A>G ENST00000221671.3 + 5 1541 c.1385A>G c.(1384-1386)aAc>aGc p.N462S C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S|CTD-3222D19.2_ENST00000409035.1_Intron NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 462 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 CCCATGGTGAACACAGTCAGC 0.547000 20 33 0 0 1 0 0 CTC-340A15.2 0 broad.mit.edu 37 5 164028104 164028104 + RNA SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr5:164028104G>A ENST00000486913.3 + 0 282 CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA CGCCCAGGTCGTGGCCGATCA 0.602000 4 15 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547651 125547651 + Silent SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr2:125547651G>A ENST00000431078.1 + 18 3286 c.2922G>A c.(2920-2922)gtG>gtA p.V974V NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 974 EGF-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GCAAGTGTGTGGAGAAGCACA 0.557000 16 22 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023607 18023607 + Missense_Mutation SNP C C T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr17:18023607C>T ENST00000205890.5 + 2 1831 c.1493C>T c.(1492-1494)cCa>cTa p.P498L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 498 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GTGCCCCTGCCACCCTCTCTG 0.642000 17 37 0 0 1 0 0 BDKRB1 0 broad.mit.edu 37 14 96730362 96730362 + Missense_Mutation SNP G G C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr14:96730362G>C ENST00000216629.6 + 3 949 c.343G>C c.(343-345)Ggg>Cgg p.G115R RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 115 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TGTCATCAACGGGGTCATCAA 0.572000 24 90 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 5 87 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33686339 33686339 + Missense_Mutation SNP A A G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr3:33686339A>G ENST00000399362.4 - 8 1125 c.772T>C c.(772-774)Tca>Cca p.S258P CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P|CLASP2_ENST00000468888.2_Missense_Mutation_p.S258P|CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 258 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TTGAAGGCTGATGCAGCTGAT 0.438000 2 10 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 6 60 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10088375 10088375 + Silent SNP G G T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr19:10088375G>T ENST00000264828.3 - 42 3106 c.3021C>A c.(3019-3021)ggC>ggA p.G1007G NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1007 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CACCAGGGGAGCCCTGAGAAC 0.572000 5 11 0.000602214 0.000628398 1 1 0 ANKRD36BP2 0 broad.mit.edu 37 2 89084114 89084114 + RNA SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr2:89084114G>A ENST00000393525.3 + 0 576 TTGCTTTTCAGTGTCTTCTCA 0.313000 5 65 0 0 1 0 0 KIAA1614 57710 broad.mit.edu 37 1 180907822 180907822 + Missense_Mutation SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr1:180907822G>A ENST00000367588.4 + 6 2948 c.2893G>A c.(2893-2895)Gga>Aga p.G965R KIAA1614_ENST00000367587.1_Missense_Mutation_p.G586R NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 965 Ser-rich. NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 GACAGGGTCAGGATCTGGAGG 0.582000 3 49 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112480078 112480078 + Missense_Mutation SNP G G A rs137893207 TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr6:112480078G>A ENST00000230538.7 - 14 2070 c.1673C>T c.(1672-1674)gCg>gTg p.A558V LAMA4_ENST00000424408.2_Missense_Mutation_p.A551V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A551V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000585373.1_RNA NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 558 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.A551V(2) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AATCCCTGACGCATTCTAAAG 0.303000 6 21 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46303813 46303813 + Missense_Mutation SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr19:46303813G>A ENST00000221538.3 - 5 1949 c.1807C>T c.(1807-1809)Cac>Tac p.H603Y RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y|RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 603 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GGTGCCAGGTGCATGATTTCT 0.667000 12 36 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102052799 102052799 + Missense_Mutation SNP G G A rs147248969 TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr10:102052799G>A ENST00000318222.3 - 11 2168 c.1786C>T c.(1786-1788)Cgt>Tgt p.R596C PKD2L1_ENST00000338519.3_Missense_Mutation_p.R521C|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R596C NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 596 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TTCCTCAGACGCAGTCTTAGT 0.547000 16 54 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220273972 220273972 + Silent SNP T T C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr1:220273972T>C ENST00000366922.1 + 3 646 c.315T>C c.(313-315)gcT>gcC p.A105A IARS2_ENST00000302637.5_Silent_p.A177A Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 177 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) ATCTTTCAGCTATGGAAATTA 0.348000 19 28 0 0 1 0 0 ATP5A1 498 broad.mit.edu 37 18 43666432 43666432 + Missense_Mutation SNP T T C TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr18:43666432T>C ENST00000593152.2 - 9 1594 c.1055A>G c.(1054-1056)aAa>aGa p.K352R ATP5A1_ENST00000398752.6_Missense_Mutation_p.K402R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R|ATP5A1_ENST00000590665.1_Missense_Mutation_p.K380R NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 402 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 GCGGATACCTTTGTAGAACAA 0.408000 10 20 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296626 39296626 + Silent SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr17:39296626G>A ENST00000345847.4 - 1 113 c.114C>T c.(112-114)ccC>ccT p.P38P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 38 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CACAGCAGCTGGGGCGGCAGC 0.667000 3 125 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54314362 54314362 + Missense_Mutation SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr19:54314362G>A ENST00000324134.6 - 3 719 c.551C>T c.(550-552)gCg>gTg p.A184V NLRP12_ENST00000391773.1_Missense_Mutation_p.A184V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A184V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A184V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A184V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A184V NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 184 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CACGGTCCTCGCGTGTCCCCG 0.647000 20 63 0 0 1 0 0 POLD3 10714 broad.mit.edu 37 11 74303721 74303721 + Nonsense_Mutation SNP T T G TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr11:74303721T>G ENST00000263681.2 + 1 147 c.18T>G c.(16-18)taT>taG p.Y6* POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame|POLD3_ENST00000527458.1_De_novo_Start_InFrame|POLD3_ENST00000532784.1_3'UTR NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 6 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) ACCAGCTTTATCTGGAAAATA 0.622000 9 11 0 0 1 0 0 MTDH 92140 broad.mit.edu 37 8 98657100 98657100 + Silent SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr8:98657100G>A ENST00000336273.3 + 1 694 c.366G>A c.(364-366)ctG>ctA p.L122L MTDH_ENST00000519934.1_Silent_p.L99L NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 122 Interaction with BCCIP.|Interaction with RELA. lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) GGAAGAAACTGTCCGAGAAGC 0.672000 3 8 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371422 240371422 + Missense_Mutation SNP G G A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr1:240371422G>A ENST00000319653.9 + 5 3540 c.3310G>A c.(3310-3312)Gga>Aga p.G1104R NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1104 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCTCTACCCGGAGTGGGCAT 0.736000 42 159 0 0 1 0 0 TBC1D24 57465 broad.mit.edu 37 16 2550269 2550269 + Splice_Site SNP C C A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr16:2550269C>A ENST00000567020.1 + 6 1425 c.1284_splice c.e6-1 p.L429_splice TBC1D24_ENST00000434757.2_Splice_Site_p.L435_splice|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Splice_Site_p.L435_splice NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 435 TLD. neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 TCCACCCCAGCTGCAGCCTGA 0.672000 5 17 1 1 1 1 0 CASZ1 54897 broad.mit.edu 37 1 10699168 10699170 + In_Frame_Del DEL TCG TCG - TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr1:10699168_10699170delTCG ENST00000377022.3 - 21 5426_5428 c.5109_5111delCGA c.(5107-5112)gag>ga p.DE1703del NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 1703 Asp-rich.|Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) gtcgtcgtcctcgtcgtcgtcgt 0.734 2 4 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 3 4 --- --- --- --- HELQ 113510 broad.mit.edu 37 4 84375053 84375060 + Frame_Shift_Del DEL TAAAGCTA TAAAGCTA - TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr4:84375053_84375060delTAAAGCTA ENST00000295488.3 - 2 498_505 c.336_343delTAGCTTTA c.(334-345)gactfs p.DSFT112fs HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_Frame_Shift_Del_p.DSFT112fs NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 112 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 GAGTTTTCAGTAAAGCTATCATAGTCAC 0.375 Other identified genes with known or suspected DNA repair function 27 135 --- --- --- --- DDX60L 91351 broad.mit.edu 37 4 169325133 169325133 + Splice_Site DEL A A - TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr4:169325133delA ENST00000511577.1 - 25 3585 c.3338_splice c.e25+1 p.L1113_splice DDX60L_ENST00000260184.7_Splice_Site_p.L1113_splice|DDX60L_ENST00000505890.1_Splice_Site_p.L1113_splice Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1113 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) AGTTACTTACAAAAAAAATAT 0.274 3 3 --- --- --- --- PAXIP1 22976 broad.mit.edu 37 7 154782739 154782740 + Frame_Shift_Ins INS - - A TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr7:154782739_154782740insA ENST00000404141.1 - 4 454_455 c.300_301insT c.(298-303)ttgaatfs p.LN100fs PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.LN100fs|PAXIP1_ENST00000473219.1_5'UTR Q6ZW49 PAXI1_HUMAN PAX interacting (with transcription-activation domain) protein 1 100 BRCT 2.|Interaction with PA1 (By similarity). DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) GCAGTGATTCCAAAAAAAATCT 0.332 3 6 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 2 4 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78593154 78593155 + Frame_Shift_Ins INS - - T TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr12:78593154_78593155insT ENST00000397909.2 + 37 6731_6732 c.6558_6559insT c.(6556-6561)ggttttfs p.GF2186fs NAV3_ENST00000266692.7_Frame_Shift_Ins_p.GF1987fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.GF2164fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.GF2164fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.GF16fs Q8IVL0 NAV3_HUMAN neuron navigator 3 2186 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAGTGAAAGGCTTTTTAGGCAG 0.302 HNSCC(70;0.22) 8 92 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 4 5 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19237548 19237548 + Frame_Shift_Del DEL C C - TCGA-J4-8198-01A-11D-2260-08 TCGA-J4-8198-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 686d289d-fcb7-456e-833f-11f3b2d5a361 5050d3e5-3b45-4d06-b454-7ccd753837dc g.chr17:19237548delC ENST00000314728.5 + 11 2391 c.1907delC c.(1906-1908)acfs p.T636fs EPN2_ENST00000571254.1_Frame_Shift_Del_p.T572fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.T579fs|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000575595.1_Frame_Shift_Del_p.T344fs|EPN2_ENST00000395618.3_Frame_Shift_Del_p.T351fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.T579fs NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 636 3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) ACTGGCACAACCAACCCTTTC 0.622 2 4 --- --- --- ---