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 WASF3 10810 broad.mit.edu 37 13 27259959 27259959 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr13:27259959G>A ENST00000361042.4 + 10 1702 c.1477G>A c.(1477-1479)Gac>Aac p.D493N WASF3_ENST00000335327.5_Missense_Mutation_p.D496N Q9UPY6 WASF3_HUMAN WAS protein family, member 3 496 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CTCAGAGTTCGACGAGAACGA 0.592000 18 21 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156883853 156883853 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:156883853G>A ENST00000338302.3 + 23 3148 c.2923G>A c.(2923-2925)Gac>Aac p.D975N PEAR1_ENST00000292357.7_Missense_Mutation_p.D975N Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 975 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCACAGAGAGACAGTGGCAC 0.627000 8 18 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216251612 216251612 + Silent SNP A A G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:216251612A>G ENST00000366943.2 - 27 5777 c.5391T>C c.(5389-5391)aaT>aaC p.N1797N USH2A_ENST00000307340.3_Silent_p.N1797N|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1797 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCCACTTTCCATTACAATAGG 0.418000 HNSCC(13;0.011) 12 357 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64395059 64395059 + Missense_Mutation SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:64395059C>G ENST00000262043.3 + 4 1776 c.1436C>G c.(1435-1437)tCt>tGt p.S479C PHF3_ENST00000509330.1_Missense_Mutation_p.S479C|PHF3_ENST00000393387.1_Missense_Mutation_p.S479C Q92576 PHF3_HUMAN PHD finger protein 3 479 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AGTAGCGTTTCTTACTTAGAG 0.358000 26 44 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91861942 91861942 + Nonsense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:91861942G>T ENST00000370425.3 - 3 190 c.92C>A c.(91-93)tCa>tAa p.S31* HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 31 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CCAATCCAATGACTTTTCATT 0.303000 29 55 7.26314e-15 8.32604e-15 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118527381 118527381 + Silent SNP A A G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:118527381A>G ENST00000336338.5 - 41 5759 c.5694T>C c.(5692-5694)aaT>aaC p.N1898N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1898 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCATTAGGTAATTCTGTGTTG 0.313000 15 29 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72211886 72211886 + Missense_Mutation SNP T T C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr8:72211886T>C ENST00000340726.3 - 8 1265 c.626A>G c.(625-627)aAt>aGt p.N209S EYA1_ENST00000303824.7_Missense_Mutation_p.N203S|EYA1_ENST00000388742.4_Missense_Mutation_p.N209S|EYA1_ENST00000388740.3_Missense_Mutation_p.N176S|EYA1_ENST00000419131.1_Missense_Mutation_p.N204S|EYA1_ENST00000388743.2_Missense_Mutation_p.N208S|EYA1_ENST00000388741.2_Missense_Mutation_p.N175S NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 209 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CTGTGAACTATTAAATCCAGA 0.274000 8 71 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2966213 2966213 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr8:2966213G>A ENST00000520002.1 - 45 7224 c.6669C>T c.(6667-6669)ctC>ctT p.L2223L CSMD1_ENST00000602557.1_Silent_p.L2223L|CSMD1_ENST00000400186.3_Silent_p.L2223L|CSMD1_ENST00000602723.1_Silent_p.L2223L|CSMD1_ENST00000537824.1_Silent_p.L2222L|CSMD1_ENST00000542608.1_Silent_p.L2222L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2223 CUB 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACGCCGTTTCGAGGGCTGTGT 0.498000 7 4 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72040797 72040797 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:72040797G>A ENST00000294053.3 - 7 1090 c.917C>T c.(916-918)gCc>gTc p.A306V CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 306 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 CCCTTCTCGGGCATAATCCAA 0.512000 7 221 0 0 1 0 0 RASGRP2 10235 broad.mit.edu 37 11 64497248 64497248 + Missense_Mutation SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:64497248C>A ENST00000377494.1 - 13 2499 c.1577G>T c.(1576-1578)gGc>gTc p.G526V RASGRP2_ENST00000377497.3_Missense_Mutation_p.G526V|RASGRP2_ENST00000394432.3_Missense_Mutation_p.G526V|RASGRP2_ENST00000354024.3_Missense_Mutation_p.G526V Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 526 platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCATTTGAGGCCCTGCTTGTA 0.502000 28 39 3.73148e-12 4.15099e-12 1 1 0 KALRN 8997 broad.mit.edu 37 3 124103731 124103731 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr3:124103731G>C ENST00000360013.3 + 11 1931 c.1804G>C c.(1804-1806)Gag>Cag p.E602Q KALRN_ENST00000460856.1_Missense_Mutation_p.E602Q|KALRN_ENST00000240874.3_Missense_Mutation_p.E602Q NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 602 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGAAGCAGCAGAGCAGTTGGC 0.582000 27 58 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37660565 37660565 + Silent SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chrX:37660565G>C ENST00000378588.4 + 8 928 c.861G>C c.(859-861)cgG>cgC p.R287R CYBB_ENST00000492288.1_3'UTR|CYBB_ENST00000545017.1_Silent_p.R255R|CYBB_ENST00000536160.1_Silent_p.R20R|TM4SF2_ENST00000465127.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 287 FAD-binding FR-type. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 GGTTGGTGCGGTTTTGGCGAT 0.408000 5 96 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46722368 46722368 + Missense_Mutation SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr22:46722368C>G ENST00000454366.1 + 9 1753 c.1541C>G c.(1540-1542)tCt>tGt p.S514C NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 495 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) AGACGCTCATCTGGGCCAGCA 0.572000 24 40 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2140462 2140462 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr16:2140462G>A ENST00000262304.4 - 45 12476 c.12268C>T c.(12268-12270)Ctc>Ttc p.L4090F PKD1_ENST00000423118.1_Missense_Mutation_p.L4089F NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 4090 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGTGCCCAGAGCCCCACACAC 0.692000 5 17 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43173746 43173746 + Splice_Site SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:43173746C>T ENST00000252050.4 + 25 4879 c.4793_splice c.e25-1 p.H1599_splice CUL9_ENST00000372647.2_Splice_Site_p.H1599_splice|CUL9_ENST00000354495.3_Splice_Site_p.H1489_splice NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1599 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GTGCTGCAGGCATTATATGGC 0.627000 15 82 0 0 1 0 0 SREBF1 6720 broad.mit.edu 37 17 17722357 17722357 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr17:17722357G>A ENST00000355815.4 - 6 1297 c.1128C>T c.(1126-1128)ctC>ctT p.L376L SREBF1_ENST00000395757.1_Silent_p.L92L|SREBF1_ENST00000435530.2_Silent_p.L346L|SREBF1_ENST00000261646.5_Silent_p.L346L|SREBF1_ENST00000338854.5_Silent_p.L346L NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 346 Interaction with LMNA (By similarity).|Leucine-zipper. cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 CCAGATCCTTGAGCTCAATGA 0.602000 16 38 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100836120 100836120 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr8:100836120G>C ENST00000358544.2 + 51 9430 c.9319G>C c.(9319-9321)Gac>Cac p.D3107H VPS13B_ENST00000357162.2_Missense_Mutation_p.D3082H|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3107 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCAGATTGAAGACAAGACTAC 0.318000 5 190 0 0 1 0 0 ZNF333 84449 broad.mit.edu 37 19 14829049 14829049 + Nonsense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr19:14829049C>T ENST00000292530.6 + 12 1001 c.910C>T c.(910-912)Cag>Tag p.Q304* ZNF333_ENST00000536363.1_Nonsense_Mutation_p.Q195*|ZNF333_ENST00000540689.2_Intron NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 GGAGCAACCTCAGCCTGGAGA 0.383000 15 31 0 0 1 0 0 OMA1 115209 broad.mit.edu 37 1 59002191 59002191 + Silent SNP A A G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:59002191A>G ENST00000371226.3 - 3 836 c.723T>C c.(721-723)taT>taC p.Y241Y OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Silent_p.Y241Y NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 241 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TTACTGCTTCATATTCCAGTT 0.318000 12 12 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46761204 46761204 + Splice_Site SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:46761204G>T ENST00000230588.4 + 1 78 c.69_splice c.e1+1 p.P23_splice NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 23 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CAGCTGTACCGGTAAGTCGAG 0.353000 18 202 8.10497e-08 8.56031e-08 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48550759 48550759 + Missense_Mutation SNP A A T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:48550759A>T ENST00000435803.1 + 51 13628 c.13604A>T c.(13603-13605)aAc>aTc p.N4535I ABCA13_ENST00000544596.1_Missense_Mutation_p.N265I NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4535 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTCCGCAAGAACTTGGCAGCC 0.453000 6 36 0 0 1 0 0 CDKL4 344387 broad.mit.edu 37 2 39406359 39406359 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:39406359C>T ENST00000378803.1 - 8 895 c.896G>A c.(895-897)cGt>cAt p.R299H CDKL4_ENST00000395035.3_Missense_Mutation_p.R299H NM_001009565.1 NP_001009565.1 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 299 cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) TCCTTCATTACGTGCTTTTCT 0.378000 41 94 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102891533 102891533 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr14:102891533G>A ENST00000359520.7 + 6 1082 c.856G>A c.(856-858)Gag>Aag p.E286K TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.E286K NM_014844.3 NP_055659.2 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 286 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 CAGCTTACCTGAGAGGCACCT 0.483000 38 90 0 0 1 0 0 ZFP2 80108 broad.mit.edu 37 5 178359312 178359312 + Missense_Mutation SNP A A C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:178359312A>C ENST00000361362.2 + 5 1528 c.998A>C c.(997-999)aAa>aCa p.K333T ZFP2_ENST00000503510.2_Missense_Mutation_p.K333T|ZFP2_ENST00000523286.1_Missense_Mutation_p.K333T|ZFP2_ENST00000520301.1_Missense_Mutation_p.K333T NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GAGTGTGGAAAAGCTTTCAGT 0.378000 31 50 0 0 1 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281765 49281765 + Missense_Mutation SNP T T C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr13:49281765T>C ENST00000282018.3 + 1 815 c.812T>C c.(811-813)tTg>tCg p.L271S NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 271 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) ACCGTCCACTTGACGACATGG 0.498000 26 44 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 224009053 224009053 + Missense_Mutation SNP T T C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:224009053T>C ENST00000343537.7 - 2 335 c.44A>G c.(43-45)tAt>tGt p.Y15C TP53BP2_ENST00000391878.2_5'UTR NM_001031685.2 NP_001026855.2 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 9 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GTTACTGAGATACACGGTAAG 0.408000 60 181 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168368 69168368 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr3:69168368G>A ENST00000420581.2 - 2 1317 c.1138C>T c.(1138-1140)Ccg>Tcg p.P380S LMOD3_ENST00000489031.1_Missense_Mutation_p.P380S|LMOD3_ENST00000475434.1_Missense_Mutation_p.P380S NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 380 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CTGGGACCCGGAAGCTCAAAA 0.473000 46 16 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890130 55890130 + Silent SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:55890130C>T ENST00000313472.3 + 1 282 c.282C>T c.(280-282)ttC>ttT p.F94F NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ATATTTCCTTCACGGGCTGCT 0.428000 43 261 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127609536 127609536 + Silent SNP A A G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:127609536A>G ENST00000508053.1 - 67 8810 c.7836T>C c.(7834-7836)tgT>tgC p.C2612C FBN2_ENST00000262464.4_Silent_p.C2612C P35556 FBN2_HUMAN fibrillin 2 2612 EGF-like 44; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACTAACCTTCACAGTTCAGTC 0.368000 4 46 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63995647 63995647 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:63995647C>T ENST00000370658.5 - 3 208 c.175G>A c.(175-177)Gac>Aac p.D59N LGSN_ENST00000370657.4_Missense_Mutation_p.D59N NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 59 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TGACTGCTGTCCCTCATGCAA 0.403000 11 34 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197171917 197171917 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:197171917C>T ENST00000260983.2 - 12 2808 c.2626G>A c.(2626-2628)Gag>Aag p.E876K HECW2_ENST00000409111.1_Missense_Mutation_p.E520K NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 876 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GTATTTTCCTCAGGCCTCTCA 0.438000 60 18 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118624083 118624083 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:118624083G>C ENST00000336338.5 - 14 2010 c.1945C>G c.(1945-1947)Caa>Gaa p.Q649E NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 649 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ATGACATATTGCTGCCTTATC 0.418000 27 88 0 0 1 0 0 ZNF790 388536 broad.mit.edu 37 19 37309378 37309378 + Missense_Mutation SNP T T A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr19:37309378T>A ENST00000356725.4 - 5 1988 c.1868A>T c.(1867-1869)gAg>gTg p.E623V CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 623 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AAATGCTTTCTCAAAATCTTT 0.323000 26 29 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138607857 138607857 + Silent SNP T T C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:138607857T>C ENST00000251691.4 + 16 2755 c.2589T>C c.(2587-2589)taT>taC p.Y863Y NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 863 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TTGCTCGCTATATTCTGGTGG 0.493000 61 26 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7413079 7413079 + Missense_Mutation SNP A A G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:7413079A>G ENST00000399429.3 - 32 2598 c.2458T>C c.(2458-2460)Ttt>Ctt p.F820L NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 820 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GTCTTCACAAAATTTTTAATG 0.483000 52 83 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043145 71043145 + Silent SNP T T C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:71043145T>C ENST00000272367.2 - 4 1444 c.1368A>G c.(1366-1368)gaA>gaG p.E456E CLEC4F_ENST00000426626.1_Silent_p.E456E NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 456 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TTTGTAGCTGTTCCTGTGAAG 0.507000 35 44 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48713402 48713402 + Silent SNP A A T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr8:48713402A>T ENST00000314191.2 - 72 10121 c.10065T>A c.(10063-10065)gcT>gcA p.A3355A PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.A3355A NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3356 FAT. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGATTCTTCTAGCCTTGTCCT 0.463000 Non-homologous end-joining 11 13 0 0 1 0 0 STOML2 30968 broad.mit.edu 37 9 35103079 35103079 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr9:35103079C>T ENST00000356493.5 - 1 75 c.13G>A c.(13-15)Gcg>Acg p.A5T STOML2_ENST00000452248.2_Missense_Mutation_p.A5T NM_013442.1 NP_038470.1 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 5 cytoskeleton receptor binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 16 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCCCGCGCCGCGCGCGCCAGC 0.642000 26 97 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52091225 52091225 + Missense_Mutation SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr19:52091225C>A ENST00000262259.2 + 5 1999 c.1641C>A c.(1639-1641)agC>agA p.S547R ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 547 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CAATACTCAGCATGCATCAGA 0.423000 19 22 1.15919e-05 1.18439e-05 1 1 0 RYR2 6262 broad.mit.edu 37 1 237780681 237780681 + Silent SNP A A G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:237780681A>G ENST00000366574.2 + 38 6128 c.5811A>G c.(5809-5811)caA>caG p.Q1937Q RYR2_ENST00000542537.1_Silent_p.Q1921Q|RYR2_ENST00000360064.6_Silent_p.Q1935Q NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1937 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTAAGCTCCAAGACAATCAAC 0.473000 13 40 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751223 140751223 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:140751223C>T ENST00000576222.1 + 1 1393 c.1262C>T c.(1261-1263)aCg>aTg p.T421M PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACAATGTGACGATCACAGCT 0.498000 8 103 0 0 1 0 0 POT1 25913 broad.mit.edu 37 7 124503531 124503531 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:124503531G>A ENST00000357628.3 - 8 1017 c.419C>T c.(418-420)gCa>gTa p.A140V POT1_ENST00000393329.1_Missense_Mutation_p.A9V NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 140 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 ATGAGTAGATGCCCAAACACG 0.438000 39 52 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104470653 104470653 + Missense_Mutation SNP A A G rs148458755 TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr14:104470653A>G ENST00000409874.4 + 14 1610 c.1562A>G c.(1561-1563)cAt>cGt p.H521R TDRD9_ENST00000339063.5_Missense_Mutation_p.H521R NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 521 Helicase C-terminal. cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) ATCCCTGATCATGTTGTTCCT 0.393000 4 51 0 0 1 0 0 APPL2 55198 broad.mit.edu 37 12 105601790 105601790 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr12:105601790C>T ENST00000258530.3 - 7 658 c.433G>A c.(433-435)Gca>Aca p.A145T APPL2_ENST00000539978.2_Missense_Mutation_p.A102T|APPL2_ENST00000551662.1_Missense_Mutation_p.A151T|APPL2_ENST00000549573.1_5'UTR NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 145 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CTGTATTTTGCCATTGAGAGG 0.438000 4 123 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240939500 240939500 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:240939500G>T ENST00000366565.1 - 18 1808 c.1427C>A c.(1426-1428)aCg>aAg p.T476K RGS7_ENST00000366563.1_3'UTR|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000331110.7_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.T458K|RGS7_ENST00000366564.1_Missense_Mutation_p.T458K|RGS7_ENST00000348120.2_3'UTR NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 0 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CCTCTTGGACGTGAGAGATTT 0.383000 18 63 1.00905e-13 1.14278e-13 1 1 0 RELN 5649 broad.mit.edu 37 7 103180650 103180650 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:103180650G>A ENST00000424685.2 - 44 7083 c.6924C>T c.(6922-6924)atC>atT p.I2308I RELN_ENST00000343529.5_Silent_p.I2308I|RELN_ENST00000428762.1_Silent_p.I2308I P78509 RELN_HUMAN reelin 2308 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGACCTGATCGATAACCCAGG 0.488000 5 58 0 0 1 0 0 ZBTB6 10773 broad.mit.edu 37 9 125673511 125673511 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr9:125673511C>T ENST00000373659.3 - 2 929 c.841G>A c.(841-843)Gaa>Aaa p.E281K NM_006626.5 NP_006617.1 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 11 TAACTTCCTTCAGTATTCTCA 0.443000 8 42 0 0 1 0 0 DCTN1 1639 broad.mit.edu 37 2 74595945 74595945 + Silent SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:74595945C>T ENST00000361874.3 - 16 2081 c.1764G>A c.(1762-1764)ctG>ctA p.L588L DCTN1_ENST00000409438.1_Silent_p.L454L|DCTN1_ENST00000409868.1_Silent_p.L571L|DCTN1_ENST00000407639.2_Silent_p.L454L|DCTN1_ENST00000409240.1_Silent_p.L551L|DCTN1_ENST00000394003.3_Silent_p.L581L|DCTN1_ENST00000409567.3_Silent_p.L568L NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 588 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TGAAGGCTGTCAGCAGGGACA 0.562000 23 98 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126086293 126086293 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:126086293C>T ENST00000339582.2 - 10 3372 c.2564G>A c.(2563-2565)aGc>aAc p.S855N GRM8_ENST00000358373.3_Missense_Mutation_p.S855N|GRM8_ENST00000444921.2_Missense_Mutation_p.S855N O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 855 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGCCTTGAAGCTCCTCTTGCG 0.418000 HNSCC(24;0.065) 4 89 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505522 159505522 + Silent SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:159505522G>T ENST00000334857.2 - 1 320 c.276C>A c.(274-276)atC>atA p.I92I NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) CTGCCAAGGAGATAGGTTGGT 0.443000 29 107 5.45727e-16 6.37246e-16 1 1 0 SLC4A8 9498 broad.mit.edu 37 12 51863567 51863567 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr12:51863567C>T ENST00000453097.2 + 12 1736 c.1519C>T c.(1519-1521)Cgc>Tgc p.R507C SLC4A8_ENST00000394856.1_Missense_Mutation_p.R454C|SLC4A8_ENST00000535225.2_Missense_Mutation_p.R454C|SLC4A8_ENST00000514353.3_Missense_Mutation_p.R454C|SLC4A8_ENST00000358657.3_Missense_Mutation_p.R534C|SLC4A8_ENST00000546663.1_3'UTR NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 507 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity p.R454C(1)|p.R507C(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) CACTGAGGGACGCATAGTAAG 0.488000 43 52 0 0 1 0 0 KCNA2 3737 broad.mit.edu 37 1 111147389 111147389 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:111147389C>T ENST00000485317.1 - 3 689 c.16G>A c.(16-18)Gga>Aga p.G6R KCNA2_ENST00000316361.4_Missense_Mutation_p.G6R|KCNA2_ENST00000369770.3_Missense_Mutation_p.G6R|KCNA2_ENST00000440270.1_Missense_Mutation_p.G6R|KCNA2_ENST00000525120.1_Intron P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 2 6 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) GCTGGGTCTCCGGTGGCCACT 0.612000 19 130 0 0 1 0 0 PPP1R17 10842 broad.mit.edu 37 7 31746831 31746831 + Silent SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:31746831C>G ENST00000342032.3 + 5 1030 c.402C>G c.(400-402)ctC>ctG p.L134L PPP1R17_ENST00000409146.3_Silent_p.L83L|PPP1R17_ENST00000498609.1_3'UTR NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 134 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction TGACATTGCTCAGGGACGAGA 0.423000 15 22 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33165642 33165642 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:33165642G>A ENST00000374680.3 - 4 928 c.717C>T c.(715-717)taC>taT p.Y239Y RXRB_ENST00000374685.4_Silent_p.Y239Y|RXRB_ENST00000413614.2_Silent_p.Y143Y|RXRB_ENST00000544186.1_Silent_p.Y49Y NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 239 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CCCGGCAAGAGTATGTAAGGT 0.552000 15 48 0 0 1 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33052779 33052779 + Missense_Mutation SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:33052779C>A ENST00000418931.2 + 3 533 c.417C>A c.(415-417)caC>caA p.H139Q NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 139 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 TGCAGCACCACAACCTGCTTG 0.512000 14 80 3.52763e-06 3.62402e-06 1 1 0 TNFRSF1A 7132 broad.mit.edu 37 12 6443336 6443336 + Silent SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr12:6443336C>T ENST00000162749.2 - 2 413 c.114G>A c.(112-114)gaG>gaA p.E38E TNFRSF1A_ENST00000366159.4_Silent_p.E38E|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Silent_p.E38E NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 38 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 TATCTCTCTTCTCCCTGTCCC 0.502000 55 58 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62490338 62490338 + Missense_Mutation SNP T T C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:62490338T>C ENST00000301785.5 - 5 1121 c.929A>G c.(928-930)gAg>gGg p.E310G RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E310G NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 310 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GAGAGAGACCTCTGTGCAGCC 0.428000 19 29 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 210905062 210905062 + Missense_Mutation SNP T T G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:210905062T>G ENST00000452086.1 - 8 2318 c.2111A>C c.(2110-2112)aAa>aCa p.K704T KANSL1L_ENST00000418791.1_Intron|KANSL1L_ENST00000457374.1_Missense_Mutation_p.K704T|KANSL1L_ENST00000281772.9_Intron|AC007038.7_ENST00000452057.1_RNA A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 0 ttctTAGATTTTATTTTTCTT 0.264000 9 7 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12870861 12870861 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr10:12870861C>T ENST00000378847.3 + 11 1470 c.1133C>T c.(1132-1134)aCg>aTg p.T378M NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 378 calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.T378M(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) ACCACTGTGACGGCAGTGCAC 0.667000 18 9 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562743 140562743 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:140562743G>T ENST00000361016.2 + 1 1764 c.609G>T c.(607-609)gaG>gaT p.E203D NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 203 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGATCGGGAGGAGGAGCCTC 0.498000 19 41 1.33834e-09 1.43776e-09 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139412381 139412381 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr9:139412381G>T ENST00000277541.6 - 8 1339 c.1264C>A c.(1264-1266)Ccc>Acc p.P422T NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 422 EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.P422S(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGCTCGCAGGGGTTGGCACCT 0.667000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 19 10 6.33239e-15 7.30361e-15 1 1 0 ASH1L 55870 broad.mit.edu 37 1 155447732 155447732 + Silent SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:155447732C>A ENST00000368346.3 - 3 5568 c.4929G>T c.(4927-4929)cgG>cgT p.R1643R ASH1L_ENST00000392403.3_Silent_p.R1643R Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1643 Ser-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTCTGTGAAGCCGATTTAGTG 0.443000 81 71 5.29152e-50 6.41811e-50 1 1 0 ASPSCR1 79058 broad.mit.edu 37 17 79954550 79954550 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr17:79954550G>T ENST00000306729.7 + 7 858 c.761G>T c.(760-762)gGc>gTc p.G254V ASPSCR1_ENST00000580534.1_Missense_Mutation_p.G177V|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.G254V NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 254 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AGACTGGGGGGCCCTCCTGGG 0.632000 T TFE3 alveolar soft part sarcoma 52 18 1.46357e-32 1.76379e-32 1 1 0 FRMPD1 22844 broad.mit.edu 37 9 37740302 37740302 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr9:37740302G>A ENST00000539465.1 + 15 2370 c.1777G>A c.(1777-1779)Gcc>Acc p.A593T FRMPD1_ENST00000377765.3_Missense_Mutation_p.A593T|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.A462T|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A415T Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 593 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GTCCGACTCAGCCAACACTGA 0.647000 22 123 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57111704 57111704 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr16:57111704G>A ENST00000262510.6 + 42 5218 c.4993G>A c.(4993-4995)Gag>Aag p.E1665K NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.E1636K|NLRC5_ENST00000308149.7_Missense_Mutation_p.E1636K NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1665 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CAGGCGCCTGGAGGAGTTGAT 0.667000 24 14 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10434205 10434205 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr19:10434205G>A ENST00000293677.6 - 4 926 c.845C>T c.(844-846)gCg>gTg p.A282V NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 265 RRM 3. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CTCCAGCACCGCGAAGCCCTT 0.682000 21 30 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11454266 11454266 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:11454266G>A ENST00000227756.4 - 3 908 c.497C>T c.(496-498)gCg>gTg p.A166V NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 CACTGAAAGCGCTTCATTGAC 0.537000 19 7 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 3 27 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2113555 2113555 + Missense_Mutation SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr12:2113555C>G ENST00000280665.6 - 1 122 c.43G>C c.(43-45)Gac>Cac p.D15H DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 15 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) AGGCTGATGTCGCGCCCCTTT 0.652000 16 29 0 0 1 0 0 PTGIR 5739 broad.mit.edu 37 19 47127071 47127071 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr19:47127071G>T ENST00000291294.2 - 2 545 c.412C>A c.(412-414)Ctg>Atg p.L138M PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.L138M|PTGIR_ENST00000594275.1_Intron NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 138 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) GGCAGCGCCAGGCGGGCGCAG 0.701000 11 11 3.07112e-06 3.18989e-06 1 1 0 MUC2 4583 broad.mit.edu 37 11 1093367 1093367 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:1093367C>T ENST00000441003.2 + 30 5213 c.5186C>T c.(5185-5187)aCg>aTg p.T1729M MUC2_ENST00000359061.5_Missense_Mutation_p.T1696M|MUC2_ENST00000333592.6_Missense_Mutation_p.T17M|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1720 Approximate repeats. inner mucus layer|outer mucus layer protein binding p.T1696M(1)|p.T1729M(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) accaccactacggtgacccca 0.647000 2 0 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3426096 3426096 + RNA SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:3426096C>T ENST00000529482.1 + 0 845 AAAGGGCCTCCGAGGGAGTAT 0.602000 3 46 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942440 6942440 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:6942440C>T ENST00000317834.3 + 1 236 c.208C>T c.(208-210)Cgc>Tgc p.R70C NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCTGGATTCTCGCCTTCACAC 0.428000 31 21 0 0 1 0 0 C3orf58 205428 broad.mit.edu 37 3 143708593 143708593 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr3:143708593G>A ENST00000315691.3 + 3 1738 c.1203G>A c.(1201-1203)gaG>gaA p.E401E C3orf58_ENST00000441925.2_Silent_p.E163E|C3orf58_ENST00000495414.1_Silent_p.E192E|C3orf58_ENST00000493396.1_Intron NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 401 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGCTGGATGAGTGTGCCAACC 0.507000 16 61 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193128809 193128809 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr3:193128809G>C ENST00000342695.4 - 28 3581 c.3259C>G c.(3259-3261)Cta>Gta p.L1087V ATP13A4_ENST00000392443.3_Missense_Mutation_p.L1068V|ATP13A4_ENST00000400270.2_Missense_Mutation_p.L103V|ATP13A4_ENST00000482964.1_5'UTR NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1087 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TCAGCAAATAGAATGAATAGA 0.299000 24 164 0 0 1 0 0 HIF1A 3091 broad.mit.edu 37 14 62199180 62199180 + Missense_Mutation SNP G G A rs61755644 TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr14:62199180G>A ENST00000394997.1 + 7 1086 c.821G>A c.(820-822)cGc>cAc p.R274H HIF1A_ENST00000337138.4_Missense_Mutation_p.R273H|HIF1A_ENST00000557538.1_Missense_Mutation_p.R214H|HIF1A_ENST00000323441.6_Missense_Mutation_p.R273H|HIF1A_ENST00000539097.1_Missense_Mutation_p.R297H|HIF1A-AS2_ENST00000554254.1_lincRNA Q16665 HIF1A_HUMAN hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 273 Interaction with TSGA10 (By similarity).|PAS 2. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) CTTTTAGGCCGCTCAATTTAT 0.323000 5 273 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50223340 50223340 + Missense_Mutation SNP T T G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr3:50223340T>G ENST00000002829.3 + 16 2090 c.1606T>G c.(1606-1608)Tca>Gca p.S536A SEMA3F_ENST00000413852.1_Missense_Mutation_p.S437A|SEMA3F_ENST00000434342.1_Missense_Mutation_p.S505A NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 536 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CTACGTGGCGTCAGCCGTGGG 0.647000 58 20 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51255250 51255250 + Missense_Mutation SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:51255250C>G ENST00000404971.1 - 2 1501 c.162G>C c.(160-162)atG>atC p.M54I NRXN1_ENST00000405472.3_Missense_Mutation_p.M54I|NRXN1_ENST00000405581.1_Missense_Mutation_p.M54I|NRXN1_ENST00000406316.2_Missense_Mutation_p.M54I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M54I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M54I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M54I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 54 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCTGGAAGCTCATCTCGCTCT 0.682000 3 15 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31289198 31289198 + Silent SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr22:31289198C>T ENST00000332585.6 + 9 2063 c.1959C>T c.(1957-1959)ttC>ttT p.F653F OSBP2_ENST00000446658.2_Silent_p.F652F|OSBP2_ENST00000401475.1_Silent_p.F286F|OSBP2_ENST00000407373.1_Silent_p.F480F|OSBP2_ENST00000535268.1_Silent_p.F197F|OSBP2_ENST00000437268.2_Silent_p.F395F|OSBP2_ENST00000403222.3_Silent_p.F487F|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Silent_p.F604F NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 653 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CCAGCAAGTTCCGGGGAAAAT 0.582000 10 42 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13864598 13864598 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:13864598G>A ENST00000265104.4 - 28 4608 c.4504C>T c.(4504-4506)Ctc>Ttc p.L1502F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1502 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGCCCGGTGAGGGTGGTTATC 0.463000 Kartagener syndrome 13 59 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84683407 84683407 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr15:84683407G>A ENST00000286744.5 + 24 4311 c.4087G>A c.(4087-4089)Gga>Aga p.G1363R ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1363R NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1363 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGAAAATGAAGGAACCTACGT 0.428000 30 37 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170626766 170626766 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:170626766G>C ENST00000523189.1 + 19 2295 c.2131G>C c.(2131-2133)Gaa>Caa p.E711Q RANBP17_ENST00000521759.1_3'UTR NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 711 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity p.E711*(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTTAAACAAGAAGATGTAAA 0.343000 T TRD@ ALL 12 86 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205801816 205801816 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:205801816C>T ENST00000367136.4 - 11 1239 c.1195G>A c.(1195-1197)Gtc>Atc p.V399I PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 399 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GAAGGGCTGACGGGGAGGGGG 0.537000 25 63 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48887896 48887896 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chrX:48887896G>C ENST00000315869.7 - 10 1760 c.1501C>G c.(1501-1503)Ctg>Gtg p.L501V TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 501 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 TGCAGGTCCAGAAGGGCATCT 0.672000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 15 35 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140266930 140266930 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:140266930C>T ENST00000275884.6 - 8 2152 c.1735G>A c.(1735-1737)Ggg>Agg p.G579R DENND2A_ENST00000537639.1_Missense_Mutation_p.G579R|DENND2A_ENST00000492720.1_Missense_Mutation_p.G579R|DENND2A_ENST00000496613.1_Missense_Mutation_p.G579R Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 579 UDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TAGGCAGCCCCGGCCTGCTTC 0.582000 7 12 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182360528 182360528 + Missense_Mutation SNP T T G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:182360528T>G ENST00000397033.2 + 14 1834 c.1404T>G c.(1402-1404)atT>atG p.I468M NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 468 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CTGTAGTAATTGTTGACGCTT 0.353000 17 90 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112221026 112221026 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr12:112221026G>A ENST00000261733.2 + 3 345 c.284G>A c.(283-285)cGc>cAc p.R95H ALDH2_ENST00000416293.3_Intron|RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 95 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) CCTTGGCGCCGCATGGACGCA 0.637000 T HMGA2 leiomyoma 5 151 0 0 1 0 0 HIST1H1D 3007 broad.mit.edu 37 6 26235027 26235027 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:26235027G>A ENST00000244534.5 - 1 189 c.135C>T c.(133-135)atC>atT p.I45I NM_005320.2 NP_005311.1 P16402 H13_HUMAN histone cluster 1, H1d 45 H15. nucleosome assembly nucleosome|nucleus DNA binding breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) CTGCCTTGGTGATAAGCTCAG 0.542000 73 157 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131761636 131761636 + Nonsense_Mutation SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr10:131761636C>A ENST00000368648.3 - 2 358 c.286G>T c.(286-288)Gag>Tag p.E96* EBF3_ENST00000355311.5_Nonsense_Mutation_p.E96* NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 96 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CTTACTTTCTCTTTCTCCACA 0.582000 22 49 9.57634e-11 1.04672e-10 1 1 0 TNFAIP6 7130 broad.mit.edu 37 2 152236028 152236028 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:152236028G>T ENST00000243347.3 + 6 890 c.815G>T c.(814-816)gGa>gTa p.G272V NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 272 cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) TTTTTAGCTGGAAGATTTAGC 0.308000 9 73 0.00448238 0.00453058 1 1 0 ZNF704 619279 broad.mit.edu 37 8 81555345 81555345 + Missense_Mutation SNP G G A rs139476385 byFrequency TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr8:81555345G>A ENST00000327835.3 - 8 1283 c.1052C>T c.(1051-1053)cCg>cTg p.P351L NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 351 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TGTGCCCACCGGATGATGTGT 0.527000 4 23 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111474739 111474739 + Nonsense_Mutation SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:111474739C>A ENST00000428084.1 - 26 3012 c.2740G>T c.(2740-2742)Gag>Tag p.E914* DOCK4_ENST00000437633.1_Nonsense_Mutation_p.E914* Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 914 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GCAACAAACTCCCCCTAAGTT 0.333000 3 1 0.184627 0.184627 1 1 0 GP2 2813 broad.mit.edu 37 16 20337725 20337725 + Missense_Mutation SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr16:20337725C>A ENST00000302555.5 - 2 178 c.29G>T c.(28-30)gGc>gTc p.G10V GP2_ENST00000341642.5_Missense_Mutation_p.G10V|GP2_ENST00000381360.5_Missense_Mutation_p.G10V|GP2_ENST00000381362.4_Missense_Mutation_p.G10V P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 10 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GAGGCCAGAGCCCACCATCCT 0.522000 9 55 2.74318e-10 2.98103e-10 1 1 0 OR5F1 338674 broad.mit.edu 37 11 55761712 55761712 + Silent SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:55761712C>A ENST00000278409.1 - 1 389 c.390G>T c.(388-390)ctG>ctT p.L130L NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) AGGAGTAAAGCAGCGGGCGAC 0.507000 24 51 5.35356e-11 5.88578e-11 1 1 0 PHC2 1912 broad.mit.edu 37 1 33836668 33836668 + Missense_Mutation SNP T T C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:33836668T>C ENST00000257118.5 - 3 414 c.361A>G c.(361-363)Agc>Ggc p.S121G PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.S121G|PHC2_ENST00000419414.2_Missense_Mutation_p.S121G NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 121 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCTGAAGTGCTTCCTTGTCTA 0.562000 45 83 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53908088 53908088 + Missense_Mutation SNP A A C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr15:53908088A>C ENST00000396328.1 - 15 2554 c.2315T>G c.(2314-2316)aTg>aGg p.M772R WDR72_ENST00000559418.1_Missense_Mutation_p.M782R|WDR72_ENST00000557913.1_Missense_Mutation_p.M769R|WDR72_ENST00000360509.5_Missense_Mutation_p.M772R NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 772 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GGAGATCTTCATTTTCTTCTG 0.413000 50 70 0 0 1 0 0 NR2F1 7025 broad.mit.edu 37 5 92929485 92929485 + Silent SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:92929485C>A ENST00000327111.3 + 3 2896 c.1209C>A c.(1207-1209)atC>atA p.I403I NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 403 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) AAACTCTCATCCGCGATATGT 0.587000 55 37 1.27334e-21 1.51511e-21 1 1 0 PAQR7 164091 broad.mit.edu 37 1 26189512 26189512 + Silent SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:26189512C>T ENST00000374296.3 - 2 1485 c.819G>A c.(817-819)caG>caA p.Q273Q RP1-125I3.2_ENST00000455431.1_RNA NM_178422.5 NP_848509.1 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 273 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) GTTGGTGGCCCTGCCCGAAGA 0.597000 17 37 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28734098 28734098 + RNA SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr14:28734098C>G ENST00000550043.1 + 0 503 TGAAGAAAAACTCAGATTGGA 0.463000 103 80 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141800 114141800 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chrX:114141800G>C ENST00000276198.1 + 6 1927 c.1199G>C c.(1198-1200)aGa>aCa p.R400T HTR2C_ENST00000371951.1_Missense_Mutation_p.R400T|HTR2C_ENST00000371950.3_3'UTR NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 400 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CAGATTCCAAGAGTTGCCGCC 0.453000 26 52 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45234324 45234324 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr17:45234324C>T ENST00000066544.3 - 7 890 c.797G>A c.(796-798)cGa>cAa p.R266Q CDC27_ENST00000446365.2_Missense_Mutation_p.R205Q|CDC27_ENST00000531206.1_Missense_Mutation_p.R266Q|CDC27_ENST00000527547.1_Missense_Mutation_p.R266Q NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 266 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TAATAAACTTCGACCAGTTTT 0.358000 3 51 0 0 1 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2690 2690 + RNA SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chrM:2690G>A ENST00000387347.2 + 0 1020 NR_039705.1 attgacctgcccgtgaagagg 0.443000 43 4 0 0 1 0 0 RARS2 57038 broad.mit.edu 37 6 88229385 88229385 + Missense_Mutation SNP T T A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:88229385T>A ENST00000369536.5 - 14 1198 c.1153A>T c.(1153-1155)Act>Tct p.T385S NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 385 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) CCTCTTCGAGTCTTCATTCCC 0.403000 6 101 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120702750 120702750 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:120702750G>A ENST00000263708.2 + 16 2220 c.1449G>A c.(1447-1449)tcG>tcA p.S483S PTPN4_ENST00000544261.1_Silent_p.S116S NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 483 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) ATTCACATTCGCAACAAGATC 0.368000 22 49 0 0 1 0 0 MFSD1 64747 broad.mit.edu 37 3 158539845 158539845 + Silent SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr3:158539845C>T ENST00000415822.2 + 11 1281 c.1140C>T c.(1138-1140)atC>atT p.I380I MFSD1_ENST00000392813.4_Silent_p.I341I|MFSD1_ENST00000264266.8_Silent_p.I331I NM_022736.2 NP_073573.2 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 1 331 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 26 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) GGAAGAACATCATCTGGGTTC 0.483000 23 61 0 0 1 0 0 BAG3 9531 broad.mit.edu 37 10 121429550 121429550 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr10:121429550G>A ENST00000369085.3 + 2 674 c.368G>A c.(367-369)cGa>cAa p.R123Q NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 123 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) CAGCGATTCCGAACTGAGGCG 0.607000 10 80 0 0 1 0 0 MED25 81857 broad.mit.edu 37 19 50339143 50339143 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr19:50339143C>T ENST00000312865.6 + 16 1959 c.1906C>T c.(1906-1908)Cgg>Tgg p.R636W MED25_ENST00000538643.1_Missense_Mutation_p.R423W NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 636 Interaction with RARA.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) ACCCATCCTTCGGCCCCAGAA 0.687000 8 32 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66322664 66322664 + RNA SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:66322664C>T ENST00000513398.1 + 0 718 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 TCATCGACTACGCCAAACTGC 0.627000 15 36 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105160838 105160838 + Silent SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr8:105160838C>G ENST00000436393.2 + 23 3391 c.3150C>G c.(3148-3150)gtC>gtG p.V1050V RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 485 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTGACAGTGTCTTTACATCCA 0.368000 HNSCC(12;0.0054) 25 2 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42393503 42393503 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr13:42393503G>A ENST00000379310.3 - 15 1788 c.1720C>T c.(1720-1722)Ccc>Tcc p.P574S VWA8_ENST00000281496.6_Missense_Mutation_p.P574S NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CTGAAGGAGGGATGGATAGGA 0.373000 23 24 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35389701 35389701 + Missense_Mutation SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:35389701C>G ENST00000311565.4 + 6 739 c.390C>G c.(388-390)ttC>ttG p.F130L PPARD_ENST00000360694.3_Missense_Mutation_p.F130L|PPARD_ENST00000448077.2_Missense_Mutation_p.F91L|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000444397.1_Missense_Mutation_p.F130L|PPARD_ENST00000540939.1_Missense_Mutation_p.F27L|PPARD_ENST00000337400.2_Missense_Mutation_p.F130L NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 130 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) ACTGCCGCTTCCAGAAGTGCC 0.572000 8 47 0 0 1 0 0 BEX5 340542 broad.mit.edu 37 X 101408955 101408955 + Missense_Mutation SNP T T A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chrX:101408955T>A ENST00000543160.1 - 3 584 c.283A>T c.(283-285)Ata>Tta p.I95L BEX5_ENST00000333643.3_Missense_Mutation_p.I95L NM_001159560.1 NP_001153032.1 Q5H9J7 BEX5_HUMAN brain expressed, X-linked 5 95 cytoplasm large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 GGGTCCCCTATAAGAATGCGC 0.418000 29 5 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582909 179582909 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:179582909G>T ENST00000589042.1 - 86 25048 c.24824C>A c.(24823-24825)gCa>gAa p.A8275E TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7031E|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7958E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7958 Ig-like 65. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCAATGACTGCTTCCACATG 0.408000 32 31 8.16721e-17 9.59647e-17 1 1 0 TP53 7157 broad.mit.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr17:7578271T>A ENST00000420246.2 - 6 710 c.578A>T c.(577-579)cAt>cTt p.H193L TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 193 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCGGATAAGATGCTGAGGAGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 15 0 0 1 0 0 CHMP2A 27243 broad.mit.edu 37 19 59063292 59063292 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr19:59063292G>T ENST00000600118.1 - 4 947 c.522C>A c.(520-522)agC>agA p.S174R CHMP2A_ENST00000601220.1_Missense_Mutation_p.S174R|CHMP2A_ENST00000312547.2_Missense_Mutation_p.S174R O43633 CHM2A_HUMAN charged multivesicular body protein 2A 174 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 7 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CATCTGTTAGGCTAAGTCCCA 0.562000 25 39 1.77063e-15 2.05481e-15 1 1 0 KRT34 3885 broad.mit.edu 37 17 39535858 39535858 + Missense_Mutation SNP A A C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr17:39535858A>C ENST00000394001.1 - 4 870 c.840T>G c.(838-840)atT>atG p.I280M NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 280 Coil 2.|Rod. I -> T (in dbSNP:rs2239710). epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CCCTGCGGTTAATTTCCACCA 0.607000 17 40 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35144299 35144299 + RNA SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:35144299G>A ENST00000436258.1 - 0 1767 CATGTGCAGCGTCAAAAACAT 0.358000 29 37 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96215743 96215743 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:96215743G>A ENST00000437043.3 + 2 1065 c.354G>A c.(352-354)acG>acA p.T118T CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Silent_p.T118T|ERAP2_ENST00000379904.4_Silent_p.T118T NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 118 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) TTGAAATCACGAATGCCACCC 0.428000 3 30 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151491044 151491044 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:151491044G>A ENST00000271636.7 + 2 182 c.49G>A c.(49-51)Gga>Aga p.G17R NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 11 Head. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CGTAGACCATGGAGTCCAGAT 0.552000 18 169 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129822360 129822360 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr12:129822360G>A ENST00000422113.2 - 4 1444 c.1118C>T c.(1117-1119)gCg>gTg p.A373V NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 373 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGCGCCATCCGCACTGGAGAG 0.592000 53 64 0 0 1 0 0 CLNS1A 1207 broad.mit.edu 37 11 77336807 77336807 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:77336807C>T ENST00000525428.1 - 3 409 c.319G>A c.(319-321)Gaa>Aaa p.E107K CLNS1A_ENST00000528364.1_Missense_Mutation_p.E107K|CLNS1A_ENST00000525064.1_Missense_Mutation_p.E107K|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000532069.1_Intron NM_001293.2 NP_001284.1 P54105 ICLN_HUMAN chloride channel, nucleotide-sensitive, 1A 107 blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly cytoskeleton|cytosol|nucleus|plasma membrane protein binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19) Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GTAATAGGTTCAACATCATCA 0.333000 6 77 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3248121 3248121 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr9:3248121G>A ENST00000382004.3 - 16 2190 c.1879C>T c.(1879-1881)Cgt>Tgt p.R627C RFX3_ENST00000358730.2_Missense_Mutation_p.R627C|RFX3_ENST00000302303.1_Missense_Mutation_p.R627C NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 627 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TAGAGTAGACGGATCAGGTGG 0.458000 10 24 0 0 1 0 0 TTLL1 25809 broad.mit.edu 37 22 43455461 43455461 + Missense_Mutation SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr22:43455461C>A ENST00000331018.7 - 8 1060 c.820G>T c.(820-822)Ggc>Tgc p.G274C TTLL1_ENST00000266254.7_Missense_Mutation_p.G274C O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 274 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) ACCTCCTTGCCGCGGGTGCTC 0.632000 7 32 2.0095e-06 2.09881e-06 1 1 0 PPME1 51400 broad.mit.edu 37 11 73950277 73950277 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:73950277G>C ENST00000328257.8 + 9 1133 c.810G>C c.(808-810)aaG>aaC p.K270N PPME1_ENST00000398427.4_Missense_Mutation_p.K270N|PPME1_ENST00000543525.1_Missense_Mutation_p.K83N|P4HA3_ENST00000540363.1_Intron Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 270 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(2) 5 Breast(11;3.29e-05) CTATAAGCAAGAGGAAAAAGG 0.418000 8 67 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49033843 49033843 + Silent SNP C C T rs121913299 TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr13:49033843C>T ENST00000267163.4 + 20 2118 c.1980C>T c.(1978-1980)ctC>ctT p.L660L NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 660 Domain B.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11)|p.L660fs*2(3) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAGCCTATCTCCGGCTAAATA 0.388000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 41 51 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12017907 12017907 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:12017907G>C ENST00000196061.4 + 8 777 c.750G>C c.(748-750)ttG>ttC p.L250F PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.L297F NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 250 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) AGCTGCAGTTGAACTACCTGG 0.627000 27 132 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100330084 100330084 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:100330084G>A ENST00000294724.4 + 5 1081 c.603G>A c.(601-603)gtG>gtA p.V201V AGL_ENST00000370163.3_Silent_p.V201V|AGL_ENST00000370161.2_Silent_p.V185V|AGL_ENST00000361522.4_Silent_p.V184V|AGL_ENST00000361915.3_Silent_p.V201V|AGL_ENST00000361302.3_Silent_p.V185V|AGL_ENST00000370165.3_Silent_p.V201V NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 201 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GACAGCTAGTGGAAAAATTAA 0.343000 20 45 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 3 28 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102048764 102048764 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr10:102048764G>T ENST00000318222.3 - 15 2682 c.2300C>A c.(2299-2301)cCa>cAa p.P767Q PKD2L1_ENST00000338519.3_Missense_Mutation_p.P692Q|PKD2L1_ENST00000353274.3_Intron NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 767 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) CCAGGGGTCTGGGGTCACAGC 0.572000 11 10 1.05317e-09 1.13791e-09 1 1 0 GTF2A1 2957 broad.mit.edu 37 14 81658906 81658906 + Missense_Mutation SNP T T A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr14:81658906T>A ENST00000553612.1 - 7 1293 c.890A>T c.(889-891)gAa>gTa p.E297V GTF2A1_ENST00000434192.2_Missense_Mutation_p.E258V NM_015859.3 NP_056943.1 P52655 TF2AA_HUMAN general transcription factor IIA, 1, 19/37kDa 297 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(234;0.0287) ctctttgtcttcctcctcatc 0.368000 43 147 0 0 1 0 0 IL17RC 84818 broad.mit.edu 37 3 9959311 9959311 + Silent SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr3:9959311G>A ENST00000295981.3 + 1 530 c.312G>A c.(310-312)caG>caA p.Q104Q IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000383812.4_Intron NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 104 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CGGAGCCCCAGAAAAAGGTAG 0.557000 4 107 0 0 1 0 0 SCNN1D 6339 broad.mit.edu 37 1 1226052 1226052 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:1226052G>A ENST00000338555.2 + 12 2547 c.1403G>A c.(1402-1404)aGg>aAg p.R468K SCNN1D_ENST00000379116.5_Missense_Mutation_p.R632K|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R468K|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R534K sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GGGACCTCCAGGTGGCCTTCC 0.647000 28 34 0 0 1 0 0 BPIFB4 149954 broad.mit.edu 37 20 31676772 31676772 + Splice_Site SNP G G T rs149304342 TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr20:31676772G>T ENST00000375483.3 + 6 927 c.926_splice c.e6-1 p.G309_splice NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 309 cytoplasm|extracellular region lipid binding GTCTCCTTAGGCTTCTCCCCA 0.577000 51 93 8.01767e-09 8.56433e-09 1 1 0 TBC1D9 23158 broad.mit.edu 37 4 141598221 141598221 + Missense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr4:141598221G>A ENST00000442267.2 - 6 960 c.886C>T c.(886-888)Cgt>Tgt p.R296C NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 296 GRAM 2. intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AAAAGTGCACGGTATCTCTCA 0.413000 22 42 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 84 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91732036 91732036 + Silent SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:91732036G>C ENST00000359028.2 + 46 11463 c.11238G>C c.(11236-11238)cgG>cgC p.R3746R AKAP9_ENST00000358100.2_Silent_p.R3692R|AKAP9_ENST00000356239.3_Silent_p.R3742R Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3746 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGCTTGCCCGGATGGGGGGGC 0.527000 T BRAF papillary thyroid 8 131 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25488649 25488649 + RNA SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr15:25488649C>A ENST00000453082.2 + 0 2277 NR_003343.1 TGCCCAGCCCCTGAGGCGCTG 0.617000 17 47 3.52763e-06 3.62402e-06 1 1 0 TMX3 54495 broad.mit.edu 37 18 66367685 66367685 + Nonsense_Mutation SNP G G A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr18:66367685G>A ENST00000299608.2 - 6 665 c.349C>T c.(349-351)Cga>Tga p.R117* TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Nonsense_Mutation_p.R117* NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 117 Thioredoxin. cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 TCTTTTGTTCGTGGTCCTCTA 0.254000 26 14 0 0 1 0 0 PLOD2 5352 broad.mit.edu 37 3 145838903 145838903 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr3:145838903C>T ENST00000282903.5 - 3 511 c.334G>A c.(334-336)Gaa>Aaa p.E112K PLOD2_ENST00000494950.1_Missense_Mutation_p.E57K|PLOD2_ENST00000360060.3_Missense_Mutation_p.E112K NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 112 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TCCTACCATTCAGTAAACATG 0.328000 10 59 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 7 84 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22927807 22927807 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:22927807C>T ENST00000166244.3 + 16 2816 c.2744C>T c.(2743-2745)gCc>gTc p.A915V NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 915 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCACCCCCTGCCTTCGTCCGG 0.687000 36 49 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57185237 57185237 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:57185237G>T ENST00000395123.2 - 8 959 c.655C>A c.(655-657)Ccc>Acc p.P219T SLC43A3_ENST00000529554.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000352187.1_Missense_Mutation_p.P219T|SLC43A3_ENST00000533524.1_Missense_Mutation_p.P232T NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 219 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 CTGTAGTTGGGGGGCAGTGGG 0.572000 18 39 5.03518e-11 5.56832e-11 1 1 0 AKAP12 9590 broad.mit.edu 37 6 151674171 151674171 + Missense_Mutation SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:151674171C>A ENST00000402676.2 + 4 4885 c.4645C>A c.(4645-4647)Ctt>Att p.L1549I AKAP12_ENST00000253332.1_Missense_Mutation_p.L1549I|AKAP12_ENST00000359755.5_Missense_Mutation_p.L1444I|AKAP12_ENST00000354675.6_Missense_Mutation_p.L1451I NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1549 RII-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AAGCAGTAAACTTGTCCAAAA 0.453000 39 25 6.97489e-18 8.24704e-18 1 1 0 PCDHB2 56133 broad.mit.edu 37 5 140474518 140474518 + Silent SNP C C A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:140474518C>A ENST00000194155.4 + 1 292 c.144C>A c.(142-144)gcC>gcA p.A48A NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 48 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTTTGTGGCCAATTTGTTAA 0.498000 33 48 2.68265e-12 3.00201e-12 1 1 0 C8orf34 116328 broad.mit.edu 37 8 69552706 69552706 + Nonsense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr8:69552706C>T ENST00000337103.4 + 7 2460 c.868C>T c.(868-870)Cag>Tag p.Q290* C8orf34_ENST00000325233.3_Nonsense_Mutation_p.Q59*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.Q401*|C8orf34_ENST00000539993.1_Nonsense_Mutation_p.Q315* Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 315 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TGCTGAGCCTCAGGCCAAGGT 0.398000 12 61 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75174423 75174423 + Missense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr7:75174423C>T ENST00000336926.6 - 26 2649 c.2623G>A c.(2623-2625)Gcc>Acc p.A875T HIP1_ENST00000434438.2_Missense_Mutation_p.A824T NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 875 I/LWEQ.|Important for actin binding (By similarity). activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GCCTTGGAGGCTGAGATAAGT 0.463000 T PDGFRB CMML 44 92 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37191317 37191317 + Missense_Mutation SNP A A G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr20:37191317A>G ENST00000262879.6 + 24 3958 c.3674A>G c.(3673-3675)gAt>gGt p.D1225G RALGAPB_ENST00000397038.1_Missense_Mutation_p.D1003G|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D1221G|RALGAPB_ENST00000397040.1_Missense_Mutation_p.D1225G Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1225 Rap-GAP. activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AATTGTTGTGATGATGGTGAA 0.403000 32 45 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69656301 69656301 + Nonsense_Mutation SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr12:69656301C>T ENST00000435070.2 + 9 1728 c.1618C>T c.(1618-1620)Cga>Tga p.R540* CPSF6_ENST00000266679.8_Nonsense_Mutation_p.R577*|CPSF6_ENST00000456847.3_Nonsense_Mutation_p.R467*|CPSF6_ENST00000551516.1_Silent_p.T42T NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 540 Arg-rich.|Sufficient for nuclear targeting. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) agaccgtgaccgagagcgtga 0.483000 17 41 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118376471 118376471 + Silent SNP C C T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr11:118376471C>T ENST00000534358.1 + 27 9887 c.9864C>T c.(9862-9864)atC>atT p.I3288I KMT2A_ENST00000354520.4_Silent_p.I3247I|KMT2A_ENST00000389506.5_Silent_p.I3285I NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TCCCCAACATCATAAAAAGAT 0.453000 47 51 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62326980 62326980 + Missense_Mutation SNP G G T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr20:62326980G>T ENST00000318100.4 + 34 4626 c.3799G>T c.(3799-3801)Gcc>Tcc p.A1267S RTEL1_ENST00000370018.3_Intron|RTEL1_ENST00000370003.1_Missense_Mutation_p.A512S|RTEL1_ENST00000360203.5_Missense_Mutation_p.A1267S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1267S|RTEL1_ENST00000508582.2_Intron Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 0 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GCGCTGCCAAGCCTGCTGGCA 0.667000 39 21 1.02591e-13 1.15491e-13 1 1 0 UGT1A5 54579 broad.mit.edu 37 2 234622174 234622174 + Silent SNP T T C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:234622174T>C ENST00000373414.3 + 1 537 c.537T>C c.(535-537)gaT>gaC p.D179D UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron NM_019078.1 NP_061951.1 cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) TTCCATGTGATTTAGACTTTA 0.463000 110 85 0 0 1 0 0 IL1F10 84639 broad.mit.edu 37 2 113832325 113832325 + Missense_Mutation SNP A A T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:113832325A>T ENST00000393197.2 + 3 565 c.144A>T c.(142-144)agA>agT p.R48S IL1F10_ENST00000337569.3_Missense_Mutation_p.R48S|IL1F10_ENST00000341010.2_Missense_Mutation_p.R48S NM_032556.5 NP_115945.4 Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 48 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 TTCCTAACAGAGGCTTGGCCC 0.577000 76 87 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166592 19166592 + Missense_Mutation SNP C C T rs112938926 byFrequency TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:19166592C>T ENST00000375371.3 - 6 2042 c.2021G>A c.(2020-2022)cGc>cAc p.R674H NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 674 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CCCCTGGTAGCGGACCCAGTA 0.567000 33 128 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89661101 89661101 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr1:89661101G>C ENST00000355754.6 - 3 339 c.242C>G c.(241-243)cCt>cGt p.P81R NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 81 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) GGAGCCCAGAGGGAAGCCTGC 0.512000 22 31 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212251650 212251650 + Missense_Mutation SNP G G C TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:212251650G>C ENST00000342788.4 - 27 3719 c.3409C>G c.(3409-3411)Cca>Gca p.P1137A ERBB4_ENST00000402597.1_Missense_Mutation_p.P1127A|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1121A NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1137 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CTCCGTTCTGGGGCAAACACG 0.537000 TSP Lung(8;0.080) 31 38 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13247754 13247754 + Silent SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr9:13247754C>G ENST00000319217.7 - 3 310 c.63G>C c.(61-63)ctG>ctC p.L21L MPDZ_ENST00000447879.1_Silent_p.L21L|MPDZ_ENST00000546205.1_Silent_p.L21L|MPDZ_ENST00000381015.4_Silent_p.L21L|MPDZ_ENST00000381022.2_Silent_p.L21L|MPDZ_ENST00000541718.1_Silent_p.L21L|MPDZ_ENST00000536827.1_Silent_p.L21L NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 21 L27. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CACGTTCTCGCAGCTTGGTTT 0.488000 73 37 0 0 1 0 0 NAE1 8883 broad.mit.edu 37 16 66839718 66839718 + Missense_Mutation SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr16:66839718C>G ENST00000379463.2 - 20 1631 c.1439G>C c.(1438-1440)gGa>gCa p.G480A NAE1_ENST00000359087.4_Missense_Mutation_p.G489A|NAE1_ENST00000290810.3_Missense_Mutation_p.G486A|NAE1_ENST00000394074.2_Missense_Mutation_p.G397A NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 486 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) CTCAGCAGCTCCATATCGGCA 0.398000 12 34 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225368438 225368439 + Frame_Shift_Ins INS - - A TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr2:225368438_225368439insA ENST00000264414.4 - 9 1645_1646 c.1307_1308insT c.(1306-1308)tgcfs p.C436fs CUL3_ENST00000344951.4_Frame_Shift_Ins_p.C370fs|CUL3_ENST00000409096.1_Frame_Shift_Ins_p.C412fs|CUL3_ENST00000409777.1_Frame_Shift_Ins_p.C412fs NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 436 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) GTCTCCTTGCCAAGTGTTGTTT 0.312 29 30 --- --- --- --- N4BP3 23138 broad.mit.edu 37 5 177547308 177547308 + Frame_Shift_Del DEL T T - TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr5:177547308delT ENST00000274605.5 + 3 819 c.460delT c.(460-462)gcfs p.C154fs NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 154 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) 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) CACGCTGGCCTGCCACCCGCC 0.701 12 18 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 29977389 29977393 + RNA DEL CTTCT CTTCT - TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:29977389_29977393delCTTCT ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA AGAACCCTGACTTCTCTTTCTGCAA 0.488 7 45 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr6:88144700delA ENST00000507897.1 + 11 1506 c.1423delA c.(1423-1425)aafs p.K476fs C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 476 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGAAAAGGCCAAAAAAAATAC 0.269 7 206 --- --- --- --- TTLL11 158135 broad.mit.edu 37 9 124854967 124854967 + Splice_Site DEL T T - TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr9:124854967delT ENST00000321582.5 - 1 918 c.732_splice c.e1+1 p.E244_splice TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Splice_Site_p.E244_splice NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 244 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 GGGCCTCACCTCCTTCCACTT 0.706 2 4 --- --- --- --- MTUS2 23281 broad.mit.edu 37 13 29674995 29674995 + Frame_Shift_Del DEL C C - TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr13:29674995delC ENST00000431530.3 + 3 2620 c.2562delC c.(2560-2562)ctfs p.L854fs NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 844 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 ACTCACGTCTCCCGGCAGCCA 0.557 2 4 --- --- --- --- PYGB 5834 broad.mit.edu 37 20 25276271 25276272 + Frame_Shift_Ins INS - - T TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43d4f75b-c262-4451-a43e-27aa35f7f302 3eb55d04-2d9d-495f-94f1-3316c269a5da g.chr20:25276271_25276272insT ENST00000216962.4 + 19 2454_2455 c.2344_2345insT c.(2344-2346)gcafs p.A782fs ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 782 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) TGAAGCCTACATGCAGTGCCAG 0.624 39 46 --- --- --- ---