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 SPTBN1 6711 broad.mit.edu 37 2 54880916 54880916 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:54880916C>T ENST00000333896.5 + 26 6094 c.5709C>T c.(5707-5709)ttC>ttT p.F1903F SPTBN1_ENST00000356805.4_Silent_p.F1916F NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1916 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGTTCCGCTTCTTCAGCATGG 0.597000 24 13 0 0 0.116897 0 0 PRIMPOL 201973 broad.mit.edu 37 4 185606792 185606792 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:185606792C>T ENST00000314970.6 + 11 1682 c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W PRIMPOL_ENST00000515774.1_Missense_Mutation_p.R288W|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.R417W|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.R416W NM_152683.2 NP_689896 primase and polymerase (DNA-directed) 417 TTGTAAATATCGGTGGTGTGA 0.279000 44 37 0 0 0.139131 0 0 FAM13A 10144 broad.mit.edu 37 4 89671584 89671584 + Missense_Mutation SNP G G C rs141057688 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:89671584G>C ENST00000264344.5 - 15 2138 c.1931C>G c.(1930-1932)tCt>tGt p.S644C FAM13A_ENST00000508369.1_Missense_Mutation_p.S318C|FAM13A_ENST00000395002.2_Missense_Mutation_p.S318C|FAM13A_ENST00000503556.1_Missense_Mutation_p.S304C|FAM13A_ENST00000513837.1_Missense_Mutation_p.S290C|FAM13A_ENST00000511976.1_Missense_Mutation_p.S230C NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 644 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 CCTCATGAAAGAATGGGAGTT 0.458000 34 58 0 0 0.225048 0 0 LRP1B 53353 broad.mit.edu 37 2 141128300 141128300 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:141128300C>T ENST00000389484.3 - 71 11958 c.10987G>A c.(10987-10989)Gat>Aat p.D3663N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3663 LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCTCTTCATCACTGCCATCC 0.398000 TSP Lung(27;0.18) 118 102 0 0 0.139131 0 0 UTP14C 9724 broad.mit.edu 37 13 52603133 52603133 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:52603133G>C ENST00000521776.2 + 2 926 c.193G>C c.(193-195)Gag>Cag p.E65Q ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 65 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) TGAGAGGTCTGAGGCTAGTCT 0.468000 74 164 0 0 0.139131 0 0 MAST3 23031 broad.mit.edu 37 19 18255941 18255941 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:18255941G>T ENST00000262811.6 + 23 2854 c.2854G>T c.(2854-2856)Gtt>Ttt p.V952F AC007192.6_ENST00000600364.2_RNA NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 PDZ. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GCCCCCCATCGTTATCCACAG 0.652000 74 105 2.76863e-45 3.03319e-45 0.139131 1 0 ANKRD34A 284615 broad.mit.edu 37 1 145473612 145473612 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:145473612C>T ENST00000323397.4 + 4 1577 c.284C>T c.(283-285)tCg>tTg p.S95L NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 95 endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGGTGGCCTCGCTGCTCCTT 0.721000 29 16 0 0 0.144211 0 0 LMTK2 22853 broad.mit.edu 37 7 97822019 97822019 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:97822019G>C ENST00000297293.5 + 11 2535 c.2242G>C c.(2242-2244)Gaa>Caa p.E748Q NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 748 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCTTCAGACAGAACTTAAGAA 0.343000 17 12 0 0 0.175082 0 0 SPTLC2 9517 broad.mit.edu 37 14 77984460 77984460 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:77984460C>G ENST00000216484.2 - 11 1683 c.1490G>C c.(1489-1491)gGa>gCa p.G497A NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 497 integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGCAGGAAATCCAACCACAAC 0.483000 25 41 0 0 0.099896 0 0 ZNF860 344787 broad.mit.edu 37 3 32031962 32031962 + Missense_Mutation SNP A A G rs1808125 by1000genomes TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:32031962A>G ENST00000360311.4 + 2 1940 c.1391A>G c.(1390-1392)cAt>cGt p.H464R NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCATCACAATTCA 0.418000 6 130 0 0 0.217242 0 0 ITGA6 3655 broad.mit.edu 37 2 173352763 173352763 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:173352763C>T ENST00000375221.2 + 19 2719 c.2516C>T c.(2515-2517)tCg>tTg p.S839L ITGA6_ENST00000343713.4_Missense_Mutation_p.S795L|ITGA6_ENST00000409080.1_Missense_Mutation_p.S800L|ITGA6_ENST00000409532.1_Missense_Mutation_p.S681L|ITGA6_ENST00000264107.7_Missense_Mutation_p.S800L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.S839L P23229 ITA6_HUMAN integrin, alpha 6 839 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TTATCGGTCTCGGGGTAAGTG 0.333000 33 99 0 0 0.246493 0 0 SGTB 54557 broad.mit.edu 37 5 64967757 64967757 + Nonsense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:64967757G>C ENST00000381007.4 - 10 1023 c.788C>G c.(787-789)tCa>tGa p.S263* NM_019072.2 NP_061945.1 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta 263 binding large_intestine(3)|lung(3)|skin(3) 9 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) GATGAGGCTTGACAGGTCAGT 0.423000 16 19 0 0 0.189662 0 0 TTC29 83894 broad.mit.edu 37 4 147754965 147754965 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:147754965G>A ENST00000513335.1 - 10 1247 c.1048C>T c.(1048-1050)Ctg>Ttg p.L350L TTC29_ENST00000398886.4_Silent_p.L350L|TTC29_ENST00000325106.4_Silent_p.L324L Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 324 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TACCTCTGCAGGACCTTGGCT 0.448000 29 32 0 0 0.225048 0 0 STAU1 6780 broad.mit.edu 37 20 47736621 47736621 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:47736621C>G ENST00000371828.3 - 9 1273 c.786G>C c.(784-786)aaG>aaC p.K262N STAU1_ENST00000360426.4_Missense_Mutation_p.K256N|STAU1_ENST00000371856.2_Missense_Mutation_p.K337N|STAU1_ENST00000340954.7_Missense_Mutation_p.K256N|STAU1_ENST00000347458.5_Missense_Mutation_p.K256N|STAU1_ENST00000371802.1_Missense_Mutation_p.K262N|STAU1_ENST00000371792.1_Missense_Mutation_p.K254N NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 337 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TGGCCACCTTCTTGTTGGTGC 0.522000 41 19 0 0 0.139131 0 0 SYNJ2 8871 broad.mit.edu 37 6 158449892 158449892 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:158449892C>T ENST00000355585.4 + 3 394 c.319C>T c.(319-321)Ctt>Ttt p.L107F SYNJ2_ENST00000449859.2_Missense_Mutation_p.L56F|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L107F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L107F NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 107 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTTTTACCCTCTTCAGGAAGA 0.502000 23 16 0 0 0.125774 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36955630 36955630 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:36955630G>C ENST00000269554.3 - 1 528 c.48C>G c.(46-48)ctC>ctG p.L16L PIP4K2B_ENST00000311500.6_5'UTR NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 16 cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 TGCTGGCGCTGAGCGGCGCCA 0.682000 14 20 0 0 0.146539 0 0 DNAH10 196385 broad.mit.edu 37 12 124415937 124415937 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:124415937C>G ENST00000409039.3 + 73 12505 c.12480C>G c.(12478-12480)ctC>ctG p.L4160L DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4160 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGTTTGGTCTCCACCCCAACG 0.577000 29 49 0 0 0.214465 0 0 FGFR3 2261 broad.mit.edu 37 4 1803377 1803377 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1803377G>A ENST00000340107.4 + 6 902 c.646G>A c.(646-648)Gaa>Aaa p.E216K FGFR3_ENST00000440486.2_Missense_Mutation_p.E216K|FGFR3_ENST00000260795.2_Missense_Mutation_p.E216K|FGFR3_ENST00000412135.2_Missense_Mutation_p.E216K|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.E216K|FGFR3_ENST00000352904.1_Missense_Mutation_p.E216K NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 216 Ig-like C2-type 2. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCTGGTCATGGAAAGCGTGGT 0.677000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 16 288 0 0 0.249174 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45899848 45899848 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:45899848G>A ENST00000418234.2 - 4 745 c.667C>T c.(667-669)Cta>Tta p.L223L PPP1R13L_ENST00000360957.5_Silent_p.L223L NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 223 Pro-rich. L -> I (in Ref. 3; AAW51146). apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCGGAGCCTAGCAGGGAGCTC 0.756000 13 9 0 0 0.119110 0 0 HRNR 388697 broad.mit.edu 37 1 152187697 152187697 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:152187697G>A ENST00000368801.2 - 3 6483 c.6408C>T c.(6406-6408)caC>caT p.H2136H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2136 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCTAGAGCCGTGTTGTCCGT 0.557000 106 1159 0 0 0.139131 0 0 WDR20 91833 broad.mit.edu 37 14 102606455 102606455 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:102606455C>G ENST00000322340.5 + 1 244 c.195C>G c.(193-195)ctC>ctG p.L65L WDR20_ENST00000556511.2_Silent_p.L65L|WDR20_ENST00000558567.1_Silent_p.L65L|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000454394.2_Silent_p.L65L|WDR20_ENST00000335263.5_Silent_p.L65L|WDR20_ENST00000342702.3_Silent_p.L65L|WDR20_ENST00000424963.2_5'UTR|WDR20_ENST00000556807.1_Silent_p.L65L|WDR20_ENST00000299135.6_Silent_p.L65L|WDR20_ENST00000499851.2_5'UTR NM_001242415.1 NP_001229344.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 65 p.L65L(1) breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 GCGACCGCCTCTGCTTCAATG 0.637000 25 25 0 0 0.125774 0 0 NANS 54187 broad.mit.edu 37 9 100845193 100845193 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:100845193C>T ENST00000210444.5 + 6 1006 c.936C>T c.(934-936)ctC>ctT p.L312L TRIM14_ENST00000478530.1_Intron|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR NM_018946.3 NP_061819.2 Q9NR45 SIAS_HUMAN N-acetylneuraminic acid synthase 312 AFP-like. lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 Acute lymphoblastic leukemia(62;0.0559) TGGACATGCTCACCGTGAAGG 0.493000 32 5 0 0 0.203993 0 0 EMC1 23065 broad.mit.edu 37 1 19557916 19557916 + Splice_Site SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:19557916C>G ENST00000477853.1 - 16 1825 c.1783G>C c.(1783-1785)Gag>Cag p.E595Q EMC1_ENST00000375208.3_Splice_Site_p.E573Q|EMC1_ENST00000375199.3_Splice_Site_p.E594Q|RP1-43E13.2_ENST00000437898.1_RNA NM_001271427.1|NM_001271428.1|NM_015047.2 NP_001258356.1|NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 ATTCCCGACTCCTAAAATGAG 0.507000 5 13 0 0 0.217242 0 0 C10orf71 118461 broad.mit.edu 37 10 50532111 50532111 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:50532111G>A ENST00000374144.3 + 3 1809 c.1521G>A c.(1519-1521)cgG>cgA p.R507R C10orf71_ENST00000323868.4_Silent_p.R507R Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 507 endometrium(1) 1 AGGACGTGCGGAAGCGTGTTA 0.488000 7 17 0 0 0.080935 0 0 ITIH6 347365 broad.mit.edu 37 X 54783589 54783589 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:54783589G>A ENST00000218436.6 - 8 2947 c.2918C>T c.(2917-2919)tCc>tTc p.S973F NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 973 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity TGTAGGCCTGGAGCTGTTGAG 0.572000 24 0 0 0 0.108266 0 0 TRPM5 29850 broad.mit.edu 37 11 2436597 2436597 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:2436597C>T ENST00000452833.1 - 9 1247 c.1239G>A c.(1237-1239)acG>acA p.T413T TRPM5_ENST00000155858.6_Silent_p.T411T|TRPM5_ENST00000533060.1_Silent_p.T411T|TRPM5_ENST00000528453.1_Silent_p.T411T Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 411 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GCCGCCCATACGTCAGGAAGT 0.652000 5 9 0 0 0.184627 0 0 ATP2B1 490 broad.mit.edu 37 12 89997570 89997570 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:89997570G>C ENST00000428670.3 - 17 3223 c.2767C>G c.(2767-2769)Ctc>Gtc p.L923V ATP2B1_ENST00000393164.2_Missense_Mutation_p.L666V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.L923V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.L923V|ATP2B1_ENST00000348959.3_Missense_Mutation_p.L923V P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 923 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 CGTGAGATGAGAGGCTTATTT 0.418000 48 67 0 0 0.139131 0 0 WDR13 64743 broad.mit.edu 37 X 48457331 48457331 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:48457331C>T ENST00000218056.5 + 2 773 c.268C>T c.(268-270)Ctt>Ttt p.L90F WDR13_ENST00000376729.5_Missense_Mutation_p.L90F|WDR13_ENST00000492715.1_3'UTR NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 90 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 CCGCACTACTCTTGACCGCAT 0.617000 31 4 0 0 0.193644 0 0 TRIP12 9320 broad.mit.edu 37 2 230661454 230661454 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:230661454G>A ENST00000283943.5 - 24 3622 c.3444C>T c.(3442-3444)gtC>gtT p.V1148V TRIP12_ENST00000389044.4_Silent_p.V1196V|TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389045.3_Silent_p.V878V NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1148 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTGACTCTGAGACTATGCTAC 0.373000 19 43 0 0 0.091800 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149020 142149020 + RNA SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:142149020G>A ENST00000390372.3 - 0 257 CTGGCGAGCTGAGAATCGATC 0.532000 58 56 0 0 0.139131 0 0 MAGI2 9863 broad.mit.edu 37 7 77649030 77649030 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:77649030C>T ENST00000354212.4 - 22 4223 c.3970G>A c.(3970-3972)Gcg>Acg p.A1324T MAGI2_ENST00000419488.1_Missense_Mutation_p.A1310T|MAGI2_ENST00000522391.1_3'UTR NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1324 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTCGGCCGCGCGGCCCTCTGC 0.761000 4 4 0 0 0.150653 0 0 ZNF876P 642280 broad.mit.edu 37 4 206531 206531 + RNA SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:206531C>G ENST00000356347.3 + 0 133 NR_027481.1 TTGGATGATTCGTAGCTAAGA 0.632000 3 173 0 0 0.115264 0 0 SPTSSB 165679 broad.mit.edu 37 3 161064103 161064103 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:161064103C>G ENST00000359175.4 - 3 1579 c.9G>C c.(7-9)ttG>ttC p.L3F SPTSSB_ENST00000497137.1_Missense_Mutation_p.L3F NM_001040100.1 NP_001035189.1 Q8NFR3 SSPTB_HUMAN serine palmitoyltransferase, small subunit B 3 sphingolipid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex protein binding TCACACGCCTCAAATCCATGG 0.403000 24 33 0 0 0.134883 0 0 NETO1 81832 broad.mit.edu 37 18 70417577 70417577 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:70417577G>A ENST00000327305.6 - 9 1918 c.1261C>T c.(1261-1263)Cgg>Tgg p.R421W NETO1_ENST00000299430.2_Missense_Mutation_p.R420W|NETO1_ENST00000583169.1_Missense_Mutation_p.R421W NM_138966.3 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 421 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity p.R421R(1) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GATGACCTCCGCAGTTTATGG 0.458000 16 9 0 0 0.204396 0 0 IGSF3 3321 broad.mit.edu 37 1 117150798 117150798 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:117150798G>A ENST00000369486.3 - 5 1753 c.988C>T c.(988-990)Cct>Tct p.P330S IGSF3_ENST00000369483.1_Missense_Mutation_p.P330S|IGSF3_ENST00000318837.6_Missense_Mutation_p.P330S NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 330 Ig-like C2-type 3. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ACAGCGTTAGGACCCATGGTG 0.562000 11 13 0 0 0.119110 0 0 TEAD2 8463 broad.mit.edu 37 19 49852054 49852054 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:49852054G>C ENST00000377214.4 - 7 1012 c.650C>G c.(649-651)tCg>tGg p.S217W TEAD2_ENST00000601519.1_Missense_Mutation_p.S217W|TEAD2_ENST00000311227.2_Missense_Mutation_p.S214W|TEAD2_ENST00000539846.1_Missense_Mutation_p.S86W|TEAD2_ENST00000593945.1_Missense_Mutation_p.S218W|TEAD2_ENST00000598810.1_Missense_Mutation_p.S218W|TEAD2_ENST00000598397.1_5'UTR Q15562 TEAD2_HUMAN TEA domain family member 2 214 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GGCTGGGGGCGATGGGGTAGG 0.572000 11 7 0 0 0.080935 0 0 NELFA 7469 broad.mit.edu 37 4 1985607 1985607 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1985607G>A ENST00000382882.3 - 9 2420 c.1303C>T c.(1303-1305)Cag>Tag p.Q435* NELFA_ENST00000542778.1_Nonsense_Mutation_p.Q289*|NELFA_ENST00000411638.2_Nonsense_Mutation_p.Q424* negative elongation factor complex member A GGCTGCTGCTGAGCAGGGGCC 0.672000 58 39 0 0 0.139131 0 0 ARHGEF35 445328 broad.mit.edu 37 7 143885433 143885433 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:143885433G>A ENST00000378115.2 - 2 173 c.44C>T c.(43-45)tCt>tTt p.S15F ARHGEF35_ENST00000543357.1_Missense_Mutation_p.S15F NM_001003702.2 NP_001003702.2 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 35 15 kidney(1)|large_intestine(1)|lung(3)|stomach(1) 6 CTCTATGGCAGAGATGGGAGG 0.512000 24 62 0 0 0.116897 0 0 TOP1MT 116447 broad.mit.edu 37 8 144411592 144411592 + Silent SNP A A G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:144411592A>G ENST00000329245.4 - 3 322 c.288T>C c.(286-288)taT>taC p.Y96Y TOP1MT_ENST00000519148.1_5'UTR|TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR NM_052963.2 NP_443195.1 Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 96 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) ACATCCTCCCATAAAAAGTGG 0.552000 30 105 0 0 0.203993 0 0 VWA3B 200403 broad.mit.edu 37 2 98810866 98810866 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:98810866G>C ENST00000477737.1 + 12 1852 c.1648G>C c.(1648-1650)Gat>Cat p.D550H VWA3B_ENST00000451075.2_Missense_Mutation_p.D400H|VWA3B_ENST00000435344.1_Missense_Mutation_p.D550H NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 550 VWFA. NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTGAAGTTTGATGGTCAAGC 0.373000 78 57 0 0 0.139131 0 0 DENND5B 160518 broad.mit.edu 37 12 31540565 31540565 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:31540565C>T ENST00000389082.5 - 21 4061 c.3797G>A c.(3796-3798)gGa>gAa p.G1266E DENND5B_ENST00000536562.1_Missense_Mutation_p.G1301E|DENND5B_ENST00000306833.6_Missense_Mutation_p.G1301E NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1266 RUN 2. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GATGAGTGATCCTTCTAGGAC 0.498000 20 33 0 0 0.116897 0 0 POLN 353497 broad.mit.edu 37 4 2129877 2129877 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:2129877C>G ENST00000511885.2 - 19 2298 c.1945G>C c.(1945-1947)Gaa>Caa p.E649Q POLN_ENST00000382865.1_Missense_Mutation_p.E649Q Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 649 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TCATCTCTTTCAGATTCCTGG 0.373000 DNA polymerases (catalytic subunits) 40 25 0 0 0.139131 0 0 TRMT6 51605 broad.mit.edu 37 20 5927104 5927104 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:5927104C>T ENST00000203001.2 - 2 334 c.204G>A c.(202-204)gtG>gtA p.V68V TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR NM_015939.3 NP_057023.2 Q9UJA5 TRM6_HUMAN tRNA methyltransferase 6 homolog (S. cerevisiae) 68 regulation of translational initiation|tRNA processing nucleus protein binding|translation initiation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 15 CTCCACTGGTCACTTCAAATG 0.418000 31 55 0 0 0.193644 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319000 21319000 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:21319000G>A ENST00000583088.1 + 3 1241 c.346G>A c.(346-348)Gag>Aag p.E116K KCNJ12_ENST00000331718.5_Missense_Mutation_p.E116K NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GGAGCCGGCTGAGGGCCGGGG 0.647000 Prostate(3;0.18) 13 46 0 0 0.160694 0 0 C11orf83 790955 broad.mit.edu 37 11 62439585 62439585 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:62439585G>A ENST00000531323.1 + 3 824 c.281G>A c.(280-282)tGa>tAa p.*94* C11orf83_ENST00000377953.3_Silent_p.*94* Q6UW78 CK083_HUMAN chromosome 11 open reading frame 83 0 extracellular region cervix(1)|lung(1)|prostate(1) 3 AGGTCACCGTGAGACCGGACT 0.687000 2 1 0 0 0.115264 0 0 ITGB4 3691 broad.mit.edu 37 17 73749862 73749862 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:73749862C>G ENST00000200181.3 + 33 4312 c.4125C>G c.(4123-4125)ttC>ttG p.F1375L ITGB4_ENST00000339591.3_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000450894.3_Intron NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1375 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGGAAGTTCGAGCCCCTGC 0.761000 14 15 0 0 0.234183 0 0 PPIC 5480 broad.mit.edu 37 5 122364492 122364492 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:122364492G>A ENST00000306442.4 - 3 418 c.303C>T c.(301-303)atC>atT p.I101I NM_000943.4 NP_000934.1 P45877 PPIC_HUMAN peptidylprolyl isomerase C (cyclophilin C) 101 PPIase cyclophilin-type. protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) CTCCAGTGGTGATGTCACCTC 0.393000 13 28 0 0 0.132662 0 0 PCNXL2 80003 broad.mit.edu 37 1 233136233 233136233 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:233136233C>T ENST00000258229.9 - 30 5380 c.5146G>A c.(5146-5148)Gag>Aag p.E1716K PCNXL2_ENST00000344698.2_Missense_Mutation_p.E368K NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TGGATGGCCTCGTAGAGGACT 0.612000 7 7 0 0 0.038147 0 0 WDR44 54521 broad.mit.edu 37 X 117566847 117566847 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:117566847C>T ENST00000254029.3 + 13 2236 c.1841C>T c.(1840-1842)tCa>tTa p.S614L WDR44_ENST00000371822.5_Missense_Mutation_p.S589L|WDR44_ENST00000371825.3_Missense_Mutation_p.S614L NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 614 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 CTTGATCTTTCATGGTCTAAA 0.393000 47 4 0 0 0.139131 0 0 HDLBP 3069 broad.mit.edu 37 2 242187661 242187661 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:242187661C>G ENST00000391975.1 - 13 1842 c.1615G>C c.(1615-1617)Gag>Cag p.E539Q HDLBP_ENST00000427183.2_Missense_Mutation_p.E506Q|HDLBP_ENST00000391976.2_Missense_Mutation_p.E539Q|HDLBP_ENST00000310931.4_Missense_Mutation_p.E539Q NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 539 KH 6. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AACTTTACCTCTGGGAATTTG 0.403000 29 68 0 0 0.153744 0 0 ZNF479 90827 broad.mit.edu 37 7 57187725 57187725 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:57187725G>T ENST00000331162.4 - 5 1667 c.1397C>A c.(1396-1398)aCa>aAa p.T466K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATGTGTAGGGTCT 0.428000 5 154 0.0477658 0.0484537 0.047766 1 0 NMRK2 27231 broad.mit.edu 37 19 3938612 3938612 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:3938612C>T ENST00000168977.2 + 5 468 c.178C>T c.(178-180)Ctg>Ttg p.L60L NMRK2_ENST00000593949.1_Silent_p.L65L|NMRK2_ENST00000599576.1_Silent_p.L51L NM_170678.2 NP_733778.1 nicotinamide riboside kinase 2 GCTGGAGTCTCTGGACATGGA 0.682000 15 22 0 0 0.175082 0 0 GLT8D2 83468 broad.mit.edu 37 12 104388223 104388223 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:104388223G>A ENST00000360814.4 - 9 1062 c.657C>T c.(655-657)atC>atT p.I219I GLT8D2_ENST00000546436.1_Silent_p.I219I|GLT8D2_ENST00000548660.1_Silent_p.I219I NM_031302.3 NP_112592.1 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 219 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 TGCTGGGGCTGATGCCAAGGT 0.483000 28 27 0 0 0.173368 0 0 CCKBR 887 broad.mit.edu 37 11 6281307 6281307 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:6281307G>A ENST00000525462.1 + 1 152 c.149G>A c.(148-150)cGa>cAa p.R50Q CCKBR_ENST00000531712.1_Missense_Mutation_p.R50Q|CCKBR_ENST00000334619.2_Missense_Mutation_p.R50Q|CCKBR_ENST00000532715.1_Missense_Mutation_p.R50Q|CCKBR_ENST00000525014.1_Missense_Mutation_p.R50Q P32239 GASR_HUMAN cholecystokinin B receptor 50 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GCCGGGACACGAGGTGGGTGC 0.647000 21 29 0 0 0.134883 0 0 HNRNPM 4670 broad.mit.edu 37 19 8509966 8509966 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:8509966G>T ENST00000348943.3 + 1 316 c.84G>T c.(82-84)ccG>ccT p.P28P HNRNPM_ENST00000325495.4_Silent_p.P28P NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 28 APGVPSGNGAP -> GPACERQRGS (in Ref. 1; AAA36192). alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 CCGGCGTGCCGAGCGGCAACG 0.711000 4 1 0.014758 0.0150324 0.184627 1 0 NOC3L 64318 broad.mit.edu 37 10 96116974 96116974 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:96116974G>C ENST00000371361.3 - 4 565 c.465C>G c.(463-465)atC>atG p.I155M NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.I155M NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 155 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) TTTTATCTTTGATAGGAAGTA 0.368000 41 33 0 0 0.139131 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129680905 129680905 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:129680905G>C ENST00000358303.4 - 3 379 c.295C>G c.(295-297)Cca>Gca p.P99A ZC3HC1_ENST00000311873.5_Missense_Mutation_p.P78A|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.P99A|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.P99A NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 99 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) CAGACGAGTGGAGACAGCTCA 0.413000 110 191 0 0 0.139131 0 0 TMEM63C 57156 broad.mit.edu 37 14 77709324 77709324 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:77709324C>G ENST00000298351.4 + 15 1410 c.1266C>G c.(1264-1266)ttC>ttG p.F422L NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 422 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TCCTCTTCTTCTTTCTCACCA 0.552000 19 31 0 0 0.219247 0 0 ZNF600 162966 broad.mit.edu 37 19 53269283 53269283 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:53269283G>A ENST00000338230.3 - 3 1993 c.1726C>T c.(1726-1728)Cat>Tat p.H576Y NM_198457.2 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) TCTCCAGTATGAAGTCTACGA 0.438000 113 117 0 0 0.139131 0 0 SIN3A 25942 broad.mit.edu 37 15 75668200 75668200 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:75668200T>C ENST00000394947.3 - 20 3711 c.3397A>G c.(3397-3399)Atc>Gtc p.I1133V SIN3A_ENST00000360439.4_Missense_Mutation_p.I1133V|SIN3A_ENST00000394949.4_Missense_Mutation_p.I1133V NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 1133 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CACTTCCGGATCCGCCGTAGA 0.493000 19 95 0 0 0.139131 0 0 ECM2 1842 broad.mit.edu 37 9 95277062 95277062 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:95277062G>C ENST00000344604.5 - 4 1054 c.905C>G c.(904-906)tCt>tGt p.S302C ECM2_ENST00000444490.2_Missense_Mutation_p.S280C|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 302 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 CGGGGATCGAGAGGGCATTCG 0.612000 31 6 0 0 0.183431 0 0 C2ORF15 150590 broad.mit.edu 37 2 99767109 99767109 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:99767109G>A ENST00000302513.2 + 4 826 c.190G>A c.(190-192)Gaa>Aaa p.E64K TSGA10_ENST00000393483.3_Intron|C2ORF15_ENST00000409684.1_Missense_Mutation_p.E64K NM_144706.2 NP_653307.1 64 ACGAGGGACTGAAAAAAGCAG 0.363000 12 14 0 0 0.132662 0 0 HRH1 3269 broad.mit.edu 37 3 11300932 11300932 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:11300932C>T ENST00000397056.1 + 3 400 c.209C>T c.(208-210)tCg>tTg p.S70L HRH1_ENST00000431010.2_Missense_Mutation_p.S70L|HRH1_ENST00000438284.2_Missense_Mutation_p.S70L NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 70 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GTCAGCCTCTCGGTGGCGGAC 0.577000 43 45 0 0 0.139131 0 0 ACAN 176 broad.mit.edu 37 15 89398558 89398558 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:89398558G>A ENST00000439576.2 + 12 3116 c.2742G>A c.(2740-2742)gtG>gtA p.V914V ACAN_ENST00000559004.1_Silent_p.V914V|ACAN_ENST00000561243.1_Silent_p.V914V|ACAN_ENST00000352105.7_Silent_p.V914V NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 914 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GCCTGCCTGTGGAAAGTGGAC 0.587000 12 16 0 0 0.132662 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46020560 46020560 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:46020560G>A ENST00000380102.2 + 1 64 c.39G>A c.(37-39)ctG>ctA p.L13L TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 13 keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CCAGCGACCTGAGCTACGGCA 0.622000 24 31 0 0 0.163468 0 0 ITGA11 22801 broad.mit.edu 37 15 68649618 68649618 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:68649618C>G ENST00000423218.2 - 7 715 c.620G>C c.(619-621)gGc>gCc p.G207A ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Missense_Mutation_p.G207A Q9UKX5 ITA11_HUMAN integrin, alpha 11 207 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CACATCTTCGCCATACTGCAC 0.507000 43 59 0 0 0.139131 0 0 SLC4A4 8671 broad.mit.edu 37 4 72222830 72222830 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:72222830C>A ENST00000340595.3 + 3 720 c.524C>A c.(523-525)tCc>tAc p.S175Y SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S219Y|SLC4A4_ENST00000512686.1_Missense_Mutation_p.S175Y|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S219Y|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S219Y NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 219 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ACCAAGAAATCCAACCTTCGG 0.483000 65 73 8.87156e-34 9.69773e-34 0.139131 1 0 PDGFRB 5159 broad.mit.edu 37 5 149498309 149498309 + Splice_Site SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:149498309C>A ENST00000261799.4 - 21 3374 c.e21+1 NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCTCAACATACCTTTTTGTAA 0.557000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 49 33 8.72158e-25 9.44998e-25 0.139131 1 0 INTS2 57508 broad.mit.edu 37 17 59981823 59981823 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:59981823G>A ENST00000444766.3 - 9 1404 c.1329C>T c.(1327-1329)gtC>gtT p.V443V INTS2_ENST00000251334.6_Silent_p.V435V NM_020748.2 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 443 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 TTAGGTACCTGACAAGTGTAG 0.388000 3 5 0 0 0.184627 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19427759 19427759 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:19427759C>G ENST00000538714.1 + 10 1141 c.1137C>G c.(1135-1137)gtC>gtG p.V379V PLEKHA5_ENST00000359180.3_Silent_p.V379V|PLEKHA5_ENST00000543806.1_Silent_p.V271V|PLEKHA5_ENST00000299275.6_Silent_p.V379V|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000424268.1_Silent_p.V271V|PLEKHA5_ENST00000355397.3_Silent_p.V379V|PLEKHA5_ENST00000317589.4_Silent_p.V379V|PLEKHA5_ENST00000539256.1_Silent_p.V137V|PLEKHA5_ENST00000429027.2_Silent_p.V385V|PLEKHA5_ENST00000309364.4_Silent_p.V379V NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 379 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ACAAAATAGTCAATGTTAGCC 0.468000 29 60 0 0 0.144211 0 0 TAF4 6874 broad.mit.edu 37 20 60582637 60582637 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:60582637G>A ENST00000252996.4 - 6 1939 c.1940C>T c.(1939-1941)tCt>tTt p.S647F NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TTGAGGTGAAGAATTAAGTTC 0.458000 134 75 0 0 0.139131 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36233667 36233667 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:36233667C>G ENST00000412391.2 - 8 629 c.616G>C c.(616-618)Gag>Cag p.E206Q U2AF1L4_ENST00000292879.5_Missense_Mutation_p.E147D|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.E167Q|AD000671.6_ENST00000589807.1_Intron Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 206 mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGGTTCCTCTCTCGGGGATGG 0.602000 46 74 0 0 0.139131 0 0 YTHDF3 253943 broad.mit.edu 37 8 64099964 64099964 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:64099964C>T ENST00000539294.1 + 4 1708 c.1392C>T c.(1390-1392)ttC>ttT p.F464F YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_Silent_p.F275F NM_001277817.1|NM_001277818.1|NM_152758.4 NP_001264746.1|NP_001264747.1|NP_689971.4 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 465 YTH. Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) ATTTACTCTTCAGTGTGAATG 0.448000 22 27 0 0 0.099896 0 0 FAT2 2196 broad.mit.edu 37 5 150935954 150935954 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:150935954G>C ENST00000261800.5 - 3 3596 c.3584C>G c.(3583-3585)tCt>tGt p.S1195C NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1195 Cadherin 10. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGGGCTGTAGATAGGAGACC 0.458000 23 32 0 0 0.116897 0 0 LRRC45 201255 broad.mit.edu 37 17 79988565 79988565 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:79988565G>A ENST00000306688.3 + 17 2239 c.1897G>A c.(1897-1899)Gag>Aag p.E633K NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 633 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 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) GCGGCTCCGGGAGGCGGAGAT 0.697000 7 3 0 0 0.038147 0 0 MECOM 2122 broad.mit.edu 37 3 168830619 168830619 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:168830619C>G ENST00000464456.1 - 8 3169 c.1969G>C c.(1969-1971)Gag>Cag p.E657Q MECOM_ENST00000494292.1_Missense_Mutation_p.E845Q|MECOM_ENST00000460814.1_Missense_Mutation_p.E657Q|MECOM_ENST00000392736.3_Missense_Mutation_p.E657Q|MECOM_ENST00000472280.1_Missense_Mutation_p.E658Q|MECOM_ENST00000468789.1_Missense_Mutation_p.E657Q|MECOM_ENST00000264674.3_Missense_Mutation_p.E722Q|MECOM_ENST00000433243.2_Missense_Mutation_p.E658Q NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AAGTATTTCTCTTTTAAAGCT 0.353000 28 43 0 0 0.214465 0 0 DLGAP2 9228 broad.mit.edu 37 8 1645432 1645432 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:1645432C>T ENST00000421627.2 + 11 2810 c.2676C>T c.(2674-2676)aaC>aaT p.N892N NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 971 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGCGGCTCAACGACTGGAAGA 0.612000 9 114 0 0 0.093190 0 0 SEPT5 5413 broad.mit.edu 37 22 19709361 19709361 + Silent SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:19709361T>C ENST00000438754.2 + 9 1127 c.847T>C c.(847-849)Ttg>Ctg p.L283L SEPT5_ENST00000383045.3_Silent_p.H286H|SEPT5_ENST00000406395.1_Silent_p.L274L|SEPT5_ENST00000455784.2_Silent_p.H277H NM_001009939.2 NP_001009939.1 Q99719 SEPT5_HUMAN septin 5 0 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) ACCAGGCGCATTGCGACTTCG 0.632000 7 62 0 0 0.248553 0 0 ST14 6768 broad.mit.edu 37 11 130058506 130058506 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:130058506C>T ENST00000278742.5 + 3 741 c.323C>T c.(322-324)tCc>tTc p.S108F NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 108 proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TACGAGAACTCCAACTCCACT 0.562000 23 50 0 0 0.134883 0 0 KMT2C 58508 broad.mit.edu 37 7 151891214 151891214 + Splice_Site SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:151891214C>G ENST00000355193.2 - 31 4759 c.e31-1 KMT2C_ENST00000262189.6_Splice_Site lysine (K)-specific methyltransferase 2C CCGCCAAGCTCTAGGAGATAA 0.418000 30 32 0 0 0.163468 0 0 VWA7 80737 broad.mit.edu 37 6 31735166 31735166 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:31735166C>T ENST00000375686.3 - 12 1999 c.1762G>A c.(1762-1764)Gag>Aag p.E588K VWA7_ENST00000375688.4_Missense_Mutation_p.E588K|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.E588K NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 588 extracellular region GGGGTGTCCTCAGCTGTGACC 0.592000 36 53 0 0 0.139131 0 0 DIRC2 84925 broad.mit.edu 37 3 122552196 122552196 + Missense_Mutation SNP A A T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:122552196A>T ENST00000261038.5 + 4 1134 c.736A>T c.(736-738)Aca>Tca p.T246S NM_032839.2 NP_116228.1 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 246 transport integral to membrane endometrium(2)|large_intestine(1)|lung(14)|prostate(1) 18 GBM - Glioblastoma multiforme(114;0.0614) ATTTTCTGCAACACTAGCTTA 0.393000 21 152 0 0 0.091800 0 0 OBP2B 29989 broad.mit.edu 37 9 136081794 136081794 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:136081794G>A ENST00000372034.3 - 5 439 c.398C>T c.(397-399)tCt>tTt p.S133F OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR NM_014581.2 NP_055396.1 Q9NPH6 OBP2B_HUMAN odorant binding protein 2B 133 chemosensory behavior|sensory perception of smell extracellular region odorant binding|transporter activity central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05) GTTGGTATCAGAATTCCTACC 0.612000 23 5 0 0 0.083992 0 0 LINC00610 399879 broad.mit.edu 37 11 36293222 36293222 + RNA SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:36293222G>A ENST00000355500.1 - 0 349 CCGTCCTGATGAATACATAAG 0.483000 6 12 0 0 0.217242 0 0 IDI2 91734 broad.mit.edu 37 10 1070566 1070566 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:1070566G>A ENST00000277517.1 - 2 162 c.98C>T c.(97-99)gCc>gTc p.A33V IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA NM_033261.2 NP_150286.1 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 33 carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) CTTGGTGTCGGCACCAATAAC 0.478000 3 43 0 0 0.115264 0 0 RAPGEFL1 51195 broad.mit.edu 37 17 38345517 38345517 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:38345517C>T ENST00000436615.3 + 6 876 c.386C>T c.(385-387)tCa>tTa p.S129L RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.S129L|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.S184L|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.S178L NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 335 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 AGCCGCCTTTCAGCATCTGTG 0.537000 9 246 0 0 0.058154 0 0 HTATSF1 27336 broad.mit.edu 37 X 135593753 135593753 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:135593753G>C ENST00000535601.1 + 10 2271 c.1849G>C c.(1849-1851)Gag>Cag p.E617Q HTATSF1_ENST00000218364.4_Missense_Mutation_p.E617Q NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 617 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) GGAAGGCTCTGAGAGAGAGTT 0.363000 33 5 0 0 0.225048 0 0 ACTR8 93973 broad.mit.edu 37 3 53908332 53908332 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:53908332C>T ENST00000335754.3 - 8 1071 c.971G>A c.(970-972)cGa>cAa p.R324Q ACTR8_ENST00000231909.7_Intron|ACTR8_ENST00000482349.1_Missense_Mutation_p.R213Q NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 324 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) GAACCCAGCTCGCTGCATTAG 0.398000 29 28 0 0 0.173368 0 0 PEX26 55670 broad.mit.edu 37 22 18561373 18561373 + Splice_Site SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:18561373G>C ENST00000329627.7 + 2 436 c.e2+1 XXbac-B476C20.9_ENST00000607927.1_RNA|PEX26_ENST00000399744.3_Splice_Site|PEX26_ENST00000428061.2_Splice_Site NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CCGCGGGCACGTACGTGCTGG 0.647000 5 7 0 0 0.217242 0 0 ARHGEF37 389337 broad.mit.edu 37 5 148999931 148999931 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:148999931C>T ENST00000333677.6 + 8 1072 c.909C>T c.(907-909)ttC>ttT p.F303F NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 303 BAR. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TCCTCTACTTCAGGCCGCACG 0.512000 21 94 0 0 0.153744 0 0 ABCA5 23461 broad.mit.edu 37 17 67255906 67255906 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:67255906G>C ENST00000392676.3 - 28 3736 c.3672C>G c.(3670-3672)ctC>ctG p.L1224L ABCA5_ENST00000588877.1_Silent_p.L1224L|ABCA5_ENST00000392677.2_Silent_p.L1225L Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1224 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) AGTATTGTAAGAGGAAAATCC 0.308000 21 39 0 0 0.116897 0 0 ZC3H4 23211 broad.mit.edu 37 19 47597706 47597706 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:47597706C>T ENST00000253048.5 - 3 358 c.321G>A c.(319-321)cgG>cgA p.R107R ZC3H4_ENST00000594019.1_5'UTR NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 107 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) GCTCTTTCTTCCGTTTCCGCT 0.537000 124 212 0 0 0.139131 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114192016 114192016 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:114192016C>G ENST00000369405.3 - 10 1543 c.1120G>C c.(1120-1122)Gat>Cat p.D374H ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.D370H NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 374 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) AAGGAATCATCAAGAATTTTG 0.274000 5 11 0 0 0.217242 0 0 ADCY3 109 broad.mit.edu 37 2 25044461 25044461 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:25044461C>T ENST00000260600.5 - 19 3903 c.3052G>A c.(3052-3054)Gac>Aac p.D1018N CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.D605N|CENPO_ENST00000380834.2_3'UTR NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 1018 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) AGCGCGAAGTCGGCCAGGTCA 0.612000 60 192 0 0 0.139131 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66766331 66766331 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:66766331G>C ENST00000258198.2 - 7 1046 c.840C>G c.(838-840)ctC>ctG p.L280L DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000440564.2_Silent_p.L241L|DYNC1LI2_ENST00000443351.2_Silent_p.L203L NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 280 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) ACAACAAGTCGAGGTTTTTCT 0.373000 10 23 0 0 0.069234 0 0 FOXF1 2294 broad.mit.edu 37 16 86544388 86544388 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:86544388G>A ENST00000262426.4 + 1 256 c.213G>A c.(211-213)ctG>ctA p.L71L NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 71 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 GCCTGACGCTGAGCGAGATCT 0.627000 37 27 0 0 0.131918 0 0 ARHGEF38 54848 broad.mit.edu 37 4 106510538 106510538 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:106510538C>G ENST00000420470.2 + 2 474 c.330C>G c.(328-330)ctC>ctG p.L110L ARHGEF38_ENST00000265154.2_Silent_p.L110L NM_001242729.1 NP_001229658.1 Q9NXL2 ARH38_HUMAN Rho guanine nucleotide exchange factor (GEF) 38 110 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3) 11 AGGATTATCTCAATGATCTAG 0.378000 29 43 0 0 0.225048 0 0 KIAA1109 84162 broad.mit.edu 37 4 123159417 123159417 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:123159417G>A ENST00000264501.4 + 28 4118 c.3745G>A c.(3745-3747)Gaa>Aaa p.E1249K KIAA1109_ENST00000455637.1_Missense_Mutation_p.E1249K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E1249K|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 1249 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTTGGCTGGTGAAAAGGAAAG 0.433000 34 33 0 0 0.225048 0 0 KCNJ10 3766 broad.mit.edu 37 1 160012277 160012277 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:160012277C>G ENST00000368089.3 - 2 272 c.46G>C c.(46-48)Gaa>Caa p.E16Q NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 16 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGCCGGCTTTCTGTCTGAGTG 0.532000 142 30 0 0 0.139131 0 0 MTMR14 64419 broad.mit.edu 37 3 9743604 9743604 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:9743604G>C ENST00000296003.4 + 19 2022 c.1900G>C c.(1900-1902)Gag>Cag p.E634Q MTMR14_ENST00000353332.5_Missense_Mutation_p.E582Q|MTMR14_ENST00000420925.1_Missense_Mutation_p.E276Q|MTMR14_ENST00000351233.5_Missense_Mutation_p.E522Q NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 634 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) GGGCCTGCTGGAGCAATTTGC 0.617000 49 76 0 0 0.139131 0 0 TRPS1 7227 broad.mit.edu 37 8 116616766 116616766 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:116616766G>A ENST00000395715.3 - 4 2007 c.1430C>T c.(1429-1431)tCa>tTa p.S477L TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.S464L|TRPS1_ENST00000520276.1_Missense_Mutation_p.S468L|TRPS1_ENST00000220888.5_Missense_Mutation_p.S464L NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 464 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AAGGCCGCCTGACTGCACTGC 0.433000 Langer-Giedion syndrome 20 34 0 0 0.249174 0 0 ST14 6768 broad.mit.edu 37 11 130066275 130066275 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:130066275C>T ENST00000278742.5 + 10 1573 c.1155C>T c.(1153-1155)ttC>ttT p.F385F NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 385 CUB 2. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TCAAATTCTTCTACCTGCTGG 0.632000 6 7 0 0 0.058154 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499551 34499551 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:34499551C>G ENST00000538621.1 + 9 1457 c.1212C>G c.(1210-1212)ctC>ctG p.L404L PACSIN1_ENST00000374043.2_Silent_p.L362L|PACSIN1_ENST00000244458.2_Silent_p.L404L NM_001199583.2 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 404 SH3. endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 AGGACGAGCTCAGCTTTAAGG 0.652000 46 67 0 0 0.139131 0 0 CD101 9398 broad.mit.edu 37 1 117556174 117556174 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:117556174G>A ENST00000256652.4 + 4 1046 c.988G>A c.(988-990)Gat>Aat p.D330N CD101_ENST00000369470.1_Missense_Mutation_p.D330N NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 330 Ig-like C2-type 3. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGCTCACATTGATGCTGGTGG 0.493000 8 73 0 0 0.069234 0 0 YTHDF3 253943 broad.mit.edu 37 8 64100049 64100049 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:64100049C>G ENST00000539294.1 + 4 1793 c.1477C>G c.(1477-1479)Cag>Gag p.Q493E YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_Missense_Mutation_p.Q304E NM_001277817.1|NM_001277818.1|NM_152758.4 NP_001264746.1|NP_001264747.1|NP_689971.4 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 494 YTH. Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) TGTCTGGTCTCAGGATAAGTG 0.388000 31 27 0 0 0.246493 0 0 FBXW7 55294 broad.mit.edu 37 4 153303406 153303406 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:153303406G>C ENST00000296555.5 - 1 261 c.82C>G c.(82-84)Caa>Gaa p.Q28E FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000281708.4_Intron NM_001013415.1 NP_001013433.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 0 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATCACAGTTTGATGTGGTAGA 0.388000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 29 39 0 0 0.183431 0 0 HES4 57801 broad.mit.edu 37 1 934921 934921 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:934921G>A ENST00000428771.2 - 2 553 c.355C>T c.(355-357)Cgc>Tgc p.R119C HES4_ENST00000304952.6_Missense_Mutation_p.R93C|HES4_ENST00000484667.2_Missense_Mutation_p.R61C NM_001142467.1|NM_021170.3 NP_001135939.1|NP_066993.1 Q9HCC6 HES4_HUMAN hes family bHLH transcription factor 4 93 Orange. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding lung(2) 2 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACCTGCACGCGACGCAGGCTC 0.736000 3 10 0 0 0.115264 0 0 WSB2 55884 broad.mit.edu 37 12 118490215 118490215 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:118490215C>G ENST00000315436.3 - 2 223 c.82G>C c.(82-84)Gaa>Caa p.E28Q WSB2_ENST00000441406.2_Missense_Mutation_p.E45Q|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.E30Q|WSB2_ENST00000542304.1_5'UTR NM_001278557.1|NM_018639.3 NP_001265486.1|NP_061109.1 Q9NYS7 WSB2_HUMAN WD repeat and SOCS box containing 2 28 intracellular signal transduction breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCAGGTTTCACAGCTGGAC 0.587000 78 106 0 0 0.139131 0 0 FBXO30 84085 broad.mit.edu 37 6 146127103 146127103 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:146127103C>T ENST00000237281.4 - 2 605 c.439G>A c.(439-441)Gat>Aat p.D147N NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 147 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) GATACTTTATCAGTTGCTTTT 0.403000 53 36 0 0 0.139131 0 0 SRP72 6731 broad.mit.edu 37 4 57356772 57356772 + Missense_Mutation SNP T T A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:57356772T>A ENST00000342756.5 + 15 2184 c.1463T>A c.(1462-1464)aTt>aAt p.I488N SRP72_ENST00000510663.1_Missense_Mutation_p.I427N NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 488 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) GCACAGCTTATTTCTGCTTAC 0.333000 21 20 0 0 0.108266 0 0 PDIA3 2923 broad.mit.edu 37 15 44057680 44057680 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:44057680C>G ENST00000300289.5 + 6 783 c.635C>G c.(634-636)aCt>aGt p.T212S PDIA3_ENST00000538521.1_Missense_Mutation_p.T192S NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 212 cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction endoplasmic reticulum lumen|melanosome cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) TCACATCTCACTAACAAGTTT 0.348000 33 46 0 0 0.225048 0 0 ARFGAP1 55738 broad.mit.edu 37 20 61910306 61910306 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:61910306G>C ENST00000370275.4 + 7 678 c.586G>C c.(586-588)Gaa>Caa p.E196Q ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E143Q|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E83Q|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E196Q|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.E196Q|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E122Q NM_001281482.1 NP_001268411.1 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 196 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) TCAGAAGAAAGAAGATGACTT 0.597000 63 23 0 0 0.139131 0 0 HFM1 164045 broad.mit.edu 37 1 91778938 91778938 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:91778938G>A ENST00000370425.3 - 30 3457 c.3359C>T c.(3358-3360)tCa>tTa p.S1120L HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S799L|HFM1_ENST00000294696.5_Missense_Mutation_p.S352L NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1120 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.S1120L(1) 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) AGATATGTCTGAATGTTTAGA 0.328000 4 74 0 0 0.217242 0 0 SYNGR3 9143 broad.mit.edu 37 16 2042986 2042986 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:2042986C>T ENST00000248121.2 + 4 761 c.603C>T c.(601-603)ggC>ggT p.G201G SYNGR3_ENST00000562045.1_3'UTR NM_004209.5 NP_004200.2 O43761 SNG3_HUMAN synaptogyrin 3 201 positive regulation of transporter activity cell junction|integral to plasma membrane|synaptic vesicle endometrium(1)|lung(2) 3 TGGGCAGCGGCGTGGAGGGCA 0.692000 13 26 0 0 0.204396 0 0 TMEM50A 23585 broad.mit.edu 37 1 25678151 25678151 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:25678151G>T ENST00000374358.4 + 4 794 c.241G>T c.(241-243)Gat>Tat p.D81Y TMEM50A_ENST00000480937.1_3'UTR NM_014313.3 NP_055128.1 O95807 TM50A_HUMAN transmembrane protein 50A 81 endoplasmic reticulum|integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204) AGTCCGAGGTGATAGTTACAG 0.358000 44 46 1.20466e-24 1.30241e-24 0.139131 1 0 AMZ2P1 201283 broad.mit.edu 37 17 62969059 62969059 + RNA SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:62969059G>A ENST00000430983.1 - 0 1290 NR_026903.1 TAATATGGAAGAACATTTAAA 0.323000 3 9 0 0 0.115264 0 0 FNIP1 96459 broad.mit.edu 37 5 131046318 131046318 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:131046318G>C ENST00000307954.8 - 6 552 c.524C>G c.(523-525)tCt>tGt p.S175C FNIP1_ENST00000510461.1_Missense_Mutation_p.S220C|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.S220C folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) ACCCTGCTCAGAGAATGCCCG 0.527000 14 12 0 0 0.175082 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26238281 26238281 + RNA SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:26238281C>T ENST00000519902.1 - 0 1667 GCCTGTTTTTCATCTTCATCT 0.413000 15 28 0 0 0.175082 0 0 KIRREL3 84623 broad.mit.edu 37 11 126294664 126294664 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:126294664G>T ENST00000525144.2 - 17 2397 c.2148C>A c.(2146-2148)ctC>ctA p.L716L KIRREL3_ENST00000416561.2_Silent_p.L183L|KIRREL3_ENST00000529097.2_Silent_p.L704L NM_032531.3 NP_115920.1 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 (Drosophila) 716 Ser-rich. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1) 29 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TGCTGTCGCTGAGGGAGCCTC 0.632000 11 27 2.27111e-07 2.35717e-07 0.093190 1 0 FGFR3 2261 broad.mit.edu 37 4 1803435 1803435 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1803435G>A ENST00000340107.4 + 6 960 c.704G>A c.(703-705)gGc>gAc p.G235D FGFR3_ENST00000440486.2_Missense_Mutation_p.G235D|FGFR3_ENST00000260795.2_Missense_Mutation_p.G235D|FGFR3_ENST00000412135.2_Missense_Mutation_p.G235D|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.G235D|FGFR3_ENST00000352904.1_Missense_Mutation_p.G235D NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 235 Ig-like C2-type 2. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) AACAAGTTTGGCAGCATCCGG 0.697000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 9 270 0 0 0.080935 0 0 ZNF846 162993 broad.mit.edu 37 19 9868950 9868950 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9868950C>A ENST00000397902.2 - 6 1216 c.803G>T c.(802-804)gGa>gTa p.G268V ZNF846_ENST00000588267.1_Missense_Mutation_p.G139V|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.G139V NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TAATTTAAGTCCTGTGGATTG 0.388000 28 40 9.65021e-13 1.0144e-12 0.153744 1 0 CNPPD1 27013 broad.mit.edu 37 2 220041503 220041503 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:220041503G>A ENST00000409789.1 - 2 475 c.48C>T c.(46-48)ctC>ctT p.L16L CNPPD1_ENST00000360507.5_Silent_p.L16L Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 16 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 GGAAGCCGGCGAGGGAGAAGG 0.711000 4 3 0 0 0.248553 0 0 ITGAX 3687 broad.mit.edu 37 16 31383090 31383090 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:31383090C>T ENST00000268296.4 + 17 2266 c.2145C>T c.(2143-2145)ttC>ttT p.F715F ITGAX_ENST00000562522.1_Silent_p.F715F NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 715 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GTGAAAACTTCAACCTGCTGC 0.647000 24 35 0 0 0.183431 0 0 HCAR1 27198 broad.mit.edu 37 12 123214482 123214482 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:123214482G>A ENST00000432564.1 - 1 647 c.405C>T c.(403-405)atC>atT p.I135I HCAR1_ENST00000436083.2_Silent_p.I135I|HCAR1_ENST00000356987.2_Silent_p.I135I NM_032554.3 NP_115943.1 Q9BXC0 HCAR1_HUMAN hydroxycarboxylic acid receptor 1 135 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 GGGTGCAGACGATGCCAGCCG 0.592000 63 60 0 0 0.139131 0 0 MFHAS1 9258 broad.mit.edu 37 8 8749555 8749555 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:8749555G>A ENST00000276282.6 - 1 1600 c.1014C>T c.(1012-1014)atC>atT p.I338I NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 338 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TCAGCTCCACGATGGAGTCCG 0.637000 63 79 0 0 0.139131 0 0 UBR5 51366 broad.mit.edu 37 8 103301750 103301750 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:103301750G>T ENST00000520539.1 - 35 5250 c.4644C>A c.(4642-4644)atC>atA p.I1548I UBR5_ENST00000521922.1_Silent_p.I1542I|UBR5_ENST00000220959.4_Silent_p.I1548I|UBR5_ENST00000519528.1_Intron NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1548 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) GTGACTGGCTGATGCGCCTCT 0.473000 14 157 9.7654e-05 0.000100299 0.189662 1 0 PREX1 57580 broad.mit.edu 37 20 47260976 47260976 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:47260976G>C ENST00000396220.1 - 27 3594 c.3572C>G c.(3571-3573)tCc>tGc p.S1191C PREX1_ENST00000371941.3_Missense_Mutation_p.S1191C Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1191 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCCCAAGTAGGAGCTGTTACT 0.562000 30 24 0 0 0.246493 0 0 KIAA1109 84162 broad.mit.edu 37 4 123141550 123141550 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:123141550G>C ENST00000264501.4 + 22 2911 c.2538G>C c.(2536-2538)atG>atC p.M846I KIAA1109_ENST00000455637.1_Missense_Mutation_p.M846I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M846I|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 846 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GTTTTGAAATGAAAAAAGGAT 0.393000 19 19 0 0 0.249174 0 0 TFAM 7019 broad.mit.edu 37 10 60148581 60148581 + Splice_Site SNP T T G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:60148581T>G ENST00000487519.1 + 4 967 c.e4+2 TFAM_ENST00000373899.3_Splice_Site|TFAM_ENST00000373895.3_Splice_Site NM_001270782.1|NM_003201.2 NP_001257711.1|NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AAAAAAAAAGTGAGTATCATT 0.269000 8 19 0 0 0.080935 0 0 GDF11 10220 broad.mit.edu 37 12 56137466 56137466 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:56137466C>G ENST00000257868.5 + 1 403 c.366C>G c.(364-366)gaC>gaG p.D122E NM_005811.3 NP_005802.1 O95390 GDF11_HUMAN growth differentiation factor 11 122 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 TCCAGGGCGACGCGCTGCAGC 0.667000 24 19 0 0 0.116897 0 0 ATG4D 84971 broad.mit.edu 37 19 10663612 10663612 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:10663612G>A ENST00000309469.4 + 10 1467 c.1294G>A c.(1294-1296)Gag>Aag p.E432K ATG4D_ENST00000540862.1_Missense_Mutation_p.E99K NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 432 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity p.E432K(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CACCCTGGCCGAGGGCCATGC 0.662000 79 90 0 0 0.139131 0 0 LAPTM4A 9741 broad.mit.edu 37 2 20240714 20240714 + Missense_Mutation SNP A A T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:20240714A>T ENST00000175091.4 - 2 677 c.170T>A c.(169-171)aTg>aAg p.M57K NM_014713.4 NP_055528.1 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 57 transport endomembrane system|Golgi apparatus|integral to membrane endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACAGCTGGCATGGAGTTTGG 0.373000 8 134 0 0 0.069234 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062585 76062585 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:76062585C>G ENST00000260045.3 - 5 1714 c.1609G>C c.(1609-1611)Gag>Cag p.E537Q NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 537 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 GTGGCTTCCTCAAACCAAAAT 0.428000 7 13 0 0 0.058154 0 0 KRT79 338785 broad.mit.edu 37 12 53227664 53227664 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:53227664G>C ENST00000330553.5 - 1 415 c.381C>G c.(379-381)ctC>ctG p.L127L NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 127 Head. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCTCCACATGGAGGGGGGTCA 0.602000 46 70 0 0 0.139131 0 0 DENND4A 10260 broad.mit.edu 37 15 65982875 65982875 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:65982875C>G ENST00000443035.3 - 23 4269 c.4054G>C c.(4054-4056)Gat>Cat p.D1352H DENND4A_ENST00000567323.1_5'UTR|DENND4A_ENST00000431932.2_Missense_Mutation_p.D1309H NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 AGTAGTGTATCTAAGTTAAAT 0.398000 23 32 0 0 0.153744 0 0 HTT 3064 broad.mit.edu 37 4 3241734 3241734 + Missense_Mutation SNP A A G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:3241734A>G ENST00000355072.5 + 67 9522 c.9377A>G c.(9376-9378)tAt>tGt p.Y3126C NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 3126 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGAAGCCCATATCACCGGCTG 0.602000 4 14 0 0 0.184627 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303448 151303448 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:151303448C>T ENST00000370323.4 - 4 961 c.645G>A c.(643-645)ctG>ctA p.L215L RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.L215L NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386 P43363 MAGAA_HUMAN melanoma antigen family A, 10 215 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGACATCACTCAGCATCCCAT 0.522000 49 8 0 0 0.139131 0 0 POLN 353497 broad.mit.edu 37 4 2130961 2130961 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:2130961C>G ENST00000511885.2 - 18 2165 c.1812G>C c.(1810-1812)acG>acC p.T604T POLN_ENST00000382865.1_Silent_p.T604T Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 604 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TCGGGGAGATCGTGAGAATCT 0.393000 DNA polymerases (catalytic subunits) 63 46 0 0 0.139131 0 0 ZNF43 7594 broad.mit.edu 37 19 21990730 21990730 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:21990730C>T ENST00000594012.1 - 7 2605 c.2091G>A c.(2089-2091)gaG>gaA p.E697E ZNF43_ENST00000595461.1_Silent_p.E697E|ZNF43_ENST00000598381.1_Silent_p.E697E|ZNF43_ENST00000354959.4_Silent_p.E703E NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 703 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TGTAGGGTTTCTCTCCAGTAT 0.363000 20 24 0 0 0.249174 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 5 71 0 0 0.080935 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367800 145367800 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:145367800G>A ENST00000342960.5 + 83 10431 c.10396G>A c.(10396-10398)Gat>Aat p.D3466N NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3466 p.D3466N(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) aggggaagaagaTCAAAACCC 0.428000 4 69 0 0 0.217242 0 0 RUVBL1 8607 broad.mit.edu 37 3 127842458 127842458 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:127842458G>A ENST00000322623.5 - 1 209 c.110C>T c.(109-111)tCa>tTa p.S37L RUVBL1_ENST00000417360.1_Missense_Mutation_p.S37L|RUVBL1_ENST00000464873.1_Intron NM_003707.2 NP_003698.1 Q9Y265 RUVB1_HUMAN RuvB-like AAA ATPase 1 37 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) CACAAGCCCTGAGGCCGCCTG 0.667000 22 17 0 0 0.091800 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29959767 29959767 + Splice_Site SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:29959767G>C ENST00000378993.1 + 9 1730 c.e9-1 IL1RAPL1_ENST00000302196.4_Splice_Site NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TTTCTTTCTAGAGCTAATGTA 0.368000 99 5 0 0 0.139131 0 0 KRT6C 286887 broad.mit.edu 37 12 52865237 52865237 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:52865237C>T ENST00000252250.6 - 4 927 c.880G>A c.(880-882)Gag>Aag p.E294K NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 294 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) AAGTTGATCTCATCTGTGAGA 0.488000 42 74 0 0 0.139131 0 0 CDCA7L 55536 broad.mit.edu 37 7 21947797 21947797 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:21947797G>A ENST00000406877.3 - 4 911 c.632C>T c.(631-633)tCa>tTa p.S211L CDCA7L_ENST00000373934.4_Missense_Mutation_p.S165L|CDCA7L_ENST00000356195.5_Missense_Mutation_p.S177L|CDCA7L_ENST00000465490.1_5'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 211 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 CAAAGCATCTGAACTCTCCTG 0.498000 10 10 0 0 0.069234 0 0 USHBP1 83878 broad.mit.edu 37 19 17362467 17362467 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:17362467C>T ENST00000252597.3 - 12 2019 c.1846G>A c.(1846-1848)Gaa>Aaa p.E616K USHBP1_ENST00000431146.2_Missense_Mutation_p.E552K|AC010646.3_ENST00000594059.1_5'UTR NM_031941.3 NP_114147.2 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 616 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 GCCACCTGTTCCAGCTCCCTG 0.607000 46 82 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 9083056 9083056 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9083056G>A ENST00000397910.4 - 1 8962 c.8759C>T c.(8758-8760)tCa>tTa p.S2920L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2921 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTTGCATCTGAGTCTGGAAT 0.463000 22 17 0 0 0.083992 0 0 SENP7 57337 broad.mit.edu 37 3 101060619 101060619 + Nonsense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:101060619G>C ENST00000394095.2 - 15 2164 c.2111C>G c.(2110-2112)tCa>tGa p.S704* SENP7_ENST00000348610.3_Nonsense_Mutation_p.S671*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.S639*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.S638*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.S540*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.S540* NM_001282802.1|NM_020654.3 NP_001269731.1|NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 704 proteolysis nucleus cysteine-type peptidase activity p.S704L(1)|p.S638L(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ATCTGTGTTTGAGGGCTGACA 0.418000 14 22 0 0 0.189662 0 0 DIP2B 57609 broad.mit.edu 37 12 51072628 51072628 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:51072628G>A ENST00000301180.5 + 8 1117 c.1083G>A c.(1081-1083)atG>atA p.M361I NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 361 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CACTGGACATGACAGGGAAAC 0.468000 30 56 0 0 0.225048 0 0 AMOTL1 154810 broad.mit.edu 37 11 94533413 94533413 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:94533413C>T ENST00000433060.2 + 3 1198 c.1057C>T c.(1057-1059)Cag>Tag p.Q353* AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.Q303*|AMOTL1_ENST00000317837.9_Nonsense_Mutation_p.Q353* NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 353 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CCCTGCTCCTCAGCCTGTGAG 0.567000 54 99 0 0 0.139131 0 0 SNED1 25992 broad.mit.edu 37 2 241992606 241992606 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:241992606C>A ENST00000310397.8 + 16 2120 c.2120C>A c.(2119-2121)gCc>gAc p.A707D AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.A707D|SNED1_ENST00000405547.3_Missense_Mutation_p.A707D|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Missense_Mutation_p.A707D NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 707 Sushi. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GTGAAGCACGCCACACTGCGC 0.711000 5 13 0.0381472 0.0387765 0.038147 1 0 NTM 50863 broad.mit.edu 37 11 132184470 132184470 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:132184470G>A ENST00000374786.1 + 6 1286 c.807G>A c.(805-807)gtG>gtA p.V269V NTM_ENST00000427481.2_Silent_p.V260V|NTM_ENST00000374791.3_Silent_p.V269V|NTM_ENST00000374784.1_Silent_p.V269V|NTM_ENST00000539799.1_Silent_p.V269V|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Silent_p.V269V NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 269 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 AGAAAGGGGTGAAAGTGGAAA 0.433000 3 22 0 0 0.115264 0 0 PVRL2 5819 broad.mit.edu 37 19 45375398 45375398 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:45375398C>G ENST00000252483.5 + 3 767 c.767C>G c.(766-768)tCt>tGt p.S256C PVRL2_ENST00000252485.4_Missense_Mutation_p.S256C NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 256 Ig-like C2-type 1. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) GTGACCCTCTCTGTACGCTGT 0.547000 65 67 0 0 0.139131 0 0 LYZL6 57151 broad.mit.edu 37 17 34261801 34261801 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:34261801C>T ENST00000585556.1 - 5 780 c.446G>A c.(445-447)tGa>tAa p.*149* LYZL6_ENST00000394523.3_Silent_p.*149*|LYZL6_ENST00000293274.4_Silent_p.*149* O75951 LYZL6_HUMAN lysozyme-like 6 0 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CACCCTGTTTCATCTCAGGCG 0.512000 40 53 0 0 0.139131 0 0 IFT46 56912 broad.mit.edu 37 11 118416128 118416128 + Nonsense_Mutation SNP G G C rs45508996 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:118416128G>C ENST00000264020.2 - 12 1345 c.968C>G c.(967-969)tCa>tGa p.S323* IFT46_ENST00000264021.3_Nonsense_Mutation_p.S272*|TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000530872.1_Intron|TMEM25_ENST00000442938.2_Intron NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 272 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 GCTCACCTGTGAGTTCTTGAA 0.458000 56 47 0 0 0.139131 0 0 FTSJ2 29960 broad.mit.edu 37 7 2278827 2278827 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:2278827C>G ENST00000407040.1 - 1 52 c.5G>C c.(4-6)aGa>aCa p.R2T FTSJ2_ENST00000486040.1_Intron|FTSJ2_ENST00000242257.8_Intron|FTSJ2_ENST00000440306.2_Intron Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 0 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) TGCGGGCGGTCTCATGCGAGG 0.468000 53 64 0 0 0.139131 0 0 DNAH3 55567 broad.mit.edu 37 16 20990840 20990840 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:20990840C>G ENST00000261383.3 - 50 7887 c.7888G>C c.(7888-7890)Gag>Cag p.E2630Q DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2630 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTGACGCTCTCTTGGAAATAT 0.463000 42 51 0 0 0.139131 0 0 IQGAP1 8826 broad.mit.edu 37 15 91025471 91025471 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:91025471G>A ENST00000268182.5 + 28 3637 c.3513G>A c.(3511-3513)ttG>ttA p.L1171L IQGAP1_ENST00000560738.1_Silent_p.L599L NM_003870.3 NP_003861.1 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1171 C1.|Ras-GAP. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AGGACTCGTTGCATGAGAAGT 0.502000 OREG0023473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 65 0 0 0.139131 0 0 LDB3 11155 broad.mit.edu 37 10 88446870 88446870 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:88446870C>T ENST00000429277.2 + 6 879 c.734C>T c.(733-735)tCg>tTg p.S245L LDB3_ENST00000372066.3_Missense_Mutation_p.S130L|LDB3_ENST00000372056.4_Missense_Mutation_p.S245L|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000263066.6_Missense_Mutation_p.S130L|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Missense_Mutation_p.S130L|LDB3_ENST00000310944.6_Intron NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 237 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 CTGAAGGACTCGGCCCTGTCC 0.637000 75 208 0 0 0.139131 0 0 ANKRD40 91369 broad.mit.edu 37 17 48784970 48784970 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:48784970C>T ENST00000285243.6 - 1 315 c.46G>A c.(46-48)Gag>Aag p.E16K NM_052855.3 NP_443087.1 Q6AI12 ANR40_HUMAN ankyrin repeat domain 40 16 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(22;2.03e-09) GCCGCGGCCTCCCGCAGCCTC 0.682000 65 114 0 0 0.139131 0 0 APPL2 55198 broad.mit.edu 37 12 105582222 105582222 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:105582222G>T ENST00000258530.3 - 17 1688 c.1463C>A c.(1462-1464)tCt>tAt p.S488Y APPL2_ENST00000539978.2_Missense_Mutation_p.S445Y|APPL2_ENST00000551662.1_Missense_Mutation_p.S494Y 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 2 488 PID. 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 CTGCAAAAGAGAATCTGGAAG 0.418000 17 20 2.37509e-13 2.50732e-13 0.219247 1 0 ZFP64 55734 broad.mit.edu 37 20 50769825 50769825 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:50769825G>C ENST00000216923.4 - 6 1255 c.906C>G c.(904-906)ctC>ctG p.L302L ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.L300L|ZFP64_ENST00000346617.4_Silent_p.L248L NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TGTGCGACTTGAGGTTCCCCT 0.557000 45 147 0 0 0.139131 0 0 C1S 716 broad.mit.edu 37 12 7177945 7177945 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:7177945G>A ENST00000406697.1 + 15 2685 c.2057G>A c.(2056-2058)cGt>cAt p.R686H C1S_ENST00000360817.5_Missense_Mutation_p.R686H|C1S_ENST00000328916.3_Missense_Mutation_p.R686H|C1S_ENST00000402681.3_Missense_Mutation_p.R519H P09871 C1S_HUMAN complement component 1, s subcomponent 686 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity p.R686H(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) AGCACCCCCCGTGAGGACTAA 0.483000 45 71 0 0 0.139131 0 0 FAM105B 90268 broad.mit.edu 37 5 14690313 14690313 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:14690313C>T ENST00000284274.4 + 6 838 c.760C>T c.(760-762)Cca>Tca p.P254S NM_138348.4 NP_612357.4 Q96BN8 F105B_HUMAN family with sequence similarity 105, member B 254 breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 14 Lung NSC(4;0.00696) AAAGGAAGTACCATTTTTCTC 0.428000 28 20 0 0 0.125774 0 0 INTS12 57117 broad.mit.edu 37 4 106603932 106603932 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:106603932C>T ENST00000451321.2 - 7 1826 c.1347G>A c.(1345-1347)caG>caA p.Q449Q INTS12_ENST00000340139.5_Silent_p.Q449Q|INTS12_ENST00000394735.1_Silent_p.Q449Q NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 449 snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) TCTTGACCATCTGTAATCGCT 0.408000 67 110 0 0 0.139131 0 0 MYCBP2 23077 broad.mit.edu 37 13 77667465 77667465 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:77667465T>C ENST00000407578.2 - 59 10468 c.10202A>G c.(10201-10203)cAt>cGt p.H3401R MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H3363R|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H3363R NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTCATGATGATGCCTGCATTA 0.358000 7 127 0 0 0.248553 0 0 OIP5 11339 broad.mit.edu 37 15 41624731 41624731 + Nonsense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:41624731G>C ENST00000220514.3 - 1 88 c.29C>G c.(28-30)tCa>tGa p.S10* NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 10 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) TGCACAACGTGAGCGATGCCG 0.637000 59 62 0 0 0.139131 0 0 NLRP2 55655 broad.mit.edu 37 19 55494122 55494122 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:55494122C>G ENST00000543010.1 + 6 1199 c.1056C>G c.(1054-1056)atC>atG p.I352M NLRP2_ENST00000263437.6_Missense_Mutation_p.I349M|NLRP2_ENST00000339757.7_Missense_Mutation_p.I330M|NLRP2_ENST00000427260.2_Missense_Mutation_p.I329M|NLRP2_ENST00000391721.4_Missense_Mutation_p.I328M|NLRP2_ENST00000448584.2_Missense_Mutation_p.I352M|NLRP2_ENST00000538819.1_Missense_Mutation_p.I328M|NLRP2_ENST00000537859.1_Missense_Mutation_p.I330M NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 352 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGGAGCCGATCTACATAAGGG 0.607000 10 13 0 0 0.080935 0 0 SREBF2 6721 broad.mit.edu 37 22 42280950 42280950 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:42280950G>C ENST00000361204.4 + 11 2309 c.2143G>C c.(2143-2145)Gag>Cag p.E715Q NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 715 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CACACTGGTTGAGATCCATCT 0.587000 41 56 0 0 0.139131 0 0 CEACAM8 1088 broad.mit.edu 37 19 43097727 43097727 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:43097727C>A ENST00000244336.5 - 2 491 c.390G>T c.(388-390)atG>atT p.M130I CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 130 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CTTCTTCACTCATAAGATTTA 0.473000 43 85 1.22674e-20 1.31475e-20 0.268233 1 0 CELF5 60680 broad.mit.edu 37 19 3275921 3275921 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:3275921C>G ENST00000541430.2 + 4 498 c.462C>G c.(460-462)ttC>ttG p.F154L CELF5_ENST00000292672.2_Missense_Mutation_p.F154L NM_001172673.1 NP_001166144.1 Q8N6W0 CELF5_HUMAN CUGBP, Elav-like family member 5 154 RRM 2. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1) 13 TGCGGCTGTTCCAGCCCTTCG 0.697000 37 27 0 0 0.139131 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260398 44260398 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:44260398C>T ENST00000315087.7 - 7 1398 c.738G>A c.(736-738)ctG>ctA p.L246L ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.L282L|ST8SIA5_ENST00000536490.1_Silent_p.L215L NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 246 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 AGAAGGCAGGCAGCAGCACCG 0.607000 7 15 0 0 0.038147 0 0 PHKA1 5255 broad.mit.edu 37 X 71843049 71843049 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:71843049C>T ENST00000373545.3 - 18 2308 c.1870G>A c.(1870-1872)Gag>Aag p.E624K PHKA1_ENST00000373539.3_Missense_Mutation_p.E624K|PHKA1_ENST00000541944.1_Missense_Mutation_p.E624K|PHKA1_ENST00000339490.3_Missense_Mutation_p.E624K|PHKA1_ENST00000373542.4_Missense_Mutation_p.E624K P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 624 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) AGCTTACCCTCAGGTCCAGGG 0.408000 38 1 0 0 0.268233 0 0 ZNF224 7767 broad.mit.edu 37 19 44612276 44612276 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:44612276G>A ENST00000336976.6 + 6 2217 c.1963G>A c.(1963-1965)Gag>Aag p.E655K AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 655 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) ATACAAATGTGAGGACTGTGG 0.433000 36 59 0 0 0.131918 0 0 CYP1B1 1545 broad.mit.edu 37 2 38298398 38298398 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:38298398C>A ENST00000260630.3 - 3 1500 c.1099G>T c.(1099-1101)Gac>Tac p.D367Y CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.D367Y NM_000104.3 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 367 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) GGCAGACGGTCCCTCCCCACG 0.517000 35 22 3.4345e-17 3.64915e-17 0.124865 1 0 GTSF1L 149699 broad.mit.edu 37 20 42354926 42354926 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:42354926C>G ENST00000373003.1 - 1 712 c.409G>C c.(409-411)Gag>Cag p.E137Q GTSF1L_ENST00000373005.2_Missense_Mutation_p.E112Q NM_001008901.1|NM_176791.3 NP_001008901.1|NP_789761.1 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like 137 metal ion binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGACTGGTCTCTCTTGCTGAC 0.473000 67 39 0 0 0.139131 0 0 GIT1 28964 broad.mit.edu 37 17 27903633 27903633 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:27903633C>T ENST00000225394.3 - 13 1535 c.1287G>A c.(1285-1287)ctG>ctA p.L429L GIT1_ENST00000581348.1_Silent_p.L438L|GIT1_ENST00000394869.3_Silent_p.L438L|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Silent_p.L429L NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 429 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GGGCCTTCTTCAGCTCCAGGT 0.617000 25 30 0 0 0.108266 0 0 GRM5 2915 broad.mit.edu 37 11 88780766 88780766 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:88780766C>T ENST00000418177.2 - 2 642 c.275G>A c.(274-276)gGc>gAc p.G92D GRM5_ENST00000305447.4_Missense_Mutation_p.G92D|GRM5_ENST00000393297.1_Missense_Mutation_p.G92D|GRM5_ENST00000393294.3_Missense_Mutation_p.G92D|GRM5_ENST00000305432.5_Missense_Mutation_p.G92D|GRM5_ENST00000455756.2_Missense_Mutation_p.G92D P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 92 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TATCTCACAGCCCAGTGTGAT 0.522000 10 16 0 0 0.132662 0 0 TENM1 10178 broad.mit.edu 37 X 124097480 124097480 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:124097480G>A ENST00000422452.2 - 1 186 c.123C>T c.(121-123)aaC>aaT p.N41N TENM1_ENST00000371130.3_Silent_p.N41N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCTCCCTGGAGTTGTATGACT 0.428000 55 77 0 0 0.139131 0 0 N4BP2 55728 broad.mit.edu 37 4 40122276 40122276 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:40122276G>C ENST00000261435.6 + 9 2961 c.2545G>C c.(2545-2547)Gag>Cag p.E849Q NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 849 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TGAAAGTGTAGAGGATGGCAG 0.358000 36 45 0 0 0.268233 0 0 ACOX3 8310 broad.mit.edu 37 4 8396454 8396454 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:8396454G>A ENST00000356406.5 - 10 1149 c.1072C>T c.(1072-1074)Cca>Tca p.P358S ACOX3_ENST00000413009.2_Missense_Mutation_p.P358S|ACOX3_ENST00000503233.1_Missense_Mutation_p.P358S NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 358 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 GCCAGATATGGAAGCAAGCGC 0.577000 13 139 0 0 0.119110 0 0 GDAP1 54332 broad.mit.edu 37 8 75272520 75272520 + Silent SNP G G T rs149804782 byFrequency TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:75272520G>T ENST00000220822.7 + 3 539 c.459G>T c.(457-459)ccG>ccT p.P153P GDAP1_ENST00000434412.2_Silent_p.P85P|GDAP1_ENST00000521096.1_3'UTR NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 153 GST C-terminal. cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) CCATGATCCCGGCTTATGCAA 0.418000 42 61 3.50607e-19 3.74944e-19 0.139131 1 0 GSAP 54103 broad.mit.edu 37 7 77011907 77011907 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:77011907C>T ENST00000257626.7 - 7 588 c.510G>A c.(508-510)ctG>ctA p.L170L NM_017439.3 NP_059135.2 gamma-secretase activating protein CTTCTGAAATCAGTAACAGAT 0.343000 13 31 0 0 0.189662 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062117 76062117 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:76062117C>G ENST00000260045.3 - 5 2182 c.2077G>C c.(2077-2079)Gag>Cag p.E693Q NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 693 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CGCTCATTCTCAACCTTCATC 0.418000 34 20 0 0 0.268233 0 0 EXPH5 23086 broad.mit.edu 37 11 108383904 108383904 + Missense_Mutation SNP T T A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:108383904T>A ENST00000265843.4 - 6 2440 c.2330A>T c.(2329-2331)gAt>gTt p.D777V EXPH5_ENST00000428840.1_Missense_Mutation_p.D701V|EXPH5_ENST00000443411.1_Missense_Mutation_p.D589V|EXPH5_ENST00000525344.1_Missense_Mutation_p.D770V NM_015065.2 NP_055880 Q149M6 Q149M6_HUMAN exophilin 5 777 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTTGGAGGTATCTTTCCTGGA 0.388000 34 52 0 0 0.139131 0 0 GALK1 2584 broad.mit.edu 37 17 73759154 73759154 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:73759154G>A ENST00000588479.1 - 4 1126 c.552C>T c.(550-552)atC>atT p.I184I GALK1_ENST00000225614.2_Silent_p.I184I|GALK1_ENST00000437911.1_Silent_p.I214I P51570 GALK1_HUMAN galactokinase 1 184 I -> M. galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 5 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACTGGTCCATGATGCCACAGG 0.632000 42 64 0 0 0.139131 0 0 SLC12A6 9990 broad.mit.edu 37 15 34544565 34544565 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:34544565C>T ENST00000354181.3 - 10 1631 c.1139G>A c.(1138-1140)cGc>cAc p.R380H SLC12A6_ENST00000560164.1_Missense_Mutation_p.R192H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R380H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R380H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R321H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R329H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R365H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R371H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R321H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R192H Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 380 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TGAAAGGGTGCGGTTACCCAG 0.383000 23 40 0 0 0.125774 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222358 140222358 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:140222358G>A ENST00000531613.1 + 1 1452 c.1452G>A c.(1450-1452)gcG>gcA p.A484A PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.A484A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCGGACGCGCAGGAGAACG 0.657000 44 69 0 0 0.139131 0 0 HERC1 8925 broad.mit.edu 37 15 64048748 64048748 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:64048748G>A ENST00000443617.2 - 5 1508 c.1421C>T c.(1420-1422)aCg>aTg p.T474M NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 474 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TCCTTCTGTCGTAAAGGCTAA 0.393000 31 29 0 0 0.163468 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 20 9 0 0 0.116897 0 0 RSPH10B 222967 broad.mit.edu 37 7 5967926 5967926 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:5967926T>C ENST00000405415.1 - 19 2719 c.2333A>G c.(2332-2334)aAa>aGa p.K778R RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.K778R|RSPH10B_ENST00000337579.3_Missense_Mutation_p.K778R|RSPH10B_ENST00000441023.2_Missense_Mutation_p.K778R B2RC85 R10B2_HUMAN radial spoke head 10 homolog B (Chlamydomonas) 778 breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4) 11 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974) TTCTTCACGTTTATACGCATG 0.463000 28 177 0 0 0.139131 0 0 MED1 5469 broad.mit.edu 37 17 37564544 37564544 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:37564544C>T ENST00000300651.6 - 17 4153 c.3930G>A c.(3928-3930)ctG>ctA p.L1310L MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1310 Interaction with TP53.|Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CCCCATGCTTCAGTTTATCTA 0.522000 HNSCC(31;0.082) 44 61 0 0 0.139131 0 0 FSTL5 56884 broad.mit.edu 37 4 163032430 163032430 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:163032430C>T ENST00000306100.5 - 2 555 c.119G>A c.(118-120)cGa>cAa p.R40Q FSTL5_ENST00000427802.2_Missense_Mutation_p.R40Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.R40Q|FSTL5_ENST00000536695.1_Missense_Mutation_p.R40Q NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 40 extracellular region calcium ion binding p.R40Q(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TACCTTATGTCGCAATCTCAT 0.393000 12 176 0 0 0.160694 0 0 PTPN9 5780 broad.mit.edu 37 15 75798201 75798201 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:75798201G>A ENST00000306726.2 - 7 1295 c.783C>T c.(781-783)ttC>ttT p.F261F NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 261 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGATCTCATCGAAGGGATCTG 0.527000 23 46 0 0 0.108266 0 0 KIAA1009 22832 broad.mit.edu 37 6 84872884 84872884 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:84872884C>T ENST00000403245.3 - 19 2605 c.2491G>A c.(2491-2493)Gat>Aat p.D831N KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.D755N NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 831 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) GCAATCTGATCTTTGGCTTGG 0.333000 25 79 0 0 0.125774 0 0 SNAPC2 6618 broad.mit.edu 37 19 7986331 7986331 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:7986331C>G ENST00000221573.6 + 2 258 c.207C>G c.(205-207)ctC>ctG p.L69L SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 69 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 TCCAGCAGCTCAAGGGCCGCG 0.622000 27 38 0 0 0.193644 0 0 FAM13A 10144 broad.mit.edu 37 4 89671699 89671699 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:89671699G>A ENST00000264344.5 - 15 2023 c.1816C>T c.(1816-1818)Cag>Tag p.Q606* FAM13A_ENST00000508369.1_Nonsense_Mutation_p.Q280*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.Q280*|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.Q266*|FAM13A_ENST00000513837.1_Nonsense_Mutation_p.Q252*|FAM13A_ENST00000511976.1_Nonsense_Mutation_p.Q192* NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 606 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 TCCAGCAGCTGACGGATCAGG 0.592000 25 46 0 0 0.091800 0 0 KRT20 54474 broad.mit.edu 37 17 39041067 39041067 + Missense_Mutation SNP A A G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:39041067A>G ENST00000167588.3 - 1 412 c.371T>C c.(370-372)aTt>aCt p.I124T NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 124 Coil 1B.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) CAGCTCTTCAATTTGTCTGTA 0.458000 38 58 0 0 0.139131 0 0 FBXO21 23014 broad.mit.edu 37 12 117595695 117595695 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:117595695G>A ENST00000427718.2 - 10 1574 c.1500C>T c.(1498-1500)ctC>ctT p.L500L FBXO21_ENST00000330622.5_Silent_p.L507L NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 507 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GCTTCATAATGAGCCCGATGG 0.562000 51 65 0 0 0.139131 0 0 TRPC4 7223 broad.mit.edu 37 13 38225530 38225530 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:38225530C>A ENST00000379705.3 - 8 2808 c.1951G>T c.(1951-1953)Ggt>Tgt p.G651C TRPC4_ENST00000379679.1_Missense_Mutation_p.G478C|TRPC4_ENST00000358477.2_Missense_Mutation_p.G651C|TRPC4_ENST00000338947.5_Missense_Mutation_p.G478C|TRPC4_ENST00000447043.1_Missense_Mutation_p.G651C|TRPC4_ENST00000355779.2_Missense_Mutation_p.G651C|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.G651C Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 651 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GGCAGAGTACCTCCTTCTTCA 0.433000 60 47 3.13765e-25 3.40719e-25 0.139131 1 0 ZFR 51663 broad.mit.edu 37 5 32364311 32364311 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:32364311C>G ENST00000265069.8 - 18 3008 c.2906G>C c.(2905-2907)aGa>aCa p.R969T ZFR_ENST00000510369.1_5'UTR NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 969 DZF. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AAAAACTCTTCTCAGTGCATC 0.353000 51 45 0 0 0.139131 0 0 POLN 353497 broad.mit.edu 37 4 2130975 2130975 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:2130975C>T ENST00000511885.2 - 18 2151 c.1798G>A c.(1798-1800)Gac>Aac p.D600N POLN_ENST00000382865.1_Missense_Mutation_p.D600N Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 600 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) AGAATCTTGTCTTCTTTACCT 0.378000 DNA polymerases (catalytic subunits) 40 38 0 0 0.139131 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102980483 102980483 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:102980483C>G ENST00000375735.2 + 1 324 c.180C>G c.(178-180)atC>atG p.I60M DYNC2H1_ENST00000334267.7_Missense_Mutation_p.I60M|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I60M NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 60 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ACGCAGGAATCTCCTTTTCCA 0.557000 27 21 0 0 0.163468 0 0 KIAA1468 57614 broad.mit.edu 37 18 59954630 59954630 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:59954630G>A ENST00000256858.6 + 27 3650 c.3402G>A c.(3400-3402)caG>caA p.Q1134Q KIAA1468_ENST00000398130.2_Silent_p.Q1100Q Q9P260 K1468_HUMAN KIAA1468 1100 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) ACAACTTACAGATTGTGGATT 0.348000 39 24 0 0 0.124865 0 0 BBOX1 8424 broad.mit.edu 37 11 27077157 27077157 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:27077157G>A ENST00000263182.3 + 3 548 c.180G>A c.(178-180)gtG>gtA p.V60V RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Silent_p.V60V|BBOX1_ENST00000529202.1_Silent_p.V60V|BBOX1_ENST00000528583.1_Silent_p.V60V|BBOX1_ENST00000527505.1_3'UTR NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 60 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) CTCTTGATGTGAACATTGGAA 0.408000 9 12 0 0 0.080935 0 0 C11orf57 55216 broad.mit.edu 37 11 111946331 111946331 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:111946331G>T ENST00000280352.9 + 2 669 c.33G>T c.(31-33)ctG>ctT p.L11L C11orf57_ENST00000530104.1_Silent_p.L11L|C11orf57_ENST00000420986.2_Silent_p.L11L|C11orf57_ENST00000532163.1_5'UTR|C11orf57_ENST00000393047.3_Silent_p.L11L NM_001082970.1|NM_018195.3 NP_001076439.1|NP_060665.3 Q6ZUT1 CK057_HUMAN chromosome 11 open reading frame 57 11 autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521) AGGTCCTCCTGAGGAATGTCA 0.413000 22 25 6.07407e-21 6.52401e-21 0.125774 1 0 OGDH 4967 broad.mit.edu 37 7 44664045 44664045 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:44664045C>T ENST00000222673.5 + 2 145 c.103C>T c.(103-105)Caa>Taa p.Q35* OGDH_ENST00000447398.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000449767.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000439616.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000443864.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.Q35* NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 35 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.Q35K(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TAGGACATTTCAACAGATTCG 0.468000 101 124 0 0 0.139131 0 0 TEX11 56159 broad.mit.edu 37 X 70099855 70099855 + Nonsense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:70099855C>A ENST00000395889.2 - 4 342 c.187G>T c.(187-189)Gaa>Taa p.E63* TEX11_ENST00000344304.3_Nonsense_Mutation_p.E63*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.E48* NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 63 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCTGTTATTTCAGCCATAGAC 0.313000 10 20 9.31168e-06 9.58384e-06 0.105934 1 0 NCOA2 10499 broad.mit.edu 37 8 71068649 71068649 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:71068649G>A ENST00000452400.2 - 11 2132 c.1951C>T c.(1951-1953)Cag>Tag p.Q651* NCOA2_ENST00000524223.1_5'UTR NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 651 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GGCTCCATCTGATCAGATTTG 0.567000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 48 85 0 0 0.139131 0 0 STAT5B 6777 broad.mit.edu 37 17 40370258 40370258 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:40370258C>T ENST00000293328.3 - 9 1248 c.1080G>A c.(1078-1080)ctG>ctA p.L360L NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 360 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TGTGCACGTTCAGCTTCCCGC 0.577000 5 105 0 0 0.184627 0 0 C16orf98 100652740 broad.mit.edu 37 16 31214087 31214087 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:31214087G>A ENST00000561916.2 + 2 409 c.313G>A c.(313-315)Gga>Aga p.G105R PYCARD_ENST00000247470.9_5'UTR chromosome 16 open reading frame 98 GCTCCGGGGCGGAACCTGGAC 0.721000 2 2 0 0 0.115264 0 0 SLC15A3 51296 broad.mit.edu 37 11 60718900 60718900 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:60718900C>T ENST00000227880.3 - 1 357 c.124G>A c.(124-126)Gag>Aag p.E42K NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 42 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 TCCAGCATCTCCACCAGCAGC 0.756000 3 7 0 0 0.150653 0 0 GLT8D1 55830 broad.mit.edu 37 3 52730304 52730304 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:52730304G>A ENST00000407584.3 - 7 1328 c.478C>T c.(478-480)Ctg>Ttg p.L160L GLT8D1_ENST00000394783.3_Silent_p.L160L|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000478968.2_Silent_p.L160L|GLT8D1_ENST00000266014.5_Silent_p.L160L|GLT8D1_ENST00000491606.1_Silent_p.L160L NM_001010983.1|NM_001278280.1 NP_001010983.1|NP_001265209.1 Q68CQ7 GL8D1_HUMAN glycosyltransferase 8 domain containing 1 160 integral to membrane|mitochondrion transferase activity, transferring glycosyl groups breast(1)|endometrium(1)|kidney(3)|large_intestine(3) 8 BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CTGGGAACCAGAATTGGCAAG 0.418000 3 61 0 0 0.150653 0 0 AZI1 22994 broad.mit.edu 37 17 79170817 79170817 + Silent SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:79170817C>A ENST00000269392.4 - 14 1942 c.1695G>T c.(1693-1695)ctG>ctT p.L565L AZI1_ENST00000450824.2_Silent_p.L562L|AZI1_ENST00000575907.1_Silent_p.L565L|AZI1_ENST00000374782.3_Silent_p.L562L NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 565 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCTCGGACCCCAGCTCCAGGG 0.692000 7 6 3.09899e-07 3.20966e-07 0.047766 1 0 BIRC3 330 broad.mit.edu 37 11 102195686 102195686 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:102195686G>C ENST00000263464.3 + 2 3196 c.446G>C c.(445-447)aGa>aCa p.R149T BIRC3_ENST00000532808.1_Missense_Mutation_p.R149T NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 149 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) GTAAACTCCAGAGCAAATCAA 0.393000 T MALT1 MALT 41 73 0 0 0.139131 0 0 FAM83B 222584 broad.mit.edu 37 6 54735420 54735420 + Missense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:54735420C>A ENST00000306858.7 + 2 492 c.376C>A c.(376-378)Cat>Aat p.H126N NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 126 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCTCCTTTTTCATCCACCAAG 0.398000 16 35 5.03518e-11 5.28159e-11 0.189662 1 0 MYO1H 283446 broad.mit.edu 37 12 109872912 109872912 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:109872912C>T ENST00000310903.5 + 21 2192 c.2086C>T c.(2086-2088)Caa>Taa p.Q696* MYO1H_ENST00000431443.2_Nonsense_Mutation_p.Q706* B4DNW6 B4DNW6_HUMAN myosin IH 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TAGTAAACATCAACTAGGTAT 0.343000 10 18 0 0 0.093190 0 0 CCDC140 151278 broad.mit.edu 37 2 223169071 223169071 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:223169071G>C ENST00000295226.1 + 2 834 c.450G>C c.(448-450)aaG>aaC p.K150N NM_153038.1 NP_694583.1 Q96MF4 CC140_HUMAN coiled-coil domain containing 140 150 endometrium(4)|large_intestine(1)|prostate(1) 6 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) aagagagaaagagaagaaaag 0.473000 5 2 0 0 0.184627 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968353 64968353 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:64968353G>A ENST00000399262.2 - 10 3294 c.3076C>T c.(3076-3078)Ctt>Ttt p.L1026F JMJD1C_ENST00000542921.1_Missense_Mutation_p.L844F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L807F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L807F NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1026 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding p.L1026F(1)|p.L807F(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) CTTTCTTGAAGAATTCGACGG 0.423000 31 69 0 0 0.163468 0 0 SACS 26278 broad.mit.edu 37 13 23909330 23909330 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:23909330G>A ENST00000382298.3 - 10 9273 c.8685C>T c.(8683-8685)aaC>aaT p.N2895N SACS_ENST00000382292.3_Silent_p.N2895N|SACS_ENST00000402364.1_Silent_p.N2145N NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2895 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CACGCCACAGGTTCCTTCTGG 0.433000 35 28 0 0 0.235728 0 0 KCNC1 3746 broad.mit.edu 37 11 17757753 17757753 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:17757753G>A ENST00000379472.3 + 1 234 c.204G>A c.(202-204)ctG>ctA p.L68L KCNC1_ENST00000265969.6_Silent_p.L68L NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 68 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 CGCACATCCTGAACTACTACC 0.672000 24 33 0 0 0.099896 0 0 PCNT 5116 broad.mit.edu 37 21 47855826 47855826 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:47855826G>A ENST00000359568.5 + 39 8868 c.8761G>A c.(8761-8763)Gaa>Aaa p.E2921K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2921 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCGAGAATTAGAACTGCAGCG 0.527000 20 38 0 0 0.234183 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179358588 179358588 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:179358588G>A ENST00000234453.5 + 4 724 c.322G>A c.(322-324)Gaa>Aaa p.E108K PLEKHA3_ENST00000461474.1_3'UTR NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 cytoplasm|membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) AGAAATAAGTGAAACCAGTGA 0.308000 6 24 0 0 0.047766 0 0 NOS3 4846 broad.mit.edu 37 7 150693932 150693932 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:150693932G>C ENST00000297494.3 + 5 858 c.501G>C c.(499-501)gaG>gaC p.E167D NOS3_ENST00000467517.1_Missense_Mutation_p.E167D|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000484524.1_Missense_Mutation_p.E167D NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 167 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) AGCTTAGGGAGAGCGAGCTGG 0.692000 7 11 0 0 0.058154 0 0 C9 735 broad.mit.edu 37 5 39311467 39311467 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:39311467G>C ENST00000263408.4 - 7 978 c.883C>G c.(883-885)Ctg>Gtg p.L295V NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 295 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTCACATGCAGAAACATTTTT 0.348000 27 15 0 0 0.153744 0 0 URGCP 55665 broad.mit.edu 37 7 43916794 43916794 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:43916794C>G ENST00000336086.6 - 4 4375 c.2139G>C c.(2137-2139)ttG>ttC p.L713F URGCP_ENST00000443736.1_Missense_Mutation_p.L713F|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.L713F|URGCP_ENST00000223341.7_Missense_Mutation_p.L713F|URGCP_ENST00000453200.1_Missense_Mutation_p.L756F|URGCP_ENST00000402306.3_Missense_Mutation_p.L747F Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 756 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCCCACCTATCAAGCCCCCGG 0.597000 19 21 0 0 0.234183 0 0 CEACAM8 1088 broad.mit.edu 37 19 43097723 43097723 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:43097723C>T ENST00000244336.5 - 2 495 c.394G>A c.(394-396)Gaa>Aaa p.E132K CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 132 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) GTTACTTCTTCACTCATAAGA 0.483000 39 80 0 0 0.235728 0 0 DGKA 1606 broad.mit.edu 37 12 56345848 56345848 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:56345848C>T ENST00000331886.5 + 19 2071 c.1617C>T c.(1615-1617)atC>atT p.I539I DGKA_ENST00000551156.1_Silent_p.I539I|DGKA_ENST00000394147.1_Silent_p.I539I|DGKA_ENST00000549079.2_3'UTR NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 539 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) GATTCCACATCATGCGAGAGA 0.522000 73 53 0 0 0.139131 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 93 0 0 0.150653 0 0 SLK 9748 broad.mit.edu 37 10 105763061 105763061 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:105763061C>G ENST00000369755.3 + 9 2670 c.2125C>G c.(2125-2127)Cta>Gta p.L709V SLK_ENST00000335753.4_Missense_Mutation_p.L709V NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 709 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TCAGCCTGTTCTAATACCCAG 0.353000 30 20 0 0 0.111260 0 0 BGN 633 broad.mit.edu 37 X 152770152 152770152 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:152770152G>A ENST00000331595.4 + 2 249 c.63G>A c.(61-63)caG>caA p.Q21Q BGN_ENST00000480756.1_3'UTR NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 21 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTTTGAGCAGAGAGGCTTCT 0.642000 34 1 0 0 0.225048 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64132939 64132939 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:64132939C>G ENST00000295902.6 - 7 1812 c.1227G>C c.(1225-1227)caG>caC p.Q409H PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q465H NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 409 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GGGTCTGGTTCTGCTCCATCT 0.612000 50 73 0 0 0.139131 0 0 CAD 790 broad.mit.edu 37 2 27465812 27465812 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:27465812C>T ENST00000264705.4 + 42 6613 c.6451C>T c.(6451-6453)Cga>Tga p.R2151* CAD_ENST00000403525.1_Nonsense_Mutation_p.R2088* NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2151 ATCase (Aspartate transcarbamylase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCAGAAGGAACGATTTGGCTC 0.552000 14 42 0 0 0.219247 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519256 50519256 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:50519256G>C ENST00000267842.5 + 7 1570 c.1338G>C c.(1336-1338)gaG>gaC p.E446D SLC27A2_ENST00000544960.1_Missense_Mutation_p.E211D|SLC27A2_ENST00000380902.4_Missense_Mutation_p.E393D NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 446 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) CTCAGACAGAGAAGAAAAAAC 0.383000 10 13 0 0 0.069234 0 0 FGFR3 2261 broad.mit.edu 37 4 1803395 1803395 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1803395G>A ENST00000340107.4 + 6 920 c.664G>A c.(664-666)Gac>Aac p.D222N FGFR3_ENST00000440486.2_Missense_Mutation_p.D222N|FGFR3_ENST00000260795.2_Missense_Mutation_p.D222N|FGFR3_ENST00000412135.2_Missense_Mutation_p.D222N|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.D222N|FGFR3_ENST00000352904.1_Missense_Mutation_p.D222N NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 222 Ig-like C2-type 2. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GGTGCCCTCGGACCGCGGCAA 0.692000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 15 292 0 0 0.264190 0 0 RXFP2 122042 broad.mit.edu 37 13 32366994 32366994 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:32366994G>C ENST00000298386.2 + 16 1626 c.1555G>C c.(1555-1557)Gag>Cag p.E519Q RXFP2_ENST00000380314.1_Missense_Mutation_p.E495Q NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 519 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) CTTGACTTTGGAGAAGTTCCT 0.517000 20 28 0 0 0.091800 0 0 HSPA8 3312 broad.mit.edu 37 11 122931883 122931883 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:122931883C>T ENST00000534624.1 - 2 426 c.150G>A c.(148-150)ttG>ttA p.L50L HSPA8_ENST00000532636.1_Silent_p.L50L|HSPA8_ENST00000453788.2_Silent_p.L50L|HSPA8_ENST00000227378.3_Silent_p.L50L|HSPA8_ENST00000526110.1_Silent_p.L50L|HSPA8_ENST00000533540.1_Silent_p.L50L NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 50 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CATCACCGATCAACCGTTCAG 0.448000 15 33 0 0 0.204396 0 0 ITGA3 3675 broad.mit.edu 37 17 48133990 48133990 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:48133990G>A ENST00000320031.8 + 1 517 c.187G>A c.(187-189)Gag>Aag p.E63K ITGA3_ENST00000544892.1_5'UTR|ITGA3_ENST00000007722.7_Missense_Mutation_p.E63K NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 63 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 TCGGCAGACAGAGCGGCAGCA 0.662000 12 17 0 0 0.160694 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33751570 33751570 + Silent SNP C C T rs143045075 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:33751570C>T ENST00000504830.1 - 3 908 c.573G>A c.(571-573)ccG>ccA p.P191P ADAMTS12_ENST00000352040.3_Silent_p.P191P|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Silent_p.P191P NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 191 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P191P(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AAACGATGTGCGGGTGGTACC 0.463000 HNSCC(64;0.19) 26 70 0 0 0.134883 0 0 MYO3B 140469 broad.mit.edu 37 2 171070928 171070928 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:171070928C>G ENST00000334231.6 + 4 388 c.388C>G c.(388-390)Cta>Gta p.L130V MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.L121V|MYO3B_ENST00000408978.4_Missense_Mutation_p.L121V Q8WXR4 MYO3B_HUMAN myosin IIIB 121 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGTCAAAGGTCTACTCAGATG 0.483000 46 48 0 0 0.139131 0 0 DENND5B 160518 broad.mit.edu 37 12 31540607 31540607 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:31540607C>T ENST00000389082.5 - 21 4019 c.3755G>A c.(3754-3756)cGa>cAa p.R1252Q DENND5B_ENST00000536562.1_Missense_Mutation_p.R1287Q|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1287Q NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1252 RUN 2. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CTGCAGAATTCGGATAAGGGA 0.488000 16 29 0 0 0.175082 0 0 ZAN 7455 broad.mit.edu 37 7 100382358 100382358 + RNA SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:100382358G>A ENST00000542585.1 + 0 6881 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGCCTGCGCTGAGGGCTGCAT 0.612000 23 36 0 0 0.091800 0 0 FRG1B 284802 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 5 153 0 0 0.058154 0 0 FRYL 285527 broad.mit.edu 37 4 48503750 48503750 + Splice_Site SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:48503750C>G ENST00000537810.1 - 62 9086 c.8482G>C c.(8482-8484)Gaa>Caa p.E2828Q FRYL_ENST00000507873.2_Splice_Site_p.E218Q|FRYL_ENST00000503238.1_Splice_Site_p.E2828Q|FRYL_ENST00000264319.7_Splice_Site_p.E218Q|FRYL_ENST00000358350.4_Splice_Site_p.E2828Q O94915 FRYL_HUMAN FRY-like 2828 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 AGCTCCAATTCCTAGAAATAA 0.294000 62 46 0 0 0.139131 0 0 TMC2 117532 broad.mit.edu 37 20 2582792 2582792 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:2582792G>C ENST00000358864.1 + 11 1273 c.1258G>C c.(1258-1260)Gaa>Caa p.E420Q NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 420 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GAGTAACAAAGAAGAAAATAT 0.403000 40 32 0 0 0.139131 0 0 C1orf173 127254 broad.mit.edu 37 1 75037663 75037663 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:75037663G>T ENST00000326665.5 - 14 3949 c.3731C>A c.(3730-3732)gCa>gAa p.A1244E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1244 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ATCTTTGGCTGCTAGCTCCTC 0.617000 15 40 1.01871e-10 1.0663e-10 0.204396 1 0 NCSTN 23385 broad.mit.edu 37 1 160322686 160322686 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:160322686G>A ENST00000368063.1 + 10 1226 c.946G>A c.(946-948)Gac>Aac p.D316N NCSTN_ENST00000535857.1_Missense_Mutation_p.D198N|NCSTN_ENST00000392212.4_Missense_Mutation_p.D316N|NCSTN_ENST00000368065.4_Missense_Mutation_p.D78N|NCSTN_ENST00000294785.5_Missense_Mutation_p.D336N|NCSTN_ENST00000459963.1_3'UTR Q92542 NICA_HUMAN nicastrin 336 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAAACTTTTGACTACATTGG 0.502000 22 132 0 0 0.116897 0 0 BTNL2 56244 broad.mit.edu 37 6 32362585 32362585 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:32362585G>A ENST00000454136.3 - 6 1300 c.1296C>T c.(1294-1296)gaC>gaT p.D432D BTNL2_ENST00000544175.1_Silent_p.D155D|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374993.1_Silent_p.D432D|BTNL2_ENST00000374995.3_Silent_p.D338D|BTNL2_ENST00000414363.1_Silent_p.D222D|BTNL2_ENST00000540315.1_Silent_p.D222D Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 432 integral to membrane p.D432D(1) central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 AACAAGTGACGTCCACAGCGG 0.498000 11 140 0 0 0.119110 0 0 CAST 831 broad.mit.edu 37 5 96031567 96031567 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:96031567C>G ENST00000395813.1 + 3 352 c.166C>G c.(166-168)Caa>Gaa p.Q56E CAST_ENST00000395812.2_Missense_Mutation_p.Q56E|CAST_ENST00000341926.3_5'UTR|CAST_ENST00000508830.1_Missense_Mutation_p.Q56E|CAST_ENST00000359176.4_Missense_Mutation_p.Q56E|CAST_ENST00000510756.1_Missense_Mutation_p.Q56E|CAST_ENST00000508608.1_Missense_Mutation_p.Q41E|CAST_ENST00000338252.3_5'UTR|CAST_ENST00000325674.7_Missense_Mutation_p.Q56E NM_001284213.1 NP_001271142.1 P20810 ICAL_HUMAN calpastatin 125 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) CGGCAGCAGTCAATCCTCCAG 0.423000 14 12 0 0 0.160694 0 0 MPHOSPH6 10200 broad.mit.edu 37 16 82203772 82203772 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:82203772G>A ENST00000258169.4 - 1 59 c.9C>T c.(7-9)gcC>gcT p.A3A MPHOSPH6_ENST00000569021.1_Silent_p.A3A|MPHOSPH6_ENST00000563504.1_5'UTR|MPHOSPH6_ENST00000567729.1_5'UTR NM_005792.2 NP_005783.2 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 3 M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding endometrium(1)|large_intestine(1)|lung(3) 5 TCTTTCGCTCGGCCGCCATGG 0.692000 4 2 0 0 0.119110 0 0 ACVR2A 92 broad.mit.edu 37 2 148653908 148653908 + Missense_Mutation SNP T T G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:148653908T>G ENST00000241416.7 + 2 730 c.94T>G c.(94-96)Ttc>Gtc p.F32V ACVR2A_ENST00000404590.1_Missense_Mutation_p.F32V|ACVR2A_ENST00000535787.1_Intron NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 32 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) GGAGTGTCTTTTCTTTAATGC 0.348000 34 22 0 0 0.139131 0 0 IKZF2 22807 broad.mit.edu 37 2 213914495 213914495 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:213914495G>T ENST00000457361.1 - 5 684 c.516C>A c.(514-516)ttC>ttA p.F172L IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000374319.4_Missense_Mutation_p.F146L|IKZF2_ENST00000421754.2_Missense_Mutation_p.F146L|IKZF2_ENST00000451136.2_Missense_Mutation_p.F146L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F172L|IKZF2_ENST00000434687.1_Missense_Mutation_p.F172L|IKZF2_ENST00000342002.2_Missense_Mutation_p.F178L NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CGTAGCTACAGAAAGGACATT 0.473000 23 37 2.41591e-17 2.57245e-17 0.099896 1 0 NFKBIE 4794 broad.mit.edu 37 6 44233273 44233273 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:44233273C>T ENST00000275015.5 - 1 227 c.228G>A c.(226-228)tgG>tgA p.W76* NM_004556.2 NP_004547.2 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 76 cytoplasmic sequestering of transcription factor protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGGCCAGGTCCACCCAGCGG 0.771000 3 6 0 0 0.150653 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759135 121759135 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:121759135G>A ENST00000261367.7 + 6 2272 c.844G>A c.(844-846)Gaa>Aaa p.E282K SNCAIP_ENST00000261368.8_Missense_Mutation_p.E235K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E282K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E282K|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E235K Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 235 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GTCCACTGAAGAAACCGAGAT 0.458000 23 39 0 0 0.083992 0 0 TBC1D14 57533 broad.mit.edu 37 4 6925317 6925317 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:6925317G>A ENST00000409757.4 + 2 325 c.201G>A c.(199-201)ggG>ggA p.G67G TBC1D14_ENST00000448507.1_Silent_p.G67G NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 67 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 TGGACTCGGGGATTCCTACCC 0.652000 7 87 0 0 0.047766 0 0 NBR1 4077 broad.mit.edu 37 17 41345231 41345231 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:41345231G>A ENST00000422280.1 + 11 1653 c.1194G>A c.(1192-1194)atG>atA p.M398I NBR1_ENST00000590996.1_Missense_Mutation_p.M398I|NBR1_ENST00000589872.1_Missense_Mutation_p.M398I|NBR1_ENST00000542611.1_Missense_Mutation_p.M377I|NBR1_ENST00000389312.4_Missense_Mutation_p.M398I|NBR1_ENST00000341165.6_Missense_Mutation_p.M398I NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 398 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) ACTGGAGGATGAAAAATACAG 0.443000 9 21 0 0 0.058154 0 0 KMT2C 58508 broad.mit.edu 37 7 151880184 151880184 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:151880184C>G ENST00000355193.2 - 35 5358 c.5140G>C c.(5140-5142)Gat>Cat p.D1714H KMT2C_ENST00000262189.6_Missense_Mutation_p.D1714H lysine (K)-specific methyltransferase 2C TTCATGGAATCATTTGACATC 0.353000 162 215 0 0 0.139131 0 0 PSAPL1 768239 broad.mit.edu 37 4 7436007 7436007 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:7436007G>T ENST00000319098.4 - 1 693 c.600C>A c.(598-600)tcC>tcA p.S200S SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 200 Saposin B-type 2. sphingolipid metabolic process extracellular region|lysosome lung(4) 4 AGGTCAAGTTGGACCGGACAG 0.607000 10 11 2.80697e-09 2.92566e-09 0.080935 1 0 PTAFR 5724 broad.mit.edu 37 1 28477482 28477482 + Silent SNP G G C rs143590918 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:28477482G>C ENST00000373857.3 - 2 685 c.51C>G c.(49-51)ctC>ctG p.L17L PTAFR_ENST00000305392.3_Silent_p.L17L|PTAFR_ENST00000539896.1_Silent_p.L17L NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 17 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CAATCGGGAAGAGAGTGTATC 0.527000 30 29 0 0 0.257332 0 0 TMEM139 135932 broad.mit.edu 37 7 142983919 142983919 + Silent SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:142983919T>C ENST00000359333.3 + 3 1161 c.648T>C c.(646-648)ccT>ccC p.P216P TMEM139_ENST00000410004.1_Silent_p.P216P|TMEM139_ENST00000409244.1_Silent_p.P216P|TMEM139_ENST00000409102.1_Silent_p.P216P|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409541.1_Silent_p.P216P NM_001242775.2|NM_001282876.1|NM_001282877.1 NP_001229704.1|NP_001269805.1|NP_001269806.1 Q8IV31 TM139_HUMAN transmembrane protein 139 216 integral to membrane endometrium(1)|lung(4)|ovary(1)|prostate(1) 7 Melanoma(164;0.059) GGGCACCCCCTTAAATGACTC 0.468000 3 164 0 0 0.115264 0 0 NPR2 4882 broad.mit.edu 37 9 35805555 35805555 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:35805555C>G ENST00000342694.2 + 13 2190 c.1935C>G c.(1933-1935)ctC>ctG p.L645L NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 645 Protein kinase. intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) ATGGGAGTCTCAAGTCCTCCA 0.488000 77 9 0 0 0.139131 0 0 EIF3L 51386 broad.mit.edu 37 22 38245481 38245481 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:38245481G>A ENST00000412331.2 + 1 607 c.25G>A c.(25-27)Gag>Aag p.E9K EIF3L_ENST00000381683.6_Missense_Mutation_p.E9K|EIF3L_ENST00000476955.1_3'UTR NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 9 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGATGATTATGAGTCTGAGGT 0.647000 100 150 0 0 0.139131 0 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:11058322C>T ENST00000470054.1 - 0 325 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATGCACATCGCTGAAAGGG 0.383000 8 214 0 0 0.093190 0 0 KLK8 11202 broad.mit.edu 37 19 51503318 51503318 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:51503318C>T ENST00000600767.1 - 5 916 c.427G>A c.(427-429)Gat>Aat p.D143N KLK8_ENST00000291726.7_Missense_Mutation_p.D143N|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.D188N O60259 KLK8_HUMAN kallikrein-related peptidase 8 143 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) GTGCAATGATCTGCCAGGCTG 0.587000 16 23 0 0 0.146539 0 0 GPN1 11321 broad.mit.edu 37 2 27858051 27858051 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:27858051G>A ENST00000264718.3 + 7 537 c.516G>A c.(514-516)tcG>tcA p.S172S GPN1_ENST00000458167.2_Silent_p.S63S|GPN1_ENST00000424214.1_Silent_p.S79S|GPN1_ENST00000515877.1_Silent_p.S79S|GPN1_ENST00000503738.1_Silent_p.S63S|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000610189.1_Silent_p.S158S|GPN1_ENST00000407583.3_Silent_p.S146S Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 158 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|large_intestine(1)|lung(12) 14 TGGACACATCGAGAAGTACCA 0.443000 65 44 0 0 0.139131 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618708 77618708 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:77618708G>A ENST00000521891.2 + 2 2833 c.2385G>A c.(2383-2385)atG>atA p.M795I ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M795I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M795I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M795I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 795 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGCATAATATGATGCTTTTGC 0.483000 HNSCC(33;0.089) 6 13 0 0 0.248553 0 0 C3orf70 285382 broad.mit.edu 37 3 184870595 184870595 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:184870595G>A ENST00000335012.2 - 1 207 c.17C>T c.(16-18)tCg>tTg p.S6L NM_001025266.1 NP_001020437.1 A6NLC5 CC070_HUMAN chromosome 3 open reading frame 70 6 p.S6L(2) breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1) 13 CGACGCCGGCGAGGCCGCCGC 0.716000 15 19 0 0 0.175082 0 0 MX2 4600 broad.mit.edu 37 21 42752066 42752066 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:42752066G>C ENST00000330714.3 + 4 749 c.565G>C c.(565-567)Gag>Cag p.E189Q MX2_ENST00000543692.1_Intron NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 189 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) GGTGGAGAAAGAGATACACAA 0.577000 33 9 0 0 0.268233 0 0 ACP5 54 broad.mit.edu 37 19 11687649 11687649 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:11687649C>G ENST00000592828.1 - 5 673 c.271G>C c.(271-273)Gag>Cag p.E91Q ACP5_ENST00000433365.2_Missense_Mutation_p.E91Q|ACP5_ENST00000218758.5_Missense_Mutation_p.E91Q|ACP5_ENST00000412435.2_Missense_Mutation_p.E91Q|ACP5_ENST00000590420.1_Intron NM_001111034.1 NP_001104504.1 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 91 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 9 AATACGTCCTCAAAGGTCTCC 0.552000 54 48 0 0 0.139131 0 0 PAOX 196743 broad.mit.edu 37 10 135204914 135204914 + Nonsense_Mutation SNP C C T rs140094339 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:135204914C>T ENST00000357296.3 + 6 1389 c.1333C>T c.(1333-1335)Cag>Tag p.Q445* PAOX_ENST00000278060.5_Silent_p.L497L|PAOX_ENST00000480071.2_3'UTR|RP11-108K14.8_ENST00000468317.2_Nonsense_Mutation_p.Q37*|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR NM_207128.1 NP_997011.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 592 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) ACCGCCTCCTCAGTCTGTGGG 0.662000 24 35 0 0 0.091800 0 0 HIVEP3 59269 broad.mit.edu 37 1 42041338 42041338 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:42041338G>A ENST00000372584.1 - 4 6098 c.5084C>T c.(5083-5085)tCc>tTc p.S1695F HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1695F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1695F|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1695F NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1695 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.S1695F(1) NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCCTTCCGGGGAAACCAGTGA 0.542000 39 37 0 0 0.131918 0 0 TMOD2 29767 broad.mit.edu 37 15 52090495 52090495 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:52090495G>A ENST00000249700.4 + 8 1055 c.834G>A c.(832-834)ctG>ctA p.L278L TMOD2_ENST00000539962.2_Silent_p.L234L|TMOD2_ENST00000435126.2_Silent_p.L242L NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 278 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) TAGAGGCACTGAAAGAAAATG 0.453000 9 22 0 0 0.093190 0 0 NEB 4703 broad.mit.edu 37 2 152397312 152397312 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:152397312G>C ENST00000397345.3 - 137 20888 c.20686C>G c.(20686-20688)Ctg>Gtg p.L6896V NEB_ENST00000172853.10_Missense_Mutation_p.L5195V|NEB_ENST00000604864.1_Missense_Mutation_p.L6896V|NEB_ENST00000427231.2_Missense_Mutation_p.L6896V|NEB_ENST00000409198.1_Missense_Mutation_p.L5195V|NEB_ENST00000603639.1_Missense_Mutation_p.L6896V NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 5195 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCAACATACAGATACTGAATA 0.418000 15 24 0 0 0.146539 0 0 IL31RA 133396 broad.mit.edu 37 5 55178999 55178999 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:55178999C>T ENST00000396834.1 + 7 1021 c.525C>T c.(523-525)ttC>ttT p.F175F IL31RA_ENST00000359040.5_Silent_p.F194F|IL31RA_ENST00000447346.2_Silent_p.F194F|IL31RA_ENST00000354961.4_Silent_p.F175F|IL31RA_ENST00000297015.3_Silent_p.F52F|IL31RA_ENST00000490985.1_Silent_p.F52F|IL31RA_ENST00000396836.2_Silent_p.F194F NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 162 Fibronectin type-III 2. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CACTTCGATTCAGGACAGTCA 0.388000 31 13 0 0 0.235728 0 0 SEMA5B 54437 broad.mit.edu 37 3 122646670 122646670 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:122646670G>T ENST00000195173.4 - 8 1120 c.817C>A c.(817-819)Cgc>Agc p.R273S SEMA5B_ENST00000357599.3_Missense_Mutation_p.R273S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R327S Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 273 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TGGGCAGTGCGAAGCGGTGGC 0.627000 30 38 9.9191e-30 1.08188e-29 0.268233 1 0 FAM117A 81558 broad.mit.edu 37 17 47797711 47797711 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:47797711G>C ENST00000240364.2 - 4 629 c.550C>G c.(550-552)Cac>Gac p.H184D FAM117A_ENST00000513602.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 184 haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 CGCACTGCGTGGTCCCCTAGG 0.587000 50 99 0 0 0.139131 0 0 ACOT11 26027 broad.mit.edu 37 1 55058277 55058277 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:55058277G>C ENST00000371316.3 + 4 452 c.370G>C c.(370-372)Gag>Cag p.E124Q ACOT11_ENST00000343744.2_Missense_Mutation_p.E124Q|ACOT11_ENST00000481208.1_3'UTR NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 124 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CTCCAGCATGGAGGTGTGTGG 0.597000 35 49 0 0 0.246493 0 0 ATP6V0E1 8992 broad.mit.edu 37 5 172410891 172410891 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:172410891C>G ENST00000519374.1 + 1 132 c.28C>G c.(28-30)Ctc>Gtc p.L10V ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.L10V|ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L10V|ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L10V NM_003945.3 NP_003936.1 O15342 VA0E1_HUMAN ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 10 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole proton-transporting ATPase activity, rotational mechanism lung(2) 2 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CACTGTGCCTCTCATTGTGAT 0.617000 91 180 0 0 0.139131 0 0 NFIL3 4783 broad.mit.edu 37 9 94172288 94172288 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:94172288G>A ENST00000297689.3 - 2 1123 c.729C>T c.(727-729)atC>atT p.I243I NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 243 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 AGTTTTGATAGATGGACGCTG 0.488000 46 8 0 0 0.139131 0 0 CLCN4 1183 broad.mit.edu 37 X 10188910 10188910 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:10188910C>T ENST00000380833.4 + 12 2576 c.2185C>T c.(2185-2187)Cgg>Tgg p.R729W CLCN4_ENST00000380829.1_Missense_Mutation_p.R698W|CLCN4_ENST00000421085.2_Missense_Mutation_p.R635W NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 729 CBS 2. early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCTGGTGACGCGGAGCGGGTG 0.567000 47 4 0 0 0.139131 0 0 AMACR 23600 broad.mit.edu 37 5 33997421 33997421 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:33997421G>A ENST00000382068.3 - 4 789 c.781C>T c.(781-783)Cag>Tag p.Q261* AMACR_ENST00000335606.6_Intron|AMACR_ENST00000502637.1_Intron|AMACR_ENST00000514195.1_Intron|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000426255.2_3'UTR|AMACR_ENST00000512079.1_Intron|AMACR_ENST00000441713.2_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000382085.3_Intron Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase M -> I (in dbSNP:rs9282593).|M -> T (in dbSNP:rs3195678). bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 CCAGCAGCCTGAGTGTAACAT 0.418000 OREG0016555 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 45 0 0 0.139131 0 0 GK2 2712 broad.mit.edu 37 4 80328945 80328945 + Missense_Mutation SNP A A T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:80328945A>T ENST00000358842.3 - 1 427 c.410T>A c.(409-411)gTc>gAc p.V137D NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 137 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CTTAGACTTGACGAAGTTACT 0.428000 16 125 0 0 0.160694 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197163 26197163 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:26197163C>T ENST00000377831.5 - 2 769 c.316G>A c.(316-318)Gag>Aag p.E106K HIST1H3D_ENST00000356476.2_Missense_Mutation_p.E106K NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 106 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.E106Q(1) NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) TTGGTGTCCTCAAACAGCCCC 0.592000 61 67 0 0 0.139131 0 0 OGG1 4968 broad.mit.edu 37 3 9791955 9791955 + Translation_Start_Site SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:9791955G>A ENST00000302036.7 + 0 328 OGG1_ENST00000302003.7_De_novo_Start_InFrame|OGG1_ENST00000383826.5_De_novo_Start_InFrame|OGG1_ENST00000344629.7_De_novo_Start_InFrame|OGG1_ENST00000339511.5_De_novo_Start_InFrame|OGG1_ENST00000349503.5_De_novo_Start_InFrame|OGG1_ENST00000302008.8_De_novo_Start_InFrame|OGG1_ENST00000449570.2_De_novo_Start_InFrame|OGG1_ENST00000436092.1_3'UTR NM_016821.2 NP_058214.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) ACTACGGGGCGGTGCCTGCTG 0.682000 Base excision repair (BER), DNA glycosylases 18 29 0 0 0.264190 0 0 MRPS22 56945 broad.mit.edu 37 3 139062910 139062910 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:139062910G>C ENST00000495075.1 + 3 474 c.42G>C c.(40-42)ttG>ttC p.L14F MRPS22_ENST00000310776.4_Missense_Mutation_p.L14F|MRPS22_ENST00000465056.1_Missense_Mutation_p.L14F P82650 RT22_HUMAN mitochondrial ribosomal protein S22 14 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 GGAGCCTCTTGAGGAGTTCTC 0.602000 20 30 0 0 0.091800 0 0 BGN 633 broad.mit.edu 37 X 152770154 152770154 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:152770154G>A ENST00000331595.4 + 2 251 c.65G>A c.(64-66)aGa>aAa p.R22K BGN_ENST00000480756.1_3'UTR NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 22 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTTGAGCAGAGAGGCTTCTGG 0.642000 39 1 0 0 0.117977 0 0 DOCK9 23348 broad.mit.edu 37 13 99538841 99538841 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:99538841C>G ENST00000376460.1 - 19 2161 c.2081G>C c.(2080-2082)aGa>aCa p.R694T DOCK9_ENST00000339416.2_Missense_Mutation_p.R695T|DOCK9_ENST00000442173.1_Missense_Mutation_p.R694T|DOCK9_ENST00000448493.2_Missense_Mutation_p.R706T NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 695 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AAAGGCGCTTCTTGTGAAAAC 0.383000 13 15 0 0 0.189662 0 0 RAET1E 135250 broad.mit.edu 37 6 150209697 150209697 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:150209697G>A ENST00000357183.4 - 4 861 c.729C>T c.(727-729)ctC>ctT p.L243L RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L207L|RAET1E_ENST00000532335.1_Intron NM_139165.2 NP_631904.1 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E 243 antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) AGACACAGATGAGAACAATTC 0.473000 34 71 0 0 0.268233 0 0 ERBB2 2064 broad.mit.edu 37 17 37879820 37879820 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:37879820G>A ENST00000406381.2 + 20 2535 c.2025G>A c.(2023-2025)gcG>gcA p.A675A ERBB2_ENST00000584450.1_Silent_p.A705A|ERBB2_ENST00000584601.1_Silent_p.A675A|ERBB2_ENST00000540147.1_Silent_p.A675A|ERBB2_ENST00000269571.5_Silent_p.A705A|ERBB2_ENST00000541774.1_Silent_p.A690A|ERBB2_ENST00000445658.2_Silent_p.A429A NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 705 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTAGCGGAGCGATGCCCAACC 0.652000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 6 8 0 0 0.038147 0 0 MUC16 94025 broad.mit.edu 37 19 9082528 9082528 + Nonsense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9082528G>T ENST00000397910.4 - 1 9490 c.9287C>A c.(9286-9288)tCa>tAa p.S3096* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3097 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTCTGGCTTGAGGTTAACTC 0.478000 82 73 4.03479e-65 4.44007e-65 0.139131 1 0 RNF213 57674 broad.mit.edu 37 17 78237494 78237494 + Missense_Mutation SNP C C T rs142962817 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:78237494C>T ENST00000582970.1 + 2 157 c.14C>T c.(13-15)tCg>tTg p.S5L RNF213_ENST00000456466.1_Missense_Mutation_p.S5L|RNF213_ENST00000508628.2_Missense_Mutation_p.S5L|RNF213_ENST00000319921.4_Missense_Mutation_p.S5L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 5 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GAGTGTCCTTCGTGCCAGCAT 0.607000 41 54 0 0 0.139131 0 0 TDP1 55775 broad.mit.edu 37 14 90437609 90437609 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:90437609C>T ENST00000357382.3 + 6 996 c.68C>T c.(67-69)tCt>tTt p.S23F TDP1_ENST00000393452.3_Silent_p.L250L|TDP1_ENST00000555880.1_Silent_p.L250L|TDP1_ENST00000335725.4_Silent_p.L250L|TDP1_ENST00000393454.2_Silent_p.L250L|TDP1_ENST00000555565.1_3'UTR Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 0 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) ACATCTCTCTCTGCCAGGTAA 0.498000 Repair of DNA-protein crosslinks 41 29 0 0 0.139131 0 0 ZMYM2 7750 broad.mit.edu 37 13 20608481 20608481 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:20608481G>A ENST00000382869.3 + 11 2307 c.2056G>A c.(2056-2058)Gag>Aag p.E686K ZMYM2_ENST00000382871.2_Missense_Mutation_p.E686K|ZMYM2_ENST00000382883.3_Missense_Mutation_p.E168K|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E686K NM_001190965.1|NM_003453.3|NM_197968.2 NP_001177894.1|NP_003444.1|NP_932072.1 Q9UBW7 ZMYM2_HUMAN zinc finger, MYM-type 2 686 regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body ubiquitin conjugating enzyme binding|zinc ion binding large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856) ATACTGTCAAGAGGAGAAGAC 0.358000 30 53 0 0 0.173368 0 0 ZNF622 90441 broad.mit.edu 37 5 16453158 16453158 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:16453158G>A ENST00000308683.2 - 5 1396 c.1270C>T c.(1270-1272)Cag>Tag p.Q424* NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 424 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 CTGTACTGCTGAAGTACTCGG 0.502000 18 39 0 0 0.234183 0 0 SLC17A6 57084 broad.mit.edu 37 11 22396376 22396376 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:22396376C>G ENST00000263160.3 + 9 1554 c.1117C>G c.(1117-1119)Cta>Gta p.L373V NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 373 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGCAGATTTTCTAAGAAGCAA 0.388000 84 103 0 0 0.139131 0 0 USP10 9100 broad.mit.edu 37 16 84778635 84778635 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:84778635C>T ENST00000219473.7 + 4 661 c.548C>T c.(547-549)tCa>tTa p.S183L USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.S187L NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 183 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 CATGCCAATTCAGCAGTCCCG 0.498000 35 38 0 0 0.139131 0 0 SMARCA4 6597 broad.mit.edu 37 19 11123777 11123777 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:11123777C>T ENST00000358026.2 + 16 2711 c.2427C>T c.(2425-2427)atC>atT p.I809I CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000429416.3_Silent_p.I809I|SMARCA4_ENST00000541122.2_Silent_p.I809I|SMARCA4_ENST00000450717.3_Silent_p.I809I|SMARCA4_ENST00000590574.1_Silent_p.I809I|SMARCA4_ENST00000413806.3_Silent_p.I809I|SMARCA4_ENST00000589677.1_Silent_p.I809I|SMARCA4_ENST00000444061.3_Silent_p.I809I|SMARCA4_ENST00000344626.4_Silent_p.I809I NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 809 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TCCTCATCATCGTGCCTCTCT 0.567000 """F, N, Mis""" NSCLC 18 26 0 0 0.091800 0 0 TACC3 10460 broad.mit.edu 37 4 1737475 1737475 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1737475G>T ENST00000313288.4 + 8 1768 c.1662G>T c.(1660-1662)ttG>ttT p.L554F NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 554 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AGTCGGCCTTGAGGAAGCAGT 0.607000 740 418 1.79415e-318 1.97878e-318 0.139131 1 0 DHX37 57647 broad.mit.edu 37 12 125451375 125451375 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:125451375C>T ENST00000308736.2 - 12 1652 c.1554G>A c.(1552-1554)aaG>aaA p.K518K DHX37_ENST00000544745.1_Silent_p.K305K NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 518 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCCTTGACTTCTTAAACTTCC 0.617000 34 58 0 0 0.131918 0 0 PAK7 57144 broad.mit.edu 37 20 9520184 9520184 + Silent SNP G G A rs141553527 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:9520184G>A ENST00000378429.3 - 11 2631 c.2085C>T c.(2083-2085)ctC>ctT p.L695L PAK7_ENST00000378423.1_Silent_p.L695L|PAK7_ENST00000353224.5_Silent_p.L695L NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 695 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) ATGGATGTCCGAGGAGTTCCT 0.512000 87 137 0 0 0.139131 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95067591 95067591 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:95067591G>A ENST00000379982.3 + 2 539 c.31G>A c.(31-33)Gag>Aag p.E11K CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.E11K NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 11 Rho-like. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) GCTGGGGAACGAGGGGGACAC 0.652000 18 42 0 0 0.108266 0 0 KIF15 56992 broad.mit.edu 37 3 44835802 44835802 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:44835802G>C ENST00000326047.4 + 8 882 c.733G>C c.(733-735)Gag>Cag p.E245Q NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 245 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AATTACAATAGAGTCAATGGA 0.428000 40 66 0 0 0.117977 0 0 RAET1E 135250 broad.mit.edu 37 6 150210554 150210554 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:150210554G>C ENST00000532335.1 - 4 898 c.552C>G c.(550-552)ctC>ctG p.L184L RAET1E_ENST00000529948.1_Silent_p.L184L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000357183.4_Silent_p.L184L|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L148L NM_001243328.1 NP_001230257.1 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E 184 MHC class I alpha-2 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CTCCCTTTGAGAGCTTCCTGA 0.493000 24 42 0 0 0.108266 0 0 NASP 4678 broad.mit.edu 37 1 46083736 46083736 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:46083736G>A ENST00000350030.3 + 15 2377 c.2290G>A c.(2290-2292)Gag>Aag p.E764K NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Missense_Mutation_p.E425K|NASP_ENST00000372052.4_Missense_Mutation_p.E398K|NASP_ENST00000402363.3_Missense_Mutation_p.E766K|NASP_ENST00000537798.1_Missense_Mutation_p.E700K NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 764 blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) CTTCCAGGCTGAGAATCAGGC 0.517000 5 7 0 0 0.038147 0 0 NOMO1 23420 broad.mit.edu 37 16 14969017 14969017 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:14969017G>A ENST00000287667.7 + 19 2350 c.2179G>A c.(2179-2181)Gag>Aag p.E727K NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 727 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 AAACGGCAATGAGGAAGGCGA 0.567000 78 169 0 0 0.139131 0 0 SEMA3F 6405 broad.mit.edu 37 3 50222226 50222226 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:50222226G>A ENST00000002829.3 + 13 1919 c.1435G>A c.(1435-1437)Gag>Aag p.E479K SEMA3F_ENST00000434342.1_Missense_Mutation_p.E448K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E380K NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 479 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) CGGGCGCTATGAGGTGCTTTT 0.682000 15 16 0 0 0.175082 0 0 TENM4 26011 broad.mit.edu 37 11 78516497 78516497 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:78516497G>A ENST00000278550.7 - 15 2481 c.2019C>T c.(2017-2019)tgC>tgT p.C673C NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CGCCTCTCACGCAGACACCCC 0.582000 4 12 0 0 0.217242 0 0 ZNF200 7752 broad.mit.edu 37 16 3274554 3274554 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:3274554C>G ENST00000431561.3 - 5 1138 c.526G>C c.(526-528)Gat>Cat p.D176H ZNF200_ENST00000414144.2_Missense_Mutation_p.D176H|ZNF200_ENST00000396871.4_Missense_Mutation_p.D175H|ZNF200_ENST00000396870.4_Missense_Mutation_p.D175H|ZNF200_ENST00000396868.3_Missense_Mutation_p.D175H|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Missense_Mutation_p.D175H NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 TCTCTATAATCTTCATTTTCT 0.398000 3 41 0 0 0.115264 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914896 94914896 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:94914896G>A ENST00000334708.3 - 2 280 c.216C>T c.(214-216)aaC>aaT p.N72N RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 72 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) AGAAGAAGATGTTTCCGGGGG 0.567000 82 107 0 0 0.139131 0 0 ZAN 7455 broad.mit.edu 37 7 100334701 100334701 + RNA SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:100334701C>T ENST00000542585.1 + 0 671 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCTGCCCACCCGGGTAAGGCC 0.657000 9 0 0 0 0.093190 0 0 CHERP 10523 broad.mit.edu 37 19 16631645 16631645 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:16631645C>G ENST00000546361.2 - 13 2344 c.2193G>C c.(2191-2193)aaG>aaC p.K731N CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.K742N NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 731 Arg-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ACCTGTTCCTCTTCTCCTGGC 0.592000 36 47 0 0 0.117977 0 0 NGLY1 55768 broad.mit.edu 37 3 25805630 25805630 + Nonsense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:25805630G>C ENST00000428257.1 - 3 526 c.419C>G c.(418-420)tCa>tGa p.S140* NGLY1_ENST00000422724.2_Nonsense_Mutation_p.S63*|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.S140*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.S98*|NGLY1_ENST00000280700.5_Nonsense_Mutation_p.S140* NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 140 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 ACTGGGATTTGAAGATGGTGT 0.448000 47 55 0 0 0.139131 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155921970 155921970 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:155921970G>A ENST00000462460.2 - 20 2430 c.2176C>T c.(2176-2178)Cga>Tga p.R726* ARHGEF2_ENST00000368315.4_Nonsense_Mutation_p.R682*|ARHGEF2_ENST00000361247.4_Nonsense_Mutation_p.R681*|ARHGEF2_ENST00000313667.4_Nonsense_Mutation_p.R680*|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Nonsense_Mutation_p.R653*|ARHGEF2_ENST00000313695.7_Nonsense_Mutation_p.R653* Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GCTGGCTCTCGGGGTGTCAAG 0.602000 8 63 0 0 0.047766 0 0 RTF1 23168 broad.mit.edu 37 15 41763545 41763545 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:41763545C>T ENST00000389629.4 + 8 1213 c.1201C>T c.(1201-1203)Cgg>Tgg p.R401W NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 401 Plus3. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) ACCAGTTTACCGGGTTGGTAT 0.443000 27 31 0 0 0.125774 0 0 FGGY 55277 broad.mit.edu 37 1 60139745 60139745 + Silent SNP C C G rs114601020 by1000genomes TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:60139745C>G ENST00000371218.4 + 15 1708 c.1524C>G c.(1522-1524)tcC>tcG p.S508S FGGY_ENST00000371210.1_Silent_p.S185S|FGGY_ENST00000303721.7_Silent_p.S484S|FGGY_ENST00000371212.1_Silent_p.S396S NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 484 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) AGGTGGAGTCCGTTCTTGTGG 0.612000 15 28 0 0 0.219247 0 0 TBC1D4 9882 broad.mit.edu 37 13 75933988 75933988 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:75933988G>A ENST00000377636.3 - 3 1433 c.1087C>T c.(1087-1089)Cga>Tga p.R363* TBC1D4_ENST00000377625.2_Nonsense_Mutation_p.R363*|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Nonsense_Mutation_p.R363* NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 363 PID 2. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) ATCTCAAATCGCCCAACCTTA 0.274000 11 38 0 0 0.080935 0 0 ZBTB41 360023 broad.mit.edu 37 1 197169253 197169253 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:197169253C>G ENST00000367405.4 - 1 419 c.351G>C c.(349-351)ttG>ttC p.L117F ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 117 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 GATTTTTGCTCAAACACGCAT 0.358000 60 26 0 0 0.139131 0 0 UBBP4 23666 broad.mit.edu 37 17 21730744 21730744 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:21730744G>A ENST00000584755.1 + 2 443 c.46G>A c.(46-48)Gaa>Aaa p.E16K UBBP4_ENST00000578713.1_Missense_Mutation_p.E16K|UBBP4_ENST00000584398.1_Missense_Mutation_p.E16K|UBBP4_ENST00000583708.1_Missense_Mutation_p.E16K endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 CATCACCCTTGAAGTGGAGCC 0.438000 4 5 0 0 0.217242 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30950948 30950948 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:30950948G>A ENST00000402321.1 - 3 1581 c.1264C>T c.(1264-1266)Cgg>Tgg p.R422W GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R422W|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R422W|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R422W|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R422W|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R422W|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R422W Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 422 R -> E (in Ref. 1; AA sequence). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 CGTCACCACCGCAGGAAATCG 0.687000 3 22 0 0 0.150653 0 0 MED12 9968 broad.mit.edu 37 X 70360617 70360617 + Silent SNP A A G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:70360617A>G ENST00000333646.6 + 42 6385 c.6186A>G c.(6184-6186)caA>caG p.Q2062Q MED12_ENST00000374080.3_Silent_p.Q2059Q|MED12_ENST00000374102.1_Silent_p.Q2058Q NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2059 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) aacagcagcaacagcaacagc 0.592000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 9 22 0 0 0.132662 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30906540 30906540 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:30906540G>A ENST00000251071.5 - 1 908 c.158C>T c.(157-159)tCa>tTa p.S53L CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.S53L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.S53L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.S53L NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 53 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TGAAACAGATGAGGCTGAAGG 0.463000 OREG0021723 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 50 0 0 0.139131 0 0 SIN3A 25942 broad.mit.edu 37 15 75676654 75676654 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:75676654G>T ENST00000394947.3 - 17 3460 c.3146C>A c.(3145-3147)aCg>aAg p.T1049K SIN3A_ENST00000360439.4_Missense_Mutation_p.T1049K|SIN3A_ENST00000394949.4_Missense_Mutation_p.T1049K NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 1049 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CCGCTGATACGTTGACTCCAG 0.493000 8 144 4.1943e-16 4.44686e-16 0.069234 1 0 TEX26 122046 broad.mit.edu 37 13 31506889 31506889 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:31506889C>T ENST00000380473.3 + 1 50 c.37C>T c.(37-39)Ctc>Ttc p.L13F TEX26-AS1_ENST00000587596.1_RNA|TEX26-AS1_ENST00000591131.1_RNA|TEX26-AS1_ENST00000591300.1_RNA NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 13 GGATCCCTCTCTCTGCCACCA 0.672000 15 22 0 0 0.189662 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45556270 45556270 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:45556270C>T ENST00000588982.1 - 4 1722 c.1221G>A c.(1219-1221)ctG>ctA p.L407L ZBTB7C_ENST00000590800.1_Silent_p.L407L|ZBTB7C_ENST00000535628.2_Silent_p.L407L|ZBTB7C_ENST00000332053.2_Silent_p.L407L|ZBTB7C_ENST00000586438.1_Silent_p.L407L A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 407 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TGTGGATTTTCAGCTTGTCCT 0.577000 14 40 0 0 0.119110 0 0 TAAR5 9038 broad.mit.edu 37 6 132909813 132909813 + Nonstop_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:132909813C>G ENST00000258034.2 - 1 1064 c.1013G>C c.(1012-1014)tGa>tCa p.*338S NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 0 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) TAGAAGGAATCATTCTTGGTA 0.488000 32 27 0 0 0.111260 0 0 NHEJ1 79840 broad.mit.edu 37 2 220022246 220022246 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:220022246G>C ENST00000356853.5 - 3 471 c.338C>G c.(337-339)tCt>tGt p.S113C NHEJ1_ENST00000409720.1_Missense_Mutation_p.S113C NM_024782.2 NP_079058.1 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 113 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 12 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) GGGGAGGCCAGAGAGCTCACT 0.527000 Non-homologous end-joining 32 33 0 0 0.225048 0 0 MPPED1 758 broad.mit.edu 37 22 43870629 43870629 + Silent SNP C C T rs139800936 by1000genomes TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:43870629C>T ENST00000417669.2 + 4 864 c.420C>T c.(418-420)taC>taT p.Y140Y MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000443721.1_Silent_p.Y140Y|MPPED1_ENST00000414469.2_Silent_p.Y34Y|MPPED1_ENST00000542779.1_Silent_p.Y140Y|MPPED1_ENST00000538182.1_Silent_p.Y173Y O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 hydrolase activity p.Y140*(1) endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GCCTGCCCTACGAGTACAAGA 0.582000 4 171 0 0 0.150653 0 0 COL6A1 1291 broad.mit.edu 37 21 47419594 47419594 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:47419594G>A ENST00000361866.3 + 27 1878 c.1764G>A c.(1762-1764)ccG>ccA p.P588P NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 588 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) ACCAAGGACCGCCTGGGCCGG 0.632000 17 17 0 0 0.219247 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968350 64968350 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:64968350G>A ENST00000399262.2 - 10 3297 c.3079C>T c.(3079-3081)Caa>Taa p.Q1027* JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q845*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q808*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q808* NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1027 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ATACTTTCTTGAAGAATTCGA 0.418000 30 72 0 0 0.144211 0 0 MOCS3 27304 broad.mit.edu 37 20 49576100 49576100 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:49576100G>A ENST00000244051.1 + 1 738 c.721G>A c.(721-723)Gac>Aac p.D241N NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 241 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 CAACTGCGCGGACGGCGGGGT 0.622000 64 173 0 0 0.139131 0 0 NFKBIE 4794 broad.mit.edu 37 6 44233256 44233256 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:44233256C>T ENST00000275015.5 - 1 244 c.245G>A c.(244-246)cGa>cAa p.R82Q NM_004556.2 NP_004547.2 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 82 cytoplasmic sequestering of transcription factor protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGACAAGGTTCGGAGCGCTGG 0.761000 3 5 0 0 0.150653 0 0 MOGAT3 346606 broad.mit.edu 37 7 100843571 100843571 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:100843571C>T ENST00000223114.4 - 3 398 c.232G>A c.(232-234)Gag>Aag p.E78K MOGAT3_ENST00000379423.3_Missense_Mutation_p.E78K|MOGAT3_ENST00000440203.2_Missense_Mutation_p.E78K NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 78 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) CTTATCCACTCCGAACGCCTT 0.562000 81 128 0 0 0.139131 0 0 ZFR2 23217 broad.mit.edu 37 19 3816707 3816707 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:3816707G>A ENST00000262961.4 - 13 2078 c.2068C>T c.(2068-2070)Cgg>Tgg p.R690W NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 690 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GCGATCCTCCGCAGCAGGCTG 0.687000 3 35 0 0 0.150653 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111929934 111929934 + Splice_Site SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:111929934G>A ENST00000375741.2 + 14 1733 c.1483G>A c.(1483-1485)Gaa>Aaa p.E495K ARHGEF7_ENST00000375737.5_Splice_Site_p.E392K|ARHGEF7_ENST00000375739.2_Splice_Site_p.E445K|ARHGEF7_ENST00000426073.2_Splice_Site_p.E317K|ARHGEF7_ENST00000375723.1_Splice_Site_p.E317K|ARHGEF7_ENST00000370623.3_Splice_Site_p.E402K|ARHGEF7_ENST00000317133.5_Splice_Site_p.E474K|ARHGEF7_ENST00000544132.1_Splice_Site_p.E151K|ARHGEF7_ENST00000375736.4_Splice_Site_p.E317K|ARHGEF7_ENST00000478679.1_Splice_Site_p.E239K|ARHGEF7_ENST00000218789.5_Splice_Site_p.E317K NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 495 PH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TTTGTATTAGGAAAAGAATGA 0.313000 9 19 0 0 0.069234 0 0 TNS3 64759 broad.mit.edu 37 7 47454805 47454805 + Splice_Site SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:47454805C>T ENST00000398879.1 - 11 840 c.e11-1 TNS3_ENST00000442536.2_Splice_Site|TNS3_ENST00000458317.2_Splice_Site|TNS3_ENST00000355730.3_Splice_Site|TNS3_ENST00000311160.9_Splice_Site Q68CZ2 TENS3_HUMAN tensin 3 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CTGAACATACCTGCAAAACGG 0.537000 13 16 0 0 0.132662 0 0 ZNF852 285346 broad.mit.edu 37 3 44541938 44541938 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:44541938C>T ENST00000436261.1 - 4 491 c.331G>A c.(331-333)Gaa>Aaa p.E111K ZNF852_ENST00000489411.1_5'UTR B6EU87 B6EU87_HUMAN zinc finger protein 852 111 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|lung(5) 8 AAATCACTTTCTAGTCTGCTC 0.408000 7 16 0 0 0.038147 0 0 PBLD 64081 broad.mit.edu 37 10 70044041 70044041 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:70044041G>A ENST00000358769.2 - 10 962 c.760C>T c.(760-762)Cag>Tag p.Q254* PBLD_ENST00000336578.1_Nonsense_Mutation_p.Q221*|PBLD_ENST00000309049.4_Nonsense_Mutation_p.Q254* NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing 254 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 TGGGAACACTGAAAAGCTAAA 0.423000 18 31 0 0 0.175082 0 0 COG1 9382 broad.mit.edu 37 17 71197795 71197795 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:71197795C>T ENST00000299886.4 + 7 1909 c.1829C>T c.(1828-1830)tCa>tTa p.S610L NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 610 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) AAGCTGCACTCAGTTCTTTTC 0.552000 20 27 0 0 0.219247 0 0 CHTF18 63922 broad.mit.edu 37 16 847068 847068 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:847068G>C ENST00000317063.6 + 22 3336 c.3336G>C c.(3334-3336)atG>atC p.M1112I CHTF18_ENST00000262315.9_Missense_Mutation_p.M903I|CHTF18_ENST00000455171.2_Missense_Mutation_p.M931I Q8WVB6 CTF18_HUMAN CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) 903 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) AGCACATCATGAGGCGAGCGG 0.672000 43 48 0 0 0.139131 0 0 SPTAN1 6709 broad.mit.edu 37 9 131342008 131342008 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:131342008G>A ENST00000358161.5 + 10 1427 c.1314G>A c.(1312-1314)gtG>gtA p.V438V SPTAN1_ENST00000372739.3_Silent_p.V438V|SPTAN1_ENST00000372731.4_Silent_p.V438V Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 438 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CAGATGAAGTGAGGGAGAAGG 0.428000 15 1 0 0 0.160694 0 0 CHD3 1107 broad.mit.edu 37 17 7797534 7797534 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:7797534C>T ENST00000380358.4 + 7 1204 c.1203C>T c.(1201-1203)gtC>gtT p.V401V CHD3_ENST00000330494.7_Silent_p.V342V|CHD3_ENST00000358181.4_Silent_p.V342V NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 342 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) ATGGCCCTGTCCGCACCAAGA 0.557000 20 4 0 0 0.189662 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86090557 86090557 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:86090557G>A ENST00000377332.3 - 2 242 c.134C>T c.(133-135)cCt>cTt p.P45L ST3GAL5_ENST00000393808.3_Missense_Mutation_p.P22L|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.P45L|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.P17L|ST3GAL5_ENST00000484728.1_5'UTR NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 45 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 TTGCAGGGAAGGCCTCGAGCA 0.498000 15 52 0 0 0.146539 0 0 OR10G8 219869 broad.mit.edu 37 11 123900527 123900527 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:123900527C>T ENST00000431524.1 + 1 231 c.198C>T c.(196-198)ttC>ttT p.F66F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACCTGTCGTTCATTGACATGT 0.542000 48 101 0 0 0.139131 0 0 MEPCE 56257 broad.mit.edu 37 7 100028615 100028615 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:100028615G>A ENST00000310512.2 + 1 1362 c.974G>A c.(973-975)aGg>aAg p.R325K MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 325 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATCAACTGCAGGGATGAAGTG 0.627000 78 110 0 0 0.139131 0 0 DENND5B 160518 broad.mit.edu 37 12 31540637 31540637 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:31540637C>G ENST00000389082.5 - 21 3989 c.3725G>C c.(3724-3726)cGa>cCa p.R1242P DENND5B_ENST00000536562.1_Missense_Mutation_p.R1277P|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1277P NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1242 RUN 2. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CATGCGGTCTCGCAGGAGAGC 0.498000 22 28 0 0 0.116897 0 0 SPEN 23013 broad.mit.edu 37 1 16261448 16261448 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:16261448G>A ENST00000375759.3 + 11 8917 c.8713G>A c.(8713-8715)Gat>Aat p.D2905N NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2905 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGTGAAGGCCGATAGGCCATC 0.577000 18 19 0 0 0.249174 0 0 SNHG14 104472715 broad.mit.edu 37 15 25470278 25470278 + RNA SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr15:25470278C>A ENST00000453082.2 + 0 1046 NR_003343.1 ACCCTGGTCTCCTGCACTGAG 0.562000 28 20 6.32553e-13 6.66343e-13 0.099896 1 0 SMC5 23137 broad.mit.edu 37 9 72879297 72879297 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:72879297G>C ENST00000361138.5 + 2 321 c.263G>C c.(262-264)aGc>aCc p.S88T NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 88 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 GGGAAGTCGAGCATTGTGTGT 0.373000 14 34 0 0 0.204396 0 0 BMPR2 659 broad.mit.edu 37 2 203397422 203397422 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:203397422G>C ENST00000374580.4 + 9 1782 c.1243G>C c.(1243-1245)Gag>Cag p.E415Q BMPR2_ENST00000374574.2_Missense_Mutation_p.E415Q NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 415 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 AATCTATTGGGAGATATTTAT 0.373000 23 19 0 0 0.125774 0 0 SLC35C2 51006 broad.mit.edu 37 20 44984459 44984459 + Silent SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:44984459G>T ENST00000372227.1 - 5 930 c.390C>A c.(388-390)atC>atA p.I130I SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000243896.2_Silent_p.I130I|SLC35C2_ENST00000543605.1_Silent_p.I159I|SLC35C2_ENST00000317734.8_Silent_p.I130I|SLC35C2_ENST00000372230.5_Silent_p.I130I NM_001281458.1|NM_001281460.1 NP_001268387.1|NP_001268389.1 Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 130 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) CCAGCTTGAAGATCAGAGAGA 0.517000 45 123 2.29192e-23 2.47246e-23 0.139131 1 0 SPTBN1 6711 broad.mit.edu 37 2 54882218 54882218 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:54882218C>G ENST00000333896.5 + 27 6180 c.5795C>G c.(5794-5796)tCt>tGt p.S1932C SPTBN1_ENST00000356805.4_Missense_Mutation_p.S1945C NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1945 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GATGTATCATCTGTTGAACTC 0.348000 10 11 0 0 0.069234 0 0 STK11IP 114790 broad.mit.edu 37 2 220470931 220470931 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:220470931G>C ENST00000456909.1 + 10 954 c.864G>C c.(862-864)ggG>ggC p.G288G STK11IP_ENST00000295641.10_Silent_p.G299G Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 299 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCTGGAGGGGAACCCTCTTT 0.632000 OREG0003992 type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 2 6 0 0 0.115264 0 0 PTAFR 5724 broad.mit.edu 37 1 28476921 28476921 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:28476921G>T ENST00000373857.3 - 2 1246 c.612C>A c.(610-612)ttC>ttA p.F204L PTAFR_ENST00000305392.3_Missense_Mutation_p.F204L|PTAFR_ENST00000539896.1_Missense_Mutation_p.F204L NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 204 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGTTGCAGAAGAGGATGA 0.567000 15 13 2.32078e-09 2.42404e-09 0.132662 1 0 ZNF846 162993 broad.mit.edu 37 19 9868234 9868234 + Nonsense_Mutation SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9868234C>A ENST00000397902.2 - 6 1932 c.1519G>T c.(1519-1521)Gaa>Taa p.E507* ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TTCTTACATTCATATGGTTTT 0.393000 42 81 3.39706e-21 3.65666e-21 0.139131 1 0 ABCC3 8714 broad.mit.edu 37 17 48750918 48750918 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:48750918G>A ENST00000285238.8 + 19 2578 c.2498G>A c.(2497-2499)gGc>gAc p.G833D NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 833 ABC transporter 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCTGAGATGGGCCCGTACCCA 0.602000 27 120 0 0 0.125774 0 0 WIPI1 55062 broad.mit.edu 37 17 66430741 66430741 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:66430741G>A ENST00000262139.5 - 7 647 c.648C>T c.(646-648)gtC>gtT p.V216V WIPI1_ENST00000546360.1_Silent_p.V134V|WIPI1_ENST00000589459.1_5'UTR NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 216 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 GCCCATCAGGGACAGAGAACA 0.488000 24 36 0 0 0.144211 0 0 DNMT1 1786 broad.mit.edu 37 19 10266565 10266565 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:10266565C>T ENST00000340748.4 - 18 1643 c.1408G>A c.(1408-1410)Gat>Aat p.D470N DNMT1_ENST00000540357.1_Missense_Mutation_p.D470N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D486N P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 470 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCACCTCCATCAAAGCCAGTG 0.502000 10 16 0 0 0.105934 0 0 KDM6A 7403 broad.mit.edu 37 X 44894182 44894182 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:44894182C>T ENST00000377967.4 + 7 612 c.571C>T c.(571-573)Cag>Tag p.Q191* KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q191*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q191*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q191* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 191 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(12)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GCAGCATTTTCAGTTAGCTTT 0.343000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 49 2 0 0 0.139131 0 0 KLHL6 89857 broad.mit.edu 37 3 183273151 183273151 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:183273151G>T ENST00000341319.3 - 1 326 c.291C>A c.(289-291)ttC>ttA p.F97L NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 97 BTB. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) ATGCTGACCTGAAATAGTTGC 0.502000 43 72 2.01807e-28 2.19627e-28 0.139131 1 0 OR5L2 26338 broad.mit.edu 37 11 55594854 55594854 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:55594854C>T ENST00000378397.1 + 1 160 c.160C>T c.(160-162)Cgg>Tgg p.R54W NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R54G(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) GGTCAGCTCTCGGCTCCACAC 0.473000 HNSCC(27;0.073) 144 59 0 0 0.139131 0 0 RYR2 6262 broad.mit.edu 37 1 237806719 237806719 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:237806719C>T ENST00000366574.2 + 48 7631 c.7314C>T c.(7312-7314)atC>atT p.I2438I RYR2_ENST00000360064.6_Silent_p.I2436I|RYR2_ENST00000542537.1_Silent_p.I2422I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2438 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 p.I2436M(1) 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) TTATCAGCATCGCTTTTCAGA 0.438000 42 34 0 0 0.124865 0 0 FNBP4 23360 broad.mit.edu 37 11 47767859 47767859 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:47767859C>G ENST00000263773.5 - 7 1006 c.994G>C c.(994-996)Gag>Cag p.E332Q FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 332 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TTTATTCCCTCAGGCAATAAA 0.398000 13 14 0 0 0.105934 0 0 IGLV8-61 28774 broad.mit.edu 37 22 22453585 22453585 + RNA SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:22453585G>C ENST00000390283.2 + 0 377 TGATGAATCTGATTATTACTG 0.468000 38 50 0 0 0.139131 0 0 KIAA0141 9812 broad.mit.edu 37 5 141314121 141314121 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:141314121G>A ENST00000432126.2 + 10 1253 c.1119G>A c.(1117-1119)gtG>gtA p.V373V KIAA0141_ENST00000194118.4_Silent_p.V373V NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 373 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGAGCTGTGAAATATCTTT 0.507000 65 31 0 0 0.139131 0 0 PAPOLA 10914 broad.mit.edu 37 14 96991650 96991650 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:96991650C>G ENST00000216277.8 + 4 473 c.253C>G c.(253-255)Ctt>Gtt p.L85V PAPOLA_ENST00000554130.1_Intron|PAPOLA_ENST00000557471.1_Missense_Mutation_p.L85V|PAPOLA_ENST00000392990.2_Missense_Mutation_p.L85V|PAPOLA_ENST00000557320.1_Missense_Mutation_p.L85V NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 85 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TCAACAGAATCTTCCACAATC 0.333000 15 31 0 0 0.219247 0 0 SERPIND1 3053 broad.mit.edu 37 22 21133814 21133814 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:21133814G>C ENST00000215727.5 + 2 497 c.214G>C c.(214-216)Gag>Cag p.E72Q PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E72Q NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 72 Chemotactic activity. blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CTGGATTCCAGAGGGGGAGGA 0.517000 23 42 0 0 0.125774 0 0 GDPD1 284161 broad.mit.edu 37 17 57335175 57335175 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:57335175G>C ENST00000284116.4 + 6 687 c.550G>C c.(550-552)Gaa>Caa p.E184Q GDPD1_ENST00000581140.1_Missense_Mutation_p.E184Q|GDPD1_ENST00000581276.1_Missense_Mutation_p.E184Q NM_182569.3 NP_872375.2 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain containing 1 184 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TGCCAATTATGAAATTGTAGA 0.323000 40 54 0 0 0.139131 0 0 ESPNP 284729 broad.mit.edu 37 1 17046617 17046617 + RNA SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:17046617C>T ENST00000492551.1 - 0 35 NR_026567.1 AGCGGGCAGTCAGATGCAAGA 0.622000 6 144 0 0 0.047766 0 0 CYP4F12 66002 broad.mit.edu 37 19 15806821 15806821 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:15806821C>T ENST00000550308.1 + 10 1571 c.1191C>T c.(1189-1191)ttC>ttT p.F397F CYP4F12_ENST00000324632.10_Silent_p.F397F NM_023944.3 NP_076433 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CAGCTCCCTTCATCTCCCGAT 0.617000 48 64 0 0 0.139131 0 0 TMEM231 79583 broad.mit.edu 37 16 75579280 75579280 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:75579280C>T ENST00000568377.1 - 3 677 c.639G>A c.(637-639)ctG>ctA p.L213L TMEM231_ENST00000258173.6_Silent_p.L184L|TMEM231_ENST00000569294.1_5'UTR|TMEM231_ENST00000565067.1_Intron|RP11-77K12.7_ENST00000460606.1_Silent_p.*16*|RP11-77K12.8_ENST00000564489.1_RNA NM_001077416.1 NP_001070884 Q9H6L2 TM231_HUMAN transmembrane protein 231 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 CACCACAGCTCAGCGGCTGCT 0.517000 46 72 0 0 0.139131 0 0 DBF4 10926 broad.mit.edu 37 7 87529618 87529618 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:87529618G>A ENST00000265728.1 + 9 1267 c.763G>A c.(763-765)Gta>Ata p.V255I NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 255 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) TCCATTTGATGTAGACAAGCC 0.323000 26 28 0 0 0.153744 0 0 AKAP9 10142 broad.mit.edu 37 7 91736731 91736731 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:91736731G>C ENST00000359028.2 + 48 11778 c.11553G>C c.(11551-11553)caG>caC p.Q3851H AKAP9_ENST00000358100.2_Missense_Mutation_p.Q3797H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q3847H Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3851 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) TACCATTTCAGAATAGGTAAG 0.363000 T BRAF papillary thyroid 24 19 0 0 0.134883 0 0 RNF11 26994 broad.mit.edu 37 1 51736896 51736896 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:51736896C>T ENST00000242719.3 + 3 853 c.367C>T c.(367-369)Ctg>Ttg p.L123L RNF11_ENST00000494873.1_3'UTR NM_014372.4 NP_055187.1 Q9Y3C5 RNF11_HUMAN ring finger protein 11 123 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex DNA binding|protein binding|zinc ion binding p.0?(2) large_intestine(1) 1 CATCTATCACCTGGACTGTAT 0.473000 27 168 0 0 0.173368 0 0 ASAP1 50807 broad.mit.edu 37 8 131138243 131138243 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:131138243G>A ENST00000357668.1 - 16 1501 c.1474C>T c.(1474-1476)Cag>Tag p.Q492* ASAP1_ENST00000518721.1_Nonsense_Mutation_p.Q492* Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 492 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 TCCAAAGACTGAATGCGAGAA 0.383000 33 48 0 0 0.214465 0 0 RHOBTB3 22836 broad.mit.edu 37 5 95067677 95067677 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:95067677G>C ENST00000379982.3 + 2 625 c.117G>C c.(115-117)gaG>gaC p.E39D CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.E39D NM_014899.3 NP_055714.3 O94955 RHBT3_HUMAN Rho-related BTB domain containing 3 39 Rho-like. retrograde transport, endosome to Golgi Golgi apparatus ATP binding|ATPase activity|Rab GTPase binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1) 16 all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.79e-16) CCGGGGACGAGAGCAGCTTGT 0.637000 18 42 0 0 0.234183 0 0 CYP4F12 66002 broad.mit.edu 37 19 15807291 15807291 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:15807291C>G ENST00000550308.1 + 12 1746 c.1366C>G c.(1366-1368)Ctg>Gtg p.L456V CYP4F12_ENST00000324632.10_Missense_Mutation_p.L456V NM_023944.3 NP_076433 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GAGGTCACCTCTGGCTTTTAT 0.557000 63 99 0 0 0.139131 0 0 GGNBP2 79893 broad.mit.edu 37 17 34910697 34910697 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:34910697G>A ENST00000304718.4 + 3 446 c.130G>A c.(130-132)Gat>Aat p.D44N NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 44 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GTTAAATCTCGATGGACATCA 0.348000 69 94 0 0 0.139131 0 0 ZNF320 162967 broad.mit.edu 37 19 53384365 53384365 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:53384365G>A ENST00000595635.1 - 8 1515 c.1014C>T c.(1012-1014)ttC>ttT p.F338F ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Silent_p.F338F|ZNF320_ENST00000600930.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) ATTTGCGACTGAAAACTTTGT 0.423000 36 36 0 0 0.225048 0 0 SPIB 6689 broad.mit.edu 37 19 50926888 50926888 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:50926888G>A ENST00000599632.1 + 9 769 c.769G>A c.(769-771)Gta>Ata p.V257I SPIB_ENST00000595883.1_Silent_p.P122P|SPIB_ENST00000596074.1_Missense_Mutation_p.V51I|SPIB_ENST00000597855.1_Intron|SPIB_ENST00000439922.2_Silent_p.P31P|SPIB_ENST00000270632.7_Silent_p.P122P 0 CATATGCCCCGTACCCCAGCC 0.647000 22 29 0 0 0.144211 0 0 HINFP 25988 broad.mit.edu 37 11 119003647 119003647 + Nonsense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:119003647G>T ENST00000350777.2 + 8 1012 c.949G>T c.(949-951)Gag>Tag p.E317* HINFP_ENST00000527410.1_Nonsense_Mutation_p.E317* NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 317 DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GTGTGATTTTGAGAACTGCAC 0.517000 19 42 1.00905e-13 1.06751e-13 0.204396 1 0 OTOP1 133060 broad.mit.edu 37 4 4199404 4199404 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:4199404G>A ENST00000296358.4 - 5 1181 c.1157C>T c.(1156-1158)gCc>gTc p.A386V NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 386 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAGTTTGCGGGCCGGATTTTT 0.592000 31 39 0 0 0.225048 0 0 ZNF649 65251 broad.mit.edu 37 19 52394736 52394736 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:52394736T>C ENST00000354957.3 - 5 937 c.653A>G c.(652-654)aAg>aGg p.K218R CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Splice_Site_p.K218R NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) GAGCCTGTACTTCTTGTAGAA 0.483000 3 60 0 0 0.115264 0 0 TMBIM4 51643 broad.mit.edu 37 12 66531814 66531814 + Missense_Mutation SNP T T C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:66531814T>C ENST00000358230.3 - 7 763 c.643A>G c.(643-645)Atc>Gtc p.I215V TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.I262V|TMBIM4_ENST00000542724.1_Missense_Mutation_p.I184V|TMBIM4_ENST00000544599.1_Missense_Mutation_p.I38V NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 215 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TAGAGGCTGATGGCAGCTAAT 0.418000 35 80 0 0 0.139131 0 0 RBM19 9904 broad.mit.edu 37 12 114392942 114392942 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:114392942G>A ENST00000545145.2 - 7 993 c.915C>T c.(913-915)gtC>gtT p.V305V RBM19_ENST00000392561.3_Silent_p.V305V|RBM19_ENST00000261741.5_Silent_p.V305V NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 305 RRM 2. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) ATACCTCTGTGACATTGAACG 0.572000 4 155 0 0 0.217242 0 0 MKKS 8195 broad.mit.edu 37 20 10389350 10389350 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:10389350G>A ENST00000347364.3 - 4 1849 c.1087C>T c.(1087-1089)Ctt>Ttt p.L363F MKKS_ENST00000399054.2_Missense_Mutation_p.L363F NM_170784.2 NP_740754.1 Q9NPJ1 MKKS_HUMAN McKusick-Kaufman syndrome Substrate-binding apical domain. brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development cytosol|microtubule organizing center|motile cilium ATP binding|unfolded protein binding kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2) 16 TTAGGAATAAGATGAAAAAAA 0.398000 23 32 0 0 0.264190 0 0 PAN2 9924 broad.mit.edu 37 12 56717846 56717846 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:56717846G>C ENST00000425394.2 - 13 2428 c.2052C>G c.(2050-2052)ctC>ctG p.L684L PAN2_ENST00000257931.5_Silent_p.L683L|PAN2_ENST00000548043.1_Silent_p.L684L|PAN2_ENST00000440411.3_Silent_p.L684L NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 684 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CAGGGTAGGAGAGTGTGAAAA 0.532000 99 80 0 0 0.139131 0 0 ARVCF 421 broad.mit.edu 37 22 19961739 19961739 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr22:19961739C>T ENST00000263207.3 - 12 2275 c.1984G>A c.(1984-1986)Gag>Aag p.E662K ARVCF_ENST00000406522.1_Missense_Mutation_p.E593K|ARVCF_ENST00000406259.1_Missense_Mutation_p.E656K|ARVCF_ENST00000401994.1_Missense_Mutation_p.E599K|ARVCF_ENST00000344269.3_Missense_Mutation_p.E599K NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 662 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) CGTACCACCTCGGGCTGGTAC 0.632000 15 16 0 0 0.175082 0 0 USP34 9736 broad.mit.edu 37 2 61575533 61575533 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:61575533C>G ENST00000398571.2 - 15 1833 c.1757G>C c.(1756-1758)aGt>aCt p.S586T NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 586 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) AGATCCATCACTATGCCCACT 0.483000 3 196 0 0 0.150653 0 0 PROCA1 147011 broad.mit.edu 37 17 27038664 27038664 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:27038664C>T ENST00000301039.2 - 1 208 c.15G>A c.(13-15)acG>acA p.T5T PROCA1_ENST00000581289.1_Silent_p.T5T NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 5 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TTGTGAGCGTCGTCCTGACCC 0.637000 37 39 0 0 0.225048 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671645 112671645 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:112671645C>G ENST00000441065.2 + 3 1047 c.735C>G c.(733-735)ttC>ttG p.F245L NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 245 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) GTCCATTCTTCTGTCTTGAGC 0.438000 28 19 0 0 0.193644 0 0 NLRP12 91662 broad.mit.edu 37 19 54313767 54313767 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:54313767C>T ENST00000324134.6 - 3 1314 c.1146G>A c.(1144-1146)gaG>gaA p.E382E NLRP12_ENST00000535162.1_Silent_p.E382E|NLRP12_ENST00000351894.4_Silent_p.E382E|NLRP12_ENST00000391772.1_Silent_p.E382E|NLRP12_ENST00000391773.1_Silent_p.E382E|NLRP12_ENST00000354278.3_Silent_p.E382E|NLRP12_ENST00000391775.3_Silent_p.E382E|NLRP12_ENST00000345770.5_Silent_p.E382E NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 382 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGCCCGCCTGCTCTGCATTGT 0.562000 104 184 0 0 0.139131 0 0 NSFL1C 55968 broad.mit.edu 37 20 1433191 1433191 + Silent SNP C C A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:1433191C>A ENST00000216879.4 - 7 1599 c.732G>T c.(730-732)gtG>gtT p.V244V NSFL1C_ENST00000381658.4_Silent_p.V133V|NSFL1C_ENST00000350991.4_Silent_p.V246V|NSFL1C_ENST00000476071.1_Silent_p.V246V|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Silent_p.V213V NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 244 SEP. chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 CTTTGGGCTTCACAAAGTCCT 0.567000 79 84 2.1089e-46 2.31557e-46 0.139131 1 0 PPL 5493 broad.mit.edu 37 16 4938143 4938143 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:4938143C>T ENST00000345988.2 - 20 2563 c.2474G>A c.(2473-2475)aGa>aAa p.R825K PPL_ENST00000590782.2_Missense_Mutation_p.R823K NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 825 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GAGCCTGGCTCTCTTGCTCAC 0.562000 41 41 0 0 0.139131 0 0 ROBO2 6092 broad.mit.edu 37 3 77623749 77623749 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:77623749G>T ENST00000461745.1 + 14 2971 c.2071G>T c.(2071-2073)Gtc>Ttc p.V691F ROBO2_ENST00000332191.8_Missense_Mutation_p.V691F|ROBO2_ENST00000487694.3_Missense_Mutation_p.V707F NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 691 Fibronectin type-III 2. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGATGCCAAAGTCCCGACTGA 0.458000 3 92 0.004672 0.00476873 0.115264 1 0 FOXK2 3607 broad.mit.edu 37 17 80478010 80478010 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:80478010C>T ENST00000335255.5 + 1 420 c.246C>T c.(244-246)atC>atT p.I82I NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 82 FHA.|Gly-rich. AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) ACCTCGAGATCTTCAcgcccc 0.731000 27 20 0 0 0.163468 0 0 CAAP1 79886 broad.mit.edu 37 9 26884835 26884835 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:26884835G>A ENST00000333916.5 - 4 726 c.638C>T c.(637-639)tCt>tTt p.S213F CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000535437.1_Missense_Mutation_p.S68F|CAAP1_ENST00000495958.1_5'UTR NM_001167575.1|NM_024828.3 NP_001161047.1|NP_079104.3 Q9H8G2 CI082_HUMAN caspase activity and apoptosis inhibitor 1 213 TCCCATCTTAGAACCATCATC 0.294000 74 11 0 0 0.139131 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665898 8665898 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:8665898C>G ENST00000270328.4 - 5 990 c.724G>C c.(724-726)Gag>Cag p.E242Q ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E242Q Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 242 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 ACCAGGGTCTCCACGTAGCGC 0.622000 45 60 0 0 0.139131 0 0 DNAAF3 352909 broad.mit.edu 37 19 55673126 55673126 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:55673126G>A ENST00000527223.2 - 6 753 c.752C>T c.(751-753)gCg>gTg p.A251V CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.A230V|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A129V|DNAAF3_ENST00000524407.2_Missense_Mutation_p.A183V NM_001256714.1 NP_001243643 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 183 CATGGGGAACGCCTGGGGCCC 0.711000 4 1 0 0 0.184627 0 0 HRC 3270 broad.mit.edu 37 19 49657096 49657096 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:49657096C>G ENST00000252825.4 - 1 1585 c.1399G>C c.(1399-1401)Gga>Cga p.G467R HRC_ENST00000595625.1_Missense_Mutation_p.G467R NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 467 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) ACTGTGTGTCCTGGGGGGTGA 0.547000 33 58 0 0 0.268233 0 0 MUC16 94025 broad.mit.edu 37 19 9082810 9082810 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9082810G>A ENST00000397910.4 - 1 9208 c.9005C>T c.(9004-9006)tCa>tTa p.S3002L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3003 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTCATAGCTGATGATGCCTT 0.507000 50 55 0 0 0.139131 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241516112 241516112 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:241516112C>G ENST00000270357.4 + 9 1571 c.978C>G c.(976-978)atC>atG p.I326M RNPEPL1_ENST00000464550.1_3'UTR NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CCATTGACATCTCCAAGTGGA 0.672000 48 30 0 0 0.139131 0 0 PSIP1 11168 broad.mit.edu 37 9 15472667 15472667 + Nonsense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr9:15472667G>A ENST00000380733.4 - 10 1283 c.940C>T c.(940-942)Cga>Tga p.R314* PSIP1_ENST00000380715.1_Nonsense_Mutation_p.R314*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.R314*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.R314*|PSIP1_ENST00000380716.4_Nonsense_Mutation_p.R314* O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 314 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) TTGCGTTTTCGATCTGCTGCT 0.363000 32 5 0 0 0.214465 0 0 AHNAK 79026 broad.mit.edu 37 11 62295516 62295516 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:62295516G>T ENST00000378024.4 - 5 6647 c.6373C>A c.(6373-6375)Cac>Aac p.H2125N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2125 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCTTTCAAGTGTAAGTCCACA 0.522000 5 240 0.00198382 0.00202909 0.248553 1 0 PRDX2 7001 broad.mit.edu 37 19 12911854 12911854 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:12911854G>C ENST00000301522.2 - 3 261 c.133C>G c.(133-135)Ctg>Gtg p.L45V PRDX2_ENST00000435703.1_Missense_Mutation_p.L45V|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Missense_Mutation_p.L45V NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 45 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 GTGAAGTCCAGAGGGTAGAAA 0.602000 20 25 0 0 0.249174 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81072474 81072474 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:81072474G>A ENST00000334512.5 + 25 3744 c.3172G>A c.(3172-3174)Gat>Aat p.D1058N ZMIZ1_ENST00000446377.2_Missense_Mutation_p.D124N NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1058 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CAATAGTAACGATGACCTCCT 0.537000 54 104 0 0 0.139131 0 0 MSH3 4437 broad.mit.edu 37 5 80063775 80063775 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr5:80063775G>C ENST00000265081.6 + 14 2000 c.1920G>C c.(1918-1920)ttG>ttC p.L640F NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 640 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) AGTTCTTCTTGATTGTCAAAA 0.303000 Mismatch excision repair (MMR) 8 27 0 0 0.069234 0 0 RYR2 6262 broad.mit.edu 37 1 237947553 237947553 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:237947553G>A ENST00000366574.2 + 90 12858 c.12541G>A c.(12541-12543)Gga>Aga p.G4181R RYR2_ENST00000360064.6_Missense_Mutation_p.G4187R|RYR2_ENST00000542537.1_Missense_Mutation_p.G4165R|RYR2_ENST00000609119.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4181 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) CAACGAAGGCGGAGAGAAAGA 0.502000 6 76 0 0 0.038147 0 0 TAP1 6890 broad.mit.edu 37 6 32821186 32821186 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:32821186G>A ENST00000354258.4 - 1 569 c.408C>T c.(406-408)ctC>ctT p.L136L PSMB9_ENST00000395330.1_Intron NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 136 antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 CCGTTGCCCTGAGGACCCCGC 0.697000 5 10 0 0 0.217242 0 0 CORO6 84940 broad.mit.edu 37 17 27946116 27946116 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:27946116G>C ENST00000345068.5 - 4 626 c.413C>G c.(412-414)tCc>tGc p.S138C CORO6_ENST00000580212.1_Missense_Mutation_p.S138C|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.S138C|CORO6_ENST00000584969.1_Missense_Mutation_p.S138C|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000445145.2_Missense_Mutation_p.S138C Q6QEF8 CORO6_HUMAN coronin 6 138 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 AGGGTGCCAGGAGAGGATGCC 0.597000 26 31 0 0 0.091800 0 0 ZNF559 84527 broad.mit.edu 37 19 9453579 9453579 + Missense_Mutation SNP G G T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9453579G>T ENST00000393883.2 + 6 2100 c.1452G>T c.(1450-1452)atG>atT p.M484I ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.M548I|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.M484I|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.M404I NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 484 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 CAGTACACATGAGAACTCACA 0.433000 28 29 4.3181e-19 4.60784e-19 0.173368 1 0 ENTPD4 9583 broad.mit.edu 37 8 23290508 23290508 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:23290508C>T ENST00000358689.4 - 13 2017 c.1782G>A c.(1780-1782)cgG>cgA p.R594R ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.R586R NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 594 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) CCGAGCTGCTCCGGGGAGTGC 0.647000 22 27 0 0 0.083992 0 0 CYP27C1 339761 broad.mit.edu 37 2 127951379 127951379 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:127951379G>C ENST00000335247.7 - 6 914 c.784C>G c.(784-786)Ctg>Gtg p.L262V CYP27C1_ENST00000409327.1_Missense_Mutation_p.L262V NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 262 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) TTCGGAATCAGATACCCGCCA 0.597000 26 24 0 0 0.099896 0 0 TBC1D14 57533 broad.mit.edu 37 4 6969065 6969065 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:6969065G>C ENST00000409757.4 + 3 881 c.757G>C c.(757-759)Gac>Cac p.D253H TBC1D14_ENST00000410031.1_Missense_Mutation_p.D25H|TBC1D14_ENST00000448507.1_Missense_Mutation_p.D253H NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 253 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 TGCAAGGCTTGACAAACACAA 0.413000 8 136 0 0 0.069234 0 0 SACS 26278 broad.mit.edu 37 13 23915753 23915753 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr13:23915753G>A ENST00000382298.3 - 10 2850 c.2262C>T c.(2260-2262)ttC>ttT p.F754F SACS_ENST00000382292.3_Silent_p.F754F|SACS_ENST00000402364.1_Silent_p.F4F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 754 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGCCAGGCCAGAATGTATTCA 0.373000 31 52 0 0 0.111260 0 0 ZMYM4 9202 broad.mit.edu 37 1 35851047 35851047 + Nonsense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:35851047C>G ENST00000314607.6 + 10 1654 c.1574C>G c.(1573-1575)tCa>tGa p.S525* ZMYM4_ENST00000373297.2_Intron NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 525 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TAATAGAAATCAGCCAAAATT 0.318000 29 50 0 0 0.111260 0 0 MALAT1 378938 broad.mit.edu 37 11 65268331 65268331 + RNA SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:65268331G>A ENST00000534336.1 + 0 3099 NR_002819.2 GTTTCGTACTGAGGTGTAAAG 0.383000 8 6 0 0 0.069234 0 0 ATG3 64422 broad.mit.edu 37 3 112255401 112255401 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:112255401C>G ENST00000402314.2 - 10 1102 c.715G>C c.(715-717)Gat>Cat p.D239H ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.D239H NM_001278712.1 NP_001265641.1 Q9NT62 ATG3_HUMAN autophagy related 3 239 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 TTCACATGATCCTGACTGATG 0.428000 35 50 0 0 0.193644 0 0 DDR2 4921 broad.mit.edu 37 1 162745932 162745932 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:162745932C>G ENST00000367922.3 + 17 2493 c.2055C>G c.(2053-2055)acC>acG p.T685T DDR2_ENST00000367921.3_Silent_p.T685T NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TCAGTTACACCAATCTGAAGT 0.413000 231 61 0 0 0.139131 0 0 FNDC7 163479 broad.mit.edu 37 1 109271379 109271379 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:109271379C>T ENST00000370017.3 + 8 1772 c.1495C>T c.(1495-1497)Cag>Tag p.Q499* FNDC7_ENST00000271311.2_Nonsense_Mutation_p.Q500* NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 500 Fibronectin type-III 6. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGGACTGTATCAGTGCAGCAG 0.542000 30 40 0 0 0.225048 0 0 C12orf60 144608 broad.mit.edu 37 12 14975926 14975926 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:14975926C>T ENST00000330828.2 + 2 261 c.57C>T c.(55-57)ttC>ttT p.F19F C12orf60_ENST00000527783.1_Intron NM_175874.3 NP_787070.2 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 CCAAAATGTTCTTCTTTCATG 0.368000 27 48 0 0 0.116897 0 0 ZNF846 162993 broad.mit.edu 37 19 9869338 9869338 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9869338C>T ENST00000397902.2 - 6 828 c.415G>A c.(415-417)Gag>Aag p.E139K ZNF846_ENST00000588267.1_Missense_Mutation_p.E10K|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.E10K NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 GAAGTTTTCTCTCCAATGTGA 0.378000 27 47 0 0 0.144211 0 0 SYMPK 8189 broad.mit.edu 37 19 46328437 46328437 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:46328437C>T ENST00000245934.7 - 18 2726 c.2482G>A c.(2482-2484)Gag>Aag p.E828K NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 828 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) ACCGGCTGCTCAATGACCCTC 0.652000 56 68 0 0 0.139131 0 0 RTL1 388015 broad.mit.edu 37 14 101349286 101349286 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr14:101349286C>T ENST00000534062.1 - 1 1898 c.1840G>A c.(1840-1842)Gcg>Acg p.A614T NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 614 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCCCAAGGCGCGGTGGAGGGA 0.552000 11 29 0 0 0.080935 0 0 OR3A2 4995 broad.mit.edu 37 17 3181494 3181494 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:3181494C>T ENST00000408891.2 - 1 774 c.736G>A c.(736-738)Gcc>Acc p.A246T NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 246 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 GTGGAGAAGGCCTTCTTTCGG 0.517000 10 16 0 0 0.105934 0 0 EFCC1 79825 broad.mit.edu 37 3 128758636 128758636 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:128758636C>T ENST00000436022.2 + 8 1742 c.431C>T c.(430-432)tCg>tTg p.S144L EFCC1_ENST00000480450.1_Missense_Mutation_p.S581L NM_024768.2 NP_079044.2 EF-hand and coiled-coil domain containing 1 AGACAGCCCTCGGCACCAGCC 0.667000 56 48 0 0 0.139131 0 0 PTPN4 5775 broad.mit.edu 37 2 120712877 120712877 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr2:120712877G>C ENST00000263708.2 + 20 2729 c.1958G>C c.(1957-1959)gGa>gCa p.G653A PTPN4_ENST00000544261.1_Missense_Mutation_p.G286A NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 653 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) CTTATCACTGGAACAGTCCTG 0.398000 17 23 0 0 0.091800 0 0 EVA1B 55194 broad.mit.edu 37 1 36788636 36788636 + Translation_Start_Site SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:36788636C>T ENST00000270824.1 - 2 294 c.3G>A c.(1-3)atG>atA p.M1I SH3D21_ENST00000474766.1_Intron|EVA1B_ENST00000490466.1_5'UTR NM_018166.1 NP_060636.1 eva-1 homolog B (C. elegans) GCGGGGCATCCATGCTGCTCT 0.687000 37 44 0 0 0.131918 0 0 GABRE 2564 broad.mit.edu 37 X 151123200 151123200 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:151123200G>C ENST00000370328.3 - 9 1547 c.1494C>G c.(1492-1494)ctC>ctG p.L498L GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR NM_004961.3 NP_004952.2 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 498 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CAAGCCAGTAGAGCACATTGA 0.547000 11 3 0 0 0.080935 0 0 ZNF687 57592 broad.mit.edu 37 1 151261980 151261980 + Silent SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr1:151261980C>G ENST00000368879.2 + 5 2696 c.2598C>G c.(2596-2598)ctC>ctG p.L866L NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTCCTCTGCTCTTTGCCCAAA 0.547000 33 70 0 0 0.214465 0 0 TMEM156 80008 broad.mit.edu 37 4 39000395 39000395 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:39000395G>C ENST00000381938.3 - 2 330 c.223C>G c.(223-225)Cta>Gta p.L75V TMEM156_ENST00000372489.2_5'UTR NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 75 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 GAGGGATTTAGAAAGATTCTC 0.363000 18 13 0 0 0.091800 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66299177 66299177 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:66299177G>C ENST00000419755.3 + 16 1848 c.1770G>C c.(1768-1770)gaG>gaC p.E590D ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.E424D|BBS1_ENST00000455748.2_Missense_Mutation_p.E456D|BBS1_ENST00000318312.7_Missense_Mutation_p.E553D CCTTTGTGGAGAGTCTCAGTA 0.552000 61 99 0 0 0.139131 0 0 OR4C15 81309 broad.mit.edu 37 11 55322235 55322235 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:55322235G>A ENST00000314644.2 + 1 453 c.453G>A c.(451-453)atG>atA p.M151I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 AAGGCTGCATGATGCAGCTCT 0.483000 HNSCC(20;0.049) 42 66 0 0 0.111260 0 0 ZNF177 7730 broad.mit.edu 37 19 9492184 9492184 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:9492184G>C ENST00000541595.2 + 12 1326 c.697G>C c.(697-699)Gag>Cag p.E233Q ZNF177_ENST00000343499.4_Missense_Mutation_p.E233Q|ZNF177_ENST00000434737.2_Missense_Mutation_p.E393Q|ZNF177_ENST00000602738.1_Missense_Mutation_p.E233Q|ZNF177_ENST00000589262.1_Missense_Mutation_p.E393Q|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR NM_001172650.2 NP_001166121.1 Q13360 ZN177_HUMAN zinc finger protein 177 233 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 TCACACTGGAGAGAAGCCTTA 0.468000 55 101 0 0 0.139131 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291238 1291238 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr16:1291238G>C ENST00000461509.2 + 2 361 c.167G>C c.(166-168)aGa>aCa p.R56T TPSAB1_ENST00000338844.3_Missense_Mutation_p.R49T P20231 TRYB2_HUMAN tryptase alpha/beta 1 49 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) GTGAGCCTGAGAGTCCACGGC 0.706000 27 55 0 0 0.153744 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763619 77763619 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:77763619G>C ENST00000521891.2 + 10 4910 c.4462G>C c.(4462-4464)Gag>Cag p.E1488Q ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1462Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1443Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1443Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1443 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCAGGAAATGGAGAGAGAGTA 0.502000 HNSCC(33;0.089) 21 30 0 0 0.099896 0 0 IMPG1 3617 broad.mit.edu 37 6 76734920 76734920 + Missense_Mutation SNP T T A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:76734920T>A ENST00000369963.3 - 4 508 c.319A>T c.(319-321)Att>Ttt p.I107F IMPG1_ENST00000369950.3_Missense_Mutation_p.I185F Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 185 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.I185F(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) CCTGTTGAAATGACAATGGTT 0.323000 15 49 0 0 0.189662 0 0 ETV4 2118 broad.mit.edu 37 17 41606896 41606896 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:41606896C>T ENST00000319349.5 - 11 1402 c.1104G>A c.(1102-1104)gaG>gaA p.E368E ETV4_ENST00000545089.1_Silent_p.E314E|ETV4_ENST00000393664.2_Silent_p.E368E|ETV4_ENST00000545954.1_Silent_p.E329E|ETV4_ENST00000591713.1_Silent_p.E368E|ETV4_ENST00000586826.1_Silent_p.E91E|ETV4_ENST00000538265.1_Silent_p.E329E NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 368 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) TGAGCTTGAACTCCATTCCCC 0.587000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 28 38 0 0 0.134883 0 0 STAG2 10735 broad.mit.edu 37 X 123197011 123197011 + Nonsense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chrX:123197011C>T ENST00000371160.1 + 19 2067 c.1777C>T c.(1777-1779)Cag>Tag p.Q593* STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 593 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GCAGTTGCCTCAGTACTTTGA 0.279000 20 2 0 0 0.099896 0 0 CRHR1 1394 broad.mit.edu 37 17 43912040 43912040 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:43912040G>A ENST00000339069.5 + 13 1350 c.719G>A c.(718-720)cGa>cAa p.R240Q CRHR1_ENST00000293493.7_Silent_p.S211S|CRHR1_ENST00000398285.3_Silent_p.S415S|CRHR1_ENST00000352855.5_Silent_p.S346S|CRHR1_ENST00000577353.1_Silent_p.S372S|CRHR1_ENST00000314537.5_Silent_p.S386S P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 0 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) ACAAGCACTCGATCCGTGCCC 0.637000 55 58 0 0 0.139131 0 0 RRP1B 23076 broad.mit.edu 37 21 45093792 45093792 + Missense_Mutation SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:45093792G>A ENST00000340648.4 + 4 430 c.313G>A c.(313-315)Gaa>Aaa p.E105K NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 105 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) CATGAATCGAGAATGGAAAGG 0.408000 40 6 0 0 0.131918 0 0 KRT79 338785 broad.mit.edu 37 12 53227586 53227586 + Silent SNP G G A TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr12:53227586G>A ENST00000330553.5 - 1 493 c.459C>T c.(457-459)ttC>ttT p.F153F NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 153 Coil 1A.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGAAGGAGGCGAACTTGTTGT 0.607000 81 122 0 0 0.139131 0 0 CTCFL 140690 broad.mit.edu 37 20 56090809 56090809 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr20:56090809C>G ENST00000608263.1 - 5 1802 c.1141G>C c.(1141-1143)Gat>Cat p.D381H CTCFL_ENST00000243914.3_Missense_Mutation_p.D381H|CTCFL_ENST00000502686.2_Missense_Mutation_p.D119H|CTCFL_ENST00000539382.1_Missense_Mutation_p.D176H|CTCFL_ENST00000423479.3_Missense_Mutation_p.D381H|CTCFL_ENST00000433949.3_Missense_Mutation_p.D176H|CTCFL_ENST00000429804.3_Missense_Mutation_p.D381H|CTCFL_ENST00000422869.2_Missense_Mutation_p.D381H|CTCFL_ENST00000609232.1_Missense_Mutation_p.D381H|CTCFL_ENST00000608440.1_Missense_Mutation_p.D381H|CTCFL_ENST00000608903.1_Missense_Mutation_p.D119H|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608425.1_Missense_Mutation_p.D381H|CTCFL_ENST00000371196.2_Missense_Mutation_p.D381H|CTCFL_ENST00000432255.2_Intron NM_001269041.1 NP_001255970.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TTGTAGGTATCTCTGCTGGCA 0.478000 174 105 0 0 0.139131 0 0 NFKBIE 4794 broad.mit.edu 37 6 44233167 44233167 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr6:44233167C>G ENST00000275015.5 - 1 333 c.334G>C c.(334-336)Gac>Cac p.D112H NM_004556.2 NP_004547.2 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 112 cytoplasmic sequestering of transcription factor protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGTTGCGGGTCCGCTTGGCAG 0.786000 2 4 0 0 0.115264 0 0 IER2 9592 broad.mit.edu 37 19 13264409 13264409 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:13264409C>T ENST00000588173.1 + 1 1621 c.409C>T c.(409-411)Ccg>Tcg p.P137S CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Missense_Mutation_p.P137S|IER2_ENST00000587885.1_Missense_Mutation_p.P137S|CTC-250I14.6_ENST00000592882.1_RNA Q9BTL4 IER2_HUMAN immediate early response 2 137 kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) TGGACTGGTCCCGAGCAAGAA 0.687000 OREG0025291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 2 0 0 0.150653 0 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr21:11058248G>A ENST00000470054.1 - 0 399 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433000 4 133 0 0 0.184627 0 0 ZBTB38 253461 broad.mit.edu 37 3 141162438 141162438 + Missense_Mutation SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr3:141162438G>C ENST00000514251.1 + 4 1487 c.1208G>C c.(1207-1209)gGa>gCa p.G403A ZBTB38_ENST00000441582.2_Missense_Mutation_p.G403A|ZBTB38_ENST00000321464.5_Missense_Mutation_p.G404A Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 403 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 CCCATTCCTGGAGGAAACCAA 0.428000 47 51 0 0 0.139131 0 0 FGFR3 2261 broad.mit.edu 37 4 1808937 1808937 + Frame_Shift_Del DEL C C - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:1808937delC ENST00000340107.4 + 18 2631 c.2375delC c.(2374-2376)gccfs p.A792fs FGFR3_ENST00000481110.2_Frame_Shift_Del_p.C767fs|FGFR3_ENST00000352904.1_Frame_Shift_Del_p.A678fs|FGFR3_ENST00000260795.2_Frame_Shift_Del_p.A790fs|FGFR3_ENST00000412135.2_Frame_Shift_Del_p.A678fs|FGFR3_ENST00000440486.2_Frame_Shift_Del_p.A790fs NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 790 bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TCCGTGTTTGCCCACGACCTG 0.687 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 265 83 --- --- --- --- GBA3 57733 broad.mit.edu 37 4 22748956 22748956 + RNA DEL A A - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:22748956delA ENST00000511446.2 + 0 328 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATGATTTGTTAAAAAATGGGG 0.363 12 208 --- --- --- --- LNX1 84708 broad.mit.edu 37 4 54342918 54342918 + Splice_Site DEL A A - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr4:54342918delA ENST00000306888.2 - 8 1856 c.e8+1 FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Splice_Site NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) GTTTGGACTTACCGTGGTAAT 0.532 38 144 --- --- --- --- ELN 2006 broad.mit.edu 37 7 73477649 73477651 + In_Frame_Del DEL CCG CCG - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr7:73477649_73477651delCCG ENST00000252034.7 + 28 2267_2269 c.1868_1870delCCG c.(1867-1872)cccgcc>ccc p.A630del ELN_ENST00000320492.7_In_Frame_Del_p.A549del|ELN_ENST00000358929.4_In_Frame_Del_p.A698del|ELN_ENST00000458204.1_In_Frame_Del_p.A620del|ELN_ENST00000357036.5_In_Frame_Del_p.A635del|ELN_ENST00000414324.1_In_Frame_Del_p.A606del|ELN_ENST00000380553.4_In_Frame_Del_p.A494del|ELN_ENST00000380584.4_In_Frame_Del_p.A582del|ELN_ENST00000380575.4_In_Frame_Del_p.A601del|ELN_ENST00000380562.4_In_Frame_Del_p.A636del|ELN_ENST00000445912.1_In_Frame_Del_p.A630del|ELN_ENST00000380576.5_In_Frame_Del_p.A611del|ELN_ENST00000429192.1_In_Frame_Del_p.A616del|ELN_ENST00000320399.6_In_Frame_Del_p.A663del NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin 692 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) GGAGCCGGACccgccgccgccgc 0.680 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 2 4 --- --- --- --- MMP16 4325 broad.mit.edu 37 8 89339798 89339800 + RNA DEL CTC CTC - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:89339798_89339800delCTC ENST00000523254.1 + 0 357 gcactgcctactcctcctcctcc 0.734 2 4 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1257_1267delGGGGGTGCAAGGTGA c.(1255-1269)ctgggggtgcaaggt>ctgt p.GVQG420del NM_174922.3 NP_777582.4 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 420 integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 2 4 --- --- --- --- TAF3 83860 broad.mit.edu 37 10 8051117 8051128 + In_Frame_Del DEL GCCCCCGCGCCC GCCCCCGCGCCC - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr10:8051117_8051128delGCCCCCGCGCCC ENST00000344293.5 + 5 2598_2609 c.2392_2403delGCCCCCGCGCCC c.(2392-2403)gcccccgcgcccdel p.APAP798del NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 798 Pro-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding p.A800A(1) NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 cccaccgccggcccccgcgcccgcccccggcc 0.750 10 41 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)ttcdel p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 7 97 --- --- --- --- CASP5 838 broad.mit.edu 37 11 104879687 104879687 + Frame_Shift_Del DEL T T - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr11:104879687delT ENST00000393141.2 - 2 98 c.67delA c.(67-69)aggfs p.R24fs CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 11 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTCTTACGCCTTTTTTTTTTG 0.388 7 30 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577562 7577563 + Frame_Shift_Ins INS - - T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr17:7577562_7577563insT ENST00000420246.2 - 7 850_851 c.718_719insA c.(718-720)agtfs p.S240fs TP53_ENST00000445888.2_Frame_Shift_Ins_p.S240fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S240fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S240fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S240fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S240fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 240 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; 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.S240G(14)|p.0?(8)|p.S240I(6)|p.?(5)|p.N239_C242delNSSC(3)|p.M237_N239delMCN(3)|p.S240C(3)|p.N239_S240insX(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.H233_C242del10(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.S240R(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239_C242del(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) CATGCAGGAACTGTTACACATG 0.574 111 """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) 71 19 --- --- --- --- SALL3 27164 broad.mit.edu 37 18 76752223 76752223 + Frame_Shift_Del DEL C C - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr18:76752223delC ENST00000575389.2 + 2 232 c.232delC c.(232-234)cccfs p.P78fs SALL3_ENST00000537592.2_Frame_Shift_Del_p.P78fs|SALL3_ENST00000536229.3_5'UTR Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 78 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CAAGCTCCCGCCCGTGCTGAT 0.716 26 18 --- --- --- --- DAZAP1 26528 broad.mit.edu 37 19 1434776 1434776 + Frame_Shift_Del DEL C C - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:1434776delC ENST00000233078.4 + 12 1250 c.1089delC c.(1087-1089)ttcfs p.F363fs DAZAP1_ENST00000336761.6_3'UTR NM_018959.2 NP_061832.2 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 363 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACAGGGCTTCTCAGACCCCA 0.706 48 67 --- --- --- --- LRG1 116844 broad.mit.edu 37 19 4538453 4538453 + Frame_Shift_Del DEL G G - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:4538453delG ENST00000306390.6 - 2 1003 c.543delC c.(541-543)cccfs p.P181fs CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 181 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGCAGCCCGGGGGGCAGTT 0.622 7 264 --- --- --- --- CLASRP 11129 broad.mit.edu 37 19 45567607 45567609 + In_Frame_Del DEL CTC CTC - TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 92a59313-da12-4896-b164-fd2d50684638 f4a45c39-9014-43d9-a791-9fe0bb5155ba g.chr19:45567607_45567609delCTC ENST00000544944.2 + 12 1820_1822 c.1128_1130delCTC c.(1126-1131)cgctcc>cgc p.S385del CLASRP_ENST00000391953.4_In_Frame_Del_p.S323del|CLASRP_ENST00000221455.3_In_Frame_Del_p.S385del Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 385 Arg-rich.|Ser-rich. mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 GCAGCCGCCGctcctcctcctcc 0.744 4 9 --- --- --- ---