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 BNC2 54796 broad.mit.edu 37 9 16419530 16419530 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:16419530C>T ENST00000380672.4 - 7 2814 c.2757G>A c.(2755-2757)aaG>aaA p.K919K BNC2_ENST00000545497.1_Silent_p.K824K|BNC2_ENST00000380667.2_Silent_p.K852K NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 919 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CACCATATATCTTCACCAAAA 0.562000 13 67 0 0 0.002450 0 0 TBCE 6905 broad.mit.edu 37 1 235602230 235602230 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:235602230C>G ENST00000543662.1 + 14 1522 c.1416C>G c.(1414-1416)ctC>ctG p.L472L TBCE_ENST00000366601.3_Silent_p.L421L|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.L421L Q15813 TBCE_HUMAN tubulin folding cofactor E 421 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) ACCAGTTCCTCTGCCTGAGTA 0.473000 15 70 0 0 0.004007 0 0 C1orf110 339512 broad.mit.edu 37 1 162824590 162824590 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:162824590C>T ENST00000367910.1 - 4 994 c.874G>A c.(874-876)Gaa>Aaa p.E292K C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron NM_178550.4 NP_848645.3 Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 292 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 ACCCTGTTTTCACACTCCTTT 0.468000 21 72 0 0 0.002780 0 0 NCOA7 135112 broad.mit.edu 37 6 126249876 126249876 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:126249876G>A ENST00000368357.3 + 17 3140 c.2788G>A c.(2788-2790)Gac>Aac p.D930N NCOA7_ENST00000229634.9_Missense_Mutation_p.D815N|NCOA7_ENST00000392477.2_Missense_Mutation_p.D930N NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 930 TLD. cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CAAAAAGGAAGACTTCATAGT 0.393000 32 53 0 0 0.012213 0 0 UBE3C 9690 broad.mit.edu 37 7 156961752 156961752 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:156961752G>A ENST00000348165.5 + 3 491 c.131G>A c.(130-132)cGa>cAa p.R44Q UBE3C_ENST00000389103.4_Intron NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 44 Cis-determinant of acceptor ubiquitin- binding. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GAAGAAAGGCGAAGGTTGAAA 0.353000 6 84 0 0 0.001984 0 0 ZNF614 80110 broad.mit.edu 37 19 52520410 52520410 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:52520410C>A ENST00000270649.6 - 5 985 c.441G>T c.(439-441)aaG>aaT p.K147N ZNF614_ENST00000356322.6_Missense_Mutation_p.K147N NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CATGTCTTCTCTTCTGGTTGA 0.328000 4 41 0.00024832 0.000753498 0.009096 1 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 3 44 0 0 0.009096 0 0 TOP3B 8940 broad.mit.edu 37 22 22313516 22313516 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr22:22313516C>T ENST00000398793.2 - 16 2327 c.1893G>A c.(1891-1893)atG>atA p.M631I TOP3B_ENST00000357179.5_Missense_Mutation_p.M631I NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 631 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GGATGTACTTCATGAAGCGGT 0.572000 30 28 0 0 0.003271 0 0 PSG2 5670 broad.mit.edu 37 19 43570726 43570726 + Missense_Mutation SNP G G A rs1058470 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:43570726G>A ENST00000406487.1 - 5 1089 c.991C>T c.(991-993)Ctc>Ttc p.L331F NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 331 cell migration|female pregnancy extracellular region p.L331V(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GGATTAAGGAGAGGAAGAAGT 0.423000 16 76 0 0 0.006122 0 0 MBOAT7 79143 broad.mit.edu 37 19 54677887 54677887 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:54677887G>A ENST00000245615.1 - 8 1750 c.1270C>T c.(1270-1272)Cgg>Tgg p.R424W MBOAT7_ENST00000431666.2_Missense_Mutation_p.R351W|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R351W NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 424 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCCAGTACCGAAGGGTGTCG 0.647000 14 72 0 0 0.001855 0 0 MAT2A 4144 broad.mit.edu 37 2 85768265 85768265 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:85768265G>C ENST00000306434.3 + 2 274 c.151G>C c.(151-153)Gat>Cat p.D51H MAT2A_ENST00000409017.1_5'UTR NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 51 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GCAGGATCCTGATGCCAAAGT 0.378000 13 68 0 0 0.004007 0 0 DOCK5 80005 broad.mit.edu 37 8 25167972 25167972 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:25167972G>C ENST00000276440.7 + 13 1286 c.1242G>C c.(1240-1242)caG>caC p.Q414H NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 414 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CCCAGGTTCAGAAGAATTTTT 0.418000 4 59 0 0 0.000602 0 0 KDM5B 10765 broad.mit.edu 37 1 202701006 202701006 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:202701006G>A ENST00000367265.3 - 24 5135 c.3971C>T c.(3970-3972)tCa>tTa p.S1324L KDM5B_ENST00000367264.2_Missense_Mutation_p.S1360L NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1324 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.S1324L(1) breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 GTGCAAATATGAGGTTCTGTT 0.418000 5 68 0 0 0.001168 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96992465 96992465 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:96992465G>A ENST00000361124.4 + 1 531 c.120G>A c.(118-120)cgG>cgA p.R40R ITPRIPL1_ENST00000542887.1_Silent_p.R24R|ITPRIPL1_ENST00000536814.1_Silent_p.R24R|ITPRIPL1_ENST00000439118.2_Silent_p.R32R NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 32 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCAGTGATCGGATGGACCTGG 0.537000 8 70 0 0 0.004482 0 0 MYLK 4638 broad.mit.edu 37 3 123426701 123426701 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:123426701C>G ENST00000360772.3 - 17 2668 c.2290G>C c.(2290-2292)Gac>Cac p.D764H MYLK_ENST00000475616.1_Missense_Mutation_p.D764H|MYLK_ENST00000359169.1_Missense_Mutation_p.D764H|MYLK_ENST00000360304.3_Missense_Mutation_p.D764H|MYLK_ENST00000346322.5_Missense_Mutation_p.D695H Q15746 MYLK_HUMAN myosin light chain kinase 764 Ig-like C2-type 6. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGGCCAGTGTCTTTGCAGAGG 0.577000 6 59 0 0 0.001984 0 0 TLR9 54106 broad.mit.edu 37 3 52256149 52256149 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:52256149C>T ENST00000597542.1 - 9 3212 c.2255G>A c.(2254-2256)cGa>cAa p.R752Q TLR9_ENST00000360658.2_Missense_Mutation_p.R728Q|TLR9_ENST00000494383.1_Silent_p.A881A Q9NR96 TLR9_HUMAN toll-like receptor 9 728 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GTTGAGCTCTCGCAGCTCCTT 0.622000 8 76 0 0 0.003080 0 0 S100A8 6279 broad.mit.edu 37 1 153362596 153362596 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:153362596C>G ENST00000368733.3 - 3 434 c.265G>C c.(265-267)Gaa>Caa p.E89Q S100A8_ENST00000368732.1_Missense_Mutation_p.E89Q NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 89 VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390). chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TTGTGGCTTTCTTCATGGCTT 0.473000 4 164 0 0 0.009096 0 0 REPS2 9185 broad.mit.edu 37 X 17095461 17095461 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:17095461C>G ENST00000357277.3 + 13 1618 c.1447C>G c.(1447-1449)Cgg>Ggg p.R483G REPS2_ENST00000469714.1_Intron|REPS2_ENST00000380064.4_Intron|REPS2_ENST00000303843.7_Missense_Mutation_p.R482G NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 483 Pro-rich. epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) CCCGCCACCTCGGCCACAGAA 0.557000 22 173 0 0 0.012319 0 0 CACNG7 59284 broad.mit.edu 37 19 54445351 54445351 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:54445351G>A ENST00000391767.1 + 6 844 c.632G>A c.(631-633)cGt>cAt p.R211H CACNG7_ENST00000222212.2_Missense_Mutation_p.R211H P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 211 GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GAGATGTACCGTCCACACCCG 0.711000 11 25 0 0 0.008291 0 0 FBL 2091 broad.mit.edu 37 19 40331085 40331085 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:40331085C>G ENST00000221801.3 - 3 365 c.252G>C c.(250-252)aaG>aaC p.K84N NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 84 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) CCATCACATTCTTCCCCGACT 0.602000 4 230 0 0 0.000602 0 0 KDM5A 5927 broad.mit.edu 37 12 498114 498114 + Missense_Mutation SNP G G C rs117902138 by1000genomes TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:498114G>C ENST00000399788.2 - 1 506 c.144C>G c.(142-144)atC>atG p.I48M KDM5A_ENST00000382815.4_Missense_Mutation_p.I48M NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 48 JmjN. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 GAATTTTGCAGATGCCGGTTT 0.562000 T NUP98 AML 9 49 0 0 0.006214 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960010 33960010 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:33960010C>T ENST00000361328.3 + 8 2219 c.2066C>T c.(2065-2067)tCt>tTt p.S689F NM_145238.3 NP_660281 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 689 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CAAGAAAGTTCTTCTGAAGAG 0.463000 22 58 0 0 0.012319 0 0 ACTR3B 57180 broad.mit.edu 37 7 152549271 152549271 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:152549271G>A ENST00000256001.8 + 10 1146 c.1012G>A c.(1012-1014)Gat>Aat p.D338N ACTR3B_ENST00000397282.2_Missense_Mutation_p.D250N|ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000537264.1_Missense_Mutation_p.D250N NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 338 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) ACTGCAGAGGGATTTGAAGAG 0.597000 40 82 0 0 0.010771 0 0 LAMB2 3913 broad.mit.edu 37 3 49158946 49158946 + Missense_Mutation SNP G G T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:49158946G>T ENST00000418109.1 - 32 5344 c.5180C>A c.(5179-5181)gCa>gAa p.A1727E LAMB2_ENST00000305544.4_Missense_Mutation_p.A1727E NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1727 Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCTTGCCTGTGCAGCCAGCAC 0.607000 5 112 1.024e-07 3.17081e-07 0.000602 1 0 ZNF160 90338 broad.mit.edu 37 19 53572166 53572166 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:53572166C>G ENST00000601421.1 - 3 2389 c.1513G>C c.(1513-1515)Gaa>Caa p.E505Q ZNF160_ENST00000599056.1_Missense_Mutation_p.E541Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.E541Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.E541Q Q9HCG1 ZN160_HUMAN zinc finger protein 160 541 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TTGCCACATTCAATACATTTG 0.408000 7 95 0 0 0.001984 0 0 RB1CC1 9821 broad.mit.edu 37 8 53555298 53555298 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:53555298C>G ENST00000025008.5 - 17 4585 c.4062G>C c.(4060-4062)ttG>ttC p.L1354F RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L1354F|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L1354F NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1354 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TTGTACTTTTCAACTTATCAC 0.269000 3 38 0 0 0.004672 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420598 55420598 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:55420598G>C ENST00000242994.3 + 2 753 c.375G>C c.(373-375)aaG>aaC p.K125N NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 125 Helix-loop-helix motif. amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.K125K(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 AACTTTCCAAGATAGAGACTC 0.498000 9 48 0 0 0.008291 0 0 BCS1L 617 broad.mit.edu 37 2 219528005 219528005 + Nonsense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:219528005C>T ENST00000431802.1 + 8 1855 c.1156C>T c.(1156-1158)Cga>Tga p.R386* BCS1L_ENST00000392109.1_Nonsense_Mutation_p.R386*|BCS1L_ENST00000392110.2_Nonsense_Mutation_p.R386*|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000439945.1_Nonsense_Mutation_p.R386*|BCS1L_ENST00000412366.1_Nonsense_Mutation_p.R386*|BCS1L_ENST00000392111.2_Nonsense_Mutation_p.R386*|BCS1L_ENST00000359273.3_Nonsense_Mutation_p.R386* Q9Y276 BCS1_HUMAN BC1 (ubiquinol-cytochrome c reductase) synthesis-like 386 mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly integral to membrane|mitochondrial respiratory chain complex III ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 8 Renal(207;0.0474) Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACATGTCCTTCGAGCTACAAA 0.522000 4 53 0 0 0.000602 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47364623 47364623 + RNA SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:47364623C>G ENST00000505841.1 - 0 213 NR_002788.2 TCCATCAGCTCAGGATACACC 0.443000 9 84 0 0 0.006214 0 0 KIAA1429 25962 broad.mit.edu 37 8 95518765 95518765 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:95518765G>C ENST00000297591.5 - 16 4135 c.4060C>G c.(4060-4062)Ctt>Gtt p.L1354V KIAA1429_ENST00000437199.1_Missense_Mutation_p.L1354V NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1354 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TGCTCTGCAAGAAACATCATT 0.343000 4 76 0 0 0.009096 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 4 63 0 0 0.000602 0 0 BSN 8927 broad.mit.edu 37 3 49691394 49691394 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:49691394G>A ENST00000296452.4 + 5 4519 c.4405G>A c.(4405-4407)Gca>Aca p.A1469T NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1469 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCCTTCCCGGGCATATTCCTA 0.632000 4 128 0 0 0.009096 0 0 SH2B1 25970 broad.mit.edu 37 16 28884863 28884863 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:28884863G>A ENST00000322610.8 + 11 2432 c.1993G>A c.(1993-1995)Gaa>Aaa p.E665K SH2B1_ENST00000395532.4_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000337120.5_3'UTR Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 665 blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 GAGGGCGCCAGAAGTGGCGGC 0.657000 4 8 0 0 0.009096 0 0 ABCG5 64240 broad.mit.edu 37 2 44040381 44040381 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:44040381C>T ENST00000543989.1 - 9 2350 c.645G>A c.(643-645)gaG>gaA p.E215E ABCG5_ENST00000260645.1_Silent_p.E610E|ABCG5_ENST00000405322.1_Silent_p.E439E Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 610 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GGCAGGTTTTCTCAATGAATT 0.383000 5 20 0 0 0.000602 0 0 SYTL5 94122 broad.mit.edu 37 X 37965932 37965932 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:37965932C>G ENST00000357972.5 + 11 1788 c.1242C>G c.(1240-1242)atC>atG p.I414M TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.I414M|SYTL5_ENST00000456733.2_Missense_Mutation_p.I436M Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 414 C2 1. intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 TTCTCCATATCAGCTACTGCT 0.438000 4 88 0 0 0.009096 0 0 RASSF3 283349 broad.mit.edu 37 12 65082182 65082182 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:65082182G>A ENST00000542104.1 + 3 526 c.406G>A c.(406-408)Gag>Aag p.E136K RASSF3_ENST00000336061.2_Missense_Mutation_p.E136K NM_178169.3 NP_835463.1 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family member 3 136 Ras-associating. signal transduction cytoplasm|microtubule identical protein binding p.E136K(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) TCTCGTGACTGAGAGCCCTGC 0.478000 6 50 0 0 0.001984 0 0 DPF2 5977 broad.mit.edu 37 11 65116365 65116365 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:65116365G>A ENST00000528416.1 + 10 1195 c.1062G>A c.(1060-1062)atG>atA p.M354I DPF2_ENST00000252268.4_Missense_Mutation_p.M368I|DPF2_ENST00000415073.2_Missense_Mutation_p.M170I NM_006268.4 NP_006259.1 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 354 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 GCTACCACATGTACTGTCTCA 0.478000 34 25 0 0 0.004878 0 0 RYR2 6262 broad.mit.edu 37 1 237993844 237993844 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:237993844C>T ENST00000366574.2 + 103 14987 c.14670C>T c.(14668-14670)atC>atT p.I4890I RYR2_ENST00000360064.6_Silent_p.I4896I|RYR2_ENST00000542537.1_Silent_p.I4874I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4890 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) AATGCTTCATCTGTGGGATAG 0.428000 23 102 0 0 0.002780 0 0 USP48 84196 broad.mit.edu 37 1 22050463 22050463 + Missense_Mutation SNP T T C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:22050463T>C ENST00000308271.9 - 12 2224 c.1576A>G c.(1576-1578)Att>Gtt p.I526V USP48_ENST00000374732.3_Missense_Mutation_p.I65V|USP48_ENST00000529637.1_Missense_Mutation_p.I525V|USP48_ENST00000400301.1_Missense_Mutation_p.I526V NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 526 DUSP 1. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.I526V(1) NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CTCTTCATAATTGATATTTTA 0.393000 17 64 0 0 0.008871 0 0 TM7SF3 51768 broad.mit.edu 37 12 27148270 27148270 + Missense_Mutation SNP T T A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:27148270T>A ENST00000343028.4 - 5 815 c.590A>T c.(589-591)tAt>tTt p.Y197F TM7SF3_ENST00000542667.1_5'UTR NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 197 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) AAAATACTGATAGACATCATA 0.507000 15 20 0 0 0.002450 0 0 HCN1 348980 broad.mit.edu 37 5 45262400 45262400 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:45262400C>T ENST00000303230.4 - 8 2353 c.2296G>A c.(2296-2298)Gaa>Aaa p.E766K NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 766 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTGTGCACTTCATTTTTCGGC 0.657000 16 101 0 0 0.004007 0 0 TFRC 7037 broad.mit.edu 37 3 195782029 195782029 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:195782029C>T ENST00000360110.4 - 17 1990 c.1821G>A c.(1819-1821)ttG>ttA p.L607L TFRC_ENST00000392396.3_Silent_p.L607L|TFRC_ENST00000420415.1_Silent_p.L526L|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.L325L NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 607 Ligand-binding. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AGTCCAGGTTCAATTCAACAT 0.453000 T BCL6 NHL 46 188 0 0 0.014410 0 0 NSUN2 54888 broad.mit.edu 37 5 6607347 6607347 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:6607347C>G ENST00000264670.6 - 13 1785 c.1474G>C c.(1474-1476)Gag>Cag p.E492Q NSUN2_ENST00000539938.1_Missense_Mutation_p.E256Q|NSUN2_ENST00000506139.1_Missense_Mutation_p.E457Q NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 492 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 CCATTATTCTCTAAATCCTCA 0.433000 15 466 0 0 0.004007 0 0 SLC7A3 84889 broad.mit.edu 37 X 70145681 70145681 + Silent SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:70145681G>C ENST00000374299.3 - 12 1986 c.1842C>G c.(1840-1842)ctC>ctG p.L614L SLC7A3_ENST00000298085.4_Silent_p.L614L Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 614 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGTGGACATAGAGAGTGCCGG 0.517000 24 28 0 0 0.003954 0 0 TP53 7157 broad.mit.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:7576855G>A ENST00000420246.2 - 9 1123 c.991C>T c.(991-993)Cag>Tag p.Q331* TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 331 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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) CTTAGTACCTGAAGGGTGAAA 0.448000 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) 18 28 0 0 0.007413 0 0 SUPT16H 11198 broad.mit.edu 37 14 21828577 21828577 + Silent SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr14:21828577G>C ENST00000216297.2 - 18 2510 c.2172C>G c.(2170-2172)ctC>ctG p.L724L NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 724 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GGTATACCTTGAGGTGAAAGT 0.408000 6 70 0 0 0.001984 0 0 POLA2 23649 broad.mit.edu 37 11 65063506 65063506 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:65063506C>G ENST00000541089.1 + 16 1898 c.1068C>G c.(1066-1068)gtC>gtG p.V356V POLA2_ENST00000265465.3_Intron|POLA2_ENST00000534785.1_Intron Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 0 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) AGAACCCAGTCTTTGACTTTC 0.552000 21 76 0 0 0.010504 0 0 HAS2 3037 broad.mit.edu 37 8 122641338 122641338 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:122641338C>T ENST00000303924.4 - 2 780 c.243G>A c.(241-243)ttG>ttA p.L81L NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 81 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) CTGTTTTGTTCAACTTTATGG 0.423000 13 324 0 0 0.013537 0 0 COL3A1 1281 broad.mit.edu 37 2 189868984 189868984 + Splice_Site SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:189868984G>A ENST00000304636.3 + 40 2995 c.2825G>A c.(2824-2826)gGa>gAa p.G942E COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 942 Triple-helical region. G -> E (in EDS4). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGTATTAGGGAGCTCCAGGC 0.458000 5 5 0 0 0.001168 0 0 GPR143 4935 broad.mit.edu 37 X 9707573 9707573 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:9707573G>C ENST00000467482.1 - 8 1218 c.1072C>G c.(1072-1074)Caa>Gaa p.Q358E GPR143_ENST00000487206.1_5'UTR|GPR143_ENST00000380929.2_Missense_Mutation_p.Q378E P51810 GP143_HUMAN G protein-coupled receptor 143 358 calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Hepatocellular(5;0.000888) CCACCCACTTGAGACACCTTC 0.602000 3 28 0 0 0.004672 0 0 C9orf84 158401 broad.mit.edu 37 9 114490065 114490065 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:114490065G>A ENST00000394779.3 - 9 1617 c.1373C>T c.(1372-1374)tCa>tTa p.S458L C9orf84_ENST00000394777.4_Missense_Mutation_p.S458L|C9orf84_ENST00000374287.3_Missense_Mutation_p.S497L|C9orf84_ENST00000318737.4_Missense_Mutation_p.S497L NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 497 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGAGGAAGGTGATTTAATAGA 0.328000 32 75 0 0 0.010818 0 0 KIAA0319 9856 broad.mit.edu 37 6 24601308 24601308 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:24601308G>A ENST00000378214.3 - 2 548 c.24C>T c.(22-24)ctC>ctT p.L8L KIAA0319_ENST00000537886.1_Silent_p.L8L|KIAA0319_ENST00000543707.1_Silent_p.L8L|KIAA0319_ENST00000535378.1_5'UTR|KIAA0319_ENST00000430948.2_Intron NM_001168375.1|NM_014809.3 NP_001161847.1|NP_055624.2 Q5VV43 K0319_HUMAN KIAA0319 8 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding p.L8L(1) breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GCAATGAAGAGAGCACACCTG 0.527000 13 132 0 0 0.002450 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 71 0 0 0.009096 0 0 SMARCA1 6594 broad.mit.edu 37 X 128602794 128602794 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:128602794C>G ENST00000371122.4 - 21 2783 c.2654G>C c.(2653-2655)cGa>cCa p.R885P SMARCA1_ENST00000371121.3_Missense_Mutation_p.R873P|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R873P NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 885 SANT 1. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CTCTACCTCTCGAGCTATGTT 0.348000 4 96 0 0 0.009096 0 0 HDC 3067 broad.mit.edu 37 15 50546416 50546416 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr15:50546416G>C ENST00000267845.3 - 6 1033 c.631C>G c.(631-633)Ctg>Gtg p.L211V HDC_ENST00000543581.1_Missense_Mutation_p.L211V NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 211 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TCCACAGGCAGAAATTTCATC 0.512000 4 51 0 0 0.000602 0 0 TP53BP1 7158 broad.mit.edu 37 15 43784203 43784203 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr15:43784203C>A ENST00000263801.3 - 3 520 c.268G>T c.(268-270)Gca>Tca p.A90S TP53BP1_ENST00000450115.2_Missense_Mutation_p.A95S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A95S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A95S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 90 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ACCTCACCTGCAACCTTGTTT 0.413000 Other conserved DNA damage response genes 17 43 7.45023e-12 2.34815e-11 0.010504 1 0 PPP3CC 5533 broad.mit.edu 37 8 22332639 22332639 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:22332639G>C ENST00000240139.5 + 2 549 c.222G>C c.(220-222)atG>atC p.M74I PPP3CC_ENST00000289963.8_Missense_Mutation_p.M74I|PPP3CC_ENST00000397775.3_Missense_Mutation_p.M74I|PPP3CC_ENST00000518852.1_Missense_Mutation_p.M74I NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 74 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) AGAAGACTATGATAGAAGTAG 0.353000 6 49 0 0 0.001168 0 0 ZNF749 388567 broad.mit.edu 37 19 57955273 57955273 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:57955273G>A ENST00000334181.4 + 3 1007 c.757G>A c.(757-759)Gag>Aag p.E253K AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) AAGGCCTTATGAGGGCACTGA 0.413000 8 51 0 0 0.004482 0 0 PTPRS 5802 broad.mit.edu 37 19 5211637 5211637 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:5211637G>C ENST00000372412.4 - 33 5434 c.5201C>G c.(5200-5202)tCt>tGt p.S1734C PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Missense_Mutation_p.S1695C|PTPRS_ENST00000353284.2_Missense_Mutation_p.S1286C|PTPRS_ENST00000357368.4_Missense_Mutation_p.S1733C|PTPRS_ENST00000588012.1_Missense_Mutation_p.S1695C|PTPRS_ENST00000262963.6_Missense_Mutation_p.S1713C|PTPRS_ENST00000587303.1_Missense_Mutation_p.S1733C|PTPRS_ENST00000592099.1_Missense_Mutation_p.S1286C Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1733 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GATGTAGTCAGAGCCCTCCAC 0.562000 15 18 0 0 0.004007 0 0 CACNB1 782 broad.mit.edu 37 17 37341039 37341039 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:37341039C>T ENST00000394303.3 - 8 934 c.727G>A c.(727-729)Gag>Aag p.E243K CACNB1_ENST00000344140.5_Missense_Mutation_p.E288K|CACNB1_ENST00000394310.3_Missense_Mutation_p.E243K NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 243 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) AGTCCTACCTCGTAGCCCTTG 0.612000 4 55 0 0 0.000602 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911860 100911860 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:100911860G>A ENST00000328766.5 - 5 1168 c.715C>T c.(715-717)Cct>Tct p.P239S ARMCX2_ENST00000330154.2_Missense_Mutation_p.P239S|ARMCX2_ENST00000356824.4_Missense_Mutation_p.P239S NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 239 Ala-rich. integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 GAAGTTCCAGGAGACTCTGCA 0.622000 4 69 0 0 0.009096 0 0 KLHL2 11275 broad.mit.edu 37 4 166235316 166235316 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr4:166235316C>A ENST00000226725.6 + 13 1866 c.1607C>A c.(1606-1608)gCa>gAa p.A536E KLHL2_ENST00000421009.2_Missense_Mutation_p.A439E|KLHL2_ENST00000506761.1_Missense_Mutation_p.A370E|KLHL2_ENST00000538127.1_Missense_Mutation_p.A448E|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.A540E NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 536 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) AGAAGAAATGCAGGTATCTGT 0.353000 36 54 1.36161e-19 4.34322e-19 0.004289 1 0 CDH1 999 broad.mit.edu 37 16 68842438 68842438 + Nonsense_Mutation SNP G G T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:68842438G>T ENST00000261769.5 + 4 690 c.499G>T c.(499-501)Gaa>Taa p.E167* CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.E167* NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 167 Cadherin 1. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2)|p.V157_Q177del(1)|p.E165_P170del(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CCCAGAAAATGAAAAAGGCCC 0.468000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 10 23 3.86212e-05 0.000118208 0.008291 1 0 SPEF2 79925 broad.mit.edu 37 5 35691248 35691248 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:35691248C>T ENST00000440995.2 + 11 1634 c.1634C>T c.(1633-1635)cCt>cTt p.P545L CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P545L|SPEF2_ENST00000509059.1_Missense_Mutation_p.P545L Q9C093 SPEF2_HUMAN sperm flagellar 2 545 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAATCTCTTCCTCCTCGAGCG 0.418000 14 194 0 0 0.004990 0 0 DMTF1 9988 broad.mit.edu 37 7 86824033 86824033 + Missense_Mutation SNP G G T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:86824033G>T ENST00000414194.2 + 17 3056 c.1264G>T c.(1264-1266)Gat>Tat p.D422Y DMTF1_ENST00000413276.2_Missense_Mutation_p.D618Y|DMTF1_ENST00000432937.2_Missense_Mutation_p.D600Y|DMTF1_ENST00000331242.7_Missense_Mutation_p.D688Y|DMTF1_ENST00000394703.5_Missense_Mutation_p.D688Y Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 688 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) AGAACAAGTTGATCAAACAAT 0.328000 5 65 0.00116845 0.00350534 0.001168 1 0 AHNAK 79026 broad.mit.edu 37 11 62289685 62289685 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:62289685G>A ENST00000378024.4 - 5 12478 c.12204C>T c.(12202-12204)ttC>ttT p.F4068F AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4068 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) CTGGCATGCTGAATTTGGGCA 0.498000 36 235 0 0 0.004289 0 0 CSMD2 114784 broad.mit.edu 37 1 34166245 34166245 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:34166245C>T ENST00000373381.4 - 23 3781 c.3605G>A c.(3604-3606)cGt>cAt p.R1202H CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R75H NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1162 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCCAGCAAACGGGCGGAGTT 0.498000 22 38 0 0 0.002780 0 0 DAK 26007 broad.mit.edu 37 11 61111327 61111327 + Splice_Site SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:61111327G>A ENST00000394900.3 + 12 1211 c.e12-1 NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 GCTGCCCTTAGATGCTGAAAC 0.627000 23 109 0 0 0.012319 0 0 PAK3 5063 broad.mit.edu 37 X 110406927 110406927 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:110406927G>A ENST00000372007.5 + 10 1129 c.738G>A c.(736-738)atG>atA p.M246I PAK3_ENST00000372010.1_Missense_Mutation_p.M261I|PAK3_ENST00000519681.1_Missense_Mutation_p.M267I|PAK3_ENST00000262836.4_Missense_Mutation_p.M261I|PAK3_ENST00000446737.1_Missense_Mutation_p.M246I|PAK3_ENST00000360648.4_Missense_Mutation_p.M282I|PAK3_ENST00000425146.1_Missense_Mutation_p.M246I|PAK3_ENST00000518291.1_Missense_Mutation_p.M282I|PAK3_ENST00000417227.1_Missense_Mutation_p.M267I NM_002578.3 NP_002569.1 O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding p.M246I(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AATCCAAGATGACAGATGAGG 0.403000 TSP Lung(19;0.15) 24 85 0 0 0.003954 0 0 OR4D9 390199 broad.mit.edu 37 11 59283291 59283291 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:59283291G>A ENST00000329328.3 + 1 906 c.906G>A c.(904-906)aaG>aaA p.K302K NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 GGAAACTGAAGAGACGGCTAG 0.383000 10 53 0 0 0.006214 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 3 37 0 0 0.009096 0 0 GPN1 11321 broad.mit.edu 37 2 27852011 27852011 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:27852011G>A ENST00000264718.3 + 1 149 c.128G>A c.(127-129)gGa>gAa p.G43E GPN1_ENST00000458167.2_Intron|GPN1_ENST00000515877.1_Intron|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000610189.1_Missense_Mutation_p.G29E|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000424214.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 29 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding endometrium(1)|large_intestine(1)|lung(12) 14 GGAATGGCGGGATCCGGGAAA 0.627000 10 75 0 0 0.010729 0 0 ZNF215 7762 broad.mit.edu 37 11 6953674 6953674 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:6953674G>C ENST00000278319.5 + 3 759 c.171G>C c.(169-171)ttG>ttC p.L57F ZNF215_ENST00000414517.2_Missense_Mutation_p.L57F|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.L57F NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 57 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TCCAGTATTTGAAAGTGTCTG 0.478000 28 22 0 0 0.004656 0 0 MAP3K7 6885 broad.mit.edu 37 6 91257016 91257016 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:91257016C>T ENST00000369329.3 - 11 1332 c.1171G>A c.(1171-1173)Gac>Aac p.D391N MAP3K7_ENST00000369320.1_Missense_Mutation_p.D72N|MAP3K7_ENST00000369332.3_Missense_Mutation_p.D391N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.D391N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.D391N NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 391 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TCAGACATGTCAGCACTCATC 0.478000 16 128 0 0 0.006122 0 0 CTRL 1506 broad.mit.edu 37 16 67964676 67964676 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:67964676C>G ENST00000574481.1 - 4 832 c.271G>C c.(271-273)Gac>Cac p.D91H CTRL_ENST00000576408.1_5'UTR NM_001907.2 NP_001898.1 P40313 CTRL_HUMAN chymotrypsin-like 91 Peptidase S1. digestion|proteolysis extracellular space serine-type endopeptidase activity kidney(1)|large_intestine(2)|urinary_tract(1) 4 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) GATGATCGGTCATACTCGCCC 0.637000 7 22 0 0 0.003080 0 0 STRAP 11171 broad.mit.edu 37 12 16050868 16050868 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:16050868C>G ENST00000419869.2 + 7 1004 c.691C>G c.(691-693)Ctt>Gtt p.L231V STRAP_ENST00000538352.1_Missense_Mutation_p.L137V|STRAP_ENST00000025399.6_Missense_Mutation_p.L244V NM_007178.3 NP_009109.3 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated protein 231 mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 15 Hepatocellular(102;0.121) TTCTGCATCTCTTCATCCTGA 0.323000 4 81 0 0 0.009096 0 0 PROS1 5627 broad.mit.edu 37 3 93605256 93605256 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:93605256G>A ENST00000394236.3 - 11 1563 c.1247C>T c.(1246-1248)cCg>cTg p.P416L PROS1_ENST00000407433.1_Missense_Mutation_p.P285L NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 416 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCCATTTTCCGGCTTAAAAAG 0.368000 18 191 0 0 0.010504 0 0 ADH1C 126 broad.mit.edu 37 4 100273830 100273830 + RNA SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr4:100273830C>G ENST00000510055.1 - 0 57 ADH1C_ENST00000515683.1_RNA P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CTGCTGTGCTCATATTGATTC 0.328000 21 61 0 0 0.012319 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660935 77660935 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr4:77660935G>A ENST00000296043.6 + 5 2562 c.1609G>A c.(1609-1611)Gac>Aac p.D537N NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 537 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CTTAGAACATGACTTGCTGTC 0.517000 12 106 0 0 0.010729 0 0 APC2 10297 broad.mit.edu 37 19 1455193 1455193 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:1455193C>G ENST00000535453.1 + 4 2172 c.459C>G c.(457-459)ctC>ctG p.L153L APC2_ENST00000233607.2_Silent_p.L153L|APC2_ENST00000238483.4_Silent_p.L153L O95996 APC2_HUMAN adenomatosis polyposis coli 2 153 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 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) AGGAGAAGCTCTGGTACTACT 0.657000 3 9 0 0 0.004672 0 0 BTBD11 121551 broad.mit.edu 37 12 108012011 108012011 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:108012011G>C ENST00000280758.5 + 10 2836 c.2308G>C c.(2308-2310)Gag>Cag p.E770Q BTBD11_ENST00000357167.4_Missense_Mutation_p.E307Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.E770Q|BTBD11_ENST00000420571.2_Intron NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 770 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GATTCTGGCCGAGGGGACTGA 0.607000 17 38 0 0 0.006122 0 0 OR9A2 135924 broad.mit.edu 37 7 142724082 142724082 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:142724082C>G ENST00000350513.2 - 1 200 c.138G>C c.(136-138)gtG>gtC p.V46V NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) CACAGACAATCACAATGATGA 0.443000 4 134 0 0 0.000602 0 0 ERBB2 2064 broad.mit.edu 37 17 37881000 37881000 + Missense_Mutation SNP G G T rs121913471 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:37881000G>T ENST00000406381.2 + 22 2749 c.2239G>T c.(2239-2241)Gtg>Ttg p.V747L ERBB2_ENST00000584601.1_Missense_Mutation_p.V747L|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501L|ERBB2_ENST00000541774.1_Missense_Mutation_p.V762L|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747L|ERBB2_ENST00000584450.1_Missense_Mutation_p.V777L|ERBB2_ENST00000269571.5_Missense_Mutation_p.V777L NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 777 Protein kinase. 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 p.V777L(6)|p.V777M(1) 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) GATGGCTGGTGTGGGCTCCCC 0.577000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 26 62 4.7796e-09 1.4931e-08 0.004656 1 0 CC2D1A 54862 broad.mit.edu 37 19 14034524 14034524 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:14034524G>A ENST00000318003.7 + 17 2081 c.1840G>A c.(1840-1842)Gag>Aag p.E614K CC2D1A_ENST00000589606.1_Missense_Mutation_p.E614K NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 614 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) AAAGTTGGCGGAGGACTGTAA 0.627000 12 61 0 0 0.010729 0 0 RELN 5649 broad.mit.edu 37 7 103191699 103191699 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:103191699C>G ENST00000424685.2 - 41 6276 c.6117G>C c.(6115-6117)gtG>gtC p.V2039V RELN_ENST00000343529.5_Silent_p.V2039V|RELN_ENST00000428762.1_Silent_p.V2039V P78509 RELN_HUMAN reelin 2039 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.V2039V(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATTCCAGTCTCACTGGATCCG 0.512000 13 28 0 0 0.001855 0 0 TPT1 7178 broad.mit.edu 37 13 45914259 45914259 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr13:45914259C>T ENST00000379056.1 - 2 231 c.61G>A c.(61-63)Gaa>Aaa p.E21K TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379060.4_Missense_Mutation_p.E43K|RP11-290D2.6_ENST00000610057.1_RNA|TPT1_ENST00000309246.5_Missense_Mutation_p.E55K|TPT1_ENST00000379055.1_Missense_Mutation_p.E21K|TPT1_ENST00000530705.1_Missense_Mutation_p.E55K P13693 TCTP_HUMAN tumor protein, translationally-controlled 1 55 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding lung(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) TCGGGGCCTTCAGCGGAGGCA 0.448000 7 35 0 0 0.003080 0 0 MCC 4163 broad.mit.edu 37 5 112437588 112437588 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:112437588C>T ENST00000302475.4 - 6 1239 c.676G>A c.(676-678)Gaa>Aaa p.E226K MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.E416K|MCC_ENST00000515367.2_Missense_Mutation_p.E163K NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 226 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GACCTCTCTTCAGCCAGGTTG 0.547000 4 64 0 0 0.000602 0 0 PNPLA7 375775 broad.mit.edu 37 9 140374852 140374852 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:140374852G>A ENST00000406427.1 - 23 2828 c.2492C>T c.(2491-2493)aCg>aTg p.T831M PNPLA7_ENST00000371457.1_Missense_Mutation_p.T412M|PNPLA7_ENST00000277531.4_Missense_Mutation_p.T806M NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 806 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGGTGTGAGCGTGCCATCTAC 0.667000 12 33 0 0 0.001855 0 0 SMAD1 4086 broad.mit.edu 37 4 146475180 146475180 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr4:146475180G>C ENST00000515385.1 + 6 1784 c.1242G>C c.(1240-1242)atG>atC p.M414I SMAD1_ENST00000302085.4_Missense_Mutation_p.M414I|SMAD1_ENST00000394092.2_Missense_Mutation_p.M414I Q15797 SMAD1_HUMAN SMAD family member 1 414 MH2. BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 17 all_hematologic(180;0.151) CTATACGTATGAGCTTTGTGA 0.353000 8 83 0 0 0.003080 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650127 75650127 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:75650127G>A ENST00000361470.2 + 1 2082 c.1804G>A c.(1804-1806)Gag>Aag p.E602K NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 602 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CAAGGAGGCTGAGATTTGGGA 0.498000 10 19 0 0 0.008291 0 0 SMC1A 8243 broad.mit.edu 37 X 53432589 53432589 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:53432589C>G ENST00000322213.4 - 11 1874 c.1747G>C c.(1747-1749)Gag>Cag p.E583Q SMC1A_ENST00000375340.6_Missense_Mutation_p.E349Q NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 583 Flexible hinge. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 CGGAGTTTCTCATCTGTAGGC 0.537000 8 33 0 0 0.006214 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 164 0 0 0.001984 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310614 57310614 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:57310614G>A ENST00000457912.1 + 2 553 c.553G>A c.(553-555)Gag>Aag p.E185K SMTNL1_ENST00000527972.1_Missense_Mutation_p.E167K|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E167K E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 167 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GGCAACAGTTGAGGAGGAGGA 0.547000 10 6 0 0 0.013537 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 60 0 0 0.009096 0 0 KRT73 319101 broad.mit.edu 37 12 53009982 53009982 + Silent SNP G G A rs116369374 by1000genomes TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:53009982G>A ENST00000305748.3 - 2 664 c.630C>T c.(628-630)agC>agT p.S210S NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 210 Coil 1B.|Rod. keratin filament structural molecule activity p.S210R(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTCGCGCACGCTCCTCAGCT 0.622000 17 75 0 0 0.006122 0 0 OLFM2 93145 broad.mit.edu 37 19 9965102 9965102 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:9965102C>A ENST00000264833.4 - 6 1310 c.1125G>T c.(1123-1125)atG>atT p.M375I OLFM2_ENST00000590841.1_Missense_Mutation_p.M297I NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 375 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 CACCGCAGATCATGAAGGCCT 0.627000 18 72 1.02788e-11 3.23006e-11 0.004990 1 0 ECHDC1 55862 broad.mit.edu 37 6 127652116 127652116 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:127652116G>C ENST00000531967.1 - 2 579 c.76C>G c.(76-78)Caa>Gaa p.Q26E ECHDC1_ENST00000474289.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000430841.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000309620.9_Missense_Mutation_p.Q20E|ECHDC1_ENST00000368289.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000368291.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000454859.3_Missense_Mutation_p.Q20E|ECHDC1_ENST00000528402.1_Intron NM_001139510.1 NP_001132982.1 Q9NTX5 ECHD1_HUMAN enoyl CoA hydratase domain containing 1 26 catalytic activity large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) AATCCTGTTTGATGTAGCAAT 0.383000 5 42 0 0 0.001168 0 0 RCOR2 283248 broad.mit.edu 37 11 63681756 63681756 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:63681756C>T ENST00000301459.4 - 7 1039 c.652G>A c.(652-654)Gat>Aat p.D218N NM_173587.3 NP_775858.2 Q8IZ40 RCOR2_HUMAN REST corepressor 2 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 TCTGCAGGATCGGGCTCTCCC 0.627000 9 34 0 0 0.004482 0 0 SIN3B 23309 broad.mit.edu 37 19 16989464 16989464 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:16989464G>C ENST00000379803.1 + 20 3429 c.3415G>C c.(3415-3417)Gag>Cag p.E1139Q SIN3B_ENST00000248054.5_Missense_Mutation_p.E1107Q|SIN3B_ENST00000594235.1_3'UTR|SIN3B_ENST00000595541.1_Missense_Mutation_p.E697Q NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 1139 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 GACGCTGTGTGAGACAGTGCA 0.687000 4 27 0 0 0.009096 0 0 ZNF337 26152 broad.mit.edu 37 20 25657196 25657196 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr20:25657196C>T ENST00000376436.1 - 4 1267 c.728G>A c.(727-729)cGa>cAa p.R243Q ZNF337_ENST00000252979.5_Missense_Mutation_p.R243Q|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R211Q zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCTGAAGCCTCGCCCACACAC 0.537000 24 96 0 0 0.002780 0 0 MED24 9862 broad.mit.edu 37 17 38182548 38182548 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:38182548G>A ENST00000394126.1 - 18 2339 c.1921C>T c.(1921-1923)Ctg>Ttg p.L641L MED24_ENST00000394127.2_Silent_p.L603L|MED24_ENST00000501516.3_Silent_p.L635L|MED24_ENST00000394128.2_Silent_p.L616L|MED24_ENST00000356271.3_Silent_p.L603L O75448 MED24_HUMAN mediator complex subunit 24 616 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) CACACCGCCAGACTGCATACC 0.562000 22 201 0 0 0.003954 0 0 LIPA 3988 broad.mit.edu 37 10 90988136 90988136 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:90988136G>A ENST00000336233.5 - 4 571 c.249C>T c.(247-249)ttC>ttT p.F83F LIPA_ENST00000456827.1_Silent_p.F83F|LIPA_ENST00000371837.1_Silent_p.F27F P38571 LICH_HUMAN lipase A, lysosomal acid, cholesterol esterase 83 lipid catabolic process lysosome lipase activity|sterol esterase activity endometrium(1)|large_intestine(2)|lung(3) 6 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) CATGTTGCAGGAAGACAACTG 0.438000 23 41 0 0 0.003954 0 0 UTP20 27340 broad.mit.edu 37 12 101779423 101779423 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:101779423G>C ENST00000261637.4 + 61 8293 c.8119G>C c.(8119-8121)Gag>Cag p.E2707Q NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2707 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GGTTGGGCTTGAGAGCTTCTC 0.433000 27 43 0 0 0.005443 0 0 SMARCA4 6597 broad.mit.edu 37 19 11118698 11118698 + Splice_Site SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:11118698G>C ENST00000358026.2 + 14 2406 c.2122G>C c.(2122-2124)Gag>Cag p.E708Q SMARCA4_ENST00000541122.2_Splice_Site_p.E708Q|SMARCA4_ENST00000344626.4_Splice_Site_p.E708Q|SMARCA4_ENST00000589677.1_Splice_Site_p.E708Q|SMARCA4_ENST00000444061.3_Splice_Site_p.E708Q|SMARCA4_ENST00000413806.3_Splice_Site_p.E708Q|SMARCA4_ENST00000590574.1_Splice_Site_p.E708Q|SMARCA4_ENST00000429416.3_Splice_Site_p.E708Q|SMARCA4_ENST00000450717.3_Splice_Site_p.E708Q NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 708 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) GCACATCATTGAGTAAGGGGT 0.592000 """F, N, Mis""" NSCLC 4 16 0 0 0.001168 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 72 0 0 0.009096 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88916443 88916443 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:88916443C>T ENST00000277141.6 - 27 4459 c.2035G>A c.(2035-2037)Gag>Aag p.E679K ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E290K|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1352K|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E1154K|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E1390K Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1390 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 TCTTTGTCCTCTTTGCTTCTT 0.443000 14 94 0 0 0.001855 0 0 NBEAL2 23218 broad.mit.edu 37 3 47036911 47036911 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:47036911C>T ENST00000450053.3 + 13 1865 c.1686C>T c.(1684-1686)atC>atT p.I562I NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.I562I NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 562 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GTGCTGTCATCCGCACATTAT 0.652000 8 42 0 0 0.003080 0 0 F12 2161 broad.mit.edu 37 5 176831246 176831246 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:176831246C>G ENST00000253496.3 - 9 1017 c.969G>C c.(967-969)ccG>ccC p.P323P NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 323 Pro-rich. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGAGGCTTCGGCGGTGCCG 0.726000 Hereditary Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 19 0 0 0.001168 0 0 CHD7 55636 broad.mit.edu 37 8 61773576 61773576 + Silent SNP T T G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:61773576T>G ENST00000423902.2 + 35 8201 c.7722T>G c.(7720-7722)ctT>ctG p.L2574L CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2574 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTATCAATCTTGAAGATGGGA 0.458000 7 38 0 0 0.004482 0 0 TTC39A 22996 broad.mit.edu 37 1 51787490 51787490 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:51787490C>G ENST00000262676.5 - 2 200 c.40G>C c.(40-42)Gag>Cag p.E14Q TTC39A_ENST00000413473.2_Missense_Mutation_p.E21Q|TTC39A_ENST00000447632.2_Missense_Mutation_p.E18Q|TTC39A_ENST00000451380.1_Missense_Mutation_p.E17Q|TTC39A_ENST00000262675.7_5'UTR|TTC39A_ENST00000371750.5_Missense_Mutation_p.E18Q|TTC39A_ENST00000371747.3_Missense_Mutation_p.E17Q Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A 18 binding p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 AGGCTGCTCTCAGGAGTCCTG 0.622000 4 12 0 0 0.009096 0 0 KY 339855 broad.mit.edu 37 3 134323276 134323276 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:134323276C>T ENST00000508956.1 - 10 1125 c.1068G>A c.(1066-1068)ccG>ccA p.P356P KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.P377P Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 377 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 TGAACAGCGTCGGGGCGCAGC 0.552000 18 53 0 0 0.010504 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110530434 110530434 + Nonsense_Mutation SNP G G T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:110530434G>T ENST00000378402.5 + 73 11832 c.11728G>T c.(11728-11730)Gaa>Taa p.E3910* NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3910 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGTCCTTGGTGAAAACTACTT 0.368000 HNSCC(38;0.096) 7 30 0.00307968 0.00918699 0.003080 1 0 KBTBD6 89890 broad.mit.edu 37 13 41706474 41706474 + Silent SNP A A G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr13:41706474A>G ENST00000379485.1 - 1 408 c.174T>C c.(172-174)gaT>gaC p.D58D KBTBD6_ENST00000499385.2_Intron NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 58 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GCAGCCGCGCATCGTAGAAGG 0.612000 14 83 0 0 0.001855 0 0 DRP2 1821 broad.mit.edu 37 X 100497374 100497374 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:100497374C>T ENST00000395209.3 + 8 1416 c.889C>T c.(889-891)Cac>Tac p.H297Y DRP2_ENST00000538510.1_Missense_Mutation_p.H297Y|DRP2_ENST00000541709.1_Missense_Mutation_p.H219Y|DRP2_ENST00000402866.1_Missense_Mutation_p.H297Y NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 297 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 TGATCTGGCCCACCAACTTGC 0.498000 52 203 0 0 0.014410 0 0 TMIGD1 388364 broad.mit.edu 37 17 28652020 28652020 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:28652020G>C ENST00000328886.4 - 4 526 c.454C>G c.(454-456)Caa>Gaa p.Q152E TMIGD1_ENST00000538566.2_Missense_Mutation_p.Q152E NM_206832.1 NP_996663.1 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain containing 1 152 Ig-like C2-type 2. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 CACATCATTTGAGCCTGGGGG 0.443000 7 120 0 0 0.003080 0 0 XPR1 9213 broad.mit.edu 37 1 180804090 180804090 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:180804090G>A ENST00000367590.4 + 10 1413 c.1215G>A c.(1213-1215)gtG>gtA p.V405V XPR1_ENST00000367589.3_Silent_p.V405V NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 405 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GCCTGTCAGTGATACTGATGG 0.428000 9 78 0 0 0.004482 0 0 AGO2 27161 broad.mit.edu 37 8 141567305 141567305 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:141567305C>T ENST00000220592.5 - 8 1021 c.909G>A c.(907-909)acG>acA p.T303T AGO2_ENST00000519980.1_Silent_p.T303T NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 TGCACTCCACCGTCTGCCCGC 0.597000 58 73 0 0 0.014410 0 0 GALNT6 11226 broad.mit.edu 37 12 51749655 51749655 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:51749655C>G ENST00000543196.2 - 10 1895 c.1690G>C c.(1690-1692)Ggg>Cgg p.G564R GALNT6_ENST00000356317.3_Missense_Mutation_p.G564R Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 564 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TGACAGCTCCCAAGGCCCAGA 0.517000 22 46 0 0 0.012319 0 0 MRPS10 55173 broad.mit.edu 37 6 42176089 42176089 + Nonsense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:42176089C>A ENST00000053468.3 - 7 559 c.544G>T c.(544-546)Gaa>Taa p.E182* NM_018141.3 NP_060611.2 P82664 RT10_HUMAN mitochondrial ribosomal protein S10 182 translation actin cytoskeleton|mitochondrion|ribosome structural constituent of ribosome endometrium(1)|lung(1) 2 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528) TTGATGTGTTCTGGTAACTGT 0.343000 6 384 0.00307968 0.00918699 0.003080 1 0 ZNF480 147657 broad.mit.edu 37 19 52825351 52825351 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:52825351G>C ENST00000595962.1 + 5 914 c.848G>C c.(847-849)aGa>aCa p.R283T CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Missense_Mutation_p.R240T|ZNF480_ENST00000335090.6_Missense_Mutation_p.R206T|ZNF480_ENST00000490272.1_3'UTR NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) ATTCATACCAGAGAGAAGCCG 0.348000 7 31 0 0 0.001984 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37454021 37454021 + Splice_Site SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:37454021G>C ENST00000374660.1 + 18 1933 c.e18-1 ANKRD30A_ENST00000602533.1_Splice_Site|ANKRD30A_ENST00000361713.1_Splice_Site Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACCTTTTATAGATGAGATACT 0.299000 22 60 0 0 0.003954 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166845891 166845891 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:166845891C>G ENST00000510118.1 - 17 1835 c.1495G>C c.(1495-1497)Gat>Cat p.D499H RPS6KA2_ENST00000481261.2_Missense_Mutation_p.D385H|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.D385H|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.D474H|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.D482H Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 474 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CCACTCACATCCTTGAGGGTG 0.498000 8 14 0 0 0.003080 0 0 ARHGAP4 393 broad.mit.edu 37 X 153186824 153186824 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:153186824G>A ENST00000370028.3 - 3 486 c.429C>T c.(427-429)gtC>gtT p.V143V ARHGAP4_ENST00000393721.1_Silent_p.V143V|ARHGAP4_ENST00000370016.1_Silent_p.V143V|ARHGAP4_ENST00000537206.1_Silent_p.V120V|ARHGAP4_ENST00000350060.5_Silent_p.V143V NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 143 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCACCTTCTTGACCAGGCGCC 0.687000 5 28 0 0 0.001984 0 0 TAT 6898 broad.mit.edu 37 16 71606110 71606110 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:71606110G>A ENST00000355962.4 - 6 818 c.685C>T c.(685-687)Cat>Tat p.H229Y RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 229 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TTCTGAAGATGACGTTTGCTG 0.438000 14 29 0 0 0.001855 0 0 ZCWPW1 55063 broad.mit.edu 37 7 99998696 99998696 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:99998696C>T ENST00000398027.2 - 18 2135 c.1888G>A c.(1888-1890)Gag>Aag p.E630K ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E459K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E459K NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 630 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGCTGCAGCTCCCCGCTCTGC 0.607000 4 57 0 0 0.009096 0 0 DIAPH2 1730 broad.mit.edu 37 X 96171543 96171543 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:96171543C>A ENST00000324765.8 + 8 1186 c.839C>A c.(838-840)tCt>tAt p.S280Y DIAPH2_ENST00000373054.4_Missense_Mutation_p.S276Y|DIAPH2_ENST00000355827.4_Missense_Mutation_p.S280Y|DIAPH2_ENST00000373061.3_Missense_Mutation_p.S280Y|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S280Y O60879 DIAP2_HUMAN diaphanous-related formin 2 280 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 AAAATACTTTCTGCTATTTGC 0.318000 18 37 1.67942e-08 5.23089e-08 0.006122 1 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535616 27535616 + RNA SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:27535616G>A ENST00000574842.1 + 0 255 ATGGGTCTCAGAGCAGTCCAT 0.493000 116 125 0 0 0.014410 0 0 SLC25A25 114789 broad.mit.edu 37 9 130830845 130830845 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:130830845G>A ENST00000373068.2 + 1 366 c.247G>A c.(247-249)Gag>Aag p.E83K SLC25A25_ENST00000373069.5_Missense_Mutation_p.E83K NM_001006641.3 NP_001006642.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 116 EF-hand 2. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 GCACCGCACCGAGGGCGAGCT 0.721000 5 30 0 0 0.000602 0 0 SIM1 6492 broad.mit.edu 37 6 100896393 100896393 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:100896393G>A ENST00000369208.3 - 7 1487 c.705C>T c.(703-705)cgC>cgT p.R235R SIM1_ENST00000262901.4_Silent_p.R235R P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 235 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.R235R(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCAGGCTGGCGCGGAACATAA 0.617000 8 20 0 0 0.004482 0 0 HJURP 55355 broad.mit.edu 37 2 234750411 234750411 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:234750411C>G ENST00000411486.2 - 8 1080 c.1015G>C c.(1015-1017)Gat>Cat p.D339H HJURP_ENST00000441687.1_Missense_Mutation_p.D254H|HJURP_ENST00000432087.1_Missense_Mutation_p.D285H NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 339 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TTCTTGCAATCTCTTAATGCC 0.428000 5 37 0 0 0.000602 0 0 EPHX2 2053 broad.mit.edu 37 8 27358515 27358515 + Silent SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:27358515C>A ENST00000521400.1 + 2 604 c.174C>A c.(172-174)atC>atA p.I58I EPHX2_ENST00000518379.1_Silent_p.I58I|EPHX2_ENST00000517536.1_Silent_p.I58I|EPHX2_ENST00000380476.3_Silent_p.I5I|EPHX2_ENST00000521780.1_Intron|EPHX2_ENST00000520666.1_3'UTR NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 58 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) AAGGAGAGATCACACTTTCCC 0.522000 7 62 8.12818e-05 0.000248062 0.001984 1 0 KANSL3 55683 broad.mit.edu 37 2 97267955 97267955 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:97267955C>G ENST00000599854.1 - 19 2586 c.2119G>C c.(2119-2121)Ggt>Cgt p.G707R KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000431828.1_Missense_Mutation_p.G794R|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.G614R NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 820 Ser-rich. V -> I (in dbSNP:rs34406082). GGCTTCCCACCAGGAGTGGCA 0.622000 8 5 0 0 0.004482 0 0 POLH 5429 broad.mit.edu 37 6 43581702 43581702 + Nonsense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:43581702C>G ENST00000372236.4 + 11 1845 c.1550C>G c.(1549-1551)tCa>tGa p.S517* POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Nonsense_Mutation_p.S455* NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 517 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TCCAAGCCCTCATTACCTTTT 0.418000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 4 126 0 0 0.009096 0 0 FBXO16 157574 broad.mit.edu 37 8 28304753 28304753 + Nonsense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:28304753G>A ENST00000380254.2 - 7 926 c.778C>T c.(778-780)Cga>Tga p.R260* FBXO16_ENST00000346498.2_Nonsense_Mutation_p.R248*|FBXO16_ENST00000518734.1_Nonsense_Mutation_p.R248* NM_001258211.1|NM_172366.3 NP_001245140.1|NP_758954.1 Q8IX29 FBX16_HUMAN F-box protein 16 260 large_intestine(2)|ovary(1) 3 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) TGTGACTGTCGGCTGAAGTCT 0.348000 35 104 0 0 0.004878 0 0 MCF2 4168 broad.mit.edu 37 X 138669900 138669900 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:138669900G>C ENST00000520602.1 - 25 2962 c.2677C>G c.(2677-2679)Cag>Gag p.Q893E MCF2_ENST00000370578.4_Missense_Mutation_p.Q978E|MCF2_ENST00000338585.6_Missense_Mutation_p.Q849E|MCF2_ENST00000370573.4_Missense_Mutation_p.Q833E|MCF2_ENST00000536274.1_Missense_Mutation_p.Q794E|MCF2_ENST00000519895.1_Missense_Mutation_p.Q909E|MCF2_ENST00000370576.4_Missense_Mutation_p.Q833E|MCF2_ENST00000414978.1_Missense_Mutation_p.Q893E P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 833 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) AGAGAAATCTGAAACTTATCC 0.313000 28 67 0 0 0.008361 0 0 RPA4 29935 broad.mit.edu 37 X 96139912 96139912 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:96139912C>T ENST00000373040.3 + 1 1006 c.603C>T c.(601-603)atC>atT p.I201I DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron NM_013347.4 NP_037479.1 Q13156 RFA4_HUMAN replication protein A4, 30kDa 201 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 GCAATTTCATCCAGGACGAAG 0.517000 Other identified genes with known or suspected DNA repair function 10 78 0 0 0.010729 0 0 BRF1 2972 broad.mit.edu 37 14 105739116 105739116 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr14:105739116C>T ENST00000546474.1 - 3 15340 c.381G>A c.(379-381)aaG>aaA p.K127K BRF1_ENST00000440513.3_Silent_p.K12K|BRF1_ENST00000379937.2_Silent_p.K100K|BRF1_ENST00000548421.1_Silent_p.K127K|BRF1_ENST00000327359.3_Silent_p.K12K NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 127 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CGTGGGCCATCTTCCGGCCGC 0.627000 7 65 0 0 0.001984 0 0 AKR7L 246181 broad.mit.edu 37 1 19593913 19593913 + RNA SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:19593913C>G ENST00000420396.2 - 0 679 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 TCCAGCTGCTCCAGGCTGGAC 0.622000 9 56 0 0 0.002450 0 0 VEGFC 7424 broad.mit.edu 37 4 177608358 177608358 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr4:177608358G>A ENST00000280193.2 - 6 1543 c.1128C>T c.(1126-1128)ttC>ttT p.F376F RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 376 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TTTGGTGGTGGAACTTCTTTC 0.368000 9 124 0 0 0.008291 0 0 COL28A1 340267 broad.mit.edu 37 7 7398306 7398306 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:7398306G>C ENST00000399429.3 - 35 3476 c.3336C>G c.(3334-3336)ttC>ttG p.F1112L NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 1112 BPTI/Kunitz inhibitor. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TTTCACTGTTGAATCTATTTC 0.403000 13 147 0 0 0.001855 0 0 TTC13 79573 broad.mit.edu 37 1 231042679 231042679 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:231042679G>A ENST00000366661.4 - 23 2562 c.2555C>T c.(2554-2556)tCt>tTt p.S852F TTC13_ENST00000366662.4_Missense_Mutation_p.S798F|TTC13_ENST00000414259.1_Missense_Mutation_p.S799F NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 852 binding central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) ACGTGGAGAAGAGTCTGTGTT 0.358000 5 57 0 0 0.000602 0 0 ZNF362 149076 broad.mit.edu 37 1 33745810 33745810 + Silent SNP G G T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:33745810G>T ENST00000539719.1 + 5 605 c.435G>T c.(433-435)ccG>ccT p.P145P ZNF362_ENST00000373428.5_Silent_p.P145P NM_152493.2 NP_689706.2 Q5T0B9 ZN362_HUMAN zinc finger protein 362 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCAGCACCCCGTCCACACCCA 0.672000 72 142 1.02368e-60 3.29507e-60 0.014410 1 0 CD1A 909 broad.mit.edu 37 1 158224516 158224516 + Splice_Site SNP C C T rs144185153 byFrequency TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:158224516C>T ENST00000289429.5 + 1 590 c.57C>T c.(55-57)gaC>gaT p.D19D NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 19 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GCAATGCAGACGGTAAGAACT 0.458000 54 62 0 0 0.014410 0 0 ZNF180 7733 broad.mit.edu 37 19 44981601 44981601 + Missense_Mutation SNP G G A rs146300903 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:44981601G>A ENST00000221327.4 - 5 1378 c.1097C>T c.(1096-1098)tCg>tTg p.S366L ZNF180_ENST00000391956.4_Missense_Mutation_p.S341L|ZNF180_ENST00000592529.1_Missense_Mutation_p.S339L NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) AACAAGATGCGAGCTCCAGCT 0.433000 6 87 0 0 0.001984 0 0 SCYL3 57147 broad.mit.edu 37 1 169833528 169833528 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:169833528G>A ENST00000367771.6 - 9 1151 c.937C>T c.(937-939)Ctg>Ttg p.L313L SCYL3_ENST00000367772.4_Silent_p.L313L|SCYL3_ENST00000367770.1_Silent_p.L313L|SCYL3_ENST00000470238.1_5'UTR NM_020423.6 NP_065156.5 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGGCCAAGCAGATAAGGAAGA 0.403000 14 120 0 0 0.004007 0 0 ZNF699 374879 broad.mit.edu 37 19 9407283 9407283 + Missense_Mutation SNP A A C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:9407283A>C ENST00000591998.1 - 6 1025 c.797T>G c.(796-798)tTt>tGt p.F266C ZNF699_ENST00000308650.3_Missense_Mutation_p.F266C Q32M78 ZN699_HUMAN zinc finger protein 699 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ATGTGCCCTAAAGAATGAGGA 0.393000 8 78 0 0 0.004482 0 0 CDH1 999 broad.mit.edu 37 16 68842716 68842716 + Nonsense_Mutation SNP G G T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:68842716G>T ENST00000261769.5 + 5 843 c.652G>T c.(652-654)Gag>Tag p.E218* CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.E218* NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 218 Cadherin 1. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GAAGGTGACAGAGCCTCTGGA 0.473000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 11 17 1.08611e-07 3.35332e-07 0.010729 1 0 LHX2 9355 broad.mit.edu 37 9 126776374 126776374 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:126776374C>T ENST00000373615.4 + 2 994 c.255C>T c.(253-255)ctC>ctT p.L85L NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 85 LIM zinc-binding 1. nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 AGTGCAAGCTCAACCTGGAGT 0.617000 7 49 0 0 0.001984 0 0 PCF11 51585 broad.mit.edu 37 11 82880300 82880300 + Nonsense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:82880300C>T ENST00000298281.4 + 8 3375 c.2923C>T c.(2923-2925)Caa>Taa p.Q975* NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 975 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 ACAACATAATCAACTTGGTGG 0.512000 7 23 0 0 0.003080 0 0 TMEM63B 55362 broad.mit.edu 37 6 44122428 44122428 + Splice_Site SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:44122428G>C ENST00000259746.9 + 24 2490 c.e24-1 TMEM63B_ENST00000323267.6_Splice_Site Q5T3F8 TM63B_HUMAN transmembrane protein 63B integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) TCCTCCTTCAGAAATACATCG 0.617000 6 53 0 0 0.001168 0 0 TXNIP 10628 broad.mit.edu 37 1 145440904 145440904 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:145440904C>T ENST00000369317.4 + 7 1325 c.991C>T c.(991-993)Cct>Tct p.P331S TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 331 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTTTCTAGCTCCTCCCTGCTA 0.448000 11 142 0 0 0.008291 0 0 APPL1 26060 broad.mit.edu 37 3 57283546 57283546 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:57283546G>A ENST00000288266.3 + 11 1169 c.1022G>A c.(1021-1023)tGt>tAt p.C341Y NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 341 PH.|Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) AGACGATATTGTTTTCAGATC 0.383000 15 86 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 113599417 113599417 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:113599417G>C ENST00000297405.5 - 23 4007 c.3763C>G c.(3763-3765)Cca>Gca p.P1255A CSMD3_ENST00000455883.2_Missense_Mutation_p.P1151A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1255A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1215A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1255 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGATAATTTGGAGACAGCAAA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 94 0 0 0.001984 0 0 CHAF1B 8208 broad.mit.edu 37 21 37775096 37775096 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr21:37775096C>G ENST00000314103.5 + 8 855 c.704C>G c.(703-705)tCt>tGt p.S235C NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 AGCATGAAGTCTTTCTTCCGT 0.428000 5 363 0 0 0.001168 0 0 RFWD2 64326 broad.mit.edu 37 1 176132971 176132971 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:176132971C>G ENST00000367669.3 - 4 1136 c.622G>C c.(622-624)Gac>Cac p.D208H RFWD2_ENST00000308769.8_Missense_Mutation_p.D208H NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 208 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 ACTGAGTGGTCCAATTTGAAC 0.269000 4 34 0 0 0.009096 0 0 GOLGB1 2804 broad.mit.edu 37 3 121410077 121410077 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:121410077C>G ENST00000393667.3 - 14 8244 c.8134G>C c.(8134-8136)Gag>Cag p.E2712Q GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2707Q NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2707 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CTTGCTAGCTCTGCCACTCTC 0.378000 13 358 0 0 0.002450 0 0 ADRA1D 146 broad.mit.edu 37 20 4202275 4202275 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr20:4202275C>G ENST00000379453.4 - 2 1730 c.1614G>C c.(1612-1614)gaG>gaC p.E538D NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 538 KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) CAGCCTCCACCTCTGAGCGCT 0.692000 20 50 0 0 0.012319 0 0 F8 2157 broad.mit.edu 37 X 154225344 154225344 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:154225344C>T ENST00000360256.4 - 3 492 c.292G>A c.(292-294)Gag>Aag p.E98K NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 98 F5/8 type A 1.|Plastocyanin-like 1. E -> K (in HEMA; severe). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCATAAACCTCAGCCTGGATG 0.448000 37 157 0 0 0.004878 0 0 ZNF804A 91752 broad.mit.edu 37 2 185798393 185798393 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:185798393G>A ENST00000302277.6 + 3 913 c.319G>A c.(319-321)Gaa>Aaa p.E107K NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 107 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CAGGAAAGATGAAAGAAAACA 0.363000 4 41 0 0 0.009096 0 0 NAV1 89796 broad.mit.edu 37 1 201750208 201750208 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:201750208G>C ENST00000367296.4 + 5 1854 c.1434G>C c.(1432-1434)gaG>gaC p.E478D NAV1_ENST00000295624.6_Missense_Mutation_p.E478D|NAV1_ENST00000367302.1_Missense_Mutation_p.E491D|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.E478D|NAV1_ENST00000367295.1_Missense_Mutation_p.E87D|NAV1_ENST00000367297.4_Missense_Mutation_p.E478D NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 478 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AATCAGAGGAGAAAGCCCCTA 0.498000 4 74 0 0 0.000602 0 0 CDH12 1010 broad.mit.edu 37 5 22078740 22078740 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:22078740C>G ENST00000382254.1 - 5 1132 c.46G>C c.(46-48)Gat>Cat p.D16H CDH12_ENST00000504376.2_Missense_Mutation_p.D16H|CDH12_ENST00000522262.1_Missense_Mutation_p.D16H NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 16 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGACCTCCATCAAACAGAACC 0.443000 HNSCC(59;0.17) 11 389 0 0 0.008291 0 0 TANC1 85461 broad.mit.edu 37 2 160085383 160085383 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:160085383G>C ENST00000263635.6 + 26 4364 c.4127G>C c.(4126-4128)aGa>aCa p.R1376T TANC1_ENST00000454300.1_Missense_Mutation_p.R1270T NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1376 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TTTTATGCCAGAGCAAGAGCG 0.463000 15 70 0 0 0.003163 0 0 CUBN 8029 broad.mit.edu 37 10 16957095 16957095 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:16957095C>T ENST00000377833.4 - 47 7352 c.7287G>A c.(7285-7287)agG>agA p.R2429R NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2429 CUB 17. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTGTGACAAACCTGACCACAG 0.428000 20 59 0 0 0.010504 0 0 CDH8 1006 broad.mit.edu 37 16 61854982 61854982 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:61854982G>A ENST00000577390.1 - 6 1825 c.871C>T c.(871-873)Ctt>Ttt p.L291F CDH8_ENST00000299345.6_Missense_Mutation_p.L291F|CDH8_ENST00000584337.1_Missense_Mutation_p.L291F|CDH8_ENST00000577730.1_Missense_Mutation_p.L291F NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 291 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCAGTGCCAAGAACCACATCT 0.408000 9 24 0 0 0.004482 0 0 CDC5L 988 broad.mit.edu 37 6 44360561 44360561 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:44360561C>G ENST00000371477.3 + 3 606 c.307C>G c.(307-309)Ctt>Gtt p.L103V NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 103 HTH myb-type 2. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTATGAATTTCTTCTGTAAGT 0.373000 6 62 0 0 0.001168 0 0 ACY1 95 broad.mit.edu 37 3 52020495 52020495 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:52020495G>A ENST00000458031.2 + 9 1002 c.771G>A c.(769-771)ctG>ctA p.L257L ABHD14A-ACY1_ENST00000463937.1_Silent_p.L268L|ACY1_ENST00000494103.1_Intron|ACY1_ENST00000476854.1_Silent_p.L167L|ACY1_ENST00000476351.1_Silent_p.L132L|ACY1_ENST00000404366.2_Silent_p.L167L Q03154 ACY1_HUMAN aminoacylase 1 167 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) TCCACGCCCTGAGGGCAGGCT 0.617000 10 35 0 0 0.006214 0 0 MAP1LC3C 440738 broad.mit.edu 37 1 242159687 242159687 + Splice_Site SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:242159687C>G ENST00000357246.3 - 4 286 c.222G>C c.(220-222)cgG>cgC p.R74R NM_001004343.2 NP_001004343.1 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 gamma 74 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCATGCGGCTCCTGGGATGGG 0.557000 9 50 0 0 0.006214 0 0 AIF1 199 broad.mit.edu 37 6 31584599 31584599 + Silent SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:31584599G>C ENST00000376059.3 + 6 512 c.366G>C c.(364-366)ctG>ctC p.L122L AIF1_ENST00000376049.4_Silent_p.L68L NM_001623.3 NP_001614.3 P55008 AIF1_HUMAN allograft inflammatory factor 1 122 actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation nucleus|ruffle membrane actin filament binding|calcium ion binding lung(2)|ovary(1) 3 CCAGGATCCTGATGTATGAGG 0.498000 5 54 0 0 0.003080 0 0 C12orf66 144577 broad.mit.edu 37 12 64588242 64588242 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:64588242G>C ENST00000311915.8 - 3 745 c.718C>G c.(718-720)Ctg>Gtg p.L240V C12orf66_ENST00000398055.3_Missense_Mutation_p.L240V|C12orf66_ENST00000544871.1_Missense_Mutation_p.L187V Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 240 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 CCTCCAAACAGATGTTTCTTG 0.483000 11 38 0 0 0.013537 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786537 19786537 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:19786537C>G ENST00000341998.2 - 1 389 c.328G>C c.(328-330)Gag>Cag p.E110Q SLC24A2_ENST00000286344.3_Missense_Mutation_p.E110Q NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 110 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GTACTATTCTCAGACTCGCCT 0.438000 24 59 0 0 0.004656 0 0 EXPH5 23086 broad.mit.edu 37 11 108384027 108384027 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:108384027G>A ENST00000265843.4 - 6 2317 c.2207C>T c.(2206-2208)tCa>tTa p.S736L EXPH5_ENST00000443411.1_Missense_Mutation_p.S548L|EXPH5_ENST00000428840.1_Missense_Mutation_p.S660L|EXPH5_ENST00000525344.1_Missense_Mutation_p.S729L NM_015065.2 NP_055880 Q149M6 Q149M6_HUMAN exophilin 5 736 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) TAAAGAGTTTGAGATCCCTGT 0.393000 15 65 0 0 0.002450 0 0 ZNF616 90317 broad.mit.edu 37 19 52618827 52618827 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:52618827G>A ENST00000600228.1 - 4 1851 c.1590C>T c.(1588-1590)ttC>ttT p.F530F ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) AACGGTCACTGAAGACCTTGC 0.443000 18 74 0 0 0.007413 0 0 GTF2IRD2B 389524 broad.mit.edu 37 7 74564077 74564077 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:74564077C>T ENST00000312575.7 + 16 1999 c.1824C>T c.(1822-1824)atC>atT p.I608I GTF2IRD2B_ENST00000418185.2_Silent_p.I155I NM_001003795.2 NP_001003795.1 Q6EKJ0 GTD2B_HUMAN GTF2I repeat domain containing 2B 608 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|ovary(2)|prostate(1) 4 agttctgtatcaactggtcga 0.512000 38 71 0 0 0.004878 0 0 ZC3H13 23091 broad.mit.edu 37 13 46538069 46538069 + Missense_Mutation SNP A A C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr13:46538069A>C ENST00000242848.4 - 17 4928 c.4580T>G c.(4579-4581)aTg>aGg p.M1527R ZC3H13_ENST00000282007.3_Missense_Mutation_p.M1528R|ZC3H13_ENST00000378921.2_Missense_Mutation_p.M483R Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1527 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) AACTCTTAGCATAACAGCTCC 0.423000 21 30 0 0 0.010504 0 0 MOCS2 4338 broad.mit.edu 37 5 52396276 52396276 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:52396276C>A ENST00000396954.3 - 6 1143 c.466G>T c.(466-468)Gat>Tat p.D156Y MOCS2_ENST00000508922.1_Intron|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000582677.1_3'UTR NM_004531.3 NP_004522.1 O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 0 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) TTTAAAGTATCAATGGCATAG 0.388000 8 65 0.000274275 0.000829878 0.004482 1 0 RORA 6095 broad.mit.edu 37 15 60795025 60795025 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr15:60795025C>T ENST00000335670.6 - 8 1217 c.1117G>A c.(1117-1119)Gac>Aac p.D373N RORA_ENST00000261523.5_Missense_Mutation_p.D406N|RORA_ENST00000309157.4_Missense_Mutation_p.D398N|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.D318N|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A 406 Ligand-binding. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 TTCTGAGAGTCAAAGGCACGG 0.453000 42 271 0 0 0.009718 0 0 PCDH15 65217 broad.mit.edu 37 10 55839096 55839096 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:55839096C>T ENST00000373965.2 - 18 2501 c.2107G>A c.(2107-2109)Gat>Aat p.D703N PCDH15_ENST00000395432.2_Missense_Mutation_p.D659N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D625N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D696N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D696N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D703N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D696N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D674N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D696N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D674N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D701N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D307N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D696N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D696N NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 696 Cadherin 6. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTCACCCCATCTGGCCTGCCA 0.428000 HNSCC(58;0.16) 15 110 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179416911 179416911 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:179416911G>A ENST00000589042.1 - 335 90940 c.90716C>T c.(90715-90717)gCt>gTt p.A30239V TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21299V|TTN_ENST00000342992.6_Missense_Mutation_p.A27671V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A21174V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A28598V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21366V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28598 Fibronectin type-III 120. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACACTATCAGCCTTGATTTC 0.448000 14 87 0 0 0.001855 0 0 IWS1 55677 broad.mit.edu 37 2 128253645 128253645 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:128253645C>A ENST00000295321.4 - 7 1904 c.1645G>T c.(1645-1647)Ggt>Tgt p.G549C AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 549 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) AAGGTGCCACCATCGCGGTTC 0.478000 5 240 0.00116845 0.00350534 0.001168 1 0 POLH 5429 broad.mit.edu 37 6 43581801 43581801 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:43581801C>G ENST00000372236.4 + 11 1944 c.1649C>G c.(1648-1650)tCt>tGt p.S550C POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.S488C NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 550 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) TCTTCAGTTTCTTCCCCCCAA 0.423000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 4 148 0 0 0.001168 0 0 MYT1 4661 broad.mit.edu 37 20 62842624 62842624 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr20:62842624G>A ENST00000536311.1 + 8 1721 c.1357G>A c.(1357-1359)Gtt>Att p.V453I MYT1_ENST00000360149.4_Missense_Mutation_p.V155I|MYT1_ENST00000328439.1_Missense_Mutation_p.V453I Q01538 MYT1_HUMAN myelin transcription factor 1 453 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CACTGGCCACGTTACCGGGTT 0.542000 25 35 0 0 0.005443 0 0 IPO8 10526 broad.mit.edu 37 12 30787179 30787179 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:30787179G>C ENST00000256079.4 - 23 3075 c.2737C>G c.(2737-2739)Caa>Gaa p.Q913E IPO8_ENST00000544829.1_Missense_Mutation_p.Q708E NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 913 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TGCATTGCTTGAGCAGTTACA 0.388000 13 46 0 0 0.002450 0 0 PLA2G5 5322 broad.mit.edu 37 1 20412658 20412658 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:20412658C>T ENST00000375108.3 + 3 391 c.123C>T c.(121-123)taC>taT p.Y41Y PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 41 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) TGACAAACTACGGCTTCTACG 0.567000 23 45 0 0 0.005443 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48131869 48131869 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:48131869G>A ENST00000405493.2 - 27 2672 c.2463C>T c.(2461-2463)ctC>ctT p.L821L RAPGEF3_ENST00000389212.3_Silent_p.L863L|RAPGEF3_ENST00000449771.2_Silent_p.L863L|RAPGEF3_ENST00000549151.1_Silent_p.L821L|RAPGEF3_ENST00000171000.4_Silent_p.L821L|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Silent_p.L754L NM_001098532.2|NM_006105.5 NP_001092002|NP_006096 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 821 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TGAGTGGTGAGAGAGGCACTG 0.672000 6 10 0 0 0.001168 0 0 USP35 57558 broad.mit.edu 37 11 77918604 77918604 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:77918604G>A ENST00000529308.1 + 8 1681 c.1420G>A c.(1420-1422)Gag>Aag p.E474K USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.E205K|USP35_ENST00000441408.2_Missense_Mutation_p.E60K|USP35_ENST00000530267.1_Missense_Mutation_p.E42K NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 474 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CCGCTTGACTGAGAACAACTC 0.567000 9 113 0 0 0.008291 0 0 CSMD2 114784 broad.mit.edu 37 1 34254247 34254247 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:34254247C>G ENST00000373381.4 - 12 1793 c.1617G>C c.(1615-1617)caG>caC p.Q539H CSMD2_ENST00000338325.1_Missense_Mutation_p.Q147H NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 499 Sushi 3. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCCATCAGTCTGGAAGAGGA 0.517000 6 67 0 0 0.003080 0 0 TMC7 79905 broad.mit.edu 37 16 19058553 19058553 + Silent SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:19058553C>A ENST00000421369.3 + 12 1950 c.1392C>A c.(1390-1392)atC>atA p.I464I TMC7_ENST00000304381.5_Silent_p.I574I|TMC7_ENST00000569532.1_Silent_p.I574I NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 574 integral to membrane p.I574I(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 AATTCATTATCATCTTCTATG 0.502000 35 225 2.47316e-13 7.81813e-13 0.003271 1 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 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 5 18 0 0 0.000602 0 0 ZIM2 23619 broad.mit.edu 37 19 57286747 57286747 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:57286747G>A ENST00000391708.3 - 12 1435 c.893C>T c.(892-894)tCa>tTa p.S298L ZIM2_ENST00000599935.1_Missense_Mutation_p.S298L|ZIM2_ENST00000601070.1_Missense_Mutation_p.S298L|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.S298L|ZIM2_ENST00000593711.1_Missense_Mutation_p.S298L NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGGATCCTTTGATTGTTTACT 0.448000 24 30 0 0 0.002780 0 0 SOGA3 387104 broad.mit.edu 37 6 127796503 127796503 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:127796503C>T ENST00000556132.1 - 6 3532 c.2668G>A c.(2668-2670)Gac>Aac p.D890N SOGA3_ENST00000465909.2_Missense_Mutation_p.D890N|SOGA3_ENST00000368268.2_Missense_Mutation_p.D890N|SOGA3_ENST00000525778.1_Missense_Mutation_p.D890N|SOGA3_ENST00000481848.2_Missense_Mutation_p.D890N|SOGA3_ENST00000474293.2_5'UTR NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 890 integral to membrane TCGAGGCGGTCGATGAAGGTC 0.652000 13 69 0 0 0.003163 0 0 CLPP 8192 broad.mit.edu 37 19 6364637 6364637 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:6364637C>T ENST00000245816.4 + 4 665 c.542C>T c.(541-543)tCa>tTa p.S181L CLPP_ENST00000596605.1_Intron|CLPP_ENST00000596149.1_Missense_Mutation_p.S94L NM_006012.2 NP_006003.1 Q16740 CLPP_HUMAN caseinolytic mitochondrial matrix peptidase proteolytic subunit 181 proteolysis mitochondrial matrix ATP binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(2)|ovary(2) 6 CACCAGCCCTCAGGAGGCGCC 0.667000 5 22 0 0 0.000602 0 0 MCCC2 64087 broad.mit.edu 37 5 70945948 70945948 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:70945948G>C ENST00000340941.6 + 15 1555 c.1426G>C c.(1426-1428)Gag>Cag p.E476Q MCCC2_ENST00000323375.8_Missense_Mutation_p.E438Q NM_022132.4 NP_071415.1 Q9HCC0 MCCB_HUMAN methylcrotonoyl-CoA carboxylase 2 (beta) 476 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 30 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) GATGGGAGGAGAGCAGGCAGC 0.458000 11 52 0 0 0.001855 0 0 C9 735 broad.mit.edu 37 5 39306788 39306788 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:39306788C>T ENST00000263408.4 - 9 1442 c.1347G>A c.(1345-1347)gtG>gtA p.V449V NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 449 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) TCACATCAATCACGGTTCCTC 0.383000 13 125 0 0 0.001855 0 0 LRP1 4035 broad.mit.edu 37 12 57586655 57586655 + Missense_Mutation SNP A A G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:57586655A>G ENST00000243077.3 + 45 7923 c.7457A>G c.(7456-7458)aAc>aGc p.N2486S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2486 EGF-like 10. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGAATCAACAACGGTGGCTGC 0.622000 26 84 0 0 0.003954 0 0 FNBP1 23048 broad.mit.edu 37 9 132687318 132687318 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:132687318G>C ENST00000420781.1 - 9 1126 c.908C>G c.(907-909)tCc>tGc p.S303C FNBP1_ENST00000446176.2_Missense_Mutation_p.S303C|FNBP1_ENST00000355681.3_Missense_Mutation_p.S303C|FNBP1_ENST00000478129.1_5'UTR Q96RU3 FNBP1_HUMAN formin binding protein 1 303 Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) TTCTCCTCTGGAATTTGAAAG 0.423000 T MLL AML 4 33 0 0 0.009096 0 0 WAPAL 23063 broad.mit.edu 37 10 88211774 88211774 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:88211774C>T ENST00000298767.5 - 15 3536 c.3064G>A c.(3064-3066)Gat>Aat p.D1022N WAPAL_ENST00000263070.7_Intron|WAPAL_ENST00000372075.1_Intron NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 1022 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 CTTAAACTATCATCCCCTTCT 0.418000 29 40 0 0 0.009535 0 0 GFRA3 2676 broad.mit.edu 37 5 137593637 137593637 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:137593637G>A ENST00000274721.3 - 4 722 c.476C>T c.(475-477)tCa>tTa p.S159L GFRA3_ENST00000378362.3_Missense_Mutation_p.S128L NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 159 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GCAGAGGTCTGAGTCTGGGGG 0.627000 12 19 0 0 0.010729 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 8 29 0 0 0.003080 0 0 ELF4 2000 broad.mit.edu 37 X 129200776 129200776 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:129200776G>A ENST00000308167.5 - 9 2291 c.1912C>T c.(1912-1914)Ctg>Ttg p.L638L ELF4_ENST00000335997.7_Silent_p.L638L NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 638 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GATCTTGTCAGAAGGCTCCCA 0.572000 T ERG AML 7 199 0 0 0.001984 0 0 KCTD11 147040 broad.mit.edu 37 17 7256890 7256890 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:7256890G>A ENST00000333751.3 + 1 1683 c.629G>A c.(628-630)cGa>cAa p.R210Q RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 210 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) CACGGCTTCCGACTAGACTCT 0.647000 5 26 0 0 0.000602 0 0 TOP1MT 116447 broad.mit.edu 37 8 144411524 144411524 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:144411524C>T ENST00000523676.1 - 4 467 c.62G>A c.(61-63)cGa>cAa p.R21Q TOP1MT_ENST00000329245.4_Missense_Mutation_p.R119Q|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R21Q|TOP1MT_ENST00000521193.1_Missense_Mutation_p.R21Q Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 119 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) ACCTACCTTTCGCCAGTCATT 0.567000 7 93 0 0 0.001984 0 0 MUM1 84939 broad.mit.edu 37 19 1376574 1376574 + Nonstop_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:1376574G>C ENST00000311401.5 + 14 2314 c.1928G>C c.(1927-1929)tGa>tCa p.*643S MUM1_ENST00000591806.1_Nonstop_Mutation_p.*712S|MUM1_ENST00000344663.3_Nonstop_Mutation_p.*712S|MUM1_ENST00000591453.1_3'UTR|MUM1_ENST00000415183.3_3'UTR Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 0 chromatin organization|DNA repair nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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) CGCCGTCGGTGAGGGAGCAGC 0.547000 13 42 0 0 0.001855 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101214 27101214 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:27101214G>C ENST00000359193.2 + 1 383 c.364G>C c.(364-366)Gag>Cag p.E122Q NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 122 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding p.E122Q(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 CAAAAAGACTGAGAGCCACCA 0.547000 6 90 0 0 0.001984 0 0 FRMPD4 9758 broad.mit.edu 37 X 12712483 12712483 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:12712483G>C ENST00000380682.1 + 9 1349 c.843G>C c.(841-843)atG>atC p.M281I NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 281 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding p.M271I(1) breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CCCATAAGATGAGATGTCTTT 0.448000 5 77 0 0 0.000602 0 0 SNHG14 104472715 broad.mit.edu 37 15 25514954 25514954 + RNA SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr15:25514954G>A ENST00000554726.1 + 0 47 SNHG14_ENST00000452731.1_RNA|SNORD115-48_ENST00000364764.1_RNA ATGTTACCTTGAAGAGAAATG 0.408000 4 37 0 0 0.000602 0 0 KDELC1 79070 broad.mit.edu 37 13 103445990 103445990 + Missense_Mutation SNP C C G rs144061173 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr13:103445990C>G ENST00000376004.4 - 3 891 c.555G>C c.(553-555)caG>caC p.Q185H KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 185 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGCTCTGCCTCTGTCCAAATC 0.383000 5 103 0 0 0.001984 0 0 SYNE3 161176 broad.mit.edu 37 14 95921869 95921869 + Missense_Mutation SNP G G A rs145141808 byFrequency TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr14:95921869G>A ENST00000334258.5 - 5 996 c.982C>T c.(982-984)Cgg>Tgg p.R328W SYNE3_ENST00000557275.1_Missense_Mutation_p.R328W|SYNE3_ENST00000553340.1_Missense_Mutation_p.R328W|SYNE3_ENST00000554873.1_Missense_Mutation_p.R85W NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCCTGGACCGGAGCAGGCCC 0.637000 5 98 0 0 0.001168 0 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 163 0 0 0.001984 0 0 OR9A2 135924 broad.mit.edu 37 7 142724023 142724023 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:142724023G>C ENST00000350513.2 - 1 259 c.197C>G c.(196-198)tCt>tGt p.S66C NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) CTCCAGGGTAGAGAGGTGGCT 0.458000 14 114 0 0 0.004007 0 0 OR5D14 219436 broad.mit.edu 37 11 55563247 55563247 + Silent SNP T T C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:55563247T>C ENST00000335605.1 + 1 216 c.216T>C c.(214-216)gaT>gaC p.D72D NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) CTTTTGTTGATTTTTGTTACT 0.388000 43 29 0 0 0.010771 0 0 KAT2B 8850 broad.mit.edu 37 3 20164236 20164236 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:20164236G>A ENST00000263754.4 + 9 1808 c.1353G>A c.(1351-1353)atG>atA p.M451I NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 451 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 ATATTCCGATGGAATTAATCA 0.478000 19 34 0 0 0.008871 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650075 75650075 + Silent SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:75650075G>C ENST00000361470.2 + 1 2030 c.1752G>C c.(1750-1752)ctG>ctC p.L584L NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 584 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 TGGGCCTCCTGATGATGATTC 0.517000 5 17 0 0 0.001168 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86521058 86521058 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:86521058G>A ENST00000450689.2 - 21 3197 c.3012C>T c.(3010-3012)ctC>ctT p.L1004L KIAA1324L_ENST00000416314.1_Silent_p.L837L|KIAA1324L_ENST00000297222.6_Silent_p.L764L|KIAA1324L_ENST00000444627.1_Silent_p.L933L NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 1004 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) CCAAAGATTTGAGTTTTCCTA 0.393000 9 95 0 0 0.006214 0 0 TENM2 57451 broad.mit.edu 37 5 167674305 167674305 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:167674305G>C ENST00000519204.1 + 26 6116 c.5998G>C c.(5998-6000)Gag>Cag p.E2000Q TENM2_ENST00000518659.1_Missense_Mutation_p.E2121Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E2120Q|TENM2_ENST00000520394.1_Missense_Mutation_p.E1882Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E1945Q teneurin transmembrane protein 2 CCGCTATGATGAGATTTCTGG 0.483000 22 111 0 0 0.002780 0 0 ERCC6 2074 broad.mit.edu 37 10 50678385 50678385 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:50678385C>G ENST00000355832.5 - 18 3699 c.3621G>C c.(3619-3621)aaG>aaC p.K1207N ERCC6_ENST00000542458.1_Missense_Mutation_p.K577N|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1207 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GCTTAGAGTTCTTAGGCTTTT 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 5 260 0 0 0.000602 0 0 RBM15 64783 broad.mit.edu 37 1 110882292 110882292 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:110882292G>A ENST00000369784.3 + 1 1165 c.265G>A c.(265-267)Gat>Aat p.D89N RBM15_ENST00000487146.2_Missense_Mutation_p.D89N|RBM15_ENST00000602849.1_Missense_Mutation_p.D89N NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 89 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CGGAAAGACCGATAGCGGCGG 0.652000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 27 0 0 0.004990 0 0 DYRK3 8444 broad.mit.edu 37 1 206822066 206822066 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:206822066C>G ENST00000367106.1 + 4 1936 c.1463C>G c.(1462-1464)tCt>tGt p.S488C DYRK3_ENST00000367108.3_Missense_Mutation_p.S488C|DYRK3_ENST00000367109.2_Missense_Mutation_p.S508C|DYRK3_ENST00000489878.1_Intron O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 508 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) TGGGACCCCTCTGCCCGCTTG 0.537000 13 95 0 0 0.013537 0 0 ACTC1 70 broad.mit.edu 37 15 35084480 35084480 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr15:35084480C>T ENST00000290378.4 - 5 1274 c.619G>A c.(619-621)Gaa>Aaa p.E207K ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 207 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) ATTTCACGTTCAGCTACAGAA 0.473000 4 48 0 0 0.009096 0 0 ACIN1 22985 broad.mit.edu 37 14 23547473 23547473 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr14:23547473C>T ENST00000262710.1 - 8 2511 c.2184G>A c.(2182-2184)ggG>ggA p.G728G ACIN1_ENST00000555053.1_Silent_p.G728G|ACIN1_ENST00000457657.1_Silent_p.G688G|ACIN1_ENST00000605057.1_Silent_p.G670G|ACIN1_ENST00000555352.1_5'UTR NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 728 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCTTTGGGCTCCCCTGTCAGG 0.498000 5 65 0 0 0.000602 0 0 DOCK1 1793 broad.mit.edu 37 10 128840895 128840895 + Nonsense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:128840895C>T ENST00000280333.6 + 20 2063 c.1954C>T c.(1954-1956)Cag>Tag p.Q652* NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 652 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GCAGTTTCTTCAGGACACGTT 0.468000 7 86 0 0 0.001984 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146077608 146077608 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:146077608C>G ENST00000394413.3 - 3 838 c.268G>C c.(268-270)Gaa>Caa p.E90Q PPP2R2B_ENST00000336640.6_Missense_Mutation_p.E93Q|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.E79Q|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.E90Q|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.E90Q|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.E90Q|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.E96Q|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.E148Q|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E156Q|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E79Q Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 90 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGATTTTTTCTTCTATTTCT 0.388000 15 94 0 0 0.004990 0 0 PRKDC 5591 broad.mit.edu 37 8 48731993 48731993 + Nonsense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:48731993G>A ENST00000314191.2 - 68 9468 c.9412C>T c.(9412-9414)Cag>Tag p.Q3138* PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q3138*|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3139 FAT.|KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATGAACTCCTGAATTTCTGTT 0.284000 Non-homologous end-joining 10 82 0 0 0.013537 0 0 ZPBP 11055 broad.mit.edu 37 7 50121408 50121408 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:50121408G>A ENST00000046087.2 - 3 365 c.296C>T c.(295-297)tCa>tTa p.S99L ZPBP_ENST00000419417.1_Missense_Mutation_p.S99L NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 99 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) CCATTGGAATGATGGGTCTAT 0.358000 5 53 0 0 0.000602 0 0 MAGI2 9863 broad.mit.edu 37 7 77649004 77649004 + Silent SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:77649004G>C ENST00000354212.4 - 22 4249 c.3996C>G c.(3994-3996)ccC>ccG p.P1332P MAGI2_ENST00000419488.1_Silent_p.P1318P|MAGI2_ENST00000522391.1_3'UTR NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1332 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) cctggccgccgggcgccTCCT 0.816000 6 7 0 0 0.001168 0 0 P4HA3 283208 broad.mit.edu 37 11 73997313 73997313 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:73997313C>G ENST00000331597.4 - 6 938 c.893G>C c.(892-894)aGa>aCa p.R298T P4HA3_ENST00000427714.2_Missense_Mutation_p.R298T NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 298 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) GTAGGTGTCTCTGGTCTGCAG 0.542000 4 173 0 0 0.009096 0 0 POLH 5429 broad.mit.edu 37 6 43581462 43581462 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:43581462C>G ENST00000372236.4 + 11 1605 c.1310C>G c.(1309-1311)tCt>tGt p.S437C POLH_ENST00000372226.1_Intron|POLH_ENST00000535400.1_Missense_Mutation_p.S375C NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 437 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CCTTCATCTTCTACAGACATC 0.473000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 4 202 0 0 0.009096 0 0 RPL11 6135 broad.mit.edu 37 1 24020313 24020313 + Silent SNP A A G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:24020313A>G ENST00000374550.3 + 3 219 c.174A>G c.(172-174)agA>agG p.R58R RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 58 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) ACACTGTCAGATCCTTTGGCA 0.493000 8 31 0 0 0.003080 0 0 SLC27A2 11001 broad.mit.edu 37 15 50475065 50475065 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr15:50475065C>G ENST00000267842.5 + 1 673 c.441C>G c.(439-441)ttC>ttG p.F147L SLC27A2_ENST00000380902.4_Missense_Mutation_p.F147L NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 147 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) TGCACTGCTTCCAGTGCTGCG 0.667000 18 218 0 0 0.008871 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962661 41962661 + RNA SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:41962661G>A ENST00000454645.1 - 0 843 NR_003670.1 TTTCCCCTCCGTTGTTTGTCC 0.368000 4 20 0 0 0.001168 0 0 BCAN 63827 broad.mit.edu 37 1 156621263 156621263 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:156621263C>T ENST00000329117.5 + 7 1415 c.1079C>T c.(1078-1080)tCt>tTt p.S360F BCAN_ENST00000361588.5_Missense_Mutation_p.S360F|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCCAGCCTTCTGCCATCCCT 0.577000 7 67 0 0 0.004482 0 0 PBRM1 55193 broad.mit.edu 37 3 52598085 52598085 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:52598085C>T ENST00000356770.4 - 22 3762 c.3760G>A c.(3760-3762)Gat>Aat p.D1254N PBRM1_ENST00000409767.1_Missense_Mutation_p.D1301N|PBRM1_ENST00000337303.4_Missense_Mutation_p.D1286N|PBRM1_ENST00000410007.1_Missense_Mutation_p.D1261N|PBRM1_ENST00000409057.1_Missense_Mutation_p.D1286N|PBRM1_ENST00000296302.7_Missense_Mutation_p.D1286N|PBRM1_ENST00000394830.3_Missense_Mutation_p.D1261N|PBRM1_ENST00000409114.3_Missense_Mutation_p.D1301N|SMIM4_ENST00000476842.1_Intron Q86U86 PB1_HUMAN polybromo 1 1286 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TAAATTTCATCATCTACCACT 0.363000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 23 30 0 0 0.014323 0 0 KCNH5 27133 broad.mit.edu 37 14 63416985 63416985 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr14:63416985C>T ENST00000322893.7 - 7 1503 c.1235G>A c.(1234-1236)gGa>gAa p.G412E KCNH5_ENST00000394968.1_Missense_Mutation_p.G354E|KCNH5_ENST00000394964.2_Missense_Mutation_p.G354E|KCNH5_ENST00000420622.2_Missense_Mutation_p.G412E NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 412 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTGCTGGGTCCTCCTTCCCA 0.473000 7 69 0 0 0.001984 0 0 SLC16A1 6566 broad.mit.edu 37 1 113456600 113456600 + Silent SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:113456600C>A ENST00000538576.1 - 5 2247 c.1416G>T c.(1414-1416)ggG>ggT p.G472G SLC16A1_ENST00000369626.3_Silent_p.G472G NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 472 G -> R (in SDLT). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) CATTTGGCTTCCCAGCAACAT 0.468000 39 126 5.04308e-16 1.59899e-15 0.006230 1 0 ITPRIPL1 150771 broad.mit.edu 37 2 96992571 96992571 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:96992571C>G ENST00000361124.4 + 1 637 c.226C>G c.(226-228)Cag>Gag p.Q76E ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.Q60E|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.Q60E|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.Q68E NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 68 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGCCGCTGAGCAGAGGCAGAA 0.567000 4 51 0 0 0.000602 0 0 TTC12 54970 broad.mit.edu 37 11 113235556 113235556 + Splice_Site SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:113235556G>C ENST00000529221.1 + 21 1921 c.e21-1 TTC12_ENST00000314756.3_Splice_Site|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000483239.2_Splice_Site NM_017868.3 NP_060338.3 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TTTCCCTGCAGAGTTGAGCGT 0.547000 4 25 0 0 0.009096 0 0 METTL6 131965 broad.mit.edu 37 3 15466485 15466485 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:15466485G>A ENST00000443029.1 - 3 577 c.337C>T c.(337-339)Cca>Tca p.P113S METTL6_ENST00000383789.5_Missense_Mutation_p.P113S|METTL6_ENST00000450816.2_Intron|METTL6_ENST00000383790.3_Missense_Mutation_p.P113S Q8TCB7 METL6_HUMAN methyltransferase like 6 113 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 ATGGCTCTTGGAGAAAAATCA 0.383000 8 60 0 0 0.004482 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11859381 11859381 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:11859381G>A ENST00000396516.2 - 13 1880 c.1683C>T c.(1681-1683)ctC>ctT p.L561L ZC3H7A_ENST00000355758.4_Silent_p.L561L Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 561 nucleus nucleic acid binding|zinc ion binding p.L561L(1) breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 GATGCTCCTGGAGAAGTTTGA 0.443000 16 69 0 0 0.004990 0 0 HOXA7 3204 broad.mit.edu 37 7 27196019 27196019 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:27196019G>A ENST00000242159.3 - 1 279 c.146C>T c.(145-147)tCg>tTg p.S49L NM_006896.3 NP_008827.2 P31268 HXA7_HUMAN homeobox A7 49 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 CGGAACGGTCGAGGCGAAGGC 0.647000 55 86 0 0 0.014410 0 0 GNAL 2774 broad.mit.edu 37 18 11752907 11752907 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr18:11752907C>T ENST00000334049.6 + 2 1040 c.432C>T c.(430-432)gtC>gtT p.V144V GNAL_ENST00000269162.5_Silent_p.V67V|GNAL_ENST00000423027.3_Silent_p.V67V|GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000535121.1_Silent_p.V67V NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 67 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 TCCTGCACGTCAATGGGTTTA 0.463000 5 70 0 0 0.000602 0 0 DNMT3L 29947 broad.mit.edu 37 21 45670792 45670792 + Silent SNP T T C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr21:45670792T>C ENST00000270172.3 - 10 1293 c.810A>G c.(808-810)gcA>gcG p.A270A AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000418993.1_Silent_p.A270A NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 270 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) GCTTGGGCCGTGCGTACTGCA 0.662000 8 32 0 0 0.003080 0 0 IBTK 25998 broad.mit.edu 37 6 82909958 82909958 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:82909958G>A ENST00000306270.7 - 21 3474 c.2925C>T c.(2923-2925)ttC>ttT p.F975F IBTK_ENST00000503631.1_Silent_p.F774F|IBTK_ENST00000510291.1_Silent_p.F975F NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 975 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TTGCTTTCTTGAACATAGTTT 0.348000 12 104 0 0 0.002450 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:37868208C>A ENST00000406381.2 + 10 1349 c.839C>A c.(838-840)tCc>tAc p.S280Y ERBB2_ENST00000584601.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310Y|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280Y|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310Y NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 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 p.S310F(6)|p.S310Y(1) 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) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 14 300 4.36969e-10 1.36908e-09 0.001855 1 0 NEB 4703 broad.mit.edu 37 2 152470966 152470966 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:152470966C>G ENST00000427231.2 - 77 11627 c.11425G>C c.(11425-11427)Gag>Cag p.E3809Q NEB_ENST00000172853.10_Missense_Mutation_p.E3566Q|NEB_ENST00000604864.1_Missense_Mutation_p.E3809Q|NEB_ENST00000397345.3_Missense_Mutation_p.E3809Q|NEB_ENST00000409198.1_Missense_Mutation_p.E3566Q|NEB_ENST00000603639.1_Missense_Mutation_p.E3809Q NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 3809 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) TTCCACTTCTCAAACTCCTTC 0.522000 103 154 0 0 0.014410 0 0 CYP4F3 4051 broad.mit.edu 37 19 15760759 15760759 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:15760759C>T ENST00000221307.8 + 7 731 c.684C>T c.(682-684)ctC>ctT p.L228L CYP4F3_ENST00000585846.1_Silent_p.L228L|CYP4F3_ENST00000591058.1_Silent_p.L228L|CYP4F3_ENST00000586182.2_Silent_p.L228L NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.L228L(1) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TCTTGGAGCTCAGTGCCCTTG 0.532000 22 117 0 0 0.002780 0 0 ELP5 23587 broad.mit.edu 37 17 7156274 7156274 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:7156274G>C ENST00000574993.1 + 3 410 c.193G>C c.(193-195)Gag>Cag p.E65Q RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Missense_Mutation_p.E65Q|ELP5_ENST00000396627.2_Missense_Mutation_p.E65Q|ELP5_ENST00000574255.1_Missense_Mutation_p.E65Q|ELP5_ENST00000354429.2_Missense_Mutation_p.E65Q|ELP5_ENST00000396628.2_Missense_Mutation_p.E65Q|ELP5_ENST00000573657.1_Missense_Mutation_p.E65Q elongator acetyltransferase complex subunit 5 TGAAGTGAGCGAGGAAGAGTT 0.458000 5 52 0 0 0.001168 0 0 CHD5 26038 broad.mit.edu 37 1 6202244 6202244 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:6202244C>T ENST00000262450.3 - 15 2479 c.2380G>A c.(2380-2382)Gag>Aag p.E794K CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 794 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AAGGAAAACTCGTTCTCCCGA 0.572000 51 94 0 0 0.014410 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650121 75650121 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:75650121G>A ENST00000361470.2 + 1 2076 c.1798G>A c.(1798-1800)Gag>Aag p.E600K NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 600 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane p.E600*(4) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCAAGCCAAGGAGGCTGAGAT 0.502000 9 17 0 0 0.008291 0 0 TLN2 83660 broad.mit.edu 37 15 63097917 63097917 + Missense_Mutation SNP A A G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr15:63097917A>G ENST00000561311.1 + 50 6826 c.6596A>G c.(6595-6597)cAg>cGg p.Q2199R TLN2_ENST00000306829.6_Missense_Mutation_p.Q2199R Q9Y4G6 TLN2_HUMAN talin 2 2199 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TCATGTAGACAGGAGGACGTG 0.502000 10 34 0 0 0.013537 0 0 SLC16A10 117247 broad.mit.edu 37 6 111543275 111543275 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:111543275G>A ENST00000368850.3 + 5 929 c.443G>A c.(442-444)gGa>gAa p.G148E SLC16A10_ENST00000368851.5_Missense_Mutation_p.G462E Q8TF71 MOT10_HUMAN solute carrier family 16 (aromatic amino acid transporter), member 10 462 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) CCCCTTATTGGAGGTGCTGTG 0.458000 8 84 0 0 0.006214 0 0 AXIN2 8313 broad.mit.edu 37 17 63554266 63554266 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:63554266C>G ENST00000307078.5 - 2 786 c.473G>C c.(472-474)aGa>aCa p.R158T AXIN2_ENST00000375702.5_Missense_Mutation_p.R158T|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 158 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GATGCCATCTCTTATGTAGGT 0.463000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 16 92 0 0 0.004007 0 0 CERS4 79603 broad.mit.edu 37 19 8319426 8319426 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:8319426C>G ENST00000558331.1 + 4 523 c.64C>G c.(64-66)Cag>Gag p.Q22E CERS4_ENST00000559336.1_Missense_Mutation_p.Q73E|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.Q73E|CERS4_ENST00000251363.5_Missense_Mutation_p.Q73E Q9HA82 CERS4_HUMAN ceramide synthase 4 73 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TGTGAGGGATCAGACCAGGAG 0.622000 4 14 0 0 0.000602 0 0 ZNF16 7564 broad.mit.edu 37 8 146171546 146171546 + Nonsense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:146171546G>C ENST00000276816.4 - 3 233 c.47C>G c.(46-48)tCa>tGa p.S16* ZNF16_ENST00000394909.2_Nonsense_Mutation_p.S16* NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TCCTGGAACTGAGAGCTCCAT 0.612000 36 25 0 0 0.004289 0 0 CSMD1 64478 broad.mit.edu 37 8 2820893 2820893 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:2820893G>A ENST00000602557.1 - 61 9863 c.9308C>T c.(9307-9309)cCg>cTg p.P3103L CSMD1_ENST00000520002.1_Missense_Mutation_p.P3103L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2926L|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2926L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3102L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2925L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3103 Sushi 25. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATTCTGCACCGGCGGCGGCTG 0.542000 10 180 0 0 0.013537 0 0 DNAJC4 3338 broad.mit.edu 37 11 64000337 64000337 + Splice_Site SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:64000337G>A ENST00000321685.3 + 5 992 c.527G>A c.(526-528)aGg>aAg p.R176K RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Splice_Site_p.R177K|DNAJC4_ENST00000355040.4_Intron|RP11-783K16.14_ENST00000534988.1_RNA NM_005528.3 NP_005519.2 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 176 protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding endometrium(1)|lung(1)|prostate(1) 3 ATTGCCTTCAGGTGATGCCTG 0.602000 28 22 0 0 0.009535 0 0 CUL3 8452 broad.mit.edu 37 2 225343033 225343033 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:225343033C>G ENST00000264414.4 - 15 2397 c.2059G>C c.(2059-2061)Gag>Cag p.E687Q CUL3_ENST00000409096.1_Missense_Mutation_p.E663Q|CUL3_ENST00000409777.1_Missense_Mutation_p.E663Q|CUL3_ENST00000344951.4_Missense_Mutation_p.E621Q NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 687 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCTTTCCTCTCTGGGTCGGAT 0.338000 4 71 0 0 0.009096 0 0 ITIH5 80760 broad.mit.edu 37 10 7618424 7618424 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:7618424G>A ENST00000256861.6 - 10 2048 c.1970C>T c.(1969-1971)aCg>aTg p.T657M ITIH5_ENST00000397145.2_Missense_Mutation_p.T657M|ITIH5_ENST00000446830.2_Missense_Mutation_p.T439M|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.T657M|ITIH5_ENST00000298441.6_Missense_Mutation_p.T443M NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 657 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ACCTGGCTGCGTGCCAGCTCC 0.682000 14 12 0 0 0.002450 0 0 ANK1 286 broad.mit.edu 37 8 41550342 41550342 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:41550342G>C ENST00000396942.1 - 31 3765 c.3682C>G c.(3682-3684)Ctg>Gtg p.L1228V ANK1_ENST00000379758.2_Missense_Mutation_p.L1228V|ANK1_ENST00000265709.8_Missense_Mutation_p.L1269V|ANK1_ENST00000352337.4_Missense_Mutation_p.L1228V|ANK1_ENST00000289734.7_Missense_Mutation_p.L1228V|ANK1_ENST00000347528.4_Missense_Mutation_p.L1228V|ANK1_ENST00000396945.1_Missense_Mutation_p.L1228V P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1228 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTGTACAGCAGGGTGGCAAAG 0.542000 19 286 0 0 0.008871 0 0 NUP210L 91181 broad.mit.edu 37 1 154090258 154090258 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:154090258C>T ENST00000368559.3 - 12 1634 c.1563G>A c.(1561-1563)ggG>ggA p.G521G NUP210L_ENST00000271854.3_Silent_p.G521G NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 521 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAGTACTATTCCCCCTGACCT 0.448000 11 120 0 0 0.010729 0 0 PRKG2 5593 broad.mit.edu 37 4 82010927 82010927 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr4:82010927C>G ENST00000395578.1 - 19 2340 c.2224G>C c.(2224-2226)Gac>Cac p.D742H PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.D322H|PRKG2_ENST00000418486.2_Missense_Mutation_p.D713H|PRKG2_ENST00000264399.1_Missense_Mutation_p.D742H Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 742 AGC-kinase C-terminal. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 GGATATTTGTCAAAGTAGCTG 0.388000 25 25 0 0 0.006320 0 0 ATRX 546 broad.mit.edu 37 X 76938032 76938032 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:76938032C>T ENST00000373344.5 - 9 2930 c.2716G>A c.(2716-2718)Gat>Aat p.D906N ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D868N NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 906 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GGAAGTCGATCTCTTAATTCC 0.413000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 35 212 0 0 0.003271 0 0 CPN1 1369 broad.mit.edu 37 10 101825069 101825069 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:101825069G>A ENST00000370418.3 - 4 886 c.635C>T c.(634-636)tCa>tTa p.S212L NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 212 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) GAGATTGGCTGAAAGAACAAA 0.647000 4 35 0 0 0.009096 0 0 SSFA2 6744 broad.mit.edu 37 2 182786990 182786990 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:182786990G>C ENST00000431877.2 + 16 3705 c.3526G>C c.(3526-3528)Gag>Cag p.E1176Q SSFA2_ENST00000409136.1_Missense_Mutation_p.E685Q|SSFA2_ENST00000320370.7_Missense_Mutation_p.E1176Q|SSFA2_ENST00000428267.2_Missense_Mutation_p.E1001Q|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409001.1_Missense_Mutation_p.E1154Q NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 1176 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GGAAAGTTCTGAGGAAGTTGA 0.507000 12 77 0 0 0.001855 0 0 ANXA9 8416 broad.mit.edu 37 1 150967160 150967160 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:150967160C>T ENST00000368947.4 + 13 1436 c.960C>T c.(958-960)ctC>ctT p.L320L NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 320 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGAAGTCCCTCTACTCTTCTC 0.502000 42 94 0 0 0.009718 0 0 CHST14 113189 broad.mit.edu 37 15 40764358 40764358 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr15:40764358C>T ENST00000306243.5 + 1 1199 c.946C>T c.(946-948)Cca>Tca p.P316S CHST14_ENST00000559991.1_Missense_Mutation_p.P291S NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 316 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) GGTACGGGCACCACCTCACGT 0.627000 31 68 0 0 0.009535 0 0 TAS2R9 50835 broad.mit.edu 37 12 10961883 10961883 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:10961883C>G ENST00000240691.2 - 1 884 c.792G>C c.(790-792)ttG>ttC p.L264F NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 264 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CACCAATCATCAACACTAATT 0.398000 30 37 0 0 0.009535 0 0 ADAM23 8745 broad.mit.edu 37 2 207345997 207345997 + Silent SNP C C T rs141683172 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:207345997C>T ENST00000264377.3 + 3 802 c.474C>T c.(472-474)ttC>ttT p.F158F ADAM23_ENST00000374416.1_Silent_p.F158F|ADAM23_ENST00000374415.3_Silent_p.F158F NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 158 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TTGAAGCCTTCGGCTCCAAAT 0.383000 5 36 0 0 0.001984 0 0 AMOT 154796 broad.mit.edu 37 X 112054509 112054509 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:112054509C>T ENST00000371959.3 - 3 1504 c.1505G>A c.(1504-1506)cGg>cAg p.R502Q AMOT_ENST00000371958.1_Missense_Mutation_p.R270Q|AMOT_ENST00000524145.1_Missense_Mutation_p.R502Q|AMOT_ENST00000304758.1_Missense_Mutation_p.R93Q|AMOT_ENST00000371962.1_Missense_Mutation_p.R270Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 502 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 ATGCATCCTCCGAATCTCGCC 0.517000 64 145 0 0 0.014410 0 0 EXOC6B 23233 broad.mit.edu 37 2 72802653 72802653 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:72802653G>A ENST00000272427.6 - 7 944 c.814C>T c.(814-816)Ctg>Ttg p.L272L EXOC6B_ENST00000410104.1_Silent_p.L272L NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 272 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TCAACATCCAGAATTCCTGAA 0.358000 6 45 0 0 0.001168 0 0 ANKS1A 23294 broad.mit.edu 37 6 34953014 34953014 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr6:34953014G>A ENST00000360359.3 + 8 1306 c.1168G>A c.(1168-1170)Gag>Aag p.E390K ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 390 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CACGAACAAGGAGGCTGAGGC 0.592000 8 76 0 0 0.004482 0 0 NEDD4L 23327 broad.mit.edu 37 18 56018254 56018254 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr18:56018254G>A ENST00000456986.1 + 18 1922 c.1322G>A c.(1321-1323)gGc>gAc p.G441D NEDD4L_ENST00000356462.6_Missense_Mutation_p.G498D|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G421D|NEDD4L_ENST00000400345.3_Missense_Mutation_p.G562D|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G421D|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G554D|NEDD4L_ENST00000256830.9_Missense_Mutation_p.G458D|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G441D|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G542D|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G421D|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G534D NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 562 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 CACTTGGATGGCCGAACGTTT 0.423000 3 3 0 0 0.004672 0 0 C1orf172 126695 broad.mit.edu 37 1 27278098 27278098 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:27278098C>G ENST00000320567.5 - 2 862 c.774G>C c.(772-774)gaG>gaC p.E258D NM_152365.2 NP_689578.2 Q8NAX2 CA172_HUMAN chromosome 1 open reading frame 172 258 NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) ACTTGGCCAGCTCATCGATCT 0.537000 6 29 0 0 0.001984 0 0 FAM35A 54537 broad.mit.edu 37 10 88939920 88939920 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:88939920G>A ENST00000298786.4 + 8 2373 c.2259G>A c.(2257-2259)ctG>ctA p.L753L FAM35A_ENST00000298784.1_Silent_p.L684L Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 684 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 ACAGTTCTCTGAAGAGTATTT 0.388000 8 73 0 0 0.006214 0 0 ADAD1 132612 broad.mit.edu 37 4 123332470 123332470 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr4:123332470C>G ENST00000296513.2 + 9 1127 c.942C>G c.(940-942)ctC>ctG p.L314L ADAD1_ENST00000388725.2_Silent_p.L296L|ADAD1_ENST00000388724.2_Silent_p.L303L NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 314 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTAATCTACTCACTCTTAAAC 0.328000 4 41 0 0 0.009096 0 0 ABCD4 5826 broad.mit.edu 37 14 74753514 74753514 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr14:74753514C>G ENST00000356924.4 - 18 1785 c.1642G>C c.(1642-1644)Gat>Cat p.D548H ABCD4_ENST00000298816.7_Missense_Mutation_p.D444H NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 548 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) GTGGCTTCATCAAGCACTGAG 0.612000 3 27 0 0 0.004672 0 0 TCEAL8 90843 broad.mit.edu 37 X 102508574 102508574 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:102508574G>C ENST00000372685.3 - 3 570 c.334C>G c.(334-336)Cct>Gct p.P112A TCEAL8_ENST00000360000.4_Missense_Mutation_p.P112A NM_153333.2 NP_699164.1 Q8IYN2 TCAL8_HUMAN transcription elongation factor A (SII)-like 8 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|lung(1)|ovary(1) 4 aagcacacaggataaggacgg 0.393000 4 85 0 0 0.009096 0 0 TCF20 6942 broad.mit.edu 37 22 42609223 42609223 + Nonsense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr22:42609223C>A ENST00000359486.3 - 1 2225 c.2089G>T c.(2089-2091)Gag>Tag p.E697* TCF20_ENST00000335626.4_Nonsense_Mutation_p.E697* NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 697 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TTGCTAGGCTCAGTTCTGCTC 0.498000 21 94 8.04996e-18 2.56003e-17 0.012319 1 0 DNAJC11 55735 broad.mit.edu 37 1 6761824 6761824 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:6761824C>T ENST00000377577.5 - 1 160 c.37G>A c.(37-39)Gaa>Aaa p.E13K DNAJC11_ENST00000294401.7_Missense_Mutation_p.E13K|DNAJC11_ENST00000377573.5_5'UTR NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 13 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TAATAGTCTTCATTGTCCAGC 0.657000 6 7 0 0 0.001984 0 0 CACNA1E 777 broad.mit.edu 37 1 181732601 181732601 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:181732601C>T ENST00000526775.1 + 33 4857 c.4692C>T c.(4690-4692)ctC>ctT p.L1564L CACNA1E_ENST00000367573.2_Silent_p.L1583L|CACNA1E_ENST00000367567.4_Silent_p.L1190L|CACNA1E_ENST00000357570.5_Silent_p.L1534L|CACNA1E_ENST00000367570.1_Silent_p.L1583L|CACNA1E_ENST00000358338.5_Silent_p.L1515L|CACNA1E_ENST00000360108.3_Silent_p.L1564L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1583 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTGCCCGCCTCATAAAGCTCC 0.478000 12 60 0 0 0.013537 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 64 0 0 0.000602 0 0 CACHD1 57685 broad.mit.edu 37 1 65139035 65139035 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:65139035C>T ENST00000371073.2 + 19 2615 c.2615C>T c.(2614-2616)cCc>cTc p.P872L CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P821L Q5VU97 CAHD1_HUMAN cache domain containing 1 872 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGGTAGGAGCCCCTGGTAGCA 0.458000 32 86 0 0 0.012213 0 0 ZNF468 90333 broad.mit.edu 37 19 53344845 53344845 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:53344845C>G ENST00000595646.1 - 4 822 c.702G>C c.(700-702)caG>caC p.Q234H ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.Q181H|ZNF468_ENST00000396409.4_Missense_Mutation_p.Q181H Q5VIY5 ZN468_HUMAN zinc finger protein 468 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) AGTGAATTATCTGATGTTTTT 0.363000 38 42 0 0 0.004878 0 0 S1PR4 8698 broad.mit.edu 37 19 3179881 3179881 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:3179881C>T ENST00000246115.3 + 1 1146 c.1091C>T c.(1090-1092)tCc>tTc p.S364F NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 364 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 TTTCGCGGCTCCCGCTCGCTC 0.672000 14 102 0 0 0.003163 0 0 OLAH 55301 broad.mit.edu 37 10 15115139 15115139 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:15115139C>G ENST00000378217.3 + 9 1055 c.868C>G c.(868-870)Cac>Gac p.H290D OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378228.3_Missense_Mutation_p.H237D NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 237 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 TCCAGGGGGTCACTTTTATCT 0.353000 32 44 0 0 0.012213 0 0 LCP2 3937 broad.mit.edu 37 5 169675741 169675741 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:169675741C>T ENST00000046794.5 - 21 2177 c.1562G>A c.(1561-1563)aGa>aAa p.R521K LCP2_ENST00000521416.1_Missense_Mutation_p.R316K|C5orf58_ENST00000517575.1_Intron NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 521 SH2. immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) GCACTGGTATCTGGAACCTCG 0.458000 18 164 0 0 0.006122 0 0 WDR66 144406 broad.mit.edu 37 12 122396869 122396869 + Missense_Mutation SNP T T G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:122396869T>G ENST00000288912.4 + 13 2856 c.2002T>G c.(2002-2004)Ttt>Gtt p.F668V WDR66_ENST00000397454.2_Missense_Mutation_p.F668V NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 668 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TGGAGCTGGCTTTACAGAGGG 0.423000 9 48 0 0 0.004482 0 0 CHST1 8534 broad.mit.edu 37 11 45672447 45672447 + Silent SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:45672447G>C ENST00000308064.2 - 4 697 c.27C>G c.(25-27)ctC>ctG p.L9L NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 9 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGGCAAGGAGGAGGACGGCCT 0.657000 10 14 0 0 0.008291 0 0 C9orf3 84909 broad.mit.edu 37 9 97522387 97522387 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:97522387G>C ENST00000375315.2 + 1 322 c.322G>C c.(322-324)Gat>Cat p.D108H C9orf3_ENST00000277198.2_Missense_Mutation_p.D108H|C9orf3_ENST00000297979.5_Missense_Mutation_p.D108H NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 108 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AGGTGAAAAAGATACTTCTGA 0.423000 5 143 0 0 0.000602 0 0 PDZD7 79955 broad.mit.edu 37 10 102781615 102781615 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:102781615G>C ENST00000370215.3 - 6 1032 c.807C>G c.(805-807)atC>atG p.I269M NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 269 PDZ 2. cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GGCTGTGGCTGATGTCGTCAA 0.612000 5 98 0 0 0.000602 0 0 PUM1 9698 broad.mit.edu 37 1 31437662 31437662 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:31437662C>T ENST00000373747.3 - 14 2284 c.2185G>A c.(2185-2187)Gga>Aga p.G729R PUM1_ENST00000257075.5_Missense_Mutation_p.G728R|PUM1_ENST00000373742.2_Missense_Mutation_p.G669R|PUM1_ENST00000426105.2_Missense_Mutation_p.G728R|PUM1_ENST00000440538.2_Missense_Mutation_p.G702R|PUM1_ENST00000423018.2_Missense_Mutation_p.G584R|PUM1_ENST00000424085.2_Missense_Mutation_p.G486R|PUM1_ENST00000373741.4_Missense_Mutation_p.G764R NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 728 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) AAACTGTGTCCAATGGGGGTC 0.547000 9 95 0 0 0.006214 0 0 METTL3 56339 broad.mit.edu 37 14 21967257 21967257 + Missense_Mutation SNP C C A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr14:21967257C>A ENST00000298717.4 - 10 1694 c.1543G>T c.(1543-1545)Gat>Tat p.D515Y TOX4_ENST00000405508.1_3'UTR|TOX4_ENST00000262709.3_3'UTR NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 515 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) TAGATTTCATCTGGTTTATGA 0.393000 9 61 1.76689e-08 5.48721e-08 0.006214 1 0 C9orf3 84909 broad.mit.edu 37 9 97522479 97522479 + Silent SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:97522479G>C ENST00000375315.2 + 1 414 c.414G>C c.(412-414)ggG>ggC p.G138G C9orf3_ENST00000277198.2_Silent_p.G138G|C9orf3_ENST00000297979.5_Silent_p.G138G NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 138 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GGAATCATGGGAGTGAGGATT 0.423000 10 205 0 0 0.006214 0 0 MLH1 4292 broad.mit.edu 37 3 37035095 37035095 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:37035095C>T ENST00000231790.2 + 1 273 c.57C>T c.(55-57)atC>atT p.I19I NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 19 I -> F (in HNPCC2; uncertain pathogenicity). mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 TGAACCGCATCGCGGCGGGGG 0.567000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 10 78 0 0 0.013537 0 0 PACS1 55690 broad.mit.edu 37 11 65988244 65988244 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:65988244C>T ENST00000320580.4 + 9 1214 c.1181C>T c.(1180-1182)aCg>aTg p.T394M NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 394 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 ATCCTCAGCACGCCAAAGCCC 0.572000 11 17 0 0 0.010729 0 0 TRAF4 9618 broad.mit.edu 37 17 27071271 27071271 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:27071271C>G ENST00000262395.5 + 1 270 c.141C>G c.(139-141)ctC>ctG p.L47L TRAF4_ENST00000262396.6_Silent_p.L47L|TRAF4_ENST00000444415.3_Silent_p.L47L NM_004295.3 NP_004286.2 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 47 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) AGGAGTTCCTCAGGTGCTGGC 0.736000 9 13 0 0 0.004482 0 0 SP140 11262 broad.mit.edu 37 2 231174750 231174750 + Nonsense_Mutation SNP G G T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:231174750G>T ENST00000392045.3 + 23 2284 c.2170G>T c.(2170-2172)Gag>Tag p.E724* SP140_ENST00000343805.6_Nonsense_Mutation_p.E664*|SP140_ENST00000420434.3_Nonsense_Mutation_p.E697*|SP140_ENST00000486687.2_Nonsense_Mutation_p.E648*|SP140_ENST00000350136.5_Nonsense_Mutation_p.E593*|SP140_ENST00000417495.3_Nonsense_Mutation_p.E610* NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 724 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGTGGAAGCTGAGAGGTAAGT 0.552000 7 38 5.18039e-06 1.59015e-05 0.003080 1 0 DNAI2 64446 broad.mit.edu 37 17 72287268 72287268 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:72287268G>C ENST00000579490.1 + 5 1026 c.891G>C c.(889-891)caG>caC p.Q297H DNAI2_ENST00000311014.6_Missense_Mutation_p.Q240H|DNAI2_ENST00000446837.2_Missense_Mutation_p.Q240H|DNAI2_ENST00000307504.5_Missense_Mutation_p.Q97H|DNAI2_ENST00000582036.1_Missense_Mutation_p.Q240H Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 240 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 ACAATGGACAGATAGGTAAGG 0.438000 Kartagener syndrome 17 242 0 0 0.004007 0 0 CELF2 10659 broad.mit.edu 37 10 11356183 11356183 + Missense_Mutation SNP G G T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr10:11356183G>T ENST00000379261.4 + 10 1129 c.1037G>T c.(1036-1038)gGa>gTa p.G346V CELF2_ENST00000537122.1_Missense_Mutation_p.G235V|CELF2_ENST00000354897.3_Missense_Mutation_p.G322V|CELF2_ENST00000609692.1_Missense_Mutation_p.G322V|CELF2_ENST00000417956.2_Missense_Mutation_p.G322V|CELF2_ENST00000315874.4_Missense_Mutation_p.G322V|CELF2_ENST00000354440.2_Missense_Mutation_p.G322V|CELF2_ENST00000399850.3_Missense_Mutation_p.G322V|CELF2_ENST00000427450.1_Missense_Mutation_p.G322V|CELF2_ENST00000542579.1_Missense_Mutation_p.G353V|CELF2_ENST00000416382.2_Missense_Mutation_p.G346V|CELF2_ENST00000450189.1_Missense_Mutation_p.G353V|CELF2_ENST00000608830.1_Missense_Mutation_p.G322V NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 346 Ala-rich. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 GGACTGGCTGGAGCCACTGTT 0.502000 41 79 1.07121e-22 3.42722e-22 0.006999 1 0 ADCY2 108 broad.mit.edu 37 5 7784499 7784499 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:7784499G>A ENST00000338316.4 + 19 2495 c.2406G>A c.(2404-2406)ctG>ctA p.L802L ADCY2_ENST00000537121.1_Silent_p.L622L NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 802 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|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGAAAGACCTGAAGACCATGG 0.378000 15 168 0 0 0.006122 0 0 ENTHD2 146705 broad.mit.edu 37 17 79205452 79205452 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:79205452C>G ENST00000374769.2 - 10 966 c.489G>C c.(487-489)ttG>ttC p.L163F AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000300714.3_Missense_Mutation_p.L247F ENTH domain containing 2 TCACCAAGCTCAACTCCTGCT 0.662000 13 18 0 0 0.013537 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420386 55420386 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr12:55420386G>A ENST00000242994.3 + 2 541 c.163G>A c.(163-165)Gag>Aag p.E55K NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 55 Asp/Glu-rich (acidic). amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TGACAGTATTgaggaagaaga 0.483000 5 21 0 0 0.001168 0 0 SATB2 23314 broad.mit.edu 37 2 200137140 200137140 + Nonsense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:200137140G>A ENST00000443023.1 - 10 3284 c.1819C>T c.(1819-1821)Cag>Tag p.Q607* SATB2_ENST00000457245.1_Nonsense_Mutation_p.Q666*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.Q666*|SATB2_ENST00000428695.1_Nonsense_Mutation_p.Q548*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.Q666* Q9UPW6 SATB2_HUMAN SATB homeobox 2 666 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGGTACCGCTGGTTCTGGAAG 0.552000 13 60 0 0 0.013537 0 0 LRRC24 441381 broad.mit.edu 37 8 145749638 145749638 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:145749638C>T ENST00000529415.2 - 4 580 c.463G>A c.(463-465)Gaa>Aaa p.E155K LRRC14_ENST00000292524.1_3'UTR|LRRC14_ENST00000528528.1_Intron|LRRC24_ENST00000533758.1_Missense_Mutation_p.E152K Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 155 integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) ATGCTGTTTTCTTGCAGGTGA 0.577000 4 90 0 0 0.009096 0 0 DOCK2 1794 broad.mit.edu 37 5 169096311 169096311 + Silent SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr5:169096311C>G ENST00000256935.8 + 3 227 c.147C>G c.(145-147)ctC>ctG p.L49L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 49 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGGATACCTCATAAAGCACA 0.393000 16 115 0 0 0.007413 0 0 DNAH7 56171 broad.mit.edu 37 2 196892748 196892748 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr2:196892748G>A ENST00000312428.6 - 6 522 c.422C>T c.(421-423)tCa>tTa p.S141L DNAH7_ENST00000410072.1_Missense_Mutation_p.S141L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 141 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AGGGACAGCTGAGTCTAAGTC 0.378000 13 96 0 0 0.001855 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303825 151303825 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:151303825C>T ENST00000370323.4 - 4 584 c.268G>A c.(268-270)Gcc>Acc p.A90T MAGEA10_ENST00000244096.3_Missense_Mutation_p.A90T|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386 P43363 MAGAA_HUMAN melanoma antigen family A, 10 90 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) GAGGAGCAGGCTATCTGAGCA 0.547000 6 221 0 0 0.001168 0 0 STAC2 342667 broad.mit.edu 37 17 37369804 37369804 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:37369804C>T ENST00000333461.5 - 9 1318 c.949G>A c.(949-951)Gat>Aat p.D317N NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 317 SH3. intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 ATGATCCGATCTCCAGGCCTG 0.627000 6 52 0 0 0.001984 0 0 ZNF462 58499 broad.mit.edu 37 9 109689515 109689515 + Missense_Mutation SNP G G T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:109689515G>T ENST00000277225.5 + 3 3611 c.3322G>T c.(3322-3324)Gac>Tac p.D1108Y ZNF462_ENST00000457913.1_Missense_Mutation_p.D1108Y Q96JM2 ZN462_HUMAN zinc finger protein 462 1108 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCCGCCACCAGACCTCAGTAC 0.512000 4 44 0.00024832 0.000753498 0.009096 1 0 PKP3 11187 broad.mit.edu 37 11 403947 403947 + Silent SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:403947G>A ENST00000331563.2 + 11 2158 c.2082G>A c.(2080-2082)acG>acA p.T694T NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 694 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCACAGCCACGAAGGTGGTGA 0.672000 5 25 0 0 0.000602 0 0 GNA14 9630 broad.mit.edu 37 9 80038930 80038930 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr9:80038930G>C ENST00000341700.6 - 7 1546 c.1033C>G c.(1033-1035)Cta>Gta p.L345V NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 345 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 TTTAGCTGTAGAATTGTGTCT 0.403000 4 89 0 0 0.000602 0 0 SMG1 23049 broad.mit.edu 37 16 18839369 18839369 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:18839369G>A ENST00000446231.2 - 55 10137 c.9725C>T c.(9724-9726)tCt>tTt p.S3242F SMG1_ENST00000389467.3_Missense_Mutation_p.S3243F Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3242 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TGTTGCAATAGAAGTTTCAAT 0.428000 5 11 0 0 0.000602 0 0 SLC52A1 55065 broad.mit.edu 37 17 4937052 4937052 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr17:4937052C>G ENST00000512825.2 - 3 2143 c.732G>C c.(730-732)gaG>gaC p.E244D SLC52A1_ENST00000424747.1_Missense_Mutation_p.E244D|SLC52A1_ENST00000254853.5_Missense_Mutation_p.E244D Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 244 Poly-Glu. integral to plasma membrane receptor activity|riboflavin transporter activity CTTCCTCCTTCTCTTCCTCCT 0.612000 3 46 0 0 0.004672 0 0 HHIPL1 84439 broad.mit.edu 37 14 100134572 100134572 + Silent SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr14:100134572C>T ENST00000330710.5 + 7 1760 c.1662C>T c.(1660-1662)ttC>ttT p.F554F HHIPL1_ENST00000357223.2_Silent_p.F554F NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 554 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) AGCTGTACTTCATGTCGACAG 0.602000 6 72 0 0 0.001168 0 0 TRPS1 7227 broad.mit.edu 37 8 116599536 116599536 + Missense_Mutation SNP A A T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr8:116599536A>T ENST00000395715.3 - 5 2969 c.2392T>A c.(2392-2394)Tcc>Acc p.S798T TRPS1_ENST00000519076.1_Missense_Mutation_p.S539T|TRPS1_ENST00000519674.1_Missense_Mutation_p.S785T|TRPS1_ENST00000520276.1_Missense_Mutation_p.S789T|TRPS1_ENST00000220888.5_Missense_Mutation_p.S785T NM_001282902.1|NM_001282903.1|NM_014112.2 NP_001269831.1|NP_001269832.1|NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 785 Mediates interaction with GLI3. 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) TCATCACTGGAACTCTCGGTC 0.547000 Langer-Giedion syndrome 92 319 0 0 0.014410 0 0 PPT1 5538 broad.mit.edu 37 1 40562864 40562864 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:40562864G>A ENST00000433473.3 - 1 511 c.47C>T c.(46-48)cCa>cTa p.P16L PPT1_ENST00000449045.2_Missense_Mutation_p.P16L NM_000310.3 NP_000301.1 P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 16 brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1) 11 Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCAGGTCCATGGCAGGAGAGC 0.657000 20 102 0 0 0.008871 0 0 ZMYM4 9202 broad.mit.edu 37 1 35824558 35824558 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:35824558G>C ENST00000314607.6 + 3 198 c.118G>C c.(118-120)Gat>Cat p.D40H ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Missense_Mutation_p.D40H NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 40 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) AATGTCTGAAGATATAGACCA 0.358000 6 64 0 0 0.001168 0 0 RHOA 387 broad.mit.edu 37 3 49399983 49399983 + Missense_Mutation SNP C C G TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:49399983C>G ENST00000418115.1 - 4 738 c.354G>C c.(352-354)aaG>aaC p.K118N RHOA_ENST00000422781.1_Missense_Mutation_p.K118N|RHOA_ENST00000454011.2_Missense_Mutation_p.R78T NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 118 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) GAAGATCCTTCTTATTCCCAA 0.468000 13 117 0 0 0.013537 0 0 GLUD2 2747 broad.mit.edu 37 X 120183010 120183010 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:120183010C>T ENST00000328078.1 + 1 1549 c.1472C>T c.(1471-1473)gCa>gTa p.A491V NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 491 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) GTACCCACGGCAGAGTTCCAA 0.443000 12 81 0 0 0.013537 0 0 MYADM 91663 broad.mit.edu 37 19 54376871 54376871 + Missense_Mutation SNP C C T rs150547635 byFrequency TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:54376871C>T ENST00000391769.2 + 3 368 c.88C>T c.(88-90)Cgg>Tgg p.R30W MYADM_ENST00000391768.2_Missense_Mutation_p.R30W|MYADM_ENST00000391770.4_Missense_Mutation_p.R30W|MYADM_ENST00000336967.3_Missense_Mutation_p.R30W|MYADM_ENST00000391771.1_Missense_Mutation_p.R30W NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 30 integral to membrane p.R30W(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) GGGGTCCCCTCGGGCCCTGAC 0.662000 OREG0003650 type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 38 0 0 0.000602 0 0 LOC100287934 100287934 broad.mit.edu 37 1 745371 745371 + RNA DEL A A - rs146246821 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:745371delA ENST00000447500.1 - 0 95 TTTATTTCATAAGATAGCATT 0.299 2 4 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)gaadel p.E40del HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 7 97 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCTGCT rs58327065 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr1:154842199_154842200insGCTGCT ENST00000271915.4 - 1 556_557 c.241_242insAGCAGC c.(241-243)cca>cAGCAGCca p.80_81insQQ NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 6 12 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 5 7 --- --- --- --- PHOX2B 8929 broad.mit.edu 37 4 41747993 41748013 + In_Frame_Del DEL GCCGCCGCTGCCGCTGCCGCC GCCGCCGCTGCCGCTGCCGCC - rs17884724 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC ENST00000226382.2 - 3 1115_1135 c.756_776delGGCGGCAGCGGCAGCGGCGGC c.(754-777)gcggcggcagcggcagcggcggca>gca p.252_259AAAAAAAA>A NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 252 Poly-Ala. positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg 0.819 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 5 5 --- --- --- --- RAG1 5896 broad.mit.edu 37 11 36597187 36597187 + Frame_Shift_Del DEL G G - rs121918569 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr11:36597187delG ENST00000299440.5 + 2 2445 c.2333delG c.(2332-2334)cggfs p.R778fs NM_000448.2 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 778 R -> Q (in CHIDG; reduced recombination activity). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CTGCGGGATCGGGTGAAAGGG 0.493 Familial Hemophagocytic Lymphohistiocytosis 28 29 --- --- --- --- EDNRB 1910 broad.mit.edu 37 13 78492443 78492443 + Frame_Shift_Del DEL G G - TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr13:78492443delG ENST00000377211.4 - 2 688 c.536delC c.(535-537)ccgfs p.P179fs EDNRB_ENST00000446573.1_Frame_Shift_Del_p.P89fs|EDNRB_ENST00000334286.5_Frame_Shift_Del_p.P89fs NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 89 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TCCTTGGCACGGGGGAGGGGA 0.587 40 50 --- --- --- --- PRKCH 5583 broad.mit.edu 37 14 61924268 61924283 + Frame_Shift_Del DEL GAAGGTGCTGAAGAAG GAAGGTGCTGAAGAAG - TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr14:61924268_61924283delGAAGGTGCTGAAGAAG ENST00000332981.5 + 9 1534_1549 c.1149_1164delGAAGGTGCTGAAGAAG c.(1147-1164)gtgaaggtgctgaagaagfs p.VKVLKK383fs PRKCH_ENST00000555082.1_Frame_Shift_Del_p.VKVLKK222fs NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 383 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) TCTATGCTGTGAAGGTGCTGAAGAAGGACGTGATTC 0.509 32 86 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372914 74372914 + RNA DEL G G - rs67181940 TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr16:74372914delG ENST00000429810.2 - 0 1404 AACGTAGtttgtttttttttt 0.433 2 4 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15271897 15271897 + Frame_Shift_Del DEL G G - TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr19:15271897delG ENST00000263388.2 - 33 6617 c.6542delC c.(6541-6543)ccafs p.P2181fs NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 2181 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGAGGGGCCTGGAGGGGCAGG 0.726 2 4 --- --- --- --- ID1 3397 broad.mit.edu 37 20 30193289 30193290 + Frame_Shift_Ins INS - - T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr20:30193289_30193290insT ENST00000376105.3 + 1 198_199 c.99_100insT c.(100-102)tgtfs p.C34fs ID1_ENST00000376112.3_Frame_Shift_Ins_p.C34fs NM_181353.2 NP_851998.1 P41134 ID1_HUMAN inhibitor of DNA binding 1, dominant negative helix-loop-helix protein 34 angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway cytoplasm protein binding endometrium(2)|ovary(1)|pancreas(1) 4 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) AGGTGGTGCGCTGTCTGTCTGA 0.723 10 17 --- --- --- --- IGLC2 3538 broad.mit.edu 37 22 23243505 23243506 + RNA INS - - ACT TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr22:23243505_23243506insACT ENST00000390323.2 + 0 350_351 CACCACGGGAGACTAGAGCTGC 0.559 3 6 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898665 42898666 + RNA INS - - C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chr22:42898665_42898666insC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCCATATGGTGCCCCCCCCCCA 0.589 3 5 --- --- --- --- CACNA1F 778 broad.mit.edu 37 X 49084773 49084775 + In_Frame_Del DEL GAA GAA - TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx cfb0a2bf-afed-4fec-bbfb-4fdd20255879 7e646cce-f8f3-4181-860a-8788de1b6c06 g.chrX:49084773_49084775delGAA ENST00000376265.2 - 7 1013_1015 c.952_954delTTC c.(952-954)ttcdel p.F318del CACNA1F_ENST00000376251.1_In_Frame_Del_p.F253del|CACNA1F_ENST00000323022.5_In_Frame_Del_p.F318del NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 318 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.F318F(1) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) TCAGCATGGCGAAGAAGAAGTTG 0.596 9 26 --- --- --- ---