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 FLI1 2313 broad.mit.edu 37 11 128680730 128680730 + Silent SNP T T C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr11:128680730T>C ENST00000344954.6 + 9 1495 c.1107T>C c.(1105-1107)ccT>ccC p.P369P FLI1_ENST00000429175.2_Silent_p.P402P|FLI1_ENST00000281428.8_Silent_p.P336P|FLI1_ENST00000534087.1_Silent_p.P369P|FLI1_ENST00000525560.1_Silent_p.P209P Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 402 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) ACTTTGTCCCTCCCCATCCAT 0.567000 T EWSR1 Ewing sarcoma 3 64 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2787328 2787328 + Missense_Mutation SNP C C A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr3:2787328C>A ENST00000397461.1 + 5 689 c.305C>A c.(304-306)gCg>gAg p.A102E CNTN4_ENST00000427331.1_Missense_Mutation_p.A102E|CNTN4_ENST00000418658.1_Missense_Mutation_p.A102E NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 102 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CAGTGCACAGCGACAAACTCG 0.418000 3 128 0.115264 0.115264 1 1 0 ZNF135 7694 broad.mit.edu 37 19 58578503 58578503 + Silent SNP G G A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr19:58578503G>A ENST00000506786.1 + 5 1079 c.525G>A c.(523-525)caG>caA p.Q175Q ZNF135_ENST00000511556.1_Silent_p.Q229Q|ZNF135_ENST00000313434.5_Silent_p.Q217Q|ZNF135_ENST00000439855.2_Silent_p.Q217Q|ZNF135_ENST00000401053.4_Silent_p.Q241Q|ZNF135_ENST00000359978.6_Silent_p.Q229Q B4DHH9 B4DHH9_HUMAN zinc finger protein 135 229 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) ACAAATGTCAGGAATGCGGAA 0.473000 3 119 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12626642 12626642 + Silent SNP A A G TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr3:12626642A>G ENST00000251849.4 - 15 2086 c.1647T>C c.(1645-1647)tcT>tcC p.S549S RAF1_ENST00000542177.1_Silent_p.S468S|RAF1_ENST00000534997.1_Silent_p.S334S|RAF1_ENST00000442415.2_Silent_p.S569S NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 549 Protein kinase. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) TGTTGATGTGAGAATAAGGAA 0.522000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 3 87 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C rs71828885 TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr4:79792085G>C ENST00000335016.5 + 11 1546 c.1380G>C c.(1378-1380)caG>caC p.Q460H BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity p.Q460H(3) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ATCCTCACcagcagcagcagc 0.577000 4 67 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40762599 40762599 + Silent SNP A A G TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr17:40762599A>G ENST00000251413.3 + 3 383 c.321A>G c.(319-321)ggA>ggG p.G107G FAM134C_ENST00000585894.1_5'UTR NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 107 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) GGGCCAGCGGATTCTCCCAGG 0.572000 8 75 0 0 1 0 0 AKR1C3 8644 broad.mit.edu 37 10 5141540 5141540 + Missense_Mutation SNP G G C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr10:5141540G>C ENST00000380554.3 + 5 1121 c.469G>C c.(469-471)Gca>Cca p.A157P AKR1C3_ENST00000439082.2_Missense_Mutation_p.A38P|AKR1C3_ENST00000605149.1_Missense_Mutation_p.A134P NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 157 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) GTGTAAGGATGCAGGATTGGC 0.498000 3 117 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515282 102515282 + RNA SNP G G A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr15:102515282G>A ENST00000557932.1 + 0 1128 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GAGTCCATCCGCCAAGCTGGG 0.652000 3 28 0 0 1 0 0 RRN3P1 0 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 3 42 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41530362 41530362 + Missense_Mutation SNP G G A rs146416859 byFrequency TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr8:41530362G>A ENST00000396942.1 - 38 4689 c.4606C>T c.(4606-4608)Cgt>Tgt p.R1536C ANK1_ENST00000347528.4_Missense_Mutation_p.R1536C|ANK1_ENST00000265709.8_Missense_Mutation_p.R1577C|ANK1_ENST00000396945.1_Missense_Mutation_p.R1536C|ANK1_ENST00000379758.2_Missense_Mutation_p.R1536C|ANK1_ENST00000352337.4_Missense_Mutation_p.R1536C|ANK1_ENST00000289734.7_Missense_Mutation_p.R1536C P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1536 55 kDa regulatory domain. 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) TGGTCTGCACGTAGCGGAGAG 0.607000 11 19 0 0 1 0 0 FAM134C 162427 broad.mit.edu 37 17 40762598 40762598 + Translation_Start_Site SNP G G C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr17:40762598G>C ENST00000585894.1 - 0 43 TUBG1_ENST00000251413.3_Missense_Mutation_p.G107A Q86VR2 F134C_HUMAN family with sequence similarity 134, member C integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) TGGGCCAGCGGATTCTCCCAG 0.572000 8 78 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304884 102304884 + RNA SNP G G A rs143982735 by1000genomes TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr15:102304884G>A ENST00000561463.1 + 0 12930 GCGTGGGAACGAGAAGACACT 0.562000 4 21 0 0 1 0 0 FAM71F1 84691 broad.mit.edu 37 7 128359074 128359074 + Silent SNP T T A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr7:128359074T>A ENST00000315184.5 + 3 677 c.624T>A c.(622-624)ccT>ccA p.P208P FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Silent_p.P109P NM_032599.2 NP_115988.1 Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 208 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCAAAGACCCTAGGATTCTTG 0.532000 69 85 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64394725 64394725 + Missense_Mutation SNP G G A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr6:64394725G>A ENST00000262043.3 + 4 1442 c.1102G>A c.(1102-1104)Gat>Aat p.D368N PHF3_ENST00000393387.1_Missense_Mutation_p.D368N|PHF3_ENST00000509330.1_Missense_Mutation_p.D368N Q92576 PHF3_HUMAN PHD finger protein 3 368 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAGTTGTGTAGATGAAGTGAC 0.373000 32 67 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55926983 55926983 + Missense_Mutation SNP C C A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr11:55926983C>A ENST00000313447.1 - 1 810 c.811G>T c.(811-813)Gat>Tat p.D271Y NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GCCATTTTATCAGTATCAAAG 0.398000 3 72 0.00909568 0.009601 1 1 0 KRAS 3845 broad.mit.edu 37 12 25380277 25380277 + Missense_Mutation SNP G G T rs121913238 TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr12:25380277G>T ENST00000311936.3 - 3 372 c.181C>A c.(181-183)Caa>Aaa p.Q61K KRAS_ENST00000256078.4_Missense_Mutation_p.Q61K|KRAS_ENST00000557334.1_Intron NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61K(32)|p.Q61E(10) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TACTCCTCTTGACCTGCTGTG 0.413000 Q61K(CALU6_LUNG) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 24 47 8.58068e-18 9.88079e-18 1 1 0 CNNM4 26504 broad.mit.edu 37 2 97464932 97464932 + Missense_Mutation SNP A A G TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr2:97464932A>G ENST00000377075.2 + 4 1918 c.1820A>G c.(1819-1821)aAg>aGg p.K607R CNNM4_ENST00000540067.1_Missense_Mutation_p.K94R|CNNM4_ENST00000496186.1_3'UTR NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 607 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 ACCCGAAATAAGCCGGCCGAC 0.582000 3 105 0 0 1 0 0 IREB2 3658 broad.mit.edu 37 15 78755395 78755395 + Missense_Mutation SNP T T C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr15:78755395T>C ENST00000258886.8 + 3 387 c.238T>C c.(238-240)Ttt>Ctt p.F80L IREB2_ENST00000560440.1_Missense_Mutation_p.F80L NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 80 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TGAAGTGCCCTTTTTCCCTGC 0.358000 4 227 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304883 102304883 + RNA SNP C C G TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr15:102304883C>G ENST00000561463.1 + 0 12929 CGCGTGGGAACGAGAAGACAC 0.562000 3 21 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 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 ATTTACGTGGCCAGCAAAAGG 0.423000 4 130 0 0 1 0 0 PLK4 0 broad.mit.edu 37 4 128806990 128806990 + Missense_Mutation SNP T T G TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr4:128806990T>G ENST00000270861.5 + 5 739 c.465T>G c.(463-465)ttT>ttG p.F155L PLK4_ENST00000515069.1_Missense_Mutation_p.F155L|PLK4_ENST00000507249.1_Missense_Mutation_p.F155L|PLK4_ENST00000513090.1_Missense_Mutation_p.F123L|PLK4_ENST00000514379.1_Missense_Mutation_p.F114L NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 155 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 TTGCTGATTTTGGGCTGGCAA 0.418000 3 170 0 0 1 0 0 SERPINE3 647174 broad.mit.edu 37 13 51915403 51915403 + Missense_Mutation SNP T T C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr13:51915403T>C ENST00000524365.1 + 4 801 c.176T>C c.(175-177)cTc>cCc p.L59P SERPINE3_ENST00000521255.1_Missense_Mutation_p.L59P|SERPINE3_ENST00000400389.4_Missense_Mutation_p.L59P A8MV23 SERP3_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 59 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2) 2 GGTGTGTCCCTCCCCCTGGAG 0.557000 3 51 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217332707 217332707 + Missense_Mutation SNP T T C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr2:217332707T>C ENST00000357276.4 + 14 2512 c.2182T>C c.(2182-2184)Ttt>Ctt p.F728L SMARCAL1_ENST00000358207.5_Missense_Mutation_p.F728L NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 728 Helicase C-terminal. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) AAGAGAGAAGTTTTTAGTATT 0.393000 Schimke Immuno-Osseous Dysplasia 4 106 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003992 34003992 + Missense_Mutation SNP C C T TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr6:34003992C>T ENST00000374181.3 - 8 2064 c.1895G>A c.(1894-1896)gGc>gAc p.G632D GRM4_ENST00000455714.2_Missense_Mutation_p.G492D|GRM4_ENST00000374177.3_Missense_Mutation_p.G516D|GRM4_ENST00000544773.1_Missense_Mutation_p.G463D|GRM4_ENST00000535756.1_Missense_Mutation_p.G499D|GRM4_ENST00000538487.1_Missense_Mutation_p.G632D|GRM4_ENST00000545715.1_Missense_Mutation_p.G324D NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 632 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CAGGAAGATGCCTGCCAGCAG 0.597000 3 44 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75061718 75061718 + Missense_Mutation SNP C C G TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr2:75061718C>G ENST00000290573.2 + 1 611 c.11C>G c.(10-12)tCg>tGg p.S4W NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 4 Hydrophobic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity p.S4L(1)|p.S4W(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 ATGATTGCCTCGCATCTGCTT 0.662000 3 106 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98741586 98741586 + Missense_Mutation SNP A A G TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr10:98741586A>G ENST00000286067.2 + 1 546 c.439A>G c.(439-441)Agg>Ggg p.R147G NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 147 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAAAAGTAAAAGGGCATCAGG 0.423000 3 104 0 0 1 0 0 MRPL10 124995 broad.mit.edu 37 17 45904011 45904011 + Missense_Mutation SNP G G A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr17:45904011G>A ENST00000290208.7 - 4 1006 c.554C>T c.(553-555)cCg>cTg p.P185L MRPL10_ENST00000351111.2_Missense_Mutation_p.P175L|MRPL10_ENST00000414011.1_Missense_Mutation_p.P185L Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 175 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 ACCTAGCAGCGGCAGGAATGG 0.557000 7 119 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35500211 35500211 + Missense_Mutation SNP G G A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr19:35500211G>A ENST00000599564.1 + 3 529 c.458G>A c.(457-459)cGg>cAg p.R153Q GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R66Q|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R66Q Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 66 GRAM. integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTAGGCAGCCGGAACTTCATC 0.637000 3 69 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2613074 2613074 + Silent SNP C C A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr7:2613074C>A ENST00000402050.2 + 6 601 c.417C>A c.(415-417)gtC>gtA p.V139V IQCE_ENST00000325979.7_Silent_p.V74V|IQCE_ENST00000404984.1_Silent_p.V88V|IQCE_ENST00000438376.2_Silent_p.V123V NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 139 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GGACTCCTGTCTACAGAGAAA 0.348000 3 53 0.00024832 0.000269605 1 1 0 PSIP1 11168 broad.mit.edu 37 9 15474206 15474206 + Missense_Mutation SNP T T C TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr9:15474206T>C ENST00000380733.4 - 9 1002 c.659A>G c.(658-660)aAg>aGg p.K220R PSIP1_ENST00000380716.4_Missense_Mutation_p.K220R|PSIP1_ENST00000380715.1_Missense_Mutation_p.K220R|PSIP1_ENST00000380738.4_Missense_Mutation_p.K220R|PSIP1_ENST00000397519.2_Missense_Mutation_p.K220R O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 220 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) CTCTTGCCCCTTTTTCTTACT 0.358000 4 302 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79595529 79595529 + Missense_Mutation SNP C C A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr10:79595529C>A ENST00000372391.2 - 8 1594 c.1589G>T c.(1588-1590)cGa>cTa p.R530L DLG5_ENST00000372388.2_Missense_Mutation_p.R530L NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 530 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AATCTTGTCTCGCTCCTGGAA 0.622000 19 22 2.37509e-13 2.65451e-13 1 1 0 KRAS 3845 broad.mit.edu 37 12 25380278 25380278 + Silent SNP A A T TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr12:25380278A>T ENST00000311936.3 - 3 371 c.180T>A c.(178-180)ggT>ggA p.G60G KRAS_ENST00000256078.4_Silent_p.G60G|KRAS_ENST00000557334.1_Intron NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 60 G -> R (in CFC syndrome; characterized by a defective GTPase-activating protein sensitivity and a strongly reduced interaction with effectors).|G -> S (in NS3). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61K(6)|p.G60G(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) ACTCCTCTTGACCTGCTGTGT 0.413000 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 25 46 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39633889 39633889 + Silent SNP G G A TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr17:39633889G>A ENST00000246639.2 - 6 1143 c.1011C>T c.(1009-1011)gcC>gcT p.A337A KRT35_ENST00000393989.1_Silent_p.A367A Q92764 KRT35_HUMAN keratin 35 367 Coil 2.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity p.A367A(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CCCGGATCTCGGCCAGCTGGG 0.647000 5 98 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 7 261 --- --- --- --- STK39 27347 broad.mit.edu 37 2 169103865 169103866 + In_Frame_Ins INS - - GCC TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr2:169103865_169103866insGCC ENST00000355999.4 - 1 785_786 c.80_81insGGC c.(79-81)gcc>gGGCcc p.27_27A>GP NM_013233.2 NP_037365.2 Q9UEW8 STK39_HUMAN serine threonine kinase 39 27 Ala/Pro-rich. response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 cggccgccggggccgccgccgc 0.817 3 5 --- --- --- --- NEK11 79858 broad.mit.edu 37 3 130881254 130881254 + Frame_Shift_Del DEL A A - TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr3:130881254delA ENST00000383366.4 + 11 1258 c.965delA c.(964-966)cafs p.Q322fs NEK11_ENST00000511262.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000507910.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000429253.2_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000508196.1_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510769.1_Frame_Shift_Del_p.Q217fs|NEK11_ENST00000412440.2_Frame_Shift_Del_p.Q174fs|NEK11_ENST00000356918.4_Frame_Shift_Del_p.Q322fs|NEK11_ENST00000510688.1_Frame_Shift_Del_p.Q322fs NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 322 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 ATTTATAGGCAAAAAAGGATC 0.423 8 488 --- --- --- --- EEF1A1 1915 broad.mit.edu 37 6 74228155 74228158 + Frame_Shift_Del DEL GACA GACA - TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr6:74228155_74228158delGACA ENST00000316292.9 - 5 1939_1942 c.948_951delTGTC c.(946-951)tcfs p.SV316fs EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Frame_Shift_Del_p.SV316fs|EEF1A1_ENST00000309268.6_Frame_Shift_Del_p.SV316fs NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 316 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GAACATCCTTGACAGACACATTCT 0.446 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 35 43 --- --- --- --- SACS 26278 broad.mit.edu 37 13 23913335 23913340 + In_Frame_Del DEL AAATCC AAATCC - TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr13:23913335_23913340delAAATCC ENST00000382298.3 - 10 5263_5268 c.4675_4680delGGATTT c.(4675-4680)del p.GF1559del SACS_ENST00000402364.1_In_Frame_Del_p.GF809del|SACS_ENST00000382292.3_In_Frame_Del_p.GF1559del NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1559 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ACACAGAATTAAATCCAAGACCAAAT 0.330 10 140 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25525716 25525716 + RNA DEL A A - TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr13:25525716delA ENST00000429698.1 - 0 282 TGGAAGAAACAAAAAAAAGAA 0.383 2 4 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58066608 58066609 + RNA DEL TT TT - TCGA-H2-A3RH-01A-11D-A21Z-08 TCGA-H2-A3RH-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx e76ddf7f-bf62-4428-8f38-301ea24157f6 10dd44e4-375e-47c0-b545-60c6dc0d1920 g.chr17:58066608_58066609delTT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTTT 0.312 3 3 --- --- --- ---