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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ALDOC 230 broad.mit.edu 37 17 26900872 26900872 + Nonsense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:26900872G>A uc002hbp.3 - 7 1025 c.880C>T c.(880-882)Cga>Tga p.R294* PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank NM_005165 NP_005156 P09972 ALDOC_HUMAN Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA. 294 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) GCCCAGGGTCGGGGAAGGGGG 0.602000 62 10 0 0 0.001368 0 0 EIF2C4 192670 broad.mit.edu 37 1 36307284 36307284 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:36307284G>A uc001bzj.2 + 14 2298 c.2108G>A c.(2107-2109)gGa>gAa p.G703E NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA. 703 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TACCGGCCAGGAATAACTTAT 0.358000 62 10 0 0 0.000673 0 0 ZFPM2 23414 broad.mit.edu 37 8 106573624 106573624 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:106573624G>A uc003ymd.3 + 3 358 c.335G>A c.(334-336)cGa>cAa p.R112Q NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 112 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.R112Q(2) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GATGGGGAACGAAAAATTCAG 0.438000 22 5 0 0 0.000602 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159776541 159776541 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:159776541C>T uc003lyd.3 - 2 631 c.627G>A c.(625-627)cgG>cgA p.R209R NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA. 164 C1q. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGATGGGCAGCCGCTCCCGTG 0.592000 60 15 0 0 0.002450 0 0 CTNNA2 1496 broad.mit.edu 37 2 80646628 80646628 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:80646628C>T uc010ysh.2 + 7 1197 c.1192C>T c.(1192-1194)Cct>Tct p.P398S CTNNA2_uc010yse.2_Missense_Mutation_p.P398S|CTNNA2_uc010ysf.2_Missense_Mutation_p.P398S|CTNNA2_uc010ysg.2_Missense_Mutation_p.P398S|CTNNA2_uc010ysi.2_Missense_Mutation_p.P30S NM_004389 NP_004380 P26232 CTNA2_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA. 398 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AACCAATGTTCCTTTGCTAGT 0.393000 40 28 0 0 0.005443 0 0 GPR98 84059 broad.mit.edu 37 5 89923430 89923430 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:89923430C>T uc003kju.3 + 6 1171 c.1075C>T c.(1075-1077)Cac>Tac p.H359Y GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 359 Calx-beta 3. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.H359Y(2)|p.H359D(2) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGAATCGTTTCACATTATGTT 0.368000 125 12 0 0 0.001855 0 0 TSEN2 80746 broad.mit.edu 37 3 12531302 12531302 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:12531302G>A uc003bxc.3 + 1 390 c.3G>A c.(1-3)atG>atA p.M1I TSEN2_uc003bwz.3_Missense_Mutation_p.M1I|TSEN2_uc003bxa.3_Missense_Mutation_p.M1I|TSEN2_uc011auq.1_Missense_Mutation_p.M1I|TSEN2_uc003bxb.3_Missense_Mutation_p.M1I|TSEN2_uc011aur.1_5'UTR NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA. 1 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 TCTGAAAAATGGCAGAAGCAG 0.408000 164 45 0 0 0.002852 0 0 BRAF 673 broad.mit.edu 37 7 140453138 140453138 + Silent SNP T G G rs121913374 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:140453138T>G uc003vwc.4 - 14 1858 c.1797A>C c.(1795-1797)acA>acC p.T599T NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 599 Protein kinase. T -> R (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.T599_V600insT(12)|p.A598_T599insV(7)|p.T599_V600insTT(6)|p.T599I(5)|p.T599_R603>I(4)|p.A598V(4)|p.T599_V600>IAL(4)|p.T599T(4)|p.L597_A598insT(2)|p.A598T(1)|p.D594_T599del(1)|p.V600R(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) GAGATTTCACTGTAGCTAGAC 0.363000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 43 19 0 0 0.001216 0 0 SSTR1 6751 broad.mit.edu 37 14 38679446 38679446 + Nonsense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr14:38679446G>A uc021rsi.1 + 0 852 c.852G>A c.(850-852)tgG>tgA p.W284* SSTR1_uc001wul.1_Nonsense_Mutation_p.W284* NM_001049 NP_001040 P30872 SSR1_HUMAN Homo sapiens somatostatin receptor 1 (SSTR1), mRNA. 284 G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TCATCTGCTGGATGCCTTTCT 0.592000 26 4 0 0 0.000602 0 0 ABCC8 6833 broad.mit.edu 37 11 17427103 17427103 + Nonsense_Mutation SNP C A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:17427103C>A uc001mnc.3 - 26 3463 c.3337G>T c.(3337-3339)Gag>Tag p.E1113* NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1113 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGCGTGGTCTCAAAAAACCTA 0.448000 136 28 7.01153e-11 3.59742e-10 0.001271 1 0 TUBGCP5 114791 broad.mit.edu 37 15 22840322 22840323 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:22840322_22840323CC>TT uc001yuq.2 + 3 518_519 c.388_389CC>TT c.(388-390)cca>TTa p.P130L TUBGCP5_uc001yur.4_Missense_Mutation_p.P130L NM_001102610 NP_001096080 Q96RT8 GCP5_HUMAN Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA. 130 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TGTGGAGACACCAAGAAATAAA 0.332000 48 5 0 0 0.004672 0 0 ALKBH4 54784 broad.mit.edu 37 7 102097862 102097862 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:102097862G>A uc003uzl.3 - 2 926 c.888C>T c.(886-888)tcC>tcT p.S296S ALKBH4_uc003uzm.3_Silent_p.S223S NM_017621 NP_060091 Q9NXW9 ALKB4_HUMAN Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA. 296 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(5)|skin(2) 8 TTCCCTGGAAGGAGAGGGCGA 0.632000 37 6 0 0 0.001984 0 0 CNTN6 27255 broad.mit.edu 37 3 1445017 1445017 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:1445017G>A uc003boz.3 + 22 3269 c.3002G>A c.(3001-3003)gGa>gAa p.G1001E CNTN6_uc011asj.2_Missense_Mutation_p.G929E|CNTN6_uc003bpa.3_Missense_Mutation_p.G1001E NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 1001 Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGTTCCAGAGGAATTCAATTC 0.299000 47 4 0 0 0.000602 0 0 PRDM16 63976 broad.mit.edu 37 1 3328920 3328920 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:3328920C>T uc001akf.3 + 8 2241 c.2159C>T c.(2158-2160)cCc>cTc p.P720L PRDM16_uc001ake.3_Missense_Mutation_p.P720L|PRDM16_uc009vlh.3_Missense_Mutation_p.P421L|PRDM16_uc001akc.3_Missense_Mutation_p.P720L NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 720 Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GGCTCGCTCCCCTACCACTCG 0.637000 T EVI1 """MDS, AML""" 26 5 0 0 0.000602 0 0 CDC25A 993 broad.mit.edu 37 3 48219437 48219437 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:48219437G>A uc003csh.1 - 6 955 c.591C>T c.(589-591)ttC>ttT p.F197F CDC25A_uc003csi.1_Silent_p.F157F|CDC25A_uc021wxk.1_Silent_p.F156F NM_001789 NP_001780 P30304 MPIP1_HUMAN Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA. 197 DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) AAAGAGGAATGAAATTCCCTG 0.428000 78 22 0 0 0.003954 0 0 GLOD4 51031 broad.mit.edu 37 17 673150 673150 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:673150G>A uc002frv.3 - 8 911 c.835C>T c.(835-837)Ctt>Ttt p.L279F GLOD4_uc002frt.3_Missense_Mutation_p.L208F|GLOD4_uc002fru.3_Missense_Mutation_p.L264F|GLOD4_uc010vqc.2_Missense_Mutation_p.L255F NM_016080 NP_057164 Q9HC38 GLOD4_HUMAN Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA. 279 mitochondrion endometrium(1)|large_intestine(1)|prostate(1) 3 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) ATCTTAGAAAGTTCTCGAAAT 0.443000 25 5 0 0 0.001984 0 0 UBR4 23352 broad.mit.edu 37 1 19441953 19441954 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:19441953_19441954GG>AA uc001bbi.3 - 73 11005_11006 c.11001_11002CC>TT c.(10999-11004)gtccct>gtTTct p.P3668S UBR4_uc001bbj.1_Missense_Mutation_p.P83S NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3668 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGGTTGGCAGGGACCGAGGCAC 0.540000 37 6 0 0 0.004672 0 0 GNB3 2784 broad.mit.edu 37 12 6953123 6953123 + Missense_Mutation SNP C G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:6953123C>G uc001qrd.3 + 8 1085 c.680C>G c.(679-681)tCg>tGg p.S227W GNB3_uc001qrc.3_Missense_Mutation_p.S183W|GNB3_uc009zfe.3_Missense_Mutation_p.S226W NM_002075 NP_002066 P16520 GBB3_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA. 227 G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 GGCCACGAGTCGGACATCAAC 0.577000 24 5 0 0 0.000602 0 0 DNAH10 196385 broad.mit.edu 37 12 124341693 124341693 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:124341693C>T uc001uft.4 + 35 6200 c.6175C>T c.(6175-6177)Ctg>Ttg p.L2059L NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 2059 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GATTTCGGATCTGTTTCCTGG 0.542000 37 7 0 0 0.001984 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38194888 38194889 + Missense_Mutation DNP GG AA AA rs74585221 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:38194888_38194889GG>AA uc003xli.3 - 3 1362_1363 c.844_845CC>TT c.(844-846)cct>TTt p.P282F WHSC1L1_uc011lbm.2_Missense_Mutation_p.P282F|WHSC1L1_uc010lwe.3_Missense_Mutation_p.P282F|WHSC1L1_uc003xlj.3_Missense_Mutation_p.P282F NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 282 PWWP 1. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) AGGCCACCAAGGATAGGTTCCC 0.431000 T NUP98 AML 35 8 0 0 0.004672 0 0 WDR67 93594 broad.mit.edu 37 8 124140586 124140586 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:124140586G>A uc003ypp.2 + 13 2040 c.1950G>A c.(1948-1950)atG>atA p.M650I WDR67_uc011lig.2_Missense_Mutation_p.M650I|WDR67_uc011lih.2_Missense_Mutation_p.M540I|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Intron|WDR67_uc003ypu.2_Missense_Mutation_p.M107I NM_145647 NP_663622 Q96DN5 WDR67_HUMAN Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA. 650 centrosome Rab GTPase activator activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) ATCATCTCATGGAGACCACGC 0.348000 52 18 0 0 0.001216 0 0 DFNB59 494513 broad.mit.edu 37 2 179323268 179323268 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:179323268G>A uc002umi.4 + 4 937 c.581G>A c.(580-582)gGa>gAa p.G194E MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.G194E NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA. 194 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AATCCCAAGGGAAGGGACAAA 0.353000 40 18 0 0 0.004990 0 0 ECE2 9718 broad.mit.edu 37 3 183995065 183995065 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:183995065G>A uc003fni.4 + 3 681 c.643G>A c.(643-645)Gag>Aag p.E215K ECE2_uc011brg.1_Missense_Mutation_p.E143K|ECE2_uc011brh.1_Missense_Mutation_p.E68K|ECE2_uc003fnl.4_Missense_Mutation_p.E143K|ECE2_uc003fnm.4_Missense_Mutation_p.E97K|ECE2_uc003fnk.4_Missense_Mutation_p.E68K|ECE2_uc011bri.1_Missense_Mutation_p.E130K|ECE2_uc010hxv.3_5'UTR NM_014693 NP_055508 O60344 ECE2_HUMAN Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA. 215 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing Golgi membrane|cytoplasmic vesicle membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGCCTTACAGAGGCCTGCAT 0.582000 34 8 0 0 0.000673 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766741 77766741 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:77766741C>T uc003yau.2 + 9 7971 c.7584C>T c.(7582-7584)ttC>ttT p.F2528F ZFHX4_uc003yaw.1_Silent_p.F2483F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2483 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N2527H(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTCTCCGTTCTTGGAAAGGC 0.517000 HNSCC(33;0.089) 84 12 0 0 0.000978 0 0 ENTPD4 9583 broad.mit.edu 37 8 23294537 23294537 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:23294537G>A uc003xdl.3 - 9 1556 c.1284C>T c.(1282-1284)ttC>ttT p.F428F ENTPD4_uc011kzu.1_Silent_p.F420F|ENTPD4_uc003xdm.3_Silent_p.F420F|ENTPD4_uc011kzv.1_Silent_p.F428F NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA. 428 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) AGAAGCCATAGAATTCACTGT 0.463000 69 20 0 0 0.001882 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 42 19 0 0 0.001523 0 0 BAG6 7917 broad.mit.edu 37 6 31609612 31609612 + Nonsense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:31609612G>A uc003nvg.4 - 15 2670 c.2356C>T c.(2356-2358)Cga>Tga p.R786* BAG6_uc003nvf.4_Nonsense_Mutation_p.R780*|BAG6_uc003nvi.4_Nonsense_Mutation_p.R780*|BAG6_uc003nvh.4_Nonsense_Mutation_p.R780*|BAG6_uc011dnw.2_Nonsense_Mutation_p.R780*|BAG6_uc011dnx.2_Nonsense_Mutation_p.R654* NM_004639 NP_004630 P46379 BAG6_HUMAN Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA. 786 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 AAGAAGGATCGCAGCTGGGGC 0.562000 233 20 0 0 0.001216 0 0 DCDC5 100506627 broad.mit.edu 37 11 30926522 30926522 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:30926522C>T uc009yjk.1 - 18 2707 c.2638G>A c.(2638-2640)Gga>Aga p.G880R DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.G539R|DCDC5_uc009yjj.2_Non-coding_Transcript NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 511 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 GGGAATGTTCCAGCCACAATT 0.428000 36 13 0 0 0.001855 0 0 FTSJ3 117246 broad.mit.edu 37 17 61901534 61901534 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:61901534G>A uc002jbz.3 - 10 1142 c.1064C>T c.(1063-1065)cCc>cTc p.P355L FTSJ3_uc002jca.3_Missense_Mutation_p.P355L NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA. 355 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding p.P355S(1)|p.P355P(1) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 ctcctTAGAGGGCTGCTTTGT 0.527000 81 19 0 0 0.001882 0 0 CKM 1158 broad.mit.edu 37 19 45815063 45815063 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:45815063G>A uc002pbd.3 - 4 770 c.597C>T c.(595-597)tcC>tcT p.S199S NM_001824 NP_001815 P06732 KCRM_HUMAN Homo sapiens creatine kinase, muscle (CKM), mRNA. 199 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GCAGCAGCGGGGACACGGGCT 0.657000 13 6 0 0 0.001984 0 0 CYP4F12 66002 broad.mit.edu 37 19 15806987 15806987 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:15806987C>T uc002nbl.3 + 10 1385 c.1266C>T c.(1264-1266)atC>atT p.I422I NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCTGCCTCATCGATATTATAG 0.572000 33 8 0 0 0.000443 0 0 HECTD2 143279 broad.mit.edu 37 10 93220272 93220273 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr10:93220272_93220273CC>TT uc010qnm.1 + 2 457_458 c.357_358CC>TT c.(355-360)gtcctt>gtTTtt p.L120F LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khk.2_Missense_Mutation_p.L120F|HECTD2_uc001khl.2_Missense_Mutation_p.L120F|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_5'Flank NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA. 120 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 AGGCCCCAGTCCTTCCAGAACC 0.406000 50 16 0 0 0.004672 0 0 TBX19 9095 broad.mit.edu 37 1 168282099 168282099 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:168282099G>A uc001gfl.3 + 7 1257 c.1206G>A c.(1204-1206)tcG>tcA p.S402S TBX19_uc001gfj.4_Silent_p.S270S|TBX19_uc001gfm.3_Silent_p.S105S NM_005149 NP_005140 O60806 TBX19_HUMAN Homo sapiens T-box 19 (TBX19), mRNA. 402 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CACCCACTTCGGCTGGTGTGG 0.652000 26 10 0 0 0.001368 0 0 PHEX 5251 broad.mit.edu 37 X 22117214 22117214 + Missense_Mutation SNP C G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:22117214C>G uc004dah.3 + 8 1227 c.1024C>G c.(1024-1026)Cgc>Ggc p.R342G PHEX_uc011mjr.2_Missense_Mutation_p.R342G|PHEX_uc011mjs.2_Missense_Mutation_p.R245G NM_000444 NP_000435 P78562 PHEX_HUMAN Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA. 342 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding p.R342C(2)|p.R342H(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 TGTGGTGGTCCGCGTCCCGCA 0.453000 40 8 0 0 0.004482 0 0 C2CD4A 145741 broad.mit.edu 37 15 62359840 62359841 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:62359840_62359841GG>AA uc002ahf.4 + 1 169_170 c.28_29GG>AA c.(28-30)ggt>AAt p.G10N C2CD4A_uc021snl.1_Missense_Mutation_p.G10N NM_207322 NP_997205 Q8NCU7 C2C4A_HUMAN Homo sapiens C2 calcium-dependent domain containing 4A (C2CD4A), mRNA. 10 nucleus ACTCCGCTTGGGTCCTGAGTGC 0.653000 10 4 0 0 0.004672 0 0 SCAP 22937 broad.mit.edu 37 3 47470067 47470067 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:47470067G>A uc003crh.1 - 3 601 c.346C>T c.(346-348)Cgt>Tgt p.R116C SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron NM_012235 NP_036367 Q12770 SCAP_HUMAN Homo sapiens SREBF chaperone (SCAP), mRNA. 116 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) AAAGGTGAACGAAATACATCT 0.557000 57 19 0 0 0.006122 0 0 HMOX1 3162 broad.mit.edu 37 22 35789528 35789528 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr22:35789528C>T uc003ant.2 + 4 911 c.804C>T c.(802-804)ctC>ctT p.L268L NM_002133 NP_002124 P09601 HMOX1_HUMAN Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA. 268 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of chemokine biosynthetic process|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 NADH(DB00157) CTCCGCTTCTCCGATGGGTCC 0.562000 72 14 0 0 0.001855 0 0 OPRM1 4988 broad.mit.edu 37 6 154360946 154360946 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:154360946C>T uc011efe.2 + 2 1069 c.546C>T c.(544-546)ttC>ttT p.F182F OPRM1_uc011efb.2_Silent_p.F137F|OPRM1_uc011efd.2_Intron|OPRM1_uc011efc.1_Intron|OPRM1_uc003qpn.2_Silent_p.F89F|OPRM1_uc003qpo.1_Silent_p.F89F|OPRM1_uc011eff.1_Silent_p.F89F|OPRM1_uc011efg.1_Silent_p.F89F|OPRM1_uc011efi.2_Silent_p.F89F|OPRM1_uc011efh.1_Silent_p.F89F|OPRM1_uc003qpq.1_Silent_p.F89F|OPRM1_uc003qpr.2_Silent_p.F89F|OPRM1_uc003qpt.1_Silent_p.F89F|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript NM_001145279 NP_001138751 P35372 OPRM_HUMAN Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA. 89 behavior|negative regulation of cell proliferation|sensory perception Golgi apparatus|endoplasmic reticulum|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) TCGGAAACTTCCTGGTCATGT 0.587000 25 5 0 0 0.003080 0 0 MUC5B 727897 broad.mit.edu 37 11 1254364 1254364 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:1254364G>A uc001lta.3 + 17 2246 c.2187G>A c.(2185-2187)gtG>gtA p.V729V MUC5B_uc009yct.2_Silent_p.V729V NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 729 TIL 2. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TCGTGCCTGTGGACGGCTGCA 0.697000 12 4 0 0 0.000248 0 0 NPNT 255743 broad.mit.edu 37 4 106859511 106859511 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr4:106859511G>A uc011cfd.2 + 5 742 c.529G>A c.(529-531)Gga>Aga p.G177R NPNT_uc011cfc.2_Missense_Mutation_p.G164R|NPNT_uc011cfe.2_Missense_Mutation_p.G177R|NPNT_uc003hya.3_Missense_Mutation_p.G147R|NPNT_uc011cff.2_Missense_Mutation_p.G147R NM_001184691 NP_001171620 Q6UXI9 NPNT_HUMAN Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA. 147 EGF-like 4; calcium-binding (Potential). cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TGTTGTTAAAGGACAAATACG 0.517000 53 6 0 0 0.001168 0 0 ZC3H3 23144 broad.mit.edu 37 8 144621039 144621039 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:144621039G>A uc003yyd.2 - 1 527 c.498C>T c.(496-498)ccC>ccT p.P166P NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA. 166 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GTCCCCGAGGGGGCTCACCTT 0.632000 20 6 0 0 0.001984 0 0 RPA1 6117 broad.mit.edu 37 17 1787173 1787173 + Missense_Mutation SNP G A A rs142406311 byFrequency TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:1787173G>A uc002fto.2 + 12 1424 c.1309G>A c.(1309-1311)Ggg>Agg p.G437R NM_002945 NP_002936 P27694 RFA1_HUMAN Homo sapiens replication protein A1, 70kDa (RPA1), mRNA. 437 DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm metal ion binding|protein binding|single-stranded DNA binding p.G437W(2) breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 CGGAGTCGGAGGGAGTAACAC 0.507000 Nucleotide excision repair (NER) 68 9 0 0 0.004482 0 0 TMC3 342125 broad.mit.edu 37 15 81660664 81660664 + Missense_Mutation SNP G A A rs140022845 by1000genomes TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:81660664G>A uc021ssk.1 - 2 242 c.242C>T c.(241-243)gCg>gTg p.A81V TMC3_uc021ssj.1_Missense_Mutation_p.A81V|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.A81V NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN Homo sapiens transmembrane channel-like 3 (TMC3), mRNA. 81 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 AATGTTCTTCGCTTGTCTAAG 0.448000 94 9 0 0 0.004482 0 0 ELAVL4 1996 broad.mit.edu 37 1 50610828 50610828 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:50610828G>A uc001csb.2 + 1 477 c.209G>A c.(208-210)gGt>gAt p.G70D ELAVL4_uc001cry.3_Missense_Mutation_p.G73D|ELAVL4_uc001crz.3_Missense_Mutation_p.G70D|ELAVL4_uc001csa.3_Missense_Mutation_p.G87D|ELAVL4_uc001csc.3_Missense_Mutation_p.G70D|ELAVL4_uc009vyu.3_Missense_Mutation_p.G75D|ELAVL4_uc010omz.2_Missense_Mutation_p.G75D NM_021952 NP_068771 P26378 ELAV4_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA. 70 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 GGGAGCATTGGTGAAATAGAA 0.423000 47 7 0 0 0.003080 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317975 154317975 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:154317975C>T uc001fex.3 + 22 2747 c.2747C>T c.(2746-2748)aCc>aTc p.T916I NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 902 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TTTGCTTTCACCATGGTCCAC 0.488000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 146 66 0 0 0.003610 0 0 RYR1 6261 broad.mit.edu 37 19 39038922 39038922 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:39038922G>A uc002oit.3 + 88 12274 c.12144G>A c.(12142-12144)gtG>gtA p.V4048V RYR1_uc002oiu.3_Silent_p.V4043V|RYR1_uc002oiv.1_Silent_p.V957V NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 4048 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACATGCTCGTGGAATCCTCAT 0.567000 24 8 0 0 0.000443 0 0 CCDC90B 60492 broad.mit.edu 37 11 82991187 82991187 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:82991187G>A uc001pae.3 - 1 579 c.217C>T c.(217-219)Cat>Tat p.H73Y CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.H64Y NM_021825 NP_068597 Q9GZT6 CC90B_HUMAN Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA. 73 integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) TTCTCACCATGAGTTTCCAAG 0.363000 41 8 0 0 0.000978 0 0 POLR2H 5437 broad.mit.edu 37 3 184086000 184086001 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:184086000_184086001GG>AA uc003fok.2 + 4 458_459 c.371_372GG>AA c.(370-372)agg>aAA p.R124K NM_006232 NP_006223 P52434 RPAB3_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide H (POLR2H), mRNA. 124 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA-directed RNA polymerase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGCTCATGAGGCTGCAGGGGG 0.569000 46 7 0 0 0.004672 0 0 MYOZ2 51778 broad.mit.edu 37 4 120107261 120107261 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr4:120107261G>A uc003icp.4 + 5 914 c.701G>A c.(700-702)aGg>aAg p.R234K NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN Homo sapiens myozenin 2 (MYOZ2), mRNA. 234 protein phosphatase 2B binding p.N233N(1) endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 TCCTTTAATAGGACTCCTAAG 0.388000 39 11 0 0 0.001368 0 0 ANXA10 11199 broad.mit.edu 37 4 169086467 169086467 + Missense_Mutation SNP A G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr4:169086467A>G uc003irm.3 + 5 634 c.470A>G c.(469-471)aAc>aGc p.N157S ANXA10_uc003irn.3_Missense_Mutation_p.N29S NM_007193 NP_009124 Q9UJ72 ANX10_HUMAN Homo sapiens annexin A10 (ANXA10), mRNA. 157 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) ACTCTCATGAACTTGGTCCAG 0.323000 33 6 0 0 0.001984 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870548 51870549 + Missense_Mutation DNP GG AA AA rs149724132 byFrequency TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr20:51870548_51870549GG>AA uc002xwo.3 + 1 1438_1439 c.551_552GG>AA c.(550-552)cgg>cAA p.R184Q TSHZ2_uc021wex.1_Missense_Mutation_p.R181Q NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 184 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R184W(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TTGCCTTCTCGGTCCGTCTCGA 0.559000 38 8 0 0 0.004672 0 0 GABRA6 2559 broad.mit.edu 37 5 161117246 161117246 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:161117246G>A uc003lyu.2 + 6 1051 c.713G>A c.(712-714)aGg>aAg p.R238K GABRA6_uc003lyv.2_Missense_Mutation_p.R9K NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 238 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CACTTGCAAAGGAAGATGGGC 0.398000 TCGA Ovarian(5;0.080) 48 6 0 0 0.001984 0 0 DHX33 56919 broad.mit.edu 37 17 5356903 5356903 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:5356903G>A uc002gca.3 - 7 1594 c.1393C>T c.(1393-1395)Cca>Tca p.P465S DHX33_uc002gbz.3_Missense_Mutation_p.P236S|DHX33_uc002gcb.3_Missense_Mutation_p.P292S|DHX33_uc010clf.3_Missense_Mutation_p.P300S NM_020162 NP_001186628 Q9H6R0 DHX33_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA. 465 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CACTTACCTGGAGATGGCTTC 0.428000 67 8 0 0 0.004482 0 0 MYOM2 9172 broad.mit.edu 37 8 2026819 2026819 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:2026819G>A uc003wpx.4 + 11 1405 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 423 Fibronectin type-III 1. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TTGAAGATGTGAAGTAGGAAC 0.373000 52 30 0 0 0.002445 0 0 AGL 178 broad.mit.edu 37 1 100327208 100327208 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:100327208G>A uc001dsi.1 + 2 632 c.232G>A c.(232-234)Gat>Aat p.D78N AGL_uc001dsj.1_Missense_Mutation_p.D78N|AGL_uc001dsk.1_Missense_Mutation_p.D78N|AGL_uc001dsl.1_Missense_Mutation_p.D78N|AGL_uc001dsm.1_Missense_Mutation_p.D62N|AGL_uc001dsn.1_Missense_Mutation_p.D61N NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 78 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) AGATGATTCTGATAAATACTG 0.323000 44 6 0 0 0.001168 0 0 SFMBT1 51460 broad.mit.edu 37 3 52939159 52939159 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:52939159G>A uc003dgf.3 - 21 3217 c.2594C>T c.(2593-2595)gCc>gTc p.A865V SFMBT1_uc010hmr.3_Missense_Mutation_p.A769V|SFMBT1_uc003dgg.3_Missense_Mutation_p.A865V|SFMBT1_uc003dgh.3_Missense_Mutation_p.A865V NM_001005159 NP_057413 Q9UHJ3 SMBT1_HUMAN Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA. 865 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) TTCTCAGTTGGCAAACTGCTC 0.448000 37 6 0 0 0.001984 0 0 FAM83G 644815 broad.mit.edu 37 17 18881398 18881398 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:18881398C>T uc002guw.3 - 4 1748 c.1581G>A c.(1579-1581)ctG>ctA p.L527L SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA. 527 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 TGGGGAGCTCCAGGACCCAGC 0.647000 51 10 0 0 0.001368 0 0 UNC13A 23025 broad.mit.edu 37 19 17729741 17729741 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:17729741C>T uc021uqk.1 - 37 4342 c.4300G>A c.(4300-4302)Gag>Aag p.E1434K NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 1435 MHD2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TGACCCAGCTCCTTGGCTGCA 0.567000 45 17 0 0 0.001882 0 0 C1orf192 257177 broad.mit.edu 37 1 161335340 161335340 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:161335340C>T uc001gal.3 - 3 330 c.324G>A c.(322-324)ggG>ggA p.G108G NM_001013625 NP_001013647 Q5VTH2 CA192_HUMAN Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA. 108 endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CAGGACACAGCCCATTGGAGG 0.458000 85 47 0 0 0.003610 0 0 TATDN2 9797 broad.mit.edu 37 3 10320601 10320602 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:10320601_10320602GG>AA uc011atr.2 + 6 2759_2760 c.2178_2179GG>AA c.(2176-2181)ccgggc>ccAAgc p.G727S TATDN2_uc003bvg.2_Missense_Mutation_p.G727S|TATDN2_uc003bvf.3_Missense_Mutation_p.G727S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript|TATDN2_uc011atu.1_5'Flank|TATDN2_uc011atv.1_5'Flank|TATDN2_uc011atw.1_5'Flank|TATDN2_uc011auf.2_5'Flank|TATDN2_uc011aug.2_5'Flank|TATDN2_uc011atx.2_5'Flank|TATDN2_uc011aty.2_5'Flank|TATDN2_uc011atz.2_5'Flank|TATDN2_uc011aua.2_5'Flank|TATDN2_uc010hdl.3_5'Flank|TATDN2_uc011aub.2_5'Flank|TATDN2_uc010hdm.3_5'Flank|TATDN2_uc011auc.2_5'Flank|TATDN2_uc011aud.2_5'Flank|TATDN2_uc011aue.2_5'Flank NM_014760 NP_055575 Q93075 TATD2_HUMAN Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA. 727 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 ATGCCCACCCGGGCCTGGCCTT 0.535000 30 4 0 0 0.004672 0 0 SLC35F3 148641 broad.mit.edu 37 1 234452464 234452465 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:234452464_234452465CC>TT uc001hvy.1 + 4 1090_1091 c.945_946CC>TT c.(943-948)gccctc>gcTTtc p.L316F SLC35F3_uc001hwa.1_Missense_Mutation_p.L247F NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 247 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CGATGTCTGCCCTCTACAAGGT 0.574000 59 8 0 0 0.004672 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885966 180885966 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:180885966C>T uc001gok.2 + 1 794 c.727C>T c.(727-729)Cct>Tct p.P243S NM_020950 NP_066001 Q5VZ46 K1614_HUMAN Homo sapiens KIAA1614 (KIAA1614), mRNA. 243 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 AAGGTCCTACCCTTTTCCAGA 0.587000 76 52 0 0 0.003610 0 0 MCF2 4168 broad.mit.edu 37 X 138669924 138669924 + Nonsense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:138669924G>A uc011mwn.1 - 24 2914 c.2908C>T c.(2908-2910)Caa>Taa p.Q970* MCF2_uc004fav.3_Nonsense_Mutation_p.Q841*|MCF2_uc004fau.3_Nonsense_Mutation_p.Q825*|MCF2_uc010nsh.2_Nonsense_Mutation_p.Q825*|MCF2_uc011mwm.2_Nonsense_Mutation_p.Q786*|MCF2_uc011mwl.2_Nonsense_Mutation_p.Q802*|MCF2_uc011mwo.1_Nonsense_Mutation_p.Q901*|MCF2_uc004faw.2_Nonsense_Mutation_p.Q885* NM_001171878 NP_001165349 P10911 MCF2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA. 825 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 Rho guanyl-nucleotide exchange factor activity|protein binding 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) TCTGTTAATTGATCCTGTTGC 0.333000 42 21 0 0 0.002299 0 0 CYP3A7 1551 broad.mit.edu 37 7 99273788 99273788 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:99273788G>A uc003urq.3 - 1 217 c.115C>T c.(115-117)Cca>Tca p.P39S ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Missense_Mutation_p.P29S|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.P39S NM_000777 NP_000768 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA. 39 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) GTGGGCCCTGGAATTCCCAGT 0.453000 40 14 0 0 0.000958 0 0 JHDM1D 80853 broad.mit.edu 37 7 139833371 139833371 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:139833371G>A uc003vvm.3 - 2 370 c.366C>T c.(364-366)ttC>ttT p.F122F NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 122 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) ATTCCTTAATGAAAGTTCTAG 0.373000 36 15 0 0 0.002450 0 0 MYH2 4620 broad.mit.edu 37 17 10429120 10429120 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:10429120C>T uc010coi.3 - 30 4389 c.4261G>A c.(4261-4263)Gaa>Aaa p.E1421K AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1421K|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1421 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTCGTCTTTTCGAGGGAAGCA 0.512000 50 6 0 0 0.003080 0 0 ABCC6 368 broad.mit.edu 37 16 16282690 16282690 + Nonsense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr16:16282690G>A uc002den.4 - 12 1814 c.1777C>T c.(1777-1779)Cag>Tag p.Q593* ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Nonsense_Mutation_p.Q605* NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 593 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.V592I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CACCTCACCTGGACGAGGGAG 0.572000 13 4 0 0 0.000602 0 0 CNGB3 54714 broad.mit.edu 37 8 87738864 87738864 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:87738864G>A uc003ydx.3 - 2 281 c.233C>T c.(232-234)tCc>tTc p.S78F NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 78 signal transduction|visual perception integral to membrane cGMP binding p.S78F(2) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATCTCCAGAGGAATTTTTCTT 0.428000 209 17 0 0 0.000958 0 0 MYH9 4627 broad.mit.edu 37 22 36702035 36702035 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr22:36702035G>A uc003apg.3 - 16 2331 c.2100C>T c.(2098-2100)ggC>ggT p.G700G MYH9_uc003aph.1_Silent_p.G564G NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 700 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 AGATACGGATGCCCTCGAGAA 0.642000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 64 9 0 0 0.004482 0 0 GLCE 26035 broad.mit.edu 37 15 69548413 69548414 + Missense_Mutation DNP GG TA TA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:69548413_69548414GG>TA uc002ary.1 + 2 496_497 c.268_269GG>TA c.(268-270)ggc>TAc p.G90Y NM_015554 NP_056369 O94923 GLCE_HUMAN Homo sapiens glucuronic acid epimerase (GLCE), mRNA. 90 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 TGTTGTTGGGGGCTTCAATAGC 0.455000 42 7 0 0 0.004672 0 0 FBXO42 54455 broad.mit.edu 37 1 16577797 16577797 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:16577797G>A uc001ayg.3 - 9 1738 c.1522C>T c.(1522-1524)Ccc>Tcc p.P508S FBXO42_uc001ayf.3_Missense_Mutation_p.P415S NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN Homo sapiens F-box protein 42 (FBXO42), mRNA. 508 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) CTGGAAGCGGGTTTCAGATCC 0.488000 53 5 0 0 0.001168 0 0 IKZF3 22806 broad.mit.edu 37 17 37922309 37922309 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:37922309G>A uc002hsu.3 - 7 1326 c.1264C>T c.(1264-1266)Ccc>Tcc p.P422S IKZF3_uc002htd.3_Missense_Mutation_p.P388S|IKZF3_uc010cwd.3_Missense_Mutation_p.P279S|IKZF3_uc002hsv.3_Missense_Mutation_p.P349S|IKZF3_uc010cwe.3_Missense_Mutation_p.P288S|IKZF3_uc010cwf.3_Missense_Mutation_p.P240S|IKZF3_uc010cwg.3_Missense_Mutation_p.P201S|IKZF3_uc002hsw.3_Missense_Mutation_p.P383S|IKZF3_uc002hsx.3_Missense_Mutation_p.P366S|IKZF3_uc002hsy.3_Missense_Mutation_p.P383S|IKZF3_uc002hsz.3_Missense_Mutation_p.P327S|IKZF3_uc002hta.3_Missense_Mutation_p.P344S|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.P335S|IKZF3_uc002htc.3_Missense_Mutation_p.P175S|IKZF3_uc010wel.2_Missense_Mutation_p.P175S NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA. 422 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TAAGAGCGGGGAACCTCCTTC 0.537000 63 16 0 0 0.004007 0 0 CFH 3075 broad.mit.edu 37 1 196887503 196887503 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:196887503G>A uc001gtp.3 + 9 1841 c.1704G>A c.(1702-1704)agG>agA p.R568R CFH_uc021pgt.1_Silent_p.R191R|CFH_uc009wyy.3_Silent_p.R567R|CFH_uc001gto.3_Silent_p.R321R NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 1219 Sushi 10. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CAGTGTGTAGGGAAGGCATAG 0.378000 72 8 0 0 0.000673 0 0 PDE10A 10846 broad.mit.edu 37 6 165827142 165827142 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:165827142C>T uc003qun.3 - 13 1340 c.1095G>A c.(1093-1095)cgG>cgA p.R365R PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Silent_p.R295R|PDE10A_uc003quo.3_Silent_p.R375R NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 365 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) ACAGGATGTTCCGCGTGGTGT 0.473000 23 7 0 0 0.001984 0 0 FOXS1 2307 broad.mit.edu 37 20 30432786 30432786 + Missense_Mutation SNP C G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr20:30432786C>G uc002wwt.1 - 0 635 c.560G>C c.(559-561)cGg>cCg p.R187P NM_004118 NP_004109 O43638 FOXS1_HUMAN Homo sapiens forkhead box S1 (FOXS1), mRNA. 187 Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P186P(1) kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 CATGGGTGGCCGAGGCCTGCC 0.627000 24 10 0 0 0.000673 0 0 GDF5 8200 broad.mit.edu 37 20 34022260 34022260 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr20:34022260C>T uc010gfc.1 - 1 1194 c.953G>A c.(952-954)cGg>cAg p.R318Q GDF5OS_uc002xcj.3_Missense_Mutation_p.P224L|GDF5_uc002xck.1_Missense_Mutation_p.R318Q NM_000557 NP_000548 P43026 GDF5_HUMAN Homo sapiens growth differentiation factor 5 (GDF5), mRNA. 318 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GGCCCTGCCCCGTTCCCAGGC 0.657000 9 4 0 0 0.000248 0 0 RP1 6101 broad.mit.edu 37 8 55534734 55534734 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:55534734G>A uc003xsd.1 + 2 821 c.673G>A c.(673-675)Gag>Aag p.E225K RP1_uc011ldy.1_Missense_Mutation_p.E225K NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 225 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGCAGGAAGGGAGCCATTTAA 0.483000 24 9 0 0 0.000443 0 0 NCAPD2 9918 broad.mit.edu 37 12 6624077 6624077 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:6624077G>A uc001qoo.2 + 8 1024 c.978G>A c.(976-978)ctG>ctA p.L326L NCAPD2_uc009zen.1_Silent_p.L198L|NCAPD2_uc010sfd.1_Silent_p.L281L NM_014865 NP_055680 Q15021 CND1_HUMAN Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA. 326 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 TAGATCACCTGGATGGAGAAG 0.473000 44 11 0 0 0.000978 0 0 AQP2 359 broad.mit.edu 37 12 50347952 50347952 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:50347952G>A uc001rvn.3 + 1 465 c.375G>A c.(373-375)acG>acA p.T125T NM_000486 NP_000477 P41181 AQP2_HUMAN Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA. 125 T -> M (in ANDI). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 GCAACAGCACGACGGCTGGCC 0.632000 49 10 0 0 0.001368 0 0 MTSS1 9788 broad.mit.edu 37 8 125716371 125716371 + Splice_Site SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:125716371C>T uc003yrl.2 - 2 668 c.134_splice c.e2+1 p.R45_splice MTSS1_uc003yrj.2_Splice_Site_p.R45_splice|MTSS1_uc003yrk.2_Splice_Site_p.R45_splice NM_014751 NP_055566 O43312 MTSS1_HUMAN Homo sapiens metastasis suppressor 1 (MTSS1), mRNA. 45 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TTCTACTTACCGAAGCTGGGA 0.448000 61 12 0 0 0.000978 0 0 EP400 57634 broad.mit.edu 37 12 132522579 132522579 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:132522579C>T uc001ujn.3 + 31 6297 c.6145C>T c.(6145-6147)Ctt>Ttt p.L2049F EP400_uc021rgq.1_Missense_Mutation_p.L2048F|EP400_uc001ujm.3_Missense_Mutation_p.L1968F NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2085 Helicase C-terminal. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GTTTGTGGTGCTTTCTCAGGA 0.468000 72 12 0 0 0.002450 0 0 TOX2 84969 broad.mit.edu 37 20 42694499 42694499 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr20:42694499C>T uc010ggo.3 + 6 1148 c.1108C>T c.(1108-1110)Cct>Tct p.P370S TOX2_uc002xle.4_Missense_Mutation_p.P328S|TOX2_uc010ggp.3_Missense_Mutation_p.P328S|TOX2_uc002xlf.4_Missense_Mutation_p.P352S|TOX2_uc010zwk.2_Missense_Mutation_p.P248S NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGGGGCCTCCCCTGCCAGCCT 0.697000 33 9 0 0 0.000673 0 0 PCLO 27445 broad.mit.edu 37 7 82764395 82764395 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:82764395G>A uc003uhx.2 - 2 2760 c.2471C>T c.(2470-2472)cCt>cTt p.P824L PCLO_uc003uhv.2_Missense_Mutation_p.P824L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 770 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P824L(6)|p.P770L(2)|p.R823L(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTGATGCAGGTCGAGGTAT 0.438000 141 24 0 0 0.003954 0 0 CEP152 22995 broad.mit.edu 37 15 49054838 49054838 + Missense_Mutation SNP T C C TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:49054838T>C uc001zwz.3 - 17 2505 c.2312A>G c.(2311-2313)aAg>aGg p.K771R CEP152_uc001zwy.3_Missense_Mutation_p.K771R|CEP152_uc001zxa.2_Missense_Mutation_p.K678R NM_001194998 NP_001181927 O94986 CE152_HUMAN Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA. 771 G2/M transition of mitotic cell cycle|centrosome duplication centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CTGCCACTCCTTTTCAAGCTG 0.338000 55 6 0 0 0.001984 0 0 KLK13 26085 broad.mit.edu 37 19 51563731 51563732 + Missense_Mutation DNP GA AC AC TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:51563731_51563732GA>AC uc002pvn.3 - 1 240_241 c.197_198TC>GT c.(196-198)gtc>gGT p.V66G KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.V66G|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Missense_Mutation_p.V66G NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA. 66 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) ATTTGGGGTGGACCAGGACTCC 0.614000 32 8 0 0 0.004672 0 0 JRK 8629 broad.mit.edu 37 8 143747283 143747283 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:143747283G>A uc003ywp.3 - 1 709 c.195C>T c.(193-195)ttC>ttT p.F65F JRK_uc003ywo.3_Silent_p.F65F|JRK_uc022bcb.1_Non-coding_Transcript|JRK_uc022bcc.1_5'Flank NM_003724 NP_003715 Homo sapiens jerky homolog (mouse) (JRK), transcript variant 1, mRNA. all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) agctggcgaagaaccggagca 0.642000 12 6 0 0 0.001984 0 0 ATG14 22863 broad.mit.edu 37 14 55836569 55836569 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr14:55836569G>A uc001xbx.2 - 9 1283 c.1247C>T c.(1246-1248)tCa>tTa p.S416L FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S303L NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA. 416 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 GCTCTCATCTGATTCTCCAGC 0.542000 41 9 0 0 0.000978 0 0 TTLL2 83887 broad.mit.edu 37 6 167753853 167753853 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:167753853G>A uc003qvs.1 + 2 553 c.465G>A c.(463-465)agG>agA p.R155R NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA. 155 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AGCTTACCAGGAAAGACTGTT 0.507000 20 4 0 0 0.000248 0 0 TSC22D1 8848 broad.mit.edu 37 13 45008793 45008793 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr13:45008793G>A uc001uzn.4 - 2 3682 c.3191C>T c.(3190-3192)cCa>cTa p.P1064L TSC22D1_uc001uzo.2_Intron|TSC22D1_uc001uzm.4_Missense_Mutation_p.P135L|TSC22D1_uc021riz.1_Missense_Mutation_p.P77L|TSC22D1_uc021rja.1_Missense_Mutation_p.P77L NM_183422 NP_904358 Q15714 T22D1_HUMAN Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA. 1064 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CTGCGATGCTGGCTGGGCGGG 0.652000 24 4 0 0 0.000602 0 0 OR8H2 390151 broad.mit.edu 37 11 55872953 55872953 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:55872953C>T uc010riy.2 + 0 435 c.435C>T c.(433-435)atC>atT p.I145I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TCGCTCTCATCACTGGGCCTT 0.448000 HNSCC(53;0.14) 81 8 0 0 0.003080 0 0 CCDC83 220047 broad.mit.edu 37 11 85627226 85627226 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:85627226G>A uc001pbg.1 + 10 1635 c.1123G>A c.(1123-1125)Ggg>Agg p.G375R CCDC83_uc001pbh.1_Missense_Mutation_p.G344R|CCDC83_uc001pbj.1_Missense_Mutation_p.G244R|CCDC83_uc001pbi.1_Non-coding_Transcript NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA. 344 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CACAGAGTTTGGGGACACTGA 0.358000 106 13 0 0 0.001855 0 0 PLCB1 23236 broad.mit.edu 37 20 8696984 8696984 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr20:8696984G>A uc002wnb.3 + 12 1327 c.1324G>A c.(1324-1326)Gaa>Aaa p.E442K PLCB1_uc010zrb.1_Missense_Mutation_p.E341K|PLCB1_uc002wna.3_Missense_Mutation_p.E442K|PLCB1_uc002wnc.1_Missense_Mutation_p.E341K|PLCB1_uc002wnd.1_Missense_Mutation_p.E19K NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 442 PI-PLC X-box. CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GGAGCCCCTGGAAAAATATCC 0.438000 28 11 0 0 0.001368 0 0 PCSK1 5122 broad.mit.edu 37 5 95746679 95746679 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:95746679C>T uc003kls.2 - 7 1133 c.894G>A c.(892-894)ggG>ggA p.G298G PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Silent_p.G251G NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 298 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGACCCCTTCCCCTGTCTCC 0.473000 41 6 0 0 0.004482 0 0 MAPK3 5595 broad.mit.edu 37 16 30128278 30128278 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr16:30128278C>T uc002dws.3 - 6 1054 c.954G>A c.(952-954)cgG>cgA p.R318R BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.R204R|MAPK3_uc002dwv.4_Silent_p.R274R|MAPK3_uc002dwt.3_Silent_p.R318R NM_002746 NP_002737 P27361 MK03_HUMAN Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA. 318 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) CCACTGTGATCCGTTTATTGG 0.602000 90 17 0 0 0.001523 0 0 MYO1F 4542 broad.mit.edu 37 19 8606848 8606848 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:8606848C>T uc002mkg.3 - 14 1690 c.1552G>A c.(1552-1554)Gag>Aag p.E518K NM_012335 NP_036467 O00160 MYO1F_HUMAN Homo sapiens myosin IF (MYO1F), mRNA. 518 Myosin head-like. unconventional myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CGGTTCCTCTCGCAGAAGCCG 0.617000 24 5 0 0 0.001984 0 0 NAT10 55226 broad.mit.edu 37 11 34156825 34156825 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:34156825C>T uc001mvk.3 + 18 2259 c.2015C>T c.(2014-2016)aCc>aTc p.T672I NAT10_uc010ren.2_Missense_Mutation_p.T600I NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA. 672 N-acetyltransferase. nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GAAATTCACACCGTAAGCAGC 0.507000 52 8 0 0 0.003080 0 0 RGS22 26166 broad.mit.edu 37 8 101016257 101016257 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:101016257C>T uc003yjb.1 - 16 2719 c.2524G>A c.(2524-2526)Gat>Aat p.D842N RGS22_uc003yja.1_Missense_Mutation_p.D661N|RGS22_uc003yjc.1_Missense_Mutation_p.D830N|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.D231N|SNORD77_uc022azg.1_5'Flank NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 842 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.W841C(1) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GGAACATTATCCCAATATTCT 0.358000 32 5 0 0 0.001168 0 0 MRO 83876 broad.mit.edu 37 18 48333145 48333145 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr18:48333145C>T uc010dpa.3 - 2 366 c.217G>A c.(217-219)Gac>Aac p.D73N MRO_uc010xdn.2_Missense_Mutation_p.D59N|MRO_uc002lew.4_Missense_Mutation_p.D59N|MRO_uc010dpb.3_Missense_Mutation_p.D73N|MRO_uc010dpc.3_Missense_Mutation_p.D59N|MRO_uc002lex.4_Missense_Mutation_p.D59N NM_001127176 NP_001120648 Q9BYG7 MSTRO_HUMAN Homo sapiens maestro (MRO), transcript variant 4, mRNA. 59 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) GCACTGGGGTCCCGAGCTCTT 0.512000 76 25 0 0 0.003954 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448664 91448665 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:91448664_91448665CC>TT uc010bnz.2 + 2 431_432 c.316_317CC>TT c.(316-318)ccc>TTc p.P106F MAN2A2_uc010boa.3_Missense_Mutation_p.P148F|MAN2A2_uc002bqc.3_Missense_Mutation_p.P106F|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA. 106 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGAGCCCCGGCCCAGCTTCTTC 0.658000 133 12 0 0 0.004672 0 0 FAM5C 339479 broad.mit.edu 37 1 190250796 190250796 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:190250796G>A uc001gse.1 - 2 553 c.321C>T c.(319-321)ttC>ttT p.F107F FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 107 extracellular region p.F107L(2) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGTTGCGGAAGAATTCAGGGG 0.433000 20 13 0 0 0.004007 0 0 ADAM28 10863 broad.mit.edu 37 8 24200663 24200663 + Missense_Mutation SNP C T T rs139411715 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:24200663C>T uc003xdy.3 + 16 1963 c.1880C>T c.(1879-1881)aCc>aTc p.T627I ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.T314I NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 627 Cys-rich.|EGF-like. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TACAAATCAACCAATTGCTCA 0.368000 44 9 0 0 0.000443 0 0 PDE1A 5136 broad.mit.edu 37 2 183104998 183104998 + Missense_Mutation SNP A C C TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:183104998A>C uc002uos.3 - 3 321 c.237T>G c.(235-237)gaT>gaG p.D79E PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.D79E|PDE1A_uc010zfq.1_Missense_Mutation_p.D79E|PDE1A_uc002uor.3_Missense_Mutation_p.D63E|PDE1A_uc002uou.3_Missense_Mutation_p.D45E NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 79 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CACTGAGCTCATCTTCAGTAT 0.363000 38 5 0 0 0.000602 0 0 SI 6476 broad.mit.edu 37 3 164716418 164716418 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:164716418G>A uc003fei.3 - 37 4513 c.4450C>T c.(4450-4452)Cgt>Tgt p.R1484C NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1484 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TACGTGGAACGAGAAATTACA 0.383000 HNSCC(35;0.089) 50 6 0 0 0.003080 0 0 GOLGA4 2803 broad.mit.edu 37 3 37367211 37367211 + Silent SNP T C C TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:37367211T>C uc003cgv.3 + 13 4194 c.3834T>C c.(3832-3834)ctT>ctC p.L1278L GOLGA4_uc010hgr.2_Silent_p.L839L|GOLGA4_uc003cgw.3_Silent_p.L1300L|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Silent_p.L1159L NM_002078 NP_002069 Q13439 GOGA4_HUMAN Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA. 1278 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AAGCACAACTTAGACAGTTGA 0.353000 32 15 0 0 0.003163 0 0 GAS2 2620 broad.mit.edu 37 11 22833509 22833509 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:22833509G>A uc009yie.3 + 7 1195 c.889G>A c.(889-891)Gat>Aat p.D297N GAS2_uc001mqm.3_Missense_Mutation_p.D297N|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.D297N NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 297 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 CATGAATCCAGATAACTACTT 0.458000 33 4 0 0 0.000602 0 0 ATP8B1 5205 broad.mit.edu 37 18 55399013 55399013 + Silent SNP C A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr18:55399013C>A uc002lgw.3 - 1 147 c.27G>T c.(25-27)acG>acT p.T9T LOC100505549_uc002lgv.1_Non-coding_Transcript NM_005603 NP_005594 O43520 AT8B1_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA. 9 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) CGTCAAATGTCGTTTCTGAGT 0.433000 82 18 9.57634e-11 4.89735e-10 0.003330 1 0 KIF9 64147 broad.mit.edu 37 3 47282423 47282423 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:47282423C>T uc010hjp.3 - 17 2396 c.1792G>A c.(1792-1794)Gaa>Aaa p.E598K KIF9_uc003cqx.3_Missense_Mutation_p.E598K|KIF9_uc003cqy.3_Missense_Mutation_p.E533K|KIF9_uc011bat.1_Non-coding_Transcript|FLJ39534_uc003cqw.2_Intron NM_001134878 NP_878905 Q9HAQ2 KIF9_HUMAN Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA. 598 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GATTTGTTTTCTTTGAAAATT 0.488000 69 21 0 0 0.002299 0 0 GRAMD2 196996 broad.mit.edu 37 15 72455626 72455626 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:72455626G>A uc002atq.3 - 9 961 c.937C>T c.(937-939)Ctc>Ttc p.L313F GRAMD2_uc010bis.2_Missense_Mutation_p.L313F|GRAMD2_uc010ukh.2_Missense_Mutation_p.L107F NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA. 313 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 AAGACCTTGAGGAGCCGGTAA 0.562000 33 8 0 0 0.004482 0 0 SLC9C1 285335 broad.mit.edu 37 3 111996615 111996615 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:111996615G>A uc003dyu.3 - 4 633 c.411C>T c.(409-411)acC>acT p.T137T SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Silent_p.T137T NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 137 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ATAACCATTGGGTAGGCTTCA 0.358000 54 12 0 0 0.000978 0 0 MORC1 27136 broad.mit.edu 37 3 108751625 108751625 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:108751625C>T uc003dxl.3 - 15 1594 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K MORC1_uc011bhn.2_Missense_Mutation_p.E503K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 503 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AATTCTTTTTCCTGATAATTA 0.289000 45 10 0 0 0.001368 0 0 BRWD3 254065 broad.mit.edu 37 X 79945479 79945479 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:79945479G>A uc004edt.3 - 31 3978 c.3715C>T c.(3715-3717)Ctt>Ttt p.L1239F BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.L1068F|BRWD3_uc004edq.3_Missense_Mutation_p.L835F|BRWD3_uc010nmj.2_Missense_Mutation_p.L835F|BRWD3_uc004edr.3_Missense_Mutation_p.L909F|BRWD3_uc004eds.3_Missense_Mutation_p.L835F|BRWD3_uc004edo.3_Missense_Mutation_p.L835F|BRWD3_uc004edu.3_Missense_Mutation_p.L909F|BRWD3_uc004edv.3_Missense_Mutation_p.L835F|BRWD3_uc004edw.3_Missense_Mutation_p.L835F|BRWD3_uc004edx.3_Missense_Mutation_p.L835F|BRWD3_uc004edy.3_Missense_Mutation_p.L835F|BRWD3_uc004edz.3_Missense_Mutation_p.L909F|BRWD3_uc004eea.3_Missense_Mutation_p.L909F|BRWD3_uc004eeb.3_Missense_Mutation_p.L835F NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 1239 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 ATAAATCGAAGTAAGACATCA 0.299000 6 4 0 0 0.001168 0 0 MRPL28 10573 broad.mit.edu 37 16 418402 418402 + Missense_Mutation SNP G C C TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr16:418402G>C uc002cgs.2 - 4 667 c.589C>G c.(589-591)Cca>Gca p.P197A NM_006428 NP_006419 Q13084 RM28_HUMAN Homo sapiens mitochondrial ribosomal protein L28 (MRPL28), nuclear gene encoding mitochondrial protein, mRNA. 197 translation mitochondrial ribosome protein binding|structural constituent of ribosome breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1) 5 Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064) TCCTCCTCTGGGATGGCAAAT 0.622000 43 11 0 0 0.001368 0 0 TMCO4 255104 broad.mit.edu 37 1 20066390 20066390 + Missense_Mutation SNP G A A rs145902797 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:20066390G>A uc001bcn.3 - 11 1348 c.1106C>T c.(1105-1107)cCc>cTc p.P369L TMCO4_uc001bco.1_Missense_Mutation_p.P369L|TMCO4_uc001bcp.1_Missense_Mutation_p.P329L NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA. 369 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CACCCCCCAGGGGTTGTCGAT 0.617000 36 5 0 0 0.001984 0 0 VWA3A 146177 broad.mit.edu 37 16 22132294 22132294 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr16:22132294C>T uc010vbq.2 + 12 1218 c.1122C>T c.(1120-1122)tcC>tcT p.S374S VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Silent_p.S361S NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA. 374 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CTTAGATTTCCACAGAGATTA 0.438000 15 8 0 0 0.004482 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562470 140562470 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:140562470C>T uc003liv.3 + 0 1491 c.336C>T c.(334-336)aaC>aaT p.N112N NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 112 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAATGGAAAACCCTTTAGAAA 0.398000 14 4 0 0 0.000602 0 0 SART1 9092 broad.mit.edu 37 11 65733863 65733863 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:65733863G>A uc001ogl.3 + 8 1116 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K SART1_uc010rot.1_Silent_p.L227L NM_005146 NP_005137 O43290 SNUT1_HUMAN Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA. 342 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CGAAGAGCTTGAAGGGGAGCG 0.622000 22 4 0 0 0.000602 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302184 128302184 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:128302184C>T uc003kuy.3 + 1 750 c.354C>T c.(352-354)ttC>ttT p.F118F SLC27A6_uc003kuz.3_Silent_p.F118F NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA. 118 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGCCGGACTTCGTTCACGTGT 0.567000 14 4 0 0 0.000248 0 0 SDK2 54549 broad.mit.edu 37 17 71354240 71354240 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:71354240G>A uc010dfm.3 - 39 5571 c.5571C>T c.(5569-5571)taC>taT p.Y1857Y SDK2_uc002jjt.4_Silent_p.Y997Y|SDK2_uc010dfn.2_Silent_p.Y1536Y NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1857 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CCTCGATGACGTAGCGGGTGA 0.652000 131 12 0 0 0.001855 0 0 SLC2A7 155184 broad.mit.edu 37 1 9074868 9074868 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:9074868C>T uc009vmo.1 - 6 775 c.775G>A c.(775-777)Gag>Aag p.E259K NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 259 integral to membrane|plasma membrane sugar transmembrane transporter activity p.E259K(2) NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GCCCGGGCCTCCGCACGCATG 0.687000 2 3 0 0 0.004672 0 0 C1orf105 92346 broad.mit.edu 37 1 172434488 172434488 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:172434488G>A uc001gik.3 + 5 589 c.391G>A c.(391-393)Gat>Aat p.D131N NM_139240 NP_640333 O95561 CA105_HUMAN Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA. 131 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 GCCTTTCCATGATGACATCCC 0.368000 70 8 0 0 0.000443 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121650643 121650643 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:121650643G>A uc003vjy.3 + 11 1938 c.1543G>A c.(1543-1545)Gat>Aat p.D515N PTPRZ1_uc011knt.2_Missense_Mutation_p.D515N|PTPRZ1_uc003vjz.3_Missense_Mutation_p.D515N NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 515 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CACAGAAAAAGATATTTCCTT 0.413000 48 23 0 0 0.002780 0 0 HIPK2 28996 broad.mit.edu 37 7 139311392 139311392 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:139311392G>A uc003vvf.4 - 5 1845 c.1574C>T c.(1573-1575)cCc>cTc p.P525L HIPK2_uc003vvd.4_Missense_Mutation_p.P525L NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA. 525 Protein kinase. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction PML body|centrosome|nuclear membrane ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GGTGACAAAGGGATGGTTCAG 0.498000 17 9 0 0 0.004482 0 0 RERG 85004 broad.mit.edu 37 12 15262345 15262345 + Missense_Mutation SNP T C C TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:15262345T>C uc001rcs.3 - 3 439 c.299A>G c.(298-300)aAc>aGc p.N100S RERG_uc001rct.3_Missense_Mutation_p.N100S|RERG_uc010shu.2_Missense_Mutation_p.N81S NM_032918 NP_116307 Q96A58 RERG_HUMAN Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA. 100 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus GDP binding|GTP binding|GTPase activity|estrogen receptor binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 ATCTAGGATGTTCTTAAGTGG 0.493000 157 31 0 0 0.002096 0 0 GIMAP8 155038 broad.mit.edu 37 7 150163850 150163851 + Missense_Mutation DNP GG AA AA rs150937690 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:150163850_150163851GG>AA uc003whj.3 + 1 394_395 c.64_65GG>AA c.(64-66)gga>AAa p.G22K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 22 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding p.G22G(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ATGCCGCTCGGGAAAAAGTGCC 0.525000 43 12 0 0 0.004672 0 0 KLC1 3831 broad.mit.edu 37 14 104056554 104056554 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr14:104056554C>T uc010tyc.2 + 4 553 c.552C>T c.(550-552)ttC>ttT p.F184F KLC1_uc010tyd.1_Intron NM_032374 NP_115750 Q07866 KLC1_HUMAN Homo sapiens apoptogenic 1 (APOPT1), mRNA. 0 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) TCACCTTCTTCATGGGAAAAG 0.512000 116 8 0 0 0.004482 0 0 C7orf34 135927 broad.mit.edu 37 7 142637485 142637486 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:142637485_142637486GG>AA uc003wca.2 + 1 296_297 c.255_256GG>AA c.(253-258)gtgggt>gtAAgt p.G86S NM_178829 NP_849151 Q96L11 CG034_HUMAN Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA. 61 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) CCTCCTCAGTGGGTGAGATGTG 0.550000 53 26 0 0 0.004672 0 0 TEX15 56154 broad.mit.edu 37 8 30703356 30703356 + Missense_Mutation SNP T C C TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:30703356T>C uc003xil.3 - 0 3178 c.3178A>G c.(3178-3180)Act>Gct p.T1060A NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 1060 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AAATGCTTAGTAGAATAATAT 0.328000 43 15 0 0 0.003163 0 0 NEFM 4741 broad.mit.edu 37 8 24774698 24774698 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:24774698C>T uc003xed.4 + 2 1363 c.1330C>T c.(1330-1332)Ccc>Tcc p.P444S NEFM_uc011lac.1_Missense_Mutation_p.P444S|NEFM_uc010lue.3_Missense_Mutation_p.P68S NM_005382 NP_005373 P07197 NFM_HUMAN Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA. 444 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GGTGGAAGCTCCCAAGCTTAA 0.463000 33 4 0 0 0.000602 0 0 CYFIP1 23191 broad.mit.edu 37 15 22933600 22933600 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:22933600C>T uc001yus.3 + 6 713 c.609C>T c.(607-609)tcC>tcT p.S203S CYFIP1_uc001yut.3_Silent_p.S203S|CYFIP1_uc010aya.1_Silent_p.S231S NM_014608 NP_055423 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA. 203 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) ATCCACAGTCCATCCAGGAAT 0.438000 28 5 0 0 0.001168 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56736307 56736307 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:56736307C>T uc002qmq.3 - 1 275 c.109G>A c.(109-111)Gac>Aac p.D37N ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.D37N|ZSCAN5A_uc002qms.1_Missense_Mutation_p.D37N NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA. 37 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GGGTCCACGTCGTGATTTCCA 0.527000 52 5 0 0 0.001168 0 0 PDE5A 8654 broad.mit.edu 37 4 120528041 120528041 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr4:120528041G>A uc003idh.3 - 1 719 c.564C>T c.(562-564)ttC>ttT p.F188F PDE5A_uc003idf.3_Silent_p.F146F|PDE5A_uc003idg.3_Silent_p.F136F NM_001083 NP_246273 O76074 PDE5A_HUMAN Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA. 188 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) CACAGACAAGGAACAGGGAAT 0.408000 56 15 0 0 0.004990 0 0 WDR3 10885 broad.mit.edu 37 1 118501935 118501935 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:118501935G>A uc010oxe.1 + 26 2763 c.2697G>A c.(2695-2697)atG>atA p.M899I WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN Homo sapiens WD repeat domain 3 (WDR3), mRNA. 899 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GCTTCAATATGGCTGGTCTTG 0.393000 31 12 0 0 0.002450 0 0 PARP1 142 broad.mit.edu 37 1 226564912 226564912 + Missense_Mutation SNP T C C TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:226564912T>C uc001hqd.4 - 12 2009 c.1838A>G c.(1837-1839)cAc>cGc p.H613R NM_001618 NP_001609 P09874 PARP1_HUMAN Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA. 613 H -> Q (in Ref. 3; AAA60155). cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TTTCATGAAGTGCTCAATGGC 0.478000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 234 9 0 0 0.000673 0 0 KRT75 9119 broad.mit.edu 37 12 52827645 52827645 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:52827645C>T uc001saj.2 - 0 466 c.444G>A c.(442-444)gaG>gaA p.E148E NM_004693 NP_004684 O95678 K2C75_HUMAN Homo sapiens keratin 75 (KRT75), mRNA. 148 Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) GCTCGCGCTCCTCGGCCCGCA 0.562000 45 13 0 0 0.002450 0 0 COL6A3 1293 broad.mit.edu 37 2 238303716 238303716 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:238303716C>T uc002vwl.2 - 2 508 c.223G>A c.(223-225)Gat>Aat p.D75N COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.D75N NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 75 Nonhelical region.|VWFA 1. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AAATGGAAATCATTTTCTCCC 0.388000 24 10 0 0 0.000978 0 0 CNTN6 27255 broad.mit.edu 37 3 1444027 1444027 + Missense_Mutation SNP G C C TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:1444027G>C uc003boz.3 + 21 3110 c.2843G>C c.(2842-2844)aGt>aCt p.S948T CNTN6_uc011asj.2_Missense_Mutation_p.S876T|CNTN6_uc003bpa.3_Missense_Mutation_p.S948T NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 948 Fibronectin type-III 4. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AACAGACAGAGTAAAACTCAT 0.368000 31 8 0 0 0.000443 0 0 ZNF830 91603 broad.mit.edu 37 17 33289448 33289449 + Missense_Mutation DNP CC TT TT rs143227754 byFrequency TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:33289448_33289449CC>TT uc002hih.4 + 0 900_901 c.863_864CC>TT c.(862-864)tcc>tTT p.S288F CCT6B_uc002hig.3_5'Flank|CCT6B_uc010ctg.3_5'Flank|CCT6B_uc010wcc.2_5'Flank NM_052857 NP_443089 Q96NB3 ZN830_HUMAN Homo sapiens zinc finger protein 830 (ZNF830), mRNA. 288 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) AACACTATTTCCGAAGCCATAG 0.500000 48 6 0 0 0.004672 0 0 DRP2 1821 broad.mit.edu 37 X 100497922 100497922 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:100497922C>T uc004egz.2 + 8 1374 c.1005C>T c.(1003-1005)ctC>ctT p.L335L DRP2_uc011mrh.1_Silent_p.L257L NM_001939 NP_001164655 Q13474 DRP2_HUMAN Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA. 335 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 TTAAGCAGCTCCAGGATGCCC 0.532000 21 13 0 0 0.002450 0 0 ENPP2 5168 broad.mit.edu 37 8 120620200 120620200 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:120620200G>A uc003yos.2 - 8 881 c.795C>T c.(793-795)acC>acT p.T265T ENPP2_uc010mdd.2_Silent_p.T265T|ENPP2_uc003yot.2_Silent_p.T265T NM_006209 NP_006200 Q13822 ENPP2_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA. 265 G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCCCTTGCTTGGTGGCTGTAA 0.318000 18 4 0 0 0.000602 0 0 TMCC3 57458 broad.mit.edu 37 12 94965246 94965246 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:94965246G>A uc001tdj.2 - 3 1517 c.1399C>T c.(1399-1401)Ctg>Ttg p.L467L TMCC3_uc001tdi.2_Silent_p.L436L NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA. 467 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 ATGGCACACAGGATATGGTCC 0.408000 31 6 0 0 0.001168 0 0 CWC25 54883 broad.mit.edu 37 17 36971165 36971165 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:36971165G>A uc002hqu.3 - 2 530 c.377C>T c.(376-378)tCc>tTc p.S126F CWC25_uc010wdv.2_Missense_Mutation_p.S63F|CWC25_uc010wdw.1_Non-coding_Transcript|CWC25_uc010wdx.1_Non-coding_Transcript NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA. 126 central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 14 GTCAAGAAGGGAATTGGCACC 0.507000 25 8 0 0 0.004482 0 0 TRRAP 8295 broad.mit.edu 37 7 98609128 98609128 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:98609128C>T uc003upp.3 + 70 11474 c.11265C>T c.(11263-11265)gtC>gtT p.V3755V TRRAP_uc011kis.2_Silent_p.V3726V|TRRAP_uc003upr.3_Silent_p.V3461V|TRRAP_uc003ups.3_5'Flank NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3755 PI3K/PI4K. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGATTGCGGTCGCCCGGTGCT 0.607000 38 13 0 0 0.002450 0 0 CDH18 1016 broad.mit.edu 37 5 19721469 19721469 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:19721469G>A uc003jgd.3 - 4 1164 c.630C>T c.(628-630)gtC>gtT p.V210V CDH18_uc011cnm.2_Silent_p.V210V|CDH18_uc003jgc.3_Silent_p.V210V|CDH18_uc021xwu.1_Silent_p.V210V NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 210 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V210I(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTTTAGGGTCGACGGAGAAGT 0.453000 67 10 0 0 0.000978 0 0 TSSK4 283629 broad.mit.edu 37 14 24675720 24675720 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr14:24675720G>A uc001wnh.3 + 1 435 c.231G>A c.(229-231)atG>atA p.M77I TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Missense_Mutation_p.M1I|TSSK4_uc001wnf.3_5'UTR|TSSK4_uc001wng.3_Missense_Mutation_p.M77I NM_001184739 NP_001171668 Q6SA08 TSSK4_HUMAN Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA. 77 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) GTCAGGTAATGAAAGTCTTGC 0.517000 32 6 0 0 0.001984 0 0 FRMPD1 22844 broad.mit.edu 37 9 37707446 37707446 + Silent SNP G A A rs112589819 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr9:37707446G>A uc004aag.1 + 2 179 c.135G>A c.(133-135)agG>agA p.R45R FRMPD1_uc004aah.1_Silent_p.R45R NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA. 45 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GGCCCGCCAGGAACCCAACTC 0.498000 31 17 0 0 0.001882 0 0 BTNL9 153579 broad.mit.edu 37 5 180477129 180477129 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:180477129G>A uc003mmt.3 + 3 727 c.496G>A c.(496-498)Gaa>Aaa p.E166K BTNL9_uc011dhi.1_Missense_Mutation_p.E97K NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN Homo sapiens butyrophilin-like 9 (BTNL9), mRNA. 166 integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGCTTCAAGGAAGGAGGCAT 0.572000 39 5 0 0 0.000602 0 0 TRHR 7201 broad.mit.edu 37 8 110099745 110099745 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:110099745G>A uc003ymz.4 + 0 93 c.4G>A c.(4-6)Gaa>Aaa p.E2K NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 2 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TCTAAAGATGGAAAACGAGAC 0.458000 24 4 0 0 0.000248 0 0 IFI16 3428 broad.mit.edu 37 1 158988354 158988354 + Silent SNP C T T rs149200088 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:158988354C>T uc001ftg.3 + 4 1175 c.885C>T c.(883-885)atC>atT p.I295I IFI16_uc010pis.2_Silent_p.I239I|IFI16_uc010pit.2_Silent_p.I295I|IFI16_uc001ftf.1_Silent_p.I295I NM_005531 NP_005522 Q16666 IF16_HUMAN Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA. 295 HIN-200 1. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) ATAAAATCATCAACAGAGCAA 0.353000 36 14 0 0 0.002450 0 0 PKHD1 5314 broad.mit.edu 37 6 51889856 51889856 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:51889856G>A uc003pah.1 - 31 5028 c.4752C>T c.(4750-4752)agC>agT p.S1584S PKHD1_uc003pai.3_Silent_p.S1584S NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1584 IPT/TIG 11. S -> I (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CACCATGTAAGCTGAAATTCT 0.438000 30 12 0 0 0.001368 0 0 HECW1 23072 broad.mit.edu 37 7 43351401 43351401 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:43351401G>A uc003tid.1 + 3 672 c.67G>A c.(67-69)Gcg>Acg p.A23T HECW1_uc011kbi.1_Missense_Mutation_p.A23T|HECW1_uc003tie.1_Missense_Mutation_p.A55T NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 23 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GGCCGCCATGGCGTCTCCTTC 0.597000 93 14 0 0 0.004007 0 0 DSCAM 1826 broad.mit.edu 37 21 42080554 42080554 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr21:42080554C>T uc002yyq.1 - 1 639 c.187G>A c.(187-189)Ggc>Agc p.G63S DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 63 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.T62M(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATCTCCTCGCCCGTGGCTAGG 0.587000 55 15 0 0 0.004990 0 0 RAG2 5897 broad.mit.edu 37 11 36614379 36614379 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:36614379G>A uc021qge.1 - 0 1340 c.1340C>T c.(1339-1341)tCt>tTt p.S447F RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.S447F|RAG2_uc021qgd.1_Missense_Mutation_p.S447F|RAG2_uc001mwv.4_Missense_Mutation_p.S447F|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank NM_001243786 NP_001230715 P55895 RAG2_HUMAN Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA. 447 T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins nucleus DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) ATCCCCATGAGAGCAGTAGAT 0.493000 Familial Hemophagocytic Lymphohistiocytosis 30 7 0 0 0.004482 0 0 abParts 0 broad.mit.edu 37 14 106967191 106967191 + RNA SNP A T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr14:106967191A>T uc021ser.1 - 263 c.10309T>A Parts of antibodies, mostly variable regions. ACTAGGGTTGATTATTCCCAT 0.547000 45 12 0 0 0.001368 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140183169 140183169 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:140183169C>T uc003lhf.2 + 0 2387 c.2387C>T c.(2386-2388)tCa>tTa p.S796L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S796L NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 771 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGATCTCTCAGCCAAAGTG 0.413000 26 7 0 0 0.001984 0 0 ZNF684 127396 broad.mit.edu 37 1 41012390 41012390 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:41012390C>T uc001cft.2 + 4 646 c.395C>T c.(394-396)tCa>tTa p.S132L NM_152373 NP_689586 Q5T5D7 ZN684_HUMAN Homo sapiens zinc finger protein 684 (ZNF684), mRNA. 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) AGAAAAAAATCATATAAATCG 0.313000 31 11 0 0 0.001368 0 0 NBEAL1 65065 broad.mit.edu 37 2 204030954 204030954 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:204030954C>T uc002uzt.3 + 35 6043 c.5710C>T c.(5710-5712)Cct>Tct p.P1904S NBEAL1_uc021vvj.1_Missense_Mutation_p.P607S NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 1904 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGATGTAATTCCTGGCAGATT 0.333000 222 105 0 0 0.003610 0 0 LAMC1 3915 broad.mit.edu 37 1 183087213 183087213 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:183087213C>T uc001gpy.4 + 10 2179 c.1922C>T c.(1921-1923)cCt>cTt p.P641L NM_002293 NP_002284 P11047 LAMC1_HUMAN Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA. 641 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.P641L(2)|p.P641P(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCTTACCCCTTTTGAATTT 0.423000 86 33 0 0 0.002445 0 0 CSMD1 64478 broad.mit.edu 37 8 3141843 3141843 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:3141843C>T uc022aqr.1 - 25 4366 c.3976G>A c.(3976-3978)Gag>Aag p.E1326K CSMD1_uc011kwj.2_Missense_Mutation_p.E719K|CSMD1_uc003wqe.3_Missense_Mutation_p.E483K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1327 CUB 8. 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) TGAGCCATCTCCGTGTCGAAA 0.557000 OREG0018505 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 5 0 0 0.001984 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407689 1407689 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:1407689C>T uc010nct.2 + 6 703 c.381C>T c.(379-381)ttC>ttT p.F127F CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.F127F|CSF2RA_uc004cpq.2_Silent_p.F127F|CSF2RA_uc004cpn.2_Silent_p.F127F|CSF2RA_uc004cpo.2_Silent_p.F127F|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.F127F|CSF2RA_uc010ncv.2_Silent_p.F127F|CSF2RA_uc004cpr.2_Silent_p.F127F NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 127 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TCTCCTGTTTCATCTACAATG 0.463000 158 13 0 0 0.003163 0 0 ZNF43 7594 broad.mit.edu 37 19 21992551 21992551 + Missense_Mutation SNP G T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:21992551G>T uc002nqj.3 - 3 418 c.288C>A c.(286-288)ttC>ttA p.F96L ZNF43_uc002nql.3_Missense_Mutation_p.F90L|ZNF43_uc002nqm.3_Missense_Mutation_p.F90L|ZNF43_uc010ecv.3_Missense_Mutation_p.F90L|ZNF43_uc002nqk.3_Missense_Mutation_p.F26L NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TCGCTTTTTGGAAAGGATCTT 0.328000 71 8 7.48243e-07 3.78949e-06 0.000443 1 0 ZIM3 114026 broad.mit.edu 37 19 57646552 57646552 + Missense_Mutation SNP G A A rs150510557 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:57646552G>A uc002qnz.1 - 4 1539 c.1153C>T c.(1153-1155)Cat>Tat p.H385Y NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H385Y(2) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCCCAGTATGGATTTTTTTA 0.393000 94 16 0 0 0.003163 0 0 NBPF3 84224 broad.mit.edu 37 1 21799391 21799391 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:21799391G>A uc001ber.3 + 5 1067 c.717G>A c.(715-717)caG>caA p.Q239Q NBPF3_uc001bes.3_Silent_p.Q183Q|NBPF3_uc009vqb.3_Silent_p.Q239Q|NBPF3_uc010odm.2_Silent_p.Q169Q NM_032264 NP_115640 Q9H094 NBPF3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA. 239 NBPF 1. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGAAAGTACAGGAATTATATG 0.413000 30 7 0 0 0.003080 0 0 OR10S1 219873 broad.mit.edu 37 11 123847810 123847811 + Missense_Mutation DNP GG AA AA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:123847810_123847811GG>AA uc001pzm.1 - 0 588_589 c.588_589CC>TT c.(586-591)ccccct>ccTTct p.P197S NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA. 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTTAGGACAGGGGGTATGTCGC 0.564000 26 4 0 0 0.004672 0 0 TLR3 7098 broad.mit.edu 37 4 187004921 187004921 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr4:187004921C>T uc003iyq.3 + 3 2182 c.2081C>T c.(2080-2082)tCa>tTa p.S694L TLR3_uc011ckz.2_Missense_Mutation_p.S417L|TLR3_uc003iyr.3_Missense_Mutation_p.S417L NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 694 LRRCT. I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|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-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TTTGATACATCATCTTGCAAA 0.423000 124 25 0 0 0.001061 0 0 PRAME 23532 broad.mit.edu 37 22 22892369 22892369 + Nonsense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr22:22892369C>T uc002zwf.3 - 3 888 c.732G>A c.(730-732)tgG>tgA p.W244* abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Nonsense_Mutation_p.W228*|PRAME_uc010gtr.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwg.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwh.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwi.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwj.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwk.3_Nonsense_Mutation_p.W244* NM_206956 NP_996839 P78395 PRAME_HUMAN Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA. 244 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding p.W244*(1) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TGGGTAGCTTCCAGGTACAAG 0.458000 37 6 0 0 0.001168 0 0 GRM3 2913 broad.mit.edu 37 7 86416341 86416341 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:86416341C>T uc003uid.3 + 2 2332 c.1233C>T c.(1231-1233)ctC>ctT p.L411L GRM3_uc010lef.3_Silent_p.L409L|GRM3_uc010leg.3_Silent_p.L283L|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 411 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGCGCACCCTCTGTCCCAACA 0.488000 96 35 0 0 0.004878 0 0 LPIN1 23175 broad.mit.edu 37 2 11905715 11905715 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:11905715G>A uc010yjm.2 + 2 248 c.195G>A c.(193-195)aaG>aaA p.K65K LPIN1_uc010yjn.2_Silent_p.K16K|LPIN1_uc002rbt.3_Silent_p.K16K|LPIN1_uc002rbs.3_Silent_p.K16K|LPIN1_uc010exi.1_Non-coding_Transcript NM_145693 NP_663731 Q14693 LPIN1_HUMAN Homo sapiens lipin 1 (LPIN1), mRNA. 16 N-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) TCACCGTGAAGGAGCTCTACA 0.507000 36 20 0 0 0.002780 0 0 ACSL5 51703 broad.mit.edu 37 10 114169274 114169274 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr10:114169274C>T uc001kzu.3 + 6 822 c.710C>T c.(709-711)gCc>gTc p.A237V ACSL5_uc001kzs.3_Missense_Mutation_p.A181V|ACSL5_uc001kzt.3_Missense_Mutation_p.A181V|ACSL5_uc009xxz.3_Missense_Mutation_p.A181V|ACSL5_uc010qrj.2_5'UTR NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 181 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) GCTGATATCGCCATGGTGATC 0.473000 72 13 0 0 0.003163 0 0 TNS4 84951 broad.mit.edu 37 17 38638427 38638427 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:38638427G>A uc010cxb.3 - 7 1790 c.1626C>T c.(1624-1626)tcC>tcT p.S542S TNS4_uc002huu.4_5'Flank NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN Homo sapiens tensin 4 (TNS4), mRNA. 542 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GGGCCATGATGGAATGCTGGC 0.597000 25 10 0 0 0.001855 0 0 MCM3AP 8888 broad.mit.edu 37 21 47700421 47700421 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr21:47700421C>T uc002zir.1 - 2 1548 c.1512G>A c.(1510-1512)agG>agA p.R504R NM_003906 NP_003897 O60318 MCM3A_HUMAN Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA. 504 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TTATTTTCTTCCTGTGCCAAA 0.368000 53 11 0 0 0.000978 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918076 51918076 + Splice_Site SNP A G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:51918076A>G uc002pwo.3 - 8 1837 c.1615_splice c.e8+1 p.D539_splice SIGLEC10_uc002pwp.3_Splice_Site_p.D481_splice|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_5'Flank NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 539 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CGGCCCCCTAACCTGGCAGCT 0.637000 55 15 0 0 0.006122 0 0 RASA2 5922 broad.mit.edu 37 3 141272772 141272772 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:141272772G>A uc010huq.1 + 5 601 c.601G>A c.(601-603)Ggc>Agc p.G201S RASA2_uc003etz.1_Missense_Mutation_p.G201S|RASA2_uc003eua.1_Missense_Mutation_p.G201S|RASA2_uc011bnc.1_5'UTR NM_006506 NP_006497 Q15283 RASA2_HUMAN Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA. 201 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm Ras GTPase activator activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 TTCTCTAGTGGGCCCTTCTAG 0.323000 90 9 0 0 0.000443 0 0 FAM186B 84070 broad.mit.edu 37 12 49982310 49982310 + Missense_Mutation SNP G A A rs149783745 by1000genomes TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:49982310G>A uc001ruo.3 - 5 2634 c.2461C>T c.(2461-2463)Cgc>Tgc p.R821C FAM186B_uc010smk.2_Missense_Mutation_p.R731C NM_032130 NP_115506 Q8IYM0 F186B_HUMAN Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA. 821 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCACTGGGGCGGATGTGCCGG 0.617000 69 11 0 0 0.000978 0 0 CCDC67 159989 broad.mit.edu 37 11 93097393 93097393 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:93097393G>A uc001pdq.3 + 4 465 c.365G>A c.(364-366)cGa>cAa p.R122Q CCDC67_uc001pdo.1_Missense_Mutation_p.R122Q|CCDC67_uc001pdp.3_Missense_Mutation_p.R122Q NM_181645 NP_857596 Q05D60 CCD67_HUMAN Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA. 122 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AAAGTTCCACGAAAAGAATTA 0.294000 36 6 0 0 0.001168 0 0 CRNN 49860 broad.mit.edu 37 1 152382619 152382619 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:152382619G>A uc001ezx.2 - 2 1013 c.939C>T c.(937-939)acC>acT p.T313T NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 313 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGGGTGCTGGTGCTTCCTG 0.607000 155 10 0 0 0.000673 0 0 ATP13A2 23400 broad.mit.edu 37 1 17322554 17322554 + Nonsense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:17322554G>A uc001baa.2 - 14 1649 c.1459C>T c.(1459-1461)Cga>Tga p.R487* ATP13A2_uc001bac.2_Nonsense_Mutation_p.R482*|ATP13A2_uc001bab.2_Nonsense_Mutation_p.R482*|ATP13A2_uc009vpa.1_Nonsense_Mutation_p.R163*|ATP13A2_uc001bad.1_Nonsense_Mutation_p.R200* NM_022089 NP_071372 Q9NQ11 AT132_HUMAN Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA. 487 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CTCCGCAGTCGGCTCTGGGCG 0.622000 46 6 0 0 0.001984 0 0 CD163 9332 broad.mit.edu 37 12 7649678 7649678 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:7649678C>T uc001qsz.3 - 4 958 c.830G>A c.(829-831)gGa>gAa p.G277E CD163_uc001qta.3_Missense_Mutation_p.G277E|CD163_uc009zfw.2_Missense_Mutation_p.G277E NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 277 SRCR 3. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TTCTAATCTTCCTGAACATTC 0.488000 62 9 0 0 0.000673 0 0 LRIG3 121227 broad.mit.edu 37 12 59307766 59307766 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:59307766G>A uc001sqr.3 - 2 626 c.380C>T c.(379-381)tCc>tTc p.S127F LRIG3_uc009zqh.3_Missense_Mutation_p.S67F|LRIG3_uc010ssh.2_Non-coding_Transcript NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA. 127 integral to membrane p.L126I(1) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CACTTACAAGGAGAGAAGTGT 0.378000 T ROS1 NSCLC 46 7 0 0 0.004482 0 0 PCDHB17 54661 broad.mit.edu 37 5 140536960 140536960 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:140536960C>T uc003lis.3 + 0 1381 c.1381C>T c.(1381-1383)Cgc>Tgc p.R461C Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA. CCTGTTCGTCCGCGAGAACAA 0.617000 55 5 0 0 0.000602 0 0 GPR98 84059 broad.mit.edu 37 5 89992796 89992796 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:89992796C>T uc003kju.3 + 33 8084 c.7988C>T c.(7987-7989)tCt>tTt p.S2663F GPR98_uc003kjt.3_Missense_Mutation_p.S369F|GPR98_uc003kjv.3_Missense_Mutation_p.S263F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2663 Calx-beta 18. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGGATGACTCTGAACCAGAG 0.368000 37 5 0 0 0.000602 0 0 HNF4G 3174 broad.mit.edu 37 8 76472605 76472605 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:76472605C>T uc003yaq.3 + 9 1279 c.1009C>T c.(1009-1011)Cat>Tat p.H337Y HNF4G_uc003yar.3_Missense_Mutation_p.H374Y NM_004133 NP_004124 Q14541 HNF4G_HUMAN Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA. 337 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) CAGTCATCTCCATCATCCAAT 0.388000 15 5 0 0 0.000602 0 0 SPATA2 9825 broad.mit.edu 37 20 48522808 48522808 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr20:48522808G>A uc010gie.3 - 2 1261 c.911C>T c.(910-912)tCc>tTc p.S304F SPATA2_uc002xuw.3_Missense_Mutation_p.S304F|SPATA2_uc010zyn.2_Missense_Mutation_p.S167F NM_001135773 NP_006029 Q9UM82 SPAT2_HUMAN Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA. 304 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) GCCGTGGGGGGAGCTGGCCAT 0.642000 47 13 0 0 0.001855 0 0 CLPB 81570 broad.mit.edu 37 11 72040825 72040825 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:72040825C>T uc001osj.3 - 6 939 c.889G>A c.(889-891)Gaa>Aaa p.E297K CLPB_uc010rqx.2_Missense_Mutation_p.E252K|CLPB_uc010rqy.2_Missense_Mutation_p.E238K|CLPB_uc001osk.3_Missense_Mutation_p.E267K|CLPB_uc010rqz.2_Missense_Mutation_p.E96K NM_030813 NP_110440 Q9H078 CLPB_HUMAN Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA. 297 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TGTCCCATTTCATTCCTCTGC 0.532000 172 19 0 0 0.000958 0 0 MYH2 4620 broad.mit.edu 37 17 10432922 10432922 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:10432922G>A uc010coi.3 - 23 3204 c.3076C>T c.(3076-3078)Ctg>Ttg p.L1026L AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.L1026L|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1026 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCTTTGGTCAGGGTGTTGACT 0.458000 98 12 0 0 0.001855 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000349 16000349 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:16000349C>T uc002nbs.1 - 6 852 c.802G>A c.(802-804)Gat>Aat p.D268N CYP4F2_uc010xot.1_Missense_Mutation_p.D119N|CYP4F2_uc010xou.1_Missense_Mutation_p.D119N NM_001082 NP_001073 P78329 CP4F2_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA. 268 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 ATGACGGCATCTGTGAAGTCG 0.552000 60 10 0 0 0.000443 0 0 CD19 930 broad.mit.edu 37 16 28944626 28944626 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr16:28944626C>T uc010byo.2 + 3 693 c.631C>T c.(631-633)Ccc>Tcc p.P211S NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P211S NM_001178098 NP_001171569 P15391 CD19_HUMAN Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA. 211 Ig-like C2-type 2. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 GTCCAGGGGCCCCCTCTCCTG 0.602000 12 5 0 0 0.001168 0 0 ZNF354C 30832 broad.mit.edu 37 5 178506357 178506357 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:178506357C>T uc003mju.3 + 4 1039 c.924C>T c.(922-924)gcC>gcT p.A308A NM_014594 NP_055409 Q86Y25 Z354C_HUMAN Homo sapiens zinc finger protein 354C (ZNF354C), mRNA. 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GTGGTAAAGCCTTTAGCCAGT 0.428000 81 14 0 0 0.004007 0 0 ARRDC5 645432 broad.mit.edu 37 19 4902816 4902816 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:4902816C>T uc002mbm.3 - 0 64 c.64G>A c.(64-66)Gaa>Aaa p.E22K NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA. 22 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) AGCACTAATTCGATCGACTTC 0.547000 34 6 0 0 0.001168 0 0 KIAA1324 57535 broad.mit.edu 37 1 109731788 109731788 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:109731788G>A uc021orb.1 + 9 1541 c.1320G>A c.(1318-1320)ggG>ggA p.G440G KIAA1324_uc009wex.2_Silent_p.G390G|KIAA1324_uc010ovg.2_Silent_p.G338G|KIAA1324_uc009wey.3_Silent_p.G353G|KIAA1324_uc001dwr.3_Silent_p.G90G NM_020775 NP_065826 Q6UXG2 K1324_HUMAN Homo sapiens KIAA1324 (KIAA1324), mRNA. 440 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) TTCTCAGTGGGATCAACTTCG 0.522000 30 10 0 0 0.000443 0 0 GABRR3 200959 broad.mit.edu 37 3 97744447 97744447 + RNA SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:97744447C>T uc021xbo.1 - 2 c.319G>A GABRR3_uc021xbp.1_Non-coding_Transcript NM_001105580 A8MPY1 GBRR3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA. gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity large_intestine(2)|lung(1) 3 TCGTTGTCCTCTATATGGAGA 0.398000 38 10 0 0 0.000673 0 0 FBXO18 84893 broad.mit.edu 37 10 5958258 5958258 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr10:5958258C>T uc001iit.3 + 10 1884 c.1780C>T c.(1780-1782)Ctt>Ttt p.L594F FBXO18_uc001iir.3_Missense_Mutation_p.L469F|FBXO18_uc001iis.3_Missense_Mutation_p.L543F|FBXO18_uc009xig.3_Missense_Mutation_p.L469F NM_032807 NP_835363 Q8NFZ0 FBX18_HUMAN Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA. 543 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 CAACTCCGTCCTTGCTGAAGG 0.473000 48 7 0 0 0.003080 0 0 CLK3 1198 broad.mit.edu 37 15 74922068 74922068 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:74922068C>T uc010uln.2 + 12 2222 c.1761C>T c.(1759-1761)tcC>tcT p.S587S CLK3_uc002ayg.4_Silent_p.S439S|CLK3_uc002ayh.4_Silent_p.S218S|CLK3_uc002ayj.4_Silent_p.S416S|CLK3_uc002ayk.4_Silent_p.S366S|CLK3_uc002ayl.4_Silent_p.S272S NM_001130028 NP_003983 P49761 CLK3_HUMAN Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA. 587 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 TCCAAGACTCCCTGGAGCACG 0.602000 8 5 0 0 0.003080 0 0 PIEZO2 63895 broad.mit.edu 37 18 10677820 10677820 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr18:10677820G>A uc002kos.2 - 48 7840 c.7666C>T c.(7666-7668)Cct>Tct p.P2556S PIEZO2_uc002koq.3_Missense_Mutation_p.P348S NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA. 2556 integral to membrane ion channel activity TTTTTAAGAGGAAAAGAAAGC 0.323000 33 4 0 0 0.000602 0 0 CEACAM18 729767 broad.mit.edu 37 19 51981873 51981873 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:51981873C>T uc002pwv.1 + 1 160 c.160C>T c.(160-162)Ctc>Ttc p.L54F NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 54 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GGGACCCCTCCTCCTGGAGGA 0.622000 16 5 0 0 0.001168 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171244 150171244 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:150171244G>A uc003whj.3 + 3 1157 c.827G>A c.(826-828)gGa>gAa p.G276E NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 276 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TTTCAGACCGGATTTAGTGAG 0.502000 79 11 0 0 0.000978 0 0 MYH9 4627 broad.mit.edu 37 22 36702008 36702008 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr22:36702008G>A uc003apg.3 - 16 2358 c.2127C>T c.(2125-2127)ccC>ccT p.P709P MYH9_uc003aph.1_Silent_p.P573P NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 709 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCACCCTGTTGGGGAAGCCCT 0.662000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 64 10 0 0 0.000673 0 0 ZNF442 79973 broad.mit.edu 37 19 12462032 12462032 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:12462032C>T uc002mtr.1 - 5 978 c.367G>A c.(367-369)Gaa>Aaa p.E123K ZNF442_uc010xmk.1_Missense_Mutation_p.E54K NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN Homo sapiens zinc finger protein 442 (ZNF442), mRNA. 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 CCCATGATTTCTCCACACACA 0.398000 60 19 0 0 0.001216 0 0 GIP 2695 broad.mit.edu 37 17 47044539 47044539 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:47044539C>T uc002iol.1 - 1 154 c.56G>A c.(55-57)gGa>gAa p.G19E NM_004123 NP_004114 P09681 GIP_HUMAN Homo sapiens gastric inhibitory polypeptide (GIP), mRNA. 19 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity lung(2)|skin(1)|stomach(1) 4 CTCTCCTAGTCCCACTGCCAG 0.522000 58 9 0 0 0.000978 0 0 VARS2 57176 broad.mit.edu 37 6 30892296 30892296 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:30892296C>T uc011dmz.2 + 25 2803 c.2722C>T c.(2722-2724)Ccc>Tcc p.P908S VARS2_uc003nsc.2_Missense_Mutation_p.P878S|VARS2_uc011dmx.2_Missense_Mutation_p.P878S|VARS2_uc011dmy.2_Missense_Mutation_p.P738S|VARS2_uc011dna.2_Missense_Mutation_p.P876S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.P316S|VARS2_uc010jsg.2_Missense_Mutation_p.P250S|VARS2_uc010jsh.2_Missense_Mutation_p.P22S NM_001167734 NP_001161205 Q5ST30 SYVM_HUMAN Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA. 878 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 CCCCCCTGCCCCCAGCATCTC 0.677000 28 11 0 0 0.001368 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736019 12736019 + Missense_Mutation SNP G C C TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:12736019G>C uc004cuz.2 + 15 3580 c.3074G>C c.(3073-3075)aGc>aCc p.S1025T FRMPD4_uc011mij.2_Missense_Mutation_p.S1017T NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA. 1025 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TCCTGCACTAGCAAAAGGAAA 0.512000 49 4 0 0 0.000602 0 0 ADAM21 8747 broad.mit.edu 37 14 70925048 70925048 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr14:70925048G>A uc021rvq.1 + 0 832 c.832G>A c.(832-834)Gat>Aat p.D278N ADAM21_uc001xmd.3_Missense_Mutation_p.D278N NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 278 Peptidase M12B. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGTCCTGAACGATTTCTCTCA 0.353000 39 6 0 0 0.001168 0 0 abParts 0 broad.mit.edu 37 22 22677061 22677061 + RNA SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr22:22677061C>T uc021wml.1 + 37 c.3686C>T abParts_uc011aiq.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. CCCTCAGTGTCTGCGGCCCCA 0.562000 46 7 0 0 0.001984 0 0 CASC3 22794 broad.mit.edu 37 17 38325652 38325653 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:38325652_38325653CC>TT uc010cwt.1 + 11 2336_2337 c.2041_2042CC>TT c.(2041-2043)ccc>TTc p.P681F CASC3_uc002hue.3_Missense_Mutation_p.P681F NM_007359 NP_031385 O15234 CASC3_HUMAN Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA. 681 Necessary for localization in cytoplasmic stress granules. RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm RNA binding|identical protein binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 GCCCTCCCCACCCCGGAGGACT 0.589000 39 9 0 0 0.004672 0 0 GDPD5 81544 broad.mit.edu 37 11 75146615 75146615 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:75146615G>A uc001owo.4 - 17 2292 c.1755C>T c.(1753-1755)acC>acT p.T585T GDPD5_uc001owp.4_Silent_p.T585T|GDPD5_uc001own.4_Silent_p.T340T|GDPD5_uc009yuc.3_Silent_p.T447T|GDPD5_uc009yud.3_Silent_p.T466T NM_030792 NP_110419 Q8WTR4 GDPD5_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA. 585 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 GGCCCACAGGGGTGGCGGTGC 0.582000 30 5 0 0 0.000602 0 0 CCDC83 220047 broad.mit.edu 37 11 85627214 85627214 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:85627214G>A uc001pbg.1 + 10 1623 c.1111G>A c.(1111-1113)Ggc>Agc p.G371S CCDC83_uc001pbh.1_Missense_Mutation_p.G340S|CCDC83_uc001pbj.1_Missense_Mutation_p.G240S|CCDC83_uc001pbi.1_Non-coding_Transcript NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA. 340 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) GGAAAACTCAGGCACAGAGTT 0.368000 95 19 0 0 0.006122 0 0 ESPNP 284729 broad.mit.edu 37 1 17023143 17023143 + Missense_Mutation SNP C T T rs559507 by1000genomes TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:17023143C>T uc001azn.1 - 9 1721 c.1607G>A c.(1606-1608)cGg>cAg p.R536Q Homo sapiens espin pseudogene (ESPNP), non-coding RNA. TGTGGGGCTCCGGACTGGTAA 0.692000 9 3 0 0 0.004672 0 0 ZNF676 163223 broad.mit.edu 37 19 22362861 22362861 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:22362861C>T uc002nqs.1 - 2 1976 c.1658G>A c.(1657-1659)aGa>aAa p.R553K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R553I(2) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AGTATGAATTCTCTTGTGTCT 0.378000 29 4 0 0 0.000248 0 0 DNAJC25 548645 broad.mit.edu 37 9 114411966 114411966 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr9:114411966C>T uc004bfl.3 + 2 779 c.723C>T c.(721-723)atC>atT p.I241I DNAJC25_uc004bfn.3_Intron|DNAJC25_uc004bfm.3_Silent_p.I119I NM_001015882 NP_001015882 Q9H1X3 DJC25_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA. 241 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 AACCCCAAATCTGTGATCTTC 0.343000 24 13 0 0 0.002450 0 0 ZNF85 7639 broad.mit.edu 37 19 21131852 21131852 + Missense_Mutation SNP A G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:21131852A>G uc002npg.4 + 3 680 c.532A>G c.(532-534)Aaa>Gaa p.K178E ZNF85_uc010ecn.3_Missense_Mutation_p.K113E|ZNF85_uc010eco.3_Missense_Mutation_p.K126E|ZNF85_uc002npi.3_Missense_Mutation_p.K119E NM_003429 NP_003420 Q03923 ZNF85_HUMAN Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA. 178 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 CAAATGTACAAAATGTGGCAA 0.294000 53 13 0 0 0.001368 0 0 CBLC 23624 broad.mit.edu 37 19 45297477 45297477 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:45297477C>T uc002ozs.3 + 8 1364 c.1301C>T c.(1300-1302)cCt>cTt p.P434L CBLC_uc010ejt.3_Missense_Mutation_p.P388L NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA. 434 cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CTTTCGGCTCCTCCATTGCCC 0.627000 M AML 99 18 0 0 0.001882 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103404735 103404735 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr14:103404735G>A uc001ymi.1 - 34 5073 c.4841C>T c.(4840-4842)cCc>cTc p.P1614L NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA. 1614 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CTCCTGGGAGGGGGGCACAGC 0.637000 28 8 0 0 0.000443 0 0 MUC16 94025 broad.mit.edu 37 19 9084753 9084753 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:9084753G>A uc002mkp.3 - 0 7266 c.7062C>T c.(7060-7062)atC>atT p.I2354I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2354 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.D2353Y(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGCGTCAAGGATATCTGAGG 0.438000 22 6 0 0 0.001168 0 0 VARS 7407 broad.mit.edu 37 6 31760052 31760052 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:31760052C>T uc003nxe.3 - 5 1236 c.813G>A c.(811-813)gaG>gaA p.E271E VARS_uc011doi.1_Non-coding_Transcript NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 271 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity p.R270M(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GATCCCGTTTCTCCCTCTTCT 0.562000 144 28 0 0 0.004289 0 0 OR4C12 283093 broad.mit.edu 37 11 50004008 50004008 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:50004008G>A uc010ria.2 - 0 64 c.30C>T c.(28-30)ttC>ttT p.F10F NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA. 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E9K(1) NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 CTATTAAAATGAATTCAGTCA 0.343000 25 6 0 0 0.001984 0 0 DSCAM 1826 broad.mit.edu 37 21 41559849 41559849 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr21:41559849C>T uc002yyq.1 - 12 3071 c.2619G>A c.(2617-2619)gaG>gaA p.E873E DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 873 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E873*(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTCCACGGTCCTCCCCATAAG 0.413000 35 8 0 0 0.003080 0 0 CDH18 1016 broad.mit.edu 37 5 19503173 19503173 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:19503173C>T uc003jgd.3 - 10 2092 c.1558G>A c.(1558-1560)Gga>Aga p.G520R CDH18_uc011cnm.2_Missense_Mutation_p.G520R|CDH18_uc003jgc.3_Missense_Mutation_p.G520R|CDH18_uc021xwu.1_Missense_Mutation_p.G520R NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 520 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AACCTTGGTCCATTGGCAAAA 0.333000 34 5 0 0 0.001168 0 0 GABRG1 2565 broad.mit.edu 37 4 46060533 46060533 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr4:46060533C>T uc003gxb.3 - 5 884 c.732G>A c.(730-732)cgG>cgA p.R244R NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 244 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.R244R(1)|p.R244W(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CAGTTGAGTTCCGTAACCCTA 0.333000 30 9 0 0 0.000673 0 0 OR5A1 219982 broad.mit.edu 37 11 59211055 59211055 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:59211055C>T uc001nnx.1 + 0 414 c.414C>T c.(412-414)atC>atT p.I138I NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA. 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 ACCCCACTATCATGACCCAGG 0.542000 127 14 0 0 0.003163 0 0 MAST1 22983 broad.mit.edu 37 19 12975902 12975902 + Silent SNP C T T rs149802603 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:12975902C>T uc002mvm.3 + 13 1676 c.1548C>T c.(1546-1548)ttC>ttT p.F516F NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 516 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCACAGATTTCGGCCTCTCCA 0.567000 46 6 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9047542 9047542 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:9047542C>T uc002mkp.3 - 4 34293 c.34089G>A c.(34087-34089)agG>agA p.R11363R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11365 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGGGGTTGTCCTGGGAACTG 0.488000 132 27 0 0 0.002096 0 0 TNS3 64759 broad.mit.edu 37 7 47333376 47333376 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:47333376G>A uc003tnw.3 - 24 4085 c.3727C>T c.(3727-3729)Ccg>Tcg p.P1243S TNS3_uc022acn.1_Missense_Mutation_p.P800S NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN Homo sapiens tensin 3 (TNS3), mRNA. 1243 SH2. focal adhesion protein binding p.P1243Q(1) NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 ACTCCCTTCGGGGTACACTCG 0.458000 64 19 0 0 0.001882 0 0 CYP24A1 1591 broad.mit.edu 37 20 52775632 52775632 + Missense_Mutation SNP T A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr20:52775632T>A uc002xwv.2 - 7 1419 c.1021A>T c.(1021-1023)Aat>Tat p.N341Y CYP24A1_uc002xwu.1_Missense_Mutation_p.N199Y|CYP24A1_uc002xww.2_Missense_Mutation_p.N341Y NM_000782 NP_000773 Q07973 CP24A_HUMAN Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 341 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CGGGATAAATTGTAGAGAATC 0.368000 55 16 0 0 0.000958 0 0 OR2M5 127059 broad.mit.edu 37 1 248309207 248309207 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:248309207G>A uc010pze.2 + 0 758 c.758G>A c.(757-759)gGa>gAa p.G253E NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATGTACTATGGAGCAGGTTTG 0.498000 78 39 0 0 0.001951 0 0 KCTD3 51133 broad.mit.edu 37 1 215777580 215777580 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:215777580G>A uc001hks.3 + 12 1539 c.1245G>A c.(1243-1245)caG>caA p.Q415Q KCTD3_uc001hkt.3_Silent_p.Q415Q|KCTD3_uc010pub.2_Silent_p.Q313Q|KCTD3_uc009xdn.3_Silent_p.Q167Q NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA. 415 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) AGCTTTTTCAGACTTTCACAG 0.448000 46 27 0 0 0.001061 0 0 UTRN 7402 broad.mit.edu 37 6 144811240 144811240 + Missense_Mutation SNP A G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:144811240A>G uc003qkt.3 + 29 4260 c.4168A>G c.(4168-4170)Acc>Gcc p.T1390A NM_007124 NP_009055 P46939 UTRO_HUMAN Homo sapiens utrophin (UTRN), mRNA. 1390 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCATGAGCTAACCCTAGAGGA 0.433000 60 23 0 0 0.002780 0 0 MAP4K2 5871 broad.mit.edu 37 11 64567806 64567806 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:64567806G>A uc001obh.3 - 10 876 c.784C>T c.(784-786)Ccg>Tcg p.P262S MAP4K2_uc001obi.3_Missense_Mutation_p.P262S NM_004579 NP_004570 Q12851 M4K2_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA. 262 Protein kinase. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting Golgi membrane|basolateral plasma membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 TCTGCTGTCGGCCTCTTCTTA 0.602000 51 7 0 0 0.004482 0 0 C6orf222 389384 broad.mit.edu 37 6 36291299 36291299 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:36291299G>A uc003oly.3 - 7 1420 c.1242C>T c.(1240-1242)gtC>gtT p.V414V NM_001010903 NP_001010903 P0C671 CF222_HUMAN Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA. 414 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CTTCCTGCTGGACTTGAGGTT 0.537000 64 17 0 0 0.000958 0 0 SHANK1 50944 broad.mit.edu 37 19 51165351 51165351 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:51165351G>A uc002psx.1 - 22 6376 c.6357C>T c.(6355-6357)ttC>ttT p.F2119F SHANK1_uc002psw.1_Silent_p.F1503F NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA. 2119 SAM. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CGTGGTCCAGGAACTGGGCTC 0.617000 29 9 0 0 0.000673 0 0 RIMBP2 23504 broad.mit.edu 37 12 130919306 130919306 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:130919306G>A uc001uil.2 - 10 2391 c.2175C>T c.(2173-2175)ttC>ttT p.F725F RIMBP2_uc001uim.3_Silent_p.F633F NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 725 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGCCTTTCAGGAAGTCGTCCA 0.657000 80 11 0 0 0.000978 0 0 TYRP1 7306 broad.mit.edu 37 9 12695539 12695539 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr9:12695539G>A uc003zkv.4 + 2 588 c.410G>A c.(409-411)aGt>aAt p.S137N NM_000550 NP_000541 P17643 TYRP1_HUMAN Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA. 137 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) CTGGACTTAAGTAAAGAAGAA 0.428000 Oculocutaneous Albinism 29 5 0 0 0.003080 0 0 TMEM18 129787 broad.mit.edu 37 2 669634 669634 + Silent SNP C A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:669634C>A uc002qwl.3 - 4 463 c.369G>T c.(367-369)ctG>ctT p.L123L TMEM18_uc002qwk.3_Non-coding_Transcript NM_152834 NP_690047 Q96B42 TMM18_HUMAN Homo sapiens transmembrane protein 18 (TMEM18), mRNA. 123 cell migration integral to membrane|nuclear membrane endometrium(1)|large_intestine(1)|lung(7)|ovary(1) 10 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) GTGCATTCTTCAGGTCAGTCA 0.423000 25 12 4.3838e-07 2.22737e-06 0.001855 1 0 TIE1 7075 broad.mit.edu 37 1 43772851 43772851 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:43772851G>A uc001ciu.3 + 4 856 c.679G>A c.(679-681)Gag>Aag p.E227K TIE1_uc010okd.2_Missense_Mutation_p.E227K|TIE1_uc010oke.2_Missense_Mutation_p.E182K|TIE1_uc009vwq.3_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'UTR|TIE1_uc010okc.2_Missense_Mutation_p.E227K NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 227 EGF-like 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGTACCAAGGAGTGCCCAGG 0.622000 34 5 0 0 0.000602 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94919500 94919500 + Missense_Mutation SNP A T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:94919500A>T uc003unp.3 + 15 3464 c.3182A>T c.(3181-3183)aAa>aTa p.K1061I PPP1R9A_uc010lfj.3_Missense_Mutation_p.K1337I|PPP1R9A_uc011kif.2_Missense_Mutation_p.K1259I|PPP1R9A_uc003unq.3_Missense_Mutation_p.K1216I|PPP1R9A_uc011kig.2_Missense_Mutation_p.K1053I|PPP1R9A_uc003unr.3_Missense_Mutation_p.K350I NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA. 1061 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GCCCAAGAGAAAATGGAAAAA 0.453000 HNSCC(28;0.073) 28 11 0 0 0.000673 0 0 SRCIN1 80725 broad.mit.edu 37 17 36704930 36704930 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:36704930C>T uc002hqd.3 - 16 3358 c.3133G>A c.(3133-3135)Gag>Aag p.E1045K SRCIN1_uc002hqf.1_Missense_Mutation_p.E917K|SRCIN1_uc002hqe.2_Missense_Mutation_p.E899K NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA. 917 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 ACCTCCAGCTCCTCGGACTCA 0.667000 10 5 0 0 0.001168 0 0 TBX18 9096 broad.mit.edu 37 6 85446745 85446745 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:85446745G>A uc003pkl.1 - 7 1482 c.1482C>T c.(1480-1482)ccC>ccT p.P494P TBX18_uc010kbq.2_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN Homo sapiens T-box 18 (TBX18), mRNA. 494 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) ACTGGAGCTGGGGGGACATTC 0.537000 72 19 0 0 0.001523 0 0 ZNF804B 219578 broad.mit.edu 37 7 88965299 88965299 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:88965299G>A uc011khi.2 + 3 3541 c.3003G>A c.(3001-3003)acG>acA p.T1001T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN Homo sapiens zinc finger protein 804B (ZNF804B), mRNA. 1001 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CAAGGACTACGGAGAAAGACA 0.363000 HNSCC(36;0.09) 40 8 0 0 0.003080 0 0 CDH4 1002 broad.mit.edu 37 20 60448822 60448822 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr20:60448822G>A uc002ybn.2 + 6 1004 c.916G>A c.(916-918)Gac>Aac p.D306N CDH4_uc002ybr.2_Missense_Mutation_p.D269N|CDH4_uc002ybp.2_Missense_Mutation_p.D232N NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 306 Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CGATGCTGACGACAGCACCAC 0.622000 32 10 0 0 0.000673 0 0 F13A1 2162 broad.mit.edu 37 6 6225052 6225052 + Nonsense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:6225052C>T uc003mwv.3 - 6 963 c.840G>A c.(838-840)tgG>tgA p.W280* F13A1_uc011dib.2_Nonsense_Mutation_p.W217* NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 280 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AGATATTGTCCCAGGATCCAA 0.498000 49 9 0 0 0.000443 0 0 MUC16 94025 broad.mit.edu 37 19 9090527 9090527 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:9090527C>T uc002mkp.3 - 0 1492 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 430 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAAGTTCCTTCTGTTTCCTTT 0.498000 46 14 0 0 0.001855 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578823 44578823 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr7:44578823C>T uc003tlb.3 - 1 1229 c.1173G>A c.(1171-1173)cgG>cgA p.R391R NPC1L1_uc011kbw.2_Silent_p.R391R|NPC1L1_uc003tlc.3_Silent_p.R391R|NPC1L1_uc003tld.3_Silent_p.R391R NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 391 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding p.R391L(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CTTTCTCACTCCGGGCTTGGC 0.592000 75 47 0 0 0.003610 0 0 PAK4 10298 broad.mit.edu 37 19 39665671 39665671 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:39665671G>A uc002okj.1 + 6 1660 c.1199G>A c.(1198-1200)gGa>gAa p.G400E PAK4_uc002okl.1_Missense_Mutation_p.G400E|PAK4_uc002okn.1_Missense_Mutation_p.G400E|PAK4_uc002okm.1_Missense_Mutation_p.G247E|PAK4_uc002oko.1_Missense_Mutation_p.G247E|PAK4_uc002okp.1_Missense_Mutation_p.G310E NM_001014831 NP_005875 O96013 PAK4_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA. 400 Protein kinase. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) TTCCTGGAAGGAGGCGCCCTC 0.597000 73 5 0 0 0.001168 0 0 MECOM 2122 broad.mit.edu 37 3 169099072 169099072 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr3:169099072C>T uc011bpj.1 - 1 681 c.278G>A c.(277-279)gGa>gAa p.G93E MECOM_uc003ffl.2_Missense_Mutation_p.G65E|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G93E|MECOM_uc011bpl.1_Missense_Mutation_p.G93E NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 93 sequence-specific DNA binding transcription factor activity p.K92E(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GGTCCATATTCCTAGTCCTGC 0.483000 74 19 0 0 0.000958 0 0 GAA 2548 broad.mit.edu 37 17 78084624 78084624 + Silent SNP C T T rs143491365 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:78084624C>T uc002jxp.3 + 9 1903 c.1536C>T c.(1534-1536)ttC>ttT p.F512F GAA_uc002jxo.3_Silent_p.F512F|GAA_uc002jxq.3_Silent_p.F512F NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 512 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) AGGTGCCCTTCGACGGCATGT 0.632000 18 4 0 0 0.000602 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307711 46307711 + Missense_Mutation SNP C G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:46307711C>G uc002pdm.3 - 2 1623 c.1452G>C c.(1450-1452)caG>caC p.Q484H RSPH6A_uc002pdl.3_Missense_Mutation_p.Q220H NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA. 484 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 TGCGGGCTATCTGGGCCCGCA 0.642000 27 9 0 0 0.004482 0 0 ELMO3 79767 broad.mit.edu 37 16 67236598 67236598 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr16:67236598C>T uc002esa.3 + 14 1669 c.1626C>T c.(1624-1626)ttC>ttT p.F542F ELMO3_uc002esb.3_Silent_p.F525F|ELMO3_uc002esc.3_Silent_p.F376F|MIR328_uc010vjf.1_5'Flank NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA. 489 PH. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TGGAGCTCTTCCGAACCAAGG 0.647000 28 5 0 0 0.001984 0 0 SYT16 83851 broad.mit.edu 37 14 62462927 62462927 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr14:62462927G>A uc001xfu.1 + 0 387 c.190G>A c.(190-192)Gaa>Aaa p.E64K SYT16_uc010tsd.1_Missense_Mutation_p.E64K NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 64 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TCAGATTCAGGAAACGTACTT 0.358000 87 9 0 0 0.004482 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202531961 202531961 + Missense_Mutation SNP T G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:202531961T>G uc001gya.2 + 19 2713 c.2563T>G c.(2563-2565)Tca>Gca p.S855A PPP1R12B_uc001gyb.1_Missense_Mutation_p.S81A|PPP1R12B_uc001gyc.1_Missense_Mutation_p.S81A|PPP1R12B_uc021pho.1_Missense_Mutation_p.S59A NM_002481 NP_002472 O60237 MYPT2_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA. 855 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) TGACCGGGCTTCAGCAAGAGC 0.483000 87 4 0 0 0.001984 0 0 SAAL1 113174 broad.mit.edu 37 11 18101970 18101970 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:18101970G>A uc001mnq.3 - 11 1451 c.1401C>T c.(1399-1401)ttC>ttT p.F467F SAAL1_uc001mnr.3_Silent_p.F466F NM_138421 NP_612430 Q96ER3 SAAL1_HUMAN Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA. 467 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 TCAAACTTGGGAAGTTTTTTT 0.328000 47 7 0 0 0.004482 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612560 96612560 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr10:96612560G>A uc010qnz.2 + 8 1362 c.1362G>A c.(1360-1362)caG>caA p.Q454Q CYP2C19_uc010qny.2_Silent_p.Q432Q NM_000769 NP_000760 P33261 CP2CJ_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA. 454 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCATTTTACAGAACTTTAACC 0.448000 54 13 0 0 0.002450 0 0 DOPEY2 9980 broad.mit.edu 37 21 37650525 37650525 + Missense_Mutation SNP C G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr21:37650525C>G uc002yvg.3 + 29 5920 c.5841C>G c.(5839-5841)agC>agG p.S1947R DOPEY2_uc011aeb.2_Missense_Mutation_p.S1896R NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 1947 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 ATGCTCCCAGCTTCCGGGCTG 0.537000 32 9 0 0 0.000443 0 0 HERC6 55008 broad.mit.edu 37 4 89304453 89304453 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr4:89304453G>A uc011cdi.2 + 1 463 c.280G>A c.(280-282)Gga>Aga p.G94R HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc011cdj.2_Missense_Mutation_p.G94R|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA. 94 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GTGCCACAAAGGAAGGGTCTT 0.483000 4 4 0 0 0.000248 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140784277 140784278 + Silent DNP CC TT TT TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:140784277_140784278CC>TT uc003lkh.2 + 0 1758_1759 c.1758_1759CC>TT c.(1756-1761)tacctg>taTTtg p.586_587YL>YL PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.586_587YL>YL NM_018921 NP_061744 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA. 587 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCTGGCTACCTGGTGACCAA 0.599000 60 7 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179589042 179589042 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:179589042G>A uc021vsy.1 - 68 17553 c.17328C>T c.(17326-17328)ttC>ttT p.F5776F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F2437F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6703 Ig-like 38. 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) TTTGAACCTGGAAAGTGTATG 0.398000 27 17 0 0 0.001523 0 0 ABCC6P2 730013 broad.mit.edu 37 16 14916840 14916840 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr16:14916840G>A uc002dcu.2 - 1 155 c.122C>T c.(121-123)cCc>cTc p.P41L Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 2 (ABCC6P2), non-coding RNA. GAGGTACATGGGGGGCACCCA 0.592000 45 11 0 0 0.000673 0 0 PRDM16 63976 broad.mit.edu 37 1 3348622 3348622 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:3348622C>T uc001akf.3 + 15 3696 c.3614C>T c.(3613-3615)gCa>gTa p.A1205V PRDM16_uc001ake.3_Missense_Mutation_p.A1205V|PRDM16_uc009vlh.3_Missense_Mutation_p.A905V|PRDM16_uc001akc.3_Missense_Mutation_p.A1204V NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 1205 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GCTGAGGAAGCATTTGAAGTT 0.527000 T EVI1 """MDS, AML""" 35 10 0 0 0.000443 0 0 NEFL 4747 broad.mit.edu 37 8 24811049 24811049 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:24811049C>T uc003xee.3 - 3 1531 c.1429G>A c.(1429-1431)Gag>Aag p.E477K NM_006158 NP_006149 P07196 NFL_HUMAN Homo sapiens neurofilament, light polypeptide (NEFL), mRNA. 477 Tail, subdomain B (acidic).|Tail. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) tcctcctcctcGGCTTCTCCT 0.532000 4 3 0 0 0.004672 0 0 CILP 8483 broad.mit.edu 37 15 65490910 65490910 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr15:65490910G>A uc002aon.2 - 8 1895 c.1714C>T c.(1714-1716)Cgt>Tgt p.R572C NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 572 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TTTTTCCGACGAAGCATCTTG 0.507000 32 7 0 0 0.003080 0 0 BRMS1 25855 broad.mit.edu 37 11 66109080 66109081 + Missense_Mutation DNP CC TT TT TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:66109080_66109081CC>TT uc001oho.1 - 2 300_301 c.153_154GG>AA c.(151-156)gaggac>gaAAac p.D52N BRMS1_uc001ohp.1_Missense_Mutation_p.D52N|BRMS1_uc009yre.3_5'Flank NM_001024957 NP_001020128 Q9HCU9 BRMS1_HUMAN Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA. 52 apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CGCTCATAGTCCTCATCATCCA 0.574000 79 9 0 0 0.004672 0 0 CCDC30 728621 broad.mit.edu 37 1 43055041 43055042 + Missense_Mutation DNP TT CC CC TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:43055041_43055042TT>CC uc009vwk.1 + 8 1380_1381 c.1270_1271TT>CC c.(1270-1272)tta>CCa p.L424P CCDC30_uc001chm.2_Missense_Mutation_p.L122P|CCDC30_uc001chn.2_Missense_Mutation_p.L213P|CCDC30_uc001chp.3_Missense_Mutation_p.L238P NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA. 424 p.T423A(1)|p.T423I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AGTGAGAACCTTACAAGATAAA 0.356000 36 7 0 0 0.004672 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340392 29340392 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr18:29340392C>T uc002kxa.2 - 0 452 c.233G>A c.(232-234)cGa>cAa p.R78Q NM_001034172 NP_001029344 Q3SY17 MCAR2_HUMAN Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA. 78 transport integral to membrane|mitochondrial inner membrane ATACAAATTTCGAAATCCATC 0.463000 44 7 0 0 0.001984 0 0 RG9MTD3 158234 broad.mit.edu 37 9 37777689 37777689 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr9:37777689G>A uc004aai.3 + 8 1013 c.936G>A c.(934-936)cgG>cgA p.R312R RG9MTD3_uc011lqo.2_Silent_p.R252R|RG9MTD3_uc011lqp.2_Silent_p.R225R|RG9MTD3_uc011lqq.2_Silent_p.R192R|RG9MTD3_uc004aaj.3_Non-coding_Transcript|RG9MTD3_uc004aak.3_Silent_p.R217R NM_144964 NP_659401 Q6PF06 RG9D3_HUMAN Homo sapiens RNA (guanine-9-) methyltransferase domain containing 3 (RG9MTD3), mRNA. 312 methyltransferase activity endometrium(1)|large_intestine(2)|lung(1) 4 GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226) ATATTCTTCGGAACTCAGTGG 0.483000 34 6 0 0 0.001984 0 0 SRBD1 55133 broad.mit.edu 37 2 45789855 45789855 + Missense_Mutation SNP G C C rs150753231 TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:45789855G>C uc002rus.3 - 9 1422 c.1346C>G c.(1345-1347)aCg>aGg p.T449R SRBD1_uc010yoc.2_5'UTR NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA. 449 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process RNA binding|hydrolase activity, acting on ester bonds NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GACCTTAACCGTCAGTACCTT 0.363000 39 4 0 0 0.000248 0 0 EPHA10 284656 broad.mit.edu 37 1 38227564 38227564 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:38227564G>A uc009vvi.3 - 2 449 c.363C>T c.(361-363)acC>acT p.T121T EPHA10_uc001cbw.4_Silent_p.T121T NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 121 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCTCCTTGCAGGTACCCGCGG 0.652000 57 9 0 0 0.000443 0 0 GAB3 139716 broad.mit.edu 37 X 153925439 153925439 + Silent SNP A G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:153925439A>G uc004fmk.1 - 6 1443 c.1395T>C c.(1393-1395)caT>caC p.H465H GAB3_uc004fmj.1_Silent_p.H464H|GAB3_uc010nve.1_Silent_p.H465H|GAB3_uc004fml.1_Silent_p.H84H NM_001081573 NP_001075042 Q8WWW8 GAB3_HUMAN Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA. 464 NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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) TAAGAGATGCATGTTCCCGGA 0.532000 25 18 0 0 0.001216 0 0 PCYT2 5833 broad.mit.edu 37 17 79867395 79867395 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:79867395G>A uc002kcf.2 - 1 282 c.173C>T c.(172-174)aCc>aTc p.T58I PCYT2_uc010wvb.2_Missense_Mutation_p.T26I|PCYT2_uc002kce.2_5'UTR|PCYT2_uc002kch.2_Missense_Mutation_p.T58I|PCYT2_uc002kci.2_5'UTR|PCYT2_uc010wvc.2_5'UTR NM_002861 NP_002852 Q99447 PCY2_HUMAN Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA. 58 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CTTACCATCGGTGTGCACGCC 0.637000 53 10 0 0 0.000443 0 0 CACNB3 784 broad.mit.edu 37 12 49219238 49219239 + Missense_Mutation DNP GC AA AA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:49219238_49219239GC>AA uc001rsl.2 + 7 1054_1055 c.595_596GC>AA c.(595-597)gct>AAt p.A199N CACNB3_uc010sly.2_Missense_Mutation_p.A186N|CACNB3_uc010slz.2_Missense_Mutation_p.A198N|CACNB3_uc001rsk.2_Missense_Mutation_p.A46N|CACNB3_uc021qxm.1_Missense_Mutation_p.A158N NM_000725 NP_000716 P54284 CACB3_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA. 199 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) GATGCAGAAGGCTCTCTTCGAC 0.564000 42 10 0 0 0.004672 0 0 HSF1 3297 broad.mit.edu 37 8 145533467 145533467 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:145533467C>T uc003zbt.4 + 3 543 c.373C>T c.(373-375)Ctg>Ttg p.L125L HSF1_uc003zbu.4_Non-coding_Transcript NM_005526 NP_005517 Q00613 HSF1_HUMAN Homo sapiens heat shock transcription factor 1 (HSF1), mRNA. 125 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) GGTGTCCACCCTGAAGAGTGA 0.597000 55 9 0 0 0.004482 0 0 LRP1B 53353 broad.mit.edu 37 2 141473615 141473615 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:141473615C>T uc002tvj.1 - 36 6922 c.5950G>A c.(5950-5952)Ggt>Agt p.G1984S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1984 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGGAAAGAACCATTGAGTCTT 0.343000 TSP Lung(27;0.18) 93 10 0 0 0.000673 0 0 E2F2 1870 broad.mit.edu 37 1 23850914 23850915 + Missense_Mutation DNP CC TA TA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:23850914_23850915CC>TA uc001bhe.2 - 1 745_746 c.318_319GG>TA c.(316-321)aagggg>aaTAgg p.106_107KG>NR AX748204_uc001bhf.1_5'Flank NM_004091 NP_004082 Q14209 E2F2_HUMAN Homo sapiens E2F transcription factor 2 (E2F2), mRNA. 106 G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) ATGCACTTCCCCTTGGGGGTTG 0.624000 15 8 0 0 0.004672 0 0 CCNB3 85417 broad.mit.edu 37 X 50085299 50085299 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:50085299C>T uc004dox.4 + 8 3913 c.3615C>T c.(3613-3615)ctC>ctT p.L1205L CCNB3_uc004doy.3_Silent_p.L1205L|CCNB3_uc004doz.3_Silent_p.L101L|CCNB3_uc010njq.3_Silent_p.L97L|CCNB3_uc004dpa.3_Silent_p.L44L NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 1205 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) AGTTACAACTCCTTGGTGCCA 0.463000 22 8 0 0 0.003080 0 0 CLEC4D 338339 broad.mit.edu 37 12 8673736 8673736 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr12:8673736G>A uc001qun.3 + 5 710 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA. 173 C-type lectin. innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) GCATAAGAATGAACCCGACAA 0.333000 52 6 0 0 0.001984 0 0 MDC1 9656 broad.mit.edu 37 6 30680344 30680344 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:30680344C>T uc003nrg.4 - 4 1815 c.1375G>A c.(1375-1377)Gag>Aag p.E459K MDC1_uc003nrf.4_Missense_Mutation_p.E113K|MDC1_uc011dmp.1_Missense_Mutation_p.E331K|MDC1_uc003nrh.1_Missense_Mutation_p.E331K|MDC1_uc003nri.2_Missense_Mutation_p.E459K NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 459 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 AGCTCTTCCTCCTCCACGTCT 0.493000 Other conserved DNA damage response genes 44 16 0 0 0.004990 0 0 PCSK9 255738 broad.mit.edu 37 1 55525220 55525220 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:55525220C>T uc001cyf.2 + 9 1927 c.1565C>T c.(1564-1566)gCc>gTc p.A522V PCSK9_uc010oom.2_Non-coding_Transcript NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 522 A -> T. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GGTGTCTACGCCATTGCCAGG 0.607000 94 25 0 0 0.005443 0 0 ADAM2 2515 broad.mit.edu 37 8 39624517 39624517 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:39624517C>T uc003xnj.3 - 13 1432 c.1357G>A c.(1357-1359)Gac>Aac p.D453N ADAM2_uc003xnk.3_Missense_Mutation_p.D434N|ADAM2_uc011lck.2_Missense_Mutation_p.D453N|ADAM2_uc003xnl.3_Missense_Mutation_p.D327N NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 453 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCAGGGAGGTCGCATTCTTCA 0.398000 76 6 0 0 0.001984 0 0 KRT20 54474 broad.mit.edu 37 17 39041341 39041341 + Missense_Mutation SNP G T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:39041341G>T uc002hvl.3 - 0 155 c.97C>A c.(97-99)Ccc>Acc p.P33T NM_019010 NP_061883 P35900 K1C20_HUMAN Homo sapiens keratin 20 (KRT20), mRNA. 33 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TAAACGCTGGGTGTCGTCCCG 0.607000 25 6 1.06961e-07 5.45225e-07 0.003080 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642682 1642682 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:1642682G>A uc009ycy.1 - 2 624 c.537C>T c.(535-537)tcC>tcT p.S179S MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. 274 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AACTAGACTGGGAGCAGCAGG 0.572000 56 7 0 0 0.000443 0 0 PSG2 5670 broad.mit.edu 37 19 43585056 43585056 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr19:43585056C>T uc002ovr.3 - 1 579 c.407G>A c.(406-408)gGa>gAa p.G136E PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 136 Ig-like V-type. cell migration|female pregnancy extracellular region p.G136*(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) GGTGAAATATCCAGTTACTCC 0.502000 96 14 0 0 0.005443 0 0 ABCC8 6833 broad.mit.edu 37 11 17427101 17427101 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr11:17427101C>T uc001mnc.3 - 26 3465 c.3339G>A c.(3337-3339)gaG>gaA p.E1113E NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1113 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGGGCGTGGTCTCAAAAAACC 0.448000 141 26 0 0 0.004656 0 0 KIF1B 23095 broad.mit.edu 37 1 10332333 10332333 + Missense_Mutation SNP T G G TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:10332333T>G uc001aqx.4 + 8 1035 c.833T>G c.(832-834)tTg>tGg p.L278W KIF1B_uc001aqv.4_Missense_Mutation_p.L278W|KIF1B_uc001aqw.4_Missense_Mutation_p.L278W|KIF1B_uc001aqy.3_Missense_Mutation_p.L278W|KIF1B_uc001aqz.3_Missense_Mutation_p.L278W|KIF1B_uc001ara.3_Missense_Mutation_p.L278W|KIF1B_uc001arb.3_Missense_Mutation_p.L278W|KIF1B_uc009vmt.3_Non-coding_Transcript NM_015074 NP_055889 O60333 KIF1B_HUMAN Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA. 278 Interaction with KBP.|Kinesin-motor. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CTTACAACTTTGGGCAAAGTC 0.318000 71 5 0 0 0.000602 0 0 BFAR 51283 broad.mit.edu 37 16 14761504 14761504 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr16:14761504G>A uc002dco.3 + 7 1454 c.1173G>A c.(1171-1173)caG>caA p.Q391Q BFAR_uc010uzh.2_Silent_p.Q263Q NM_016561 NP_057645 Q9NZS9 BFAR_HUMAN Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA. 391 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 CCGTGCCTCAGAGGATGTGGA 0.537000 75 11 0 0 0.001855 0 0 CCDC88A 55704 broad.mit.edu 37 2 55555445 55555445 + Silent SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:55555445G>A uc002ryv.2 - 16 3821 c.2979C>T c.(2977-2979)cgC>cgT p.R993R CCDC88A_uc010ypa.1_Silent_p.R993R|CCDC88A_uc010yoz.1_Silent_p.R994R|CCDC88A_uc002ryu.2_Silent_p.R276R|CCDC88A_uc002rys.3_5'UTR|CCDC88A_uc002ryw.3_Silent_p.R277R|CCDC88A_uc010fby.1_5'UTR NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA. 994 DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TAAGTTCTTGGCGCAATTGCT 0.274000 10 4 0 0 0.001168 0 0 PNMA1 9240 broad.mit.edu 37 14 74179807 74179807 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr14:74179807G>A uc001xor.1 - 0 1322 c.536C>T c.(535-537)cCc>cTc p.P179L NM_006029 NP_006020 Q8ND90 PNMA1_HUMAN Homo sapiens paraneoplastic antigen MA1 (PNMA1), mRNA. 179 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) ctccagccagggatcaaaggt 0.537000 34 4 0 0 0.000248 0 0 LOC284009 284009 broad.mit.edu 37 17 2310519 2310519 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr17:2310519G>A uc002fus.3 - 2 332 c.253C>T c.(253-255)Cct>Tct p.P85S Homo sapiens uncharacterized LOC284009 (LOC284009), non-coding RNA. ACGATGTCAGGGATTCCTTTA 0.527000 9 3 0 0 0.000248 0 0 SLC4A4 8671 broad.mit.edu 37 4 72425842 72425842 + Missense_Mutation SNP G A A TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr4:72425842G>A uc010iic.3 + 22 3087 c.2970G>A c.(2968-2970)atG>atA p.M990I SLC4A4_uc003hfy.3_Missense_Mutation_p.M990I|SLC4A4_uc010iib.3_Missense_Mutation_p.M906I|SLC4A4_uc003hfz.3_Missense_Mutation_p.M990I|SLC4A4_uc003hgc.4_Missense_Mutation_p.M946I|SLC4A4_uc010iid.3_Missense_Mutation_p.M194I NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 990 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity p.S990P(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GAAAAGGCATGGACTACCTCT 0.403000 75 8 0 0 0.000978 0 0 BPIFB6 128859 broad.mit.edu 37 20 31629805 31629805 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr20:31629805C>T uc010zuc.2 + 11 1172 c.1172C>T c.(1171-1173)tCg>tTg p.S391L BPIFB6_uc010zud.2_Missense_Mutation_p.S330L NM_174897 NP_777557 Q8NFQ5 BPIL3_HUMAN Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA. 391 extracellular region lipid binding p.S391*(1) AAGTCCTCATCGATTGGCAAC 0.602000 18 4 0 0 0.000602 0 0 HIC2 23119 broad.mit.edu 37 22 21799328 21799328 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr22:21799328C>T uc002zur.4 + 2 374 c.144C>T c.(142-144)gtC>gtT p.V48V HIC2_uc002zus.4_Silent_p.V48V NM_015094 NP_055909 Q96JB3 HIC2_HUMAN Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA. 48 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) TGTGTGACGTCATCATCATGG 0.602000 41 10 0 0 0.000673 0 0 TTN 7273 broad.mit.edu 37 2 179397387 179397387 + Missense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr2:179397387C>T uc021vsy.1 - 306 96476 c.96251G>A c.(96250-96252)aGa>aAa p.R32084K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R25779K|TTN_uc021vta.1_Missense_Mutation_p.R25712K|TTN_uc021vtb.1_Missense_Mutation_p.R25587K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33011 Fibronectin type-III 132. 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) AAGAGAACGTCTTCTAGGTCG 0.463000 25 24 0 0 0.002780 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092512 151092512 + Nonsense_Mutation SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:151092512C>T uc022cgv.1 + 0 376 c.376C>T c.(376-378)Cga>Tga p.R126* MAGEA4_uc004fez.3_Nonsense_Mutation_p.R126*|MAGEA4_uc004ffa.3_Nonsense_Mutation_p.R126*|MAGEA4_uc004ffb.3_Nonsense_Mutation_p.R126*|MAGEA4_uc022cgu.1_Nonsense_Mutation_p.R154*|MAGEA4_uc004ffc.3_Nonsense_Mutation_p.R126*|MAGEA4_uc004ffd.3_Nonsense_Mutation_p.R126* NM_002362 NP_002353 P43358 MAGA4_HUMAN Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA. 126 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) CCGCAAGTATCGAGCCAAGGA 0.527000 25 11 0 0 0.000978 0 0 ITPR3 3710 broad.mit.edu 37 6 33631628 33631628 + Silent SNP C T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr6:33631628C>T uc021ywr.1 + 10 1343 c.1119C>T c.(1117-1119)acC>acT p.T373T NM_002224 NP_002215 Q14573 ITPR3_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA. 373 G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 ACCCCACCACCTTGCAGAAAA 0.602000 30 6 0 0 0.001984 0 0 LOC729862 729862 broad.mit.edu 37 5 28927282 28927282 + RNA SNP G T T TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr5:28927282G>T uc003jgz.1 + 0 c.306G>T Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA. AATTGAATCAGGGAGCTATGA 0.408000 18 6 0.00116845 0.00587968 0.001168 1 0 CLCC1 23155 broad.mit.edu 37 1 109477407 109477407 + Frame_Shift_Del DEL T - - rs150759040 by1000genomes TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr1:109477407delT uc021ora.1 - 9 1552 c.1541delA c.(1540-1542)aagfs p.K514fs AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Del_p.K464fs|CLCC1_uc001dwf.1_Frame_Shift_Del_p.K514fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.K393fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.K329fs NM_001048210 NP_001041675 Q96S66 CLCC1_HUMAN Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA. 514 Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) GAGCTGGGCCTTTTCCGCTGC 0.597 --- 385 --- --- 7 --- EPPK1 83481 broad.mit.edu 37 8 144943831 144943831 + Frame_Shift_Del DEL G - - TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chr8:144943831delG uc003zaa.1 - 0 3604 c.3591delC c.(3589-3591)cccfs p.P1197fs NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1197 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCGTGGGCCGGGCACCATGA 0.682 --- 4 --- --- 2 --- ATRX 546 broad.mit.edu 37 X 76874353 76874354 + Frame_Shift_Ins INS - CACA CACA TCGA-EE-A2GE-06A-11D-A196-08 TCGA-EE-A2GE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c7b2727-77fe-4ff3-94fd-dae0e7892f5d 40c69184-17d3-4e93-a706-f8e2cc4c6e45 g.chrX:76874353_76874354insCACA uc004ecp.4 - 20 5600_5601 c.5368_5369insTGTG c.(5368-5370)gcafs p.A1790fs ATRX_uc004ecq.4_Frame_Shift_Ins_p.A1752fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.A1575fs NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 1790 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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) GGTAGAATCTGCACACTGACCA 0.342 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome --- 53 --- --- 18 ---