Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PPM1D 8493 broad.mit.edu 37 17 58740503 58740503 + Missense_Mutation SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr17:58740503G>A uc002iyt.2 + 5 1640 c.1408G>A c.(1408-1410)Gat>Aat p.D470N PPM1D_uc010ddm.2_Non-coding_Transcript NM_003620 NP_003611 O15297 PPM1D_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA. 470 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) ACCCTCAAAAGATCCAGAACC 0.423000 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 3 59 0 0 1 0 0 FGF3 2248 broad.mit.edu 37 11 69625427 69625427 + Silent SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr11:69625427G>A uc001oph.3 - 2 857 c.366C>T c.(364-366)caC>caT p.H122H NM_005247 NP_005238 P11487 FGF3_HUMAN Homo sapiens fibroblast growth factor 3 (FGF3), mRNA. 122 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity p.H122Q(2)|p.H122N(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 13 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) AGCCCAGCTCGTGGATCCGCT 0.647000 7 174 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139658912 139658912 + Missense_Mutation SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr8:139658912G>A uc003yvd.3 - 46 3908 c.3461C>T c.(3460-3462)cCt>cTt p.P1154L COL22A1_uc011ljo.2_Missense_Mutation_p.P434L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1154 Collagen-like 10.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.P1154S(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TAGGCCTGGAGGCCCAGCCTC 0.493000 HNSCC(7;0.00092) 3 5 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 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 28 60 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51111289 51111289 + Silent SNP C C T TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr7:51111289C>T uc003tps.3 - 8 1553 c.1368G>A c.(1366-1368)gcG>gcA p.A456A COBL_uc003tpr.4_Silent_p.A399A|COBL_uc011kcl.2_Silent_p.A399A|COBL_uc010kzc.3_Silent_p.A399A|COBL_uc003tpp.4_Silent_p.A185A|COBL_uc003tpq.4_Silent_p.A340A NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 399 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGTCCTCCGACGCAAAACAGC 0.607000 5 93 0 0 1 0 0 TTC21B 79809 broad.mit.edu 37 2 166770121 166770121 + Missense_Mutation SNP A A G TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr2:166770121A>G uc002udk.3 - 15 2307 c.2174T>C c.(2173-2175)tTt>tCt p.F725S NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA. 725 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 AAGGAGAAGAAAAGACCGAGG 0.323000 18 51 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606565 21606565 + Silent SNP A A G TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr19:21606565A>G uc002npw.3 + 3 1223 c.1104A>G c.(1102-1104)aaA>aaG p.K368K ZNF493_uc002npx.3_Silent_p.K240K|ZNF493_uc002npy.3_Silent_p.K240K|ZNF493_uc021urq.1_Silent_p.K240K NM_001076678 NP_787106 Q6ZR52 ZN493_HUMAN Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA. 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 CTACACATAAAAGAATTCATA 0.358000 3 73 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52266070 52266070 + Silent SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr3:52266070G>A uc003ddd.3 - 2 323 c.172C>T c.(172-174)Ctg>Ttg p.L58L TLR9_uc003ddb.3_5'Flank|TLR9_uc003ddc.1_5'Flank NM_007284 NP_009215 Q9NR96 TLR9_HUMAN Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA. 0 I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of 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-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) AGCAGTGGCAGCACGGCCCTG 0.662000 OREG0015610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 41 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29586031 29586031 + Nonsense_Mutation SNP C C A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr1:29586031C>A uc001bru.3 + 4 759 c.630C>A c.(628-630)tgC>tgA p.C210* PTPRU_uc009vtq.3_Nonsense_Mutation_p.C210*|PTPRU_uc009vtr.3_Nonsense_Mutation_p.C210*|PTPRU_uc001brw.3_Nonsense_Mutation_p.C210* NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 210 Ig-like C2-type. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CGTTCCAGTGCATGGCCGCGG 0.687000 3 58 0 0 1 0 0 ZNF623 9831 broad.mit.edu 37 8 144733418 144733418 + Missense_Mutation SNP A A G TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr8:144733418A>G uc003yzd.2 + 0 1465 c.1376A>G c.(1375-1377)tAt>tGt p.Y459C ZNF623_uc011lkp.1_Missense_Mutation_p.Y419C|ZNF623_uc003yzc.2_Missense_Mutation_p.Y419C NM_014789 NP_055604 O75123 ZN623_HUMAN Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA. 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GAAAAGCCCTATGTGTGCAGT 0.443000 34 50 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21817055 21817055 + Splice_Site SNP T T C TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr5:21817055T>C uc010iuc.2 - 6 1460 c.1002_splice c.e6+1 p.K334_splice CDH12_uc011cno.1_Splice_Site_p.K294_splice|CDH12_uc003jgk.2_Splice_Site_p.K334_splice NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 334 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TCTATATACCTTTTTCAATTT 0.294000 HNSCC(59;0.17) 3 109 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31336828 31336828 + Missense_Mutation SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr16:31336828G>A uc002ebr.3 + 20 2614 c.2516G>A c.(2515-2517)cGc>cAc p.R839H ITGAM_uc002ebq.3_Missense_Mutation_p.R838H|ITGAM_uc010can.3_Missense_Mutation_p.R244H|ITGAM_uc002ebs.1_Missense_Mutation_p.R244H NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 838 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CAGAACCAGCGCTCACAGCGA 0.602000 36 48 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113803259 113803259 + Missense_Mutation SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr13:113803259G>A uc001vsx.3 + 7 952 c.895G>A c.(895-897)Ggt>Agt p.G299S F10_uc001vsy.3_Silent_p.A295A NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 299 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAGGAGGGCGGTGAGGCGGT 0.602000 6 321 0 0 1 0 0 MTHFD2L 441024 broad.mit.edu 37 4 75147202 75147202 + Missense_Mutation SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr4:75147202G>A uc011cbk.2 + 6 893 c.866G>A c.(865-867)gGt>gAt p.G289D MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron NM_001144978 NP_001138450 Q9H903 MTD2L_HUMAN Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA. 231 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) ATTGATGTGGGTATCAACTAT 0.368000 3 50 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81743303 81743303 + Silent SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr14:81743303G>A uc001xvk.1 - 5 2765 c.2352C>T c.(2350-2352)taC>taT p.Y784Y STON2_uc010tvu.2_Silent_p.Y784Y|STON2_uc010tvt.2_Silent_p.Y581Y NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 784 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGGCATGCTCGTACTTGGCAG 0.493000 5 166 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52402841 52402841 + Silent SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr3:52402841G>A uc011bef.2 + 36 6111 c.5850G>A c.(5848-5850)ccG>ccA p.P1950P NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 1950 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCGATGGGCCGGTGGATGCCA 0.572000 4 237 0 0 1 0 0 MINOS1 440574 broad.mit.edu 37 1 19948613 19948613 + Silent SNP A A T TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr1:19948613A>T uc021ohu.1 + 1 153 c.84A>T c.(82-84)ggA>ggT p.G28G MINOS1_uc001bch.2_Non-coding_Transcript|MINOS1_uc001bci.2_Silent_p.G28G|MINOS1_uc021oht.1_Intron|MINOS1_uc021ohv.1_Non-coding_Transcript|NBL1_uc021ohw.1_Intron|NBL1_uc009vpl.2_Intron NM_001204083 NP_001191012 Q5TGZ0 CA151_HUMAN Homo sapiens mitochondrial inner membrane organizing system 1 (MINOS1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA. 28 integral to membrane|mitochondrion TTGGATTAGGAATTGTTTTCT 0.343000 8 36 0 0 1 0 0 NAPSB 256236 broad.mit.edu 37 19 50838162 50838162 + Missense_Mutation SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr19:50838162G>A uc002prw.3 - 6 853 c.77C>T c.(76-78)cCt>cTt p.P26L NR1H2_uc002prv.4_Intron Homo sapiens napsin B aspartic peptidase pseudogene (NAPSB), non-coding RNA. central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1) 4 TACGATGACAGGTGTGCCTGT 0.617000 3 42 0 0 1 0 0 SLC27A4 10999 broad.mit.edu 37 9 131112801 131112801 + Missense_Mutation SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr9:131112801G>A uc004but.3 + 5 1109 c.824G>A c.(823-825)cGc>cAc p.R275H SLC27A4_uc004buu.3_Intron NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA. 275 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 TATGGATTCCGCATGCGGCCC 0.607000 3 36 0 0 1 0 0 KRT33A 3883 broad.mit.edu 37 17 39504836 39504836 + Missense_Mutation SNP G G A TCGA-FY-A3NN-01A-11D-A21A-08 TCGA-FY-A3NN-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 94685f1a-d017-41d1-8b00-1c24ac80ee18 2275d069-2d8f-4ea6-b1af-7ea5f185b985 g.chr17:39504836G>A uc002hwk.1 - 2 524 c.487C>T c.(487-489)Cgc>Tgc p.R163C NM_004138 NP_004129 O76009 KT33A_HUMAN Homo sapiens keratin 33A (KRT33A), mRNA. 163 Coil 1B.|Rod. intermediate filament protein binding|structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) AGGATCCTGCGCAGGCCATTG 0.607000 4 170 0 0 1 0 0