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 ACHILLES_Top_Genes 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_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut MUTYH 4595 broad.mit.edu 37 1 45797139 45797139 + Missense_Mutation SNP G G A rs150792276 byFrequency TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr1:45797139G>A uc001cnm.2 - 13 1483 c.1267C>T c.(1267-1269)CGT>TGT p.R423C MUTYH_uc009vxn.2_Missense_Mutation_p.R248C|MUTYH_uc001cnf.2_Missense_Mutation_p.R398C|MUTYH_uc009vxo.2_Missense_Mutation_p.R398C|MUTYH_uc001cng.2_Missense_Mutation_p.R409C|MUTYH_uc001cnj.2_Missense_Mutation_p.R306C|MUTYH_uc001cni.2_Missense_Mutation_p.R398C|MUTYH_uc001cnh.2_Missense_Mutation_p.R399C|MUTYH_uc001cno.2_Missense_Mutation_p.R306C|MUTYH_uc001cnk.2_Missense_Mutation_p.R283C|MUTYH_uc010oll.1_Missense_Mutation_p.R107C|MUTYH_uc001cnl.2_Missense_Mutation_p.R412C|MUTYH_uc009vxp.2_Missense_Mutation_p.R426C|MUTYH_uc001cnn.2_Missense_Mutation_p.R413C NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN mutY homolog isoform 1 423 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding 0 Acute lymphoblastic leukemia(166;0.155) CCAGCCCAACGCTGTAGTTCC 0.622 NA Mis colorectal BER_DNA_glycosylases MUTYH-associated_polyposis 5 20 0 0 0.000602214 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399791 90399791 + Silent SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr1:90399791C>T uc001dnm.2 + 3 1589 c.1164C>T c.(1162-1164)TTC>TTT p.F388F LRRC8D_uc001dnn.2_Silent_p.F388F NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 388 integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) TCTGGTTATTCAGGATACCTT 0.368 NA 22 99 0 0 0.00188189 0 0 CHIA 27159 broad.mit.edu 37 1 111861206 111861206 + Missense_Mutation SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr1:111861206G>A uc001eas.2 + 9 924 c.821G>A c.(820-822)AGC>AAC p.S274N CHIA_uc001ear.2_Missense_Mutation_p.S166N|CHIA_uc001eaq.2_Missense_Mutation_p.S166N|CHIA_uc009wgc.2_Missense_Mutation_p.S166N|CHIA_uc001eat.2_Missense_Mutation_p.S113N|CHIA_uc001eav.2_Missense_Mutation_p.S113N|CHIA_uc001eau.2_Missense_Mutation_p.S113N|CHIA_uc009wgd.2_Missense_Mutation_p.S113N NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 274 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TTCATCCTGAGCAACCCCTCC 0.527 NA 29 74 0 0 0.00178596 0 0 DDX59 83479 broad.mit.edu 37 1 200635721 200635721 + Missense_Mutation SNP C C G rs150913822 byFrequency TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr1:200635721C>G uc009wzk.2 - 2 391 c.148G>C c.(148-150)GCC>CCC p.A50P DDX59_uc010ppl.1_Missense_Mutation_p.A50P NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 50 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding ovary(2)|breast(1)|central_nervous_system(1) 4 TCTATTGTGGCTGCTTCTGTA 0.507 NA 4 88 0 0 0.00024832 0 0 SORCS1 114815 broad.mit.edu 37 10 108412182 108412182 + Silent SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr10:108412182C>T uc001kym.2 - 18 2441 c.2433G>A c.(2431-2433)GCG>GCA p.A811A SORCS1_uc001kyl.2_Silent_p.A811A|SORCS1_uc009xxs.2_Silent_p.A811A|SORCS1_uc001kyn.1_Silent_p.A811A|SORCS1_uc001kyo.2_Silent_p.A811A NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 811 Lumenal (Potential).|PKD. integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTCCTTGTTCCGCTGTCAGCT 0.522 NA 24 26 0 0 0.00106085 0 0 SLC6A5 9152 broad.mit.edu 37 11 20658729 20658729 + Silent SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr11:20658729C>T uc001mqd.2 + 12 2022 c.1749C>T c.(1747-1749)ATC>ATT p.I583I SLC6A5_uc009yic.2_Silent_p.I348I NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 583 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TTGCCACCATCGAGACCATAG 0.498 NA 19 101 0 0 0.000295444 0 0 GPR19 2842 broad.mit.edu 37 12 12814367 12814367 + Missense_Mutation SNP C C A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr12:12814367C>A uc001rar.3 - 2 1209 c.1016G>T c.(1015-1017)AGA>ATA p.R339I GPR19_uc001raq.2_Missense_Mutation_p.R339I NM_006143 NP_006134 Q15760 GPR19_HUMAN G protein-coupled receptor 19 339 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) TTTCATCCCTCTCCGAAAATT 0.368 NA 52 52 4.0306e-16 3.3916e-15 0.000781405 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 11 9 1.49906e-05 0.000114928 0.000219431 1 0 TSHR 7253 broad.mit.edu 37 14 81609917 81609917 + Silent SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr14:81609917C>T uc001xvd.1 + 10 1671 c.1515C>T c.(1513-1515)AGC>AGT p.S505S NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 505 Helical; Name=3; (Potential). S -> R (in HTNA; gain of function).|S -> N (in HTNA; found in toxic thyroid nodules). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.S505N(3) thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TCTTTGCAAGCGAGTTATCGG 0.567 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 11 33 0 0 0.00136819 0 0 ASB2 51676 broad.mit.edu 37 14 94405662 94405662 + Missense_Mutation SNP T T C TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr14:94405662T>C uc001ycc.1 - 6 1754 c.1265A>G c.(1264-1266)TAT>TGT p.Y422C ASB2_uc001ycb.1_Missense_Mutation_p.Y116C|ASB2_uc001ycd.2_Missense_Mutation_p.Y470C|ASB2_uc001yce.1_Missense_Mutation_p.Y368C NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 422 intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CGTGGCGATATAGGCGTCGAT 0.657 NA 11 31 0 0 0.00185496 0 0 Unknown 0 broad.mit.edu 37 15 28599954 28599954 + Silent SNP A A G rs144345425 by1000genomes TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr15:28599954A>G uc010uaf.1 - 4 306 c.288T>C c.(286-288)CTT>CTC p.L96L SubName: Full=Putative uncharacterized protein ENSP00000383535; Flags: Fragment; NA GGCTGTAGTAAAGTGCCATCT 0.478 NA 3 51 0 0 6.4e-05 0 0 STRA6 64220 broad.mit.edu 37 15 74481499 74481499 + Silent SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr15:74481499C>T uc002axk.2 - 12 1229 c.1047G>A c.(1045-1047)CAG>CAA p.Q349Q STRA6_uc002axi.2_Silent_p.Q158Q|STRA6_uc010ulh.1_Silent_p.Q387Q|STRA6_uc002axj.2_Silent_p.Q388Q|STRA6_uc010bji.2_Silent_p.Q349Q|STRA6_uc002axl.2_Silent_p.Q281Q|STRA6_uc002axm.2_Silent_p.Q349Q|STRA6_uc002axn.2_Silent_p.Q340Q|STRA6_uc010uli.1_Silent_p.Q386Q|STRA6_uc010bjj.1_RNA NM_022369 NP_071764 Q9BX79 STRA6_HUMAN stimulated by retinoic acid gene 6 homolog 349 Cytoplasmic (Potential). adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity central_nervous_system(1) 1 CCACCACCTCCTGCTTGTCCT 0.567 NA 5 22 0 0 0.00116845 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79064048 79064048 + Missense_Mutation SNP C C A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr15:79064048C>A uc002bej.3 - 15 2466 c.2255G>T c.(2254-2256)GGC>GTC p.G752V ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.G752V NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 752 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 GATGGTCCAGCCACCATTGAG 0.647 NA 29 20 2.61193e-14 2.14552e-13 0.00178596 1 0 PRKCB 5579 broad.mit.edu 37 16 24166139 24166139 + Silent SNP G G A rs141827066 TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr16:24166139G>A uc002dmd.2 + 10 1397 c.1200G>A c.(1198-1200)CCG>CCA p.P400P PRKCB_uc002dme.2_Silent_p.P400P NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 400 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.P400P(1) ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) CTGGGAAGCCGCCCTTCCTGA 0.567 NA 4 10 0 0 0.000602214 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr17:7577121G>A uc002gim.2 - 8 1011 c.817C>T c.(817-819)CGT>TGT p.R273C TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542 Pancreas(47;798 1329 9957 10801) R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 12 0 0 0.00116845 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6241405 6241405 + Silent SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr18:6241405G>A uc002kmz.3 - 8 664 c.504C>T c.(502-504)GCC>GCT p.A168A L3MBTL4_uc010dkt.2_Silent_p.A168A|L3MBTL4_uc002kmy.3_Silent_p.A6A NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 168 MBT 2. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) GCAATTTGCAGGCCTTCAAGT 0.313 Esophageal Squamous(41;748 902 17366 28959 43175) NA 30 116 0 0 0.001512 0 0 SYT3 84258 broad.mit.edu 37 19 51133107 51133107 + Silent SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr19:51133107G>A uc002pst.2 - 3 1630 c.996C>T c.(994-996)AAC>AAT p.N332N SYT3_uc002psv.2_Silent_p.N332N|SYT3_uc010ycd.1_Silent_p.N332N NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 332 C2 1.|Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CTGAGAAGCCGTTGGAGTCCT 0.507 NA 18 60 0 0 0.000375601 0 0 GNAS 2778 broad.mit.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A rs121913495 TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr20:57484421G>A uc002xzw.2 + 8 2816 c.2531G>A c.(2530-2532)CGT>CAT p.R844H GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142H|GNAS_uc002xzx.2_Missense_Mutation_p.R142H|GNAS_uc010gjr.2_Missense_Mutation_p.R92H|GNAS_uc002xzy.2_Missense_Mutation_p.R127H|GNAS_uc002yaa.2_Missense_Mutation_p.R187H|GNAS_uc010zzt.1_Missense_Mutation_p.R202H|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92H|GNAS_uc002yae.2_Missense_Mutation_p.R126H NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 201 GTP (By similarity). R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS). activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201H(37)|p.R201L(1)|p.R844H(1) pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTTCGCTGCCGTGTCCTGACT 0.423 Colon(117;935 1597 6045 8307 46442) NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 8 37 0 0 0.000274275 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655314 46655314 + Silent SNP G G A rs150338973 byFrequency TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr22:46655314G>A uc003bhh.2 - 1 3906 c.3906C>T c.(3904-3906)AAC>AAT p.N1302N NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1302 Cytoplasmic (Potential).|PLAT. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATCGACCCTCGTTGTTGTGCC 0.453 NA 23 59 0 0 0.00047179 0 0 GALNTL2 117248 broad.mit.edu 37 3 16237394 16237394 + Silent SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr3:16237394C>T uc003car.3 + 2 1142 c.667C>T c.(667-669)CTG>TTG p.L223L GALNTL2_uc003caq.3_5'UTR NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 223 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CAGGGCCTTCCTGAAGGAGAT 0.617 NA 6 21 0 0 0.000274275 0 0 COL7A1 1294 broad.mit.edu 37 3 48623857 48623857 + Missense_Mutation SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr3:48623857C>T uc003ctz.2 - 26 3459 c.3458G>A c.(3457-3459)CGC>CAC p.R1153H NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1153 Nonhelical region (NC1).|VWFA 2. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTGCTGGCGGCGCCCAGGAGC 0.587 NA 26 83 0 0 0.00106085 0 0 HYAL2 8692 broad.mit.edu 37 3 50357600 50357600 + Nonsense_Mutation SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr3:50357600C>T uc003czu.2 - 2 541 c.321G>A c.(319-321)TGG>TGA p.W107* HYAL2_uc003czx.2_Nonsense_Mutation_p.W107*|HYAL2_uc003czv.2_Nonsense_Mutation_p.W107*|HYAL2_uc003czw.2_Nonsense_Mutation_p.W107*|HYAL2_uc010hlj.2_Nonsense_Mutation_p.W107* NM_033158 NP_149348 Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 precursor 107 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) TCCGGTGTGCCCAAAGGCTGA 0.572 NA 16 38 0 0 0.000958276 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741350 140741350 + Missense_Mutation SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr5:140741350G>A uc003ljs.1 + 1 1648 c.1648G>A c.(1648-1650)GTG>ATG p.V550M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.V550M|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 550 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCTGCGCGTGTTAGTGGG 0.687 NA 8 34 0 0 0.000274275 0 0 MICALL2 79778 broad.mit.edu 37 7 1478552 1478552 + Silent SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr7:1478552C>T uc003skj.3 - 10 2193 c.2046G>A c.(2044-2046)CCG>CCA p.P682P MICALL2_uc003skh.3_5'UTR|MICALL2_uc003ski.3_Silent_p.P169P NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 682 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CAGGGGGCTCCGGCCGAAGCC 0.672 NA 8 43 0 0 0.000157383 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23352016 23352016 + Missense_Mutation SNP G G T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr7:23352016G>T uc003swg.2 - 15 1971 c.1705C>A c.(1705-1707)CTG>ATG p.L569M IGF2BP3_uc003swf.2_Missense_Mutation_p.L188M NM_006547 NP_006538 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding 569 anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity ovary(2) 2 CCACTTTGCAGAGCCTTCTGT 0.463 NA 37 123 4.16155e-14 3.33891e-13 0.00195071 1 0 AKAP9 10142 broad.mit.edu 37 7 91671477 91671477 + Missense_Mutation SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr7:91671477C>T uc003ulg.2 + 19 5260 c.5035C>T c.(5035-5037)CGC>TGC p.R1679C AKAP9_uc003ulf.2_Missense_Mutation_p.R1679C|AKAP9_uc003uli.2_Missense_Mutation_p.R1304C NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1691 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTGTGAGCTGCGCAACAGCAG 0.468 NA T BRAF papillary thyroid 23 35 0 0 0.000586117 0 0 PTPRN2 5799 broad.mit.edu 37 7 157387931 157387931 + Missense_Mutation SNP T T A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr7:157387931T>A uc003wno.2 - 17 2616 c.2495A>T c.(2494-2496)CAG>CTG p.Q832L PTPRN2_uc003wnp.2_Missense_Mutation_p.Q815L|PTPRN2_uc003wnq.2_Missense_Mutation_p.Q803L|PTPRN2_uc003wnr.2_Missense_Mutation_p.Q794L|PTPRN2_uc011kwa.1_Missense_Mutation_p.Q855L NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 832 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AATGTTCACCTGCCAAAAGTC 0.483 NA 27 33 0 0 0.00178596 0 0 KCNU1 157855 broad.mit.edu 37 8 36780101 36780101 + Missense_Mutation SNP C C T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr8:36780101C>T uc010lvw.2 + 24 2777 c.2690C>T c.(2689-2691)ACG>ATG p.T897M KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 897 Segment S10.|Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GCCTTTTCTACGGGCACTGTT 0.493 NA 15 35 0 0 0.000308642 0 0 RUSC2 9853 broad.mit.edu 37 9 35561302 35561302 + Missense_Mutation SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr9:35561302G>A uc003zww.2 + 12 4729 c.4474G>A c.(4474-4476)GAC>AAC p.D1492N RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.D1492N NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1492 SH3. cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CCGTGGCCCCGACTCTGGCCT 0.647 NA 16 22 0 0 0.000422831 0 0 SHC3 53358 broad.mit.edu 37 9 91680488 91680488 + Missense_Mutation SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr9:91680488G>A uc004aqg.2 - 6 1098 c.791C>T c.(790-792)ACT>ATT p.T264I NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming 264 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 AACATAGTCAGTTGTGTCCTG 0.453 NA 49 135 0 0 0.000781405 0 0 OR13C4 138804 broad.mit.edu 37 9 107289445 107289445 + Missense_Mutation SNP C C G TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr9:107289445C>G uc011lvn.1 - 1 46 c.46G>C c.(46-48)GGA>CGA p.G16R NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CCAGAGAGTCCCAGAAGAATG 0.398 NA 23 72 0 0 0.000295444 0 0 ASTN2 23245 broad.mit.edu 37 9 119976979 119976979 + Missense_Mutation SNP C C T rs144385545 TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr9:119976979C>T uc004bjs.1 - 3 774 c.673G>A c.(673-675)GTG>ATG p.V225M ASTN2_uc004bjr.1_Missense_Mutation_p.V225M|ASTN2_uc004bjt.1_Missense_Mutation_p.V225M NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 225 Helical; (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TACAGCGCCACGGTGAACACC 0.602 NA 13 25 0 0 0.000219431 0 0 TLR4 7099 broad.mit.edu 37 9 120476644 120476644 + Missense_Mutation SNP G G T TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr9:120476644G>T uc004bjz.2 + 3 2529 c.2238G>T c.(2236-2238)TGG>TGT p.W746C TLR4_uc004bka.2_Missense_Mutation_p.W706C|TLR4_uc004bkb.2_Missense_Mutation_p.W546C NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 746 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AGAGCCGCTGGTGTATCTTTG 0.498 NA 27 43 4.7796e-09 3.74764e-08 0.000720815 1 0 MAGED2 10916 broad.mit.edu 37 X 54837297 54837297 + Missense_Mutation SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chrX:54837297G>A uc004dtk.1 + 4 675 c.581G>A c.(580-582)AGT>AAT p.S194N MAGED2_uc004dtl.1_Missense_Mutation_p.S194N|MAGED2_uc004dtm.1_Missense_Mutation_p.S156N|MAGED2_uc010nkc.1_Missense_Mutation_p.S194N|MAGED2_uc004dtn.1_Missense_Mutation_p.S194N|MAGED2_uc004dto.1_Missense_Mutation_p.S168N NM_177433 NP_803182 Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 194 ovary(2)|breast(1) 3 AGTGATCAGAGTCAGGCTTCT 0.567 NA 6 26 0 0 8.12818e-05 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282643 69282643 + Missense_Mutation SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chrX:69282643G>A uc004dxu.1 + 1 303 c.269G>A c.(268-270)CGC>CAC p.R90H NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 90 lung(1)|skin(1) 2 CGGCCTCCCCGCTCCTCCAAA 0.577 NA 6 5 0 0 8.12818e-05 0 0 IL13RA2 3598 broad.mit.edu 37 X 114249119 114249119 + Missense_Mutation SNP G G C TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chrX:114249119G>C uc004epx.2 - 4 390 c.265C>G c.(265-267)CTA>GTA p.L89V IL13RA2_uc010nqd.1_Missense_Mutation_p.L89V NM_000640 NP_000631 Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 precursor 89 Extracellular (Potential).|Fibronectin type-III 1. extracellular space|integral to membrane|soluble fraction cytokine receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 TTGTAATGTAGATTCTTAGTA 0.353 NA 36 73 0 0 0.000692331 0 0 IL13RA2 3598 broad.mit.edu 37 X 114250375 114250375 + Missense_Mutation SNP G G A TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chrX:114250375G>A uc004epx.2 - 3 229 c.104C>T c.(103-105)CCT>CTT p.P35L IL13RA2_uc010nqd.1_Missense_Mutation_p.P35L NM_000640 NP_000631 Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 precursor 35 Extracellular (Potential).|Fibronectin type-III 1. extracellular space|integral to membrane|soluble fraction cytokine receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 AAAATCCTGAGGAGGGTTAAC 0.318 NA 13 29 0 0 0.00136819 0 0 ZFP36L2 678 broad.mit.edu 37 2 43452831 43452832 + Frame_Shift_Ins INS - - C TCGA-78-7540-01A-11D-2063-08 TCGA-78-7540-11A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6563465a-81d3-4a39-9fef-f276094d2052 6f6df2a5-d696-4051-bac1-b3407f0cdb72 g.chr2:43452831_43452832insC uc002rsv.3 - 2 402_403 c.111_112insG c.(109-114)GGGACGfs p.G37fs LOC100129726_uc010ynx.1_5'Flank NM_006887 NP_008818 P47974 TISD_HUMAN zinc finger protein 36, C3H type-like 2 37_38 cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) GCCACAGGCGTCCCCACCGCCT 0.663 NA 7 9 --- --- --- --- NA NA NA NA NA