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 ARHGAP29 9411 broad.mit.edu 37 1 94639989 94639989 + Silent SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr1:94639989C>T uc001dqj.4 - 22 3591 c.3222G>A c.(3220-3222)caG>caA p.Q1074Q ARHGAP29_uc009wdq.1_Intron NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 1074 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) GTAGAGTTTGCTGGTCAAAGC 0.388000 5 226 0 0 1 0 0 TRIM52 84851 broad.mit.edu 37 5 180687578 180687578 + Missense_Mutation SNP G G C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr5:180687578G>C uc003mnp.3 - 0 542 c.237C>G c.(235-237)gaC>gaG p.D79E BC016291_uc003mnq.3_5'Flank NM_032765 NP_116154 Q96A61 TRI52_HUMAN Homo sapiens tripartite motif containing 52 (TRIM52), mRNA. 79 Glu-rich. intracellular zinc ion binding endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) GAATGGAGCCGTCCCATCCAT 0.552000 4 199 0 0 1 0 0 DNASE2 1777 broad.mit.edu 37 19 12991901 12991901 + Missense_Mutation SNP T T C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr19:12991901T>C uc002mvn.1 - 1 298 c.152A>G c.(151-153)tAc>tGc p.Y51C DNASE2_uc010xmr.1_Missense_Mutation_p.Y51C NM_001375 NP_001366 O00115 DNS2A_HUMAN Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA. 51 apoptosis lysosome DNA binding|deoxyribonuclease II activity|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 CAGATACTTGTACTGCAGCCC 0.647000 29 55 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10091163 10091163 + Missense_Mutation SNP A A G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr3:10091163A>G uc003buw.3 + 16 1597 c.1519A>G c.(1519-1521)Atg>Gtg p.M507V FANCD2_uc003bux.1_Missense_Mutation_p.M507V|FANCD2_uc003buy.1_Missense_Mutation_p.M507V|FANCD2_uc010hcw.1_Non-coding_Transcript NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 507 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CCCATCTGCTATGATGATGAA 0.418000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 258 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37720621 37720621 + Missense_Mutation SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr8:37720621G>A uc003xkm.2 - 5 3700 c.3644C>T c.(3643-3645)cCc>cTc p.P1215L RAB11FIP1_uc003xkn.2_Missense_Mutation_p.P581L|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.P544L NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA. 1215 FIP-RBD. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) AGGGTCCGAGGGGCTGTATTT 0.448000 5 134 0 0 1 0 0 LCTL 197021 broad.mit.edu 37 15 66842425 66842425 + Silent SNP G G C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr15:66842425G>C uc002aqc.3 - 11 1674 c.1542C>G c.(1540-1542)ctC>ctG p.L514L LCTL_uc002aqd.4_Silent_p.L341L|LCTL_uc010bhw.3_Intron NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN Homo sapiens lactase-like (LCTL), mRNA. 514 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCAAAGCTTTGAGGTACCAAC 0.308000 3 61 0 0 1 0 0 CD207 50489 broad.mit.edu 37 2 71058862 71058862 + Missense_Mutation SNP T T C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr2:71058862T>C uc002shg.3 - 4 853 c.806A>G c.(805-807)gAc>gGc p.D269G NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN Homo sapiens CD207 molecule, langerin (CD207), mRNA. 269 C-type lectin. defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 GAATGGCGTGTCATCCACCCA 0.572000 5 125 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131067027 131067027 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr8:131067027C>T uc003yta.2 - 29 3568 c.3340G>A c.(3340-3342)Gaa>Aaa p.E1114K ASAP1_uc003ysz.2_Missense_Mutation_p.E925K|ASAP1_uc011liw.2_Missense_Mutation_p.E1107K NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA. 1114 SH3. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CCCTTCCTTTCAGGCTGTCCT 0.527000 6 127 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180328136 180328136 + Missense_Mutation SNP A A G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr3:180328136A>G uc003fkk.3 + 11 2251 c.2119A>G c.(2119-2121)Aca>Gca p.T707A TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA. 707 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CCGTTTAAATACAAATCAAGG 0.378000 3 101 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972658 92972658 + Missense_Mutation SNP C C G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr8:92972658C>G uc022axs.1 - 11 1991 c.1804G>C c.(1804-1806)Gac>Cac p.D602H RUNX1T1_uc003yfc.2_Missense_Mutation_p.D516H|RUNX1T1_uc010mam.3_Missense_Mutation_p.D516H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D506H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D543H|RUNX1T1_uc022axo.1_Missense_Mutation_p.D543H|RUNX1T1_uc010mao.3_Missense_Mutation_p.D516H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D554H|RUNX1T1_uc022axp.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axq.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axr.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axt.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axu.1_Missense_Mutation_p.D523H|RUNX1T1_uc022axv.1_Missense_Mutation_p.D543H|RUNX1T1_uc010man.2_Missense_Mutation_p.D168H|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D506H NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 543 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCTCCCAGTCTTTGTGCTGG 0.567000 5 51 0 0 1 0 0 CCT2 10576 broad.mit.edu 37 12 69985902 69985902 + Missense_Mutation SNP T T G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr12:69985902T>G uc001svb.1 + 7 807 c.713T>G c.(712-714)cTt>cGt p.L238R CCT2_uc010stl.1_Missense_Mutation_p.L191R NM_006431 NP_001185771 P78371 TCPB_HUMAN Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA. 238 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GCTAAAATTCTTATTGCAAAT 0.299000 38 56 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120241044 120241044 + Missense_Mutation SNP A A G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr12:120241044A>G uc001txj.2 - 9 1317 c.1261T>C c.(1261-1263)Tac>Cac p.Y421H CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Missense_Mutation_p.Y421H NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 421 AGC-kinase C-terminal. intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GCCTTGCTGTACGAAAACCCC 0.488000 3 101 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179408637 179408637 + Silent SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr2:179408637G>A uc021vsy.1 - 294 88755 c.88530C>T c.(88528-88530)taC>taT p.Y29510Y MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y23205Y|TTN_uc021vta.1_Silent_p.Y23138Y|TTN_uc021vtb.1_Silent_p.Y23013Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 30437 Fibronectin type-III 115. 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) TTCCAGCATCGTACCGATTAA 0.413000 44 74 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94693647 94693647 + Nonstop_Mutation SNP T T C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr4:94693647T>C uc011cdt.2 + 15 3280 c.3022T>C c.(3022-3024)Tga>Cga p.*1008R GRID2_uc011cdu.2_Nonstop_Mutation_p.*913R NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 0 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CACCTCCATATGAGCATCAAA 0.403000 25 61 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30521697 30521697 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr16:30521697C>T uc002dyi.4 + 21 2700 c.2524C>T c.(2524-2526)Cct>Tct p.P842S ITGAL_uc002dyj.4_Missense_Mutation_p.P758S|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 842 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TAGCCAGATACCTGTGAGCTG 0.557000 78 134 0 0 1 0 0 HTR2B 3357 broad.mit.edu 37 2 231973299 231973299 + Missense_Mutation SNP G G C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr2:231973299G>C uc002vro.3 - 3 1883 c.1378C>G c.(1378-1380)Cta>Gta p.L460V PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Missense_Mutation_p.L393V NM_000867 NP_000858 P41595 5HT2B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA. 460 ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) GTATCTAGTAGAATGATTGAT 0.393000 3 72 0 0 1 0 0 ETF1 2107 broad.mit.edu 37 5 137844496 137844496 + Missense_Mutation SNP C C G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr5:137844496C>G uc003ldc.4 - 9 1258 c.1093G>C c.(1093-1095)Gaa>Caa p.E365Q ETF1_uc011cyv.2_Missense_Mutation_p.E351Q|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Missense_Mutation_p.E332Q NM_004730 NP_004721 P62495 ERF1_HUMAN Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA. 365 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination cytoplasm protein binding|ribosome binding|translation release factor activity, codon specific breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGCTCATGTTCCTGTCCGGTC 0.433000 8 161 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264048 1264048 + Missense_Mutation SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr11:1264048G>A uc001lta.3 + 30 5997 c.5938G>A c.(5938-5940)Gtt>Att p.V1980I NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 1980 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. VTP -> FTA (in Ref. 4; CAA96577). 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) AGCTACCAGCGTTACACCCAT 0.632000 79 117 0 0 1 0 0 TOPBP1 11073 broad.mit.edu 37 3 133329896 133329896 + Missense_Mutation SNP C C G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr3:133329896C>G uc003eps.3 - 24 4257 c.4125G>C c.(4123-4125)atG>atC p.M1375I NM_007027 NP_008958 Q92547 TOPB1_HUMAN Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA. 1375 DNA repair|response to ionizing radiation PML body|microtubule organizing center|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TTCTCCATCTCATTGCTGCAA 0.353000 Other conserved DNA damage response genes 8 167 0 0 1 0 0 PPHLN1 51535 broad.mit.edu 37 12 42836501 42836501 + Silent SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr12:42836501C>T uc001rng.1 + 10 1188 c.1083C>T c.(1081-1083)caC>caT p.H361H PPHLN1_uc010skr.1_Silent_p.H306H|PPHLN1_uc010sks.1_Silent_p.H287H|PPHLN1_uc010skt.1_Silent_p.H241H|PPHLN1_uc001rni.1_Silent_p.H306H|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron NM_016488 NP_057572 Q8NEY8 PPHLN_HUMAN Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA. 361 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) aaatggatcacgacggaaccc 0.552000 22 279 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717148 222717148 + Silent SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr1:222717148G>A uc001hnh.1 - 1 763 c.705C>T c.(703-705)gcC>gcT p.A235A NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN Homo sapiens HHIP-like 2 (HHIPL2), mRNA. 235 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CTACCTGCTCGGCAACAAAGA 0.622000 10 86 0 0 1 0 0 PATL1 219988 broad.mit.edu 37 11 59421541 59421541 + Missense_Mutation SNP G G C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr11:59421541G>C uc001noe.4 - 8 1179 c.1036C>G c.(1036-1038)Cag>Gag p.Q346E PATL1_uc009yms.1_Missense_Mutation_p.Q316E|PATL1_uc010rkw.2_Missense_Mutation_p.Q51E NM_152716 NP_689929 Q86TB9 PATL1_HUMAN Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA. 346 Region N; interaction with decapping machinery. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body RNA binding|protein binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 ATTGGGGCCTGAGATCTAAGA 0.428000 3 116 0 0 1 0 0 WDR73 84942 broad.mit.edu 37 15 85189404 85189404 + Silent SNP T T C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr15:85189404T>C uc010upa.1 - 5 544 c.528A>G c.(526-528)gtA>gtG p.V176V WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkw.2_Intron|WDR73_uc002bkx.2_Intron|AL357213_uc002bky.1_3'UTR Q6P4I2 WDR73_HUMAN Homo sapiens WD repeat domain 73 (WDR73), mRNA. 0 cervix(1)|large_intestine(1)|lung(1) 3 AGGGACAAAGTACCACGGTAC 0.582000 7 20 0 0 1 0 0 DBN1 1627 broad.mit.edu 37 5 176893800 176893800 + Missense_Mutation SNP C C G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr5:176893800C>G uc003mgx.2 - 8 1032 c.750G>C c.(748-750)aaG>aaC p.K250N DBN1_uc003mgy.2_Missense_Mutation_p.K248N|DBN1_uc010jkn.1_Missense_Mutation_p.K198N|DBN1_uc003mgz.1_Missense_Mutation_p.K185N NM_080881 NP_543157 Q16643 DREB_HUMAN Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA. 248 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding p.R250L(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAACCGCCTCTTGGCCTCTT 0.602000 4 260 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77389861 77389861 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr16:77389861C>T uc002ffc.4 - 8 1855 c.1436G>A c.(1435-1437)cGc>cAc p.R479H ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 479 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R479H(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GAGATACTGGCGGCTGCAGGA 0.488000 46 58 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33043813 33043813 + Missense_Mutation SNP C C G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr21:33043813C>G uc002ypd.2 - 19 3769 c.3343G>C c.(3343-3345)Gag>Cag p.E1115Q SCAF4_uc002ype.2_Missense_Mutation_p.E1093Q|SCAF4_uc010glu.2_Missense_Mutation_p.E1100Q NM_020706 NP_065757 O95104 SFR15_HUMAN Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA. 1115 nucleus RNA binding|nucleotide binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 ACTGCAGCCTCAGACACCCCC 0.517000 7 100 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181731728 181731728 + Missense_Mutation SNP T T C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr1:181731728T>C uc009wxt.3 + 32 4819 c.4624T>C c.(4624-4626)Tgg>Cgg p.W1542R CACNA1E_uc001gow.3_Missense_Mutation_p.W1542R|CACNA1E_uc009wxs.3_Missense_Mutation_p.W1523R|CACNA1E_uc001gox.1_Missense_Mutation_p.W768R NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1542 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCGAGACACCTGGAATATCTT 0.363000 11 45 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142268516 142268516 + Splice_Site SNP C C G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr3:142268516C>G uc003eux.4 - 15 3099 c.2977_splice c.e15-1 p.R993_splice NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 993 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GTAATGTCCTCTGAAAAAGAA 0.343000 Other conserved DNA damage response genes 3 49 0 0 1 0 0 TK1 7083 broad.mit.edu 37 17 76170913 76170913 + Missense_Mutation SNP T T G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr17:76170913T>G uc002juw.2 - 6 842 c.632A>C c.(631-633)aAg>aCg p.K211T NM_003258 NP_003249 P04183 KITH_HUMAN Homo sapiens thymidine kinase 1, soluble (TK1), mRNA. 211 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) TTCCCCTGGCTTTCCTGGCAC 0.632000 8 11 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55286820 55286820 + Missense_Mutation SNP C C A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr19:55286820C>A uc010erz.1 + 3 612 c.574C>A c.(574-576)Cac>Aac p.H192N KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.H192N NM_014218 NP_055033 P43626 KI2L1_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA. 192 Ig-like C2-type 2. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CCCTGCCACCCACGGAGGGAC 0.567000 8 148 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9264798 9264798 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr12:9264798C>T uc001qvk.1 - 3 553 c.440G>A c.(439-441)cGt>cAt p.R147H A2M_uc009zgk.1_5'UTR NM_000014 NP_000005 P01023 A2MG_HUMAN Homo sapiens alpha-2-macroglobulin (A2M), mRNA. 147 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) GGAGACAACACGAAATTTCAC 0.393000 13 35 0 0 1 0 0 KIF2C 11004 broad.mit.edu 37 1 45218863 45218863 + Missense_Mutation SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr1:45218863G>A uc001cmg.4 + 5 614 c.499G>A c.(499-501)Gag>Aag p.E167K KIF2C_uc010olb.2_Intron|KIF2C_uc010olc.2_Missense_Mutation_p.E54K|KIF2C_uc001cmh.4_Missense_Mutation_p.E113K NM_006845 NP_006836 Q99661 KIF2C_HUMAN Homo sapiens kinesin family member 2C (KIF2C), mRNA. 167 Globular (Potential). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) GATGGTCAGCGAGGAGATGGA 0.532000 4 130 0 0 1 0 0 ASRGL1 80150 broad.mit.edu 37 11 62123836 62123836 + Missense_Mutation SNP T T C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr11:62123836T>C uc001nte.4 + 2 514 c.230T>C c.(229-231)aTg>aCg p.M77T ASRGL1_uc001ntf.4_Missense_Mutation_p.M77T|ASRGL1_uc001ntg.4_Intron|ASRGL1_uc001nth.1_5'Flank NM_025080 NP_079356 Q7L266 ASGL1_HUMAN Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA. 77 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) GAGGTTGAAATGGATGCTAGT 0.453000 64 95 0 0 1 0 0 CAMKV 79012 broad.mit.edu 37 3 49899480 49899480 + Silent SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr3:49899480C>T uc003cxt.1 - 2 418 c.225G>A c.(223-225)aaG>aaA p.K75K CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Silent_p.K75K|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.K75K|CAMKV_uc011bcz.1_Intron|CAMKV_uc011bda.1_Silent_p.K75K|CAMKV_uc011bdb.1_Non-coding_Transcript NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA. 75 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AAACTCACATCTTGAGGATGC 0.597000 4 48 0 0 1 0 0 KIF2C 11004 broad.mit.edu 37 1 45218850 45218850 + Missense_Mutation SNP G G C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr1:45218850G>C uc001cmg.4 + 5 601 c.486G>C c.(484-486)ttG>ttC p.L162F KIF2C_uc010olb.2_Intron|KIF2C_uc010olc.2_Missense_Mutation_p.L49F|KIF2C_uc001cmh.4_Missense_Mutation_p.L108F NM_006845 NP_006836 Q99661 KIF2C_HUMAN Homo sapiens kinesin family member 2C (KIF2C), mRNA. 162 Globular (Potential). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) AAATACCATTGAGGATGGTCA 0.547000 3 135 0 0 1 0 0 CSF3R 1441 broad.mit.edu 37 1 36937076 36937076 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr1:36937076C>T uc001cax.2 - 9 1827 c.1243G>A c.(1243-1245)Ggg>Agg p.G415R CSF3R_uc001cav.2_Missense_Mutation_p.G415R|CSF3R_uc001caw.2_Missense_Mutation_p.G415R NM_156039 NP_724781 Q99062 CSF3R_HUMAN Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 3, mRNA. 415 Fibronectin type-III 3. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CGAGAGGTCCCGGCTGAGTTA 0.592000 139 180 0 0 1 0 0 OR4N3P 390539 broad.mit.edu 37 15 22414354 22414354 + Missense_Mutation SNP T T C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr15:22414354T>C uc001yuf.3 + 0 893 c.653T>C c.(652-654)aTg>aCg p.M218T abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. AAAGCTTCCATGAAAAAGGTG 0.343000 6 43 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53680377 53680377 + Missense_Mutation SNP A A T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr12:53680377A>T uc001sck.2 + 17 3948 c.3857A>T c.(3856-3858)cAa>cTa p.Q1286L ESPL1_uc001scj.2_Missense_Mutation_p.Q961L|ESPL1_uc010soe.1_Intron NM_012291 NP_036423 Q14674 ESPL1_HUMAN Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA. 1286 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TGTACTACCCAACTTTTTGCA 0.552000 7 124 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150531845 150531845 + Missense_Mutation SNP C C A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr1:150531845C>A uc009wlw.3 + 16 3073 c.2915C>A c.(2914-2916)tCt>tAt p.S972Y ADAMTSL4_uc001eux.3_Missense_Mutation_p.S949Y|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.S910Y|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.S112Y NM_019032 NP_061905 Q6UY14 ATL4_HUMAN Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA. 949 TSP type-1 6. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) AACGTGACTTCTCCGAGCAAC 0.612000 OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 95 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83932102 83932102 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr15:83932102C>T uc002bjt.1 - 3 1989 c.1901G>A c.(1900-1902)aGg>aAg p.R634K BNC1_uc010uos.1_Missense_Mutation_p.R622K NM_001717 NP_001708 Q01954 BNC1_HUMAN Homo sapiens basonuclin 1 (BNC1), mRNA. 634 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 CTCAGTCTCCCTCTCTGAATT 0.552000 5 175 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84582013 84582013 + Missense_Mutation SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr15:84582013G>A uc002bjz.4 + 15 2094 c.1870G>A c.(1870-1872)Gca>Aca p.A624T ADAMTSL3_uc010bmt.1_Missense_Mutation_p.A624T NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 624 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CCTCCTGGAAGCATGTGATGA 0.617000 25 32 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48772221 48772221 + Nonsense_Mutation SNP G G C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr8:48772221G>C uc003xqi.3 - 46 6212 c.6155C>G c.(6154-6156)tCa>tGa p.S2052* PRKDC_uc003xqj.3_Nonsense_Mutation_p.S2052* NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 2053 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding p.S2052*(1)|p.S2053*(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGAGCTGTATGAATAGCTCTG 0.438000 Non-homologous end-joining 6 206 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154533507 154533507 + Silent SNP T T C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr4:154533507T>C uc010ipp.3 + 25 3574 c.3522T>C c.(3520-3522)tcT>tcC p.S1174S KIAA0922_uc003inm.4_Silent_p.S1173S|KIAA0922_uc010ipq.3_Silent_p.S942S NM_001131007 NP_001124479 A2VDJ0 T131L_HUMAN Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA. 1173 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) ACAAAACATCTAGAGAAGACA 0.343000 35 38 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114263046 114263046 + Missense_Mutation SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr4:114263046G>A uc003ibe.4 + 32 4196 c.4096G>A c.(4096-4098)Gag>Aag p.E1366K ANK2_uc003ibd.4_Missense_Mutation_p.E1357K|ANK2_uc003ibf.4_Missense_Mutation_p.E1366K|ANK2_uc011cgc.2_Missense_Mutation_p.E542K|ANK2_uc003ibg.4_Missense_Mutation_p.E361K|ANK2_uc003ibh.4_Missense_Mutation_p.E40K|ANK2_uc011cgb.1_Missense_Mutation_p.E1381K NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1333 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAATTTTGCTGAGGTGGCCAG 0.373000 12 102 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981484 201981484 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr1:201981484C>T uc001gxg.4 + 2 3590 c.398C>T c.(397-399)tCt>tTt p.S133F ELF3_uc001gxi.4_Missense_Mutation_p.S133F|ELF3_uc001gxh.4_Missense_Mutation_p.S133F NM_004433 NP_004424 P78545 ELF3_HUMAN Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA. 133 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 TCCAGCTCTTCTGATGAGCTC 0.582000 4 112 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16548625 16548625 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr19:16548625C>T uc002ndx.3 - 4 271 c.265G>A c.(265-267)Gtt>Att p.V89I EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_5'Flank|EPS15L1_uc002ndz.1_Missense_Mutation_p.V89I|EPS15L1_uc010xpf.1_5'UTR|EPS15L1_uc002nea.1_Missense_Mutation_p.V89I|EPS15L1_uc010eah.1_Missense_Mutation_p.V89I|EPS15L1_uc002neb.1_5'Flank|EPS15L1_uc002nec.1_Missense_Mutation_p.V89I NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA. 89 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CTCAAGGTAACTTCATGGCCA 0.468000 7 53 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221748 5221748 + Missense_Mutation SNP C C G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr11:5221748C>G uc010qyz.2 - 0 183 c.183G>C c.(181-183)gaG>gaC p.E61D NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGGCTTGGCTCAGTCCATA 0.537000 13 72 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50824648 50824648 + Splice_Site SNP T T G rs143723043 TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr10:50824648T>G uc001jhz.2 + 2 540 c.387_splice c.e2+1 p.S129_splice CHAT_uc001jhv.1_Splice_Site_p.S11_splice|CHAT_uc001jhx.1_Splice_Site_p.S11_splice|CHAT_uc001jhy.1_Splice_Site_p.S11_splice|CHAT_uc001jia.2_Splice_Site_p.S47_splice|CHAT_uc010qgs.1_Splice_Site_p.S11_splice NM_020549 NP_066266 P28329 CLAT_HUMAN Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA. 129 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GTGAGGAGTCTGTGAGTGACT 0.567000 17 14 0 0 1 0 0 AMOTL2 51421 broad.mit.edu 37 3 134089564 134089564 + Missense_Mutation SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr3:134089564G>A uc003eqf.2 - 1 1003 c.886C>T c.(886-888)Cac>Tac p.H296Y AMOTL2_uc003eqg.1_Missense_Mutation_p.H238Y|AMOTL2_uc003eqh.1_Missense_Mutation_p.H238Y NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN Homo sapiens angiomotin like 2 (AMOTL2), mRNA. 238 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 TGCTGGAAGTGCGGGCTGCCG 0.587000 6 85 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156641203 156641203 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr1:156641203C>T uc001fpq.3 - 3 2910 c.2777G>A c.(2776-2778)gGa>gAa p.G926E NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 926 Tail. G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTGGTACTCTCCCTTTCCCAG 0.527000 6 246 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125315950 125315950 + Missense_Mutation SNP C C G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr9:125315950C>G uc011lyx.2 + 0 502 c.502C>G c.(502-504)Cta>Gta p.L168V NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L168P(1) breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GTGCTGGGTGCTAACCAACTG 0.532000 17 184 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11200233 11200233 + Nonsense_Mutation SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chrX:11200233G>A uc004cup.1 - 5 2152 c.1279C>T c.(1279-1281)Cag>Tag p.Q427* ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Nonsense_Mutation_p.Q427*|ARHGAP6_uc004cum.1_Nonsense_Mutation_p.Q224*|ARHGAP6_uc004cun.1_Nonsense_Mutation_p.Q247*|ARHGAP6_uc010neb.1_Nonsense_Mutation_p.Q249*|ARHGAP6_uc011mif.1_Nonsense_Mutation_p.Q224* NM_013427 NP_038286 O43182 RHG06_HUMAN Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA. 427 Rho-GAP. Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly actin filament|cytosol Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CCCACTGTCTGGAGGCCTGCA 0.398000 6 165 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7330441 7330441 + Silent SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr17:7330441C>T uc002ggw.3 + 2 1204 c.1131C>T c.(1129-1131)gaC>gaT p.D377D SPEM1_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA. 377 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) GCTCCCAGGACCCCCGTGAGG 0.682000 10 27 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30681830 30681830 + Silent SNP G G A TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr6:30681830G>A uc003nrg.4 - 2 707 c.267C>T c.(265-267)ctC>ctT p.L89L MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Silent_p.L89L NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 89 FHA.|Interaction with CHEK2.|Interaction with the MRN complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding p.I88F(1) breast(2)|kidney(1)|ovary(1) 4 CACAGTCTCGGAGGATAGGTG 0.517000 Other conserved DNA damage response genes 4 98 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b 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 38 63 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200705 155200705 + Missense_Mutation SNP G G C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr3:155200705G>C uc021xge.1 - 22 3411 c.3134C>G c.(3133-3135)tCt>tGt p.S1045C PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1007C NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1045 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GTGGGCAGTAGATACAATGGT 0.463000 3 177 0 0 1 0 0 EIF4G2 1982 broad.mit.edu 37 11 10822345 10822345 + Missense_Mutation SNP A A G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr11:10822345A>G uc009ygf.3 - 15 1883 c.1577T>C c.(1576-1578)aTc>aCc p.I526T EIF4G2_uc001mjb.3_Missense_Mutation_p.I320T|EIF4G2_uc001mjc.3_Missense_Mutation_p.I320T|EIF4G2_uc001mjd.3_Missense_Mutation_p.I488T NM_001418 NP_001409 P78344 IF4G2_HUMAN Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA. 526 RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CTTTTCCTGGATAAGCGGTGG 0.383000 48 75 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31435803 31435803 + Missense_Mutation SNP G G C TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr16:31435803G>C uc010cap.1 + 28 3329 c.3280G>C c.(3280-3282)Gaa>Caa p.E1094Q ITGAD_uc002ebv.1_Missense_Mutation_p.E1093Q NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 1093 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.E1094K(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GATGGTGCTAGAAGAAGACGA 0.542000 6 105 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139163752 139163752 + Missense_Mutation SNP A A G TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr8:139163752A>G uc003yuy.3 - 12 3137 c.2966T>C c.(2965-2967)gTg>gCg p.V989A FAM135B_uc003yux.3_Missense_Mutation_p.V890A|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.V551A|FAM135B_uc003yvb.3_Missense_Mutation_p.V551A NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 989 p.T988T(1)|p.V989V(1) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGAATGGGTCACAGTGGGGCA 0.493000 HNSCC(54;0.14) 41 70 0 0 1 0 0 TMEM109 79073 broad.mit.edu 37 11 60689584 60689584 + Missense_Mutation SNP C C T TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr11:60689584C>T uc001nqg.3 + 3 1057 c.679C>T c.(679-681)Cgc>Tgc p.R227C TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank NM_024092 NP_076997 Q9BVC6 TM109_HUMAN Homo sapiens transmembrane protein 109 (TMEM109), mRNA. 227 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 GGAGGAGCTGCGCTGGCGCCA 0.687000 5 39 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112185090 112185101 + Splice_Site DEL CCCACTCAGGTT CCCACTCAGGTT - TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chr12:112185090_112185101delCCCACTCAGGTT uc009zvx.3 + 17 2688 c.2488_splice c.e17-1 p.V830_splice ACAD10_uc001tsp.3_Splice_Site_p.V799_splice|ACAD10_uc001tsq.3_Splice_Site_p.V799_splice|ACAD10_uc001tss.1_Splice_Site NM_001136538 NP_001130010 Q6JQN1 ACD10_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA. 799 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GAATATGCTCCCCACTCAGGTTGCCTCTTCAG 0.561 34 56 --- --- --- --- TEX11 56159 broad.mit.edu 37 X 70053437 70053438 + Frame_Shift_Ins INS - - AACT TCGA-BJ-A0ZB-01A-11D-A10S-08 TCGA-BJ-A0ZB-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx add0b0f6-b4a8-4b73-b634-c3600dc567d5 d078cbf9-7e5f-47cb-9f33-725a33f31c1b g.chrX:70053437_70053438insAACT uc004dyl.3 - 8 738_739 c.576_577insAGTT c.(574-579)gttgctfs p.V192fs TEX11_uc004dym.3_Frame_Shift_Ins_p.V177fs NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA. 192 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCCCCTTGAGCAACTGCCTGAA 0.356 23 11 --- --- --- ---