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 EFCAB4A 283229 broad.mit.edu 37 11 828915 828915 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr11:828915C>T ENST00000450448.1 + 3 734 c.229C>T c.(229-231)Cgg>Tgg p.R77W EFCAB4A_ENST00000525077.1_Missense_Mutation_p.R77W|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.R77W|AP006621.8_ENST00000532946.1_RNA NM_173584.3 NP_775855.3 Q8N4Y2 EFC4A_HUMAN EF-hand calcium binding domain 4A 77 EF-hand 2. R -> Q (in dbSNP:rs7126805). store-operated calcium entry calcium ion binding endometrium(1)|large_intestine(1)|lung(1) 3 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAGTCTGGACCGGGCTCACAC 0.657000 7 91 0 0 0.004482 0 0 CLC 1178 broad.mit.edu 37 19 40224981 40224981 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr19:40224981G>A ENST00000221804.4 - 3 320 c.245C>T c.(244-246)cCc>cTc p.P82L NM_001828.5 NP_001819.2 Q05315 LPPL_HUMAN Charcot-Leyden crystal galectin 82 Galectin. lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1) 12 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) ATCCTGAAAGGGCATATTCTT 0.537000 9 90 0 0 0.008291 0 0 ZSCAN32 54925 broad.mit.edu 37 16 3433182 3433182 + Missense_Mutation SNP C C A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr16:3433182C>A ENST00000396852.4 - 7 2071 c.1764G>T c.(1762-1764)caG>caT p.Q588H ZSCAN32_ENST00000439568.2_Missense_Mutation_p.Q299H|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.Q376H|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.Q588H|LA16c-306E5.2_ENST00000575785.1_RNA zinc finger and SCAN domain containing 32 GGCTGGAACTCTGGTTGAAGC 0.532000 18 61 7.07596e-05 0.000108498 0.006122 1 0 ABCA13 154664 broad.mit.edu 37 7 48390325 48390325 + Silent SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr7:48390325C>T ENST00000435803.1 + 30 10314 c.10290C>T c.(10288-10290)tgC>tgT p.C3430C NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3430 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCTCTTCCTGCGTGGCACTGA 0.522000 34 70 0 0 0.003271 0 0 MFI2 4241 broad.mit.edu 37 3 196746661 196746661 + Nonsense_Mutation SNP G G A rs149352003 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr3:196746661G>A ENST00000296351.4 - 7 812 c.724C>T c.(724-726)Cga>Tga p.R242* MFI2_ENST00000296350.5_Intron NM_033316.3 NP_201573.1 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 587 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GTTTGCCTTCGTGATGGACTT 0.468000 6 56 0 0 0.001984 0 0 SEMA3D 223117 broad.mit.edu 37 7 84651711 84651711 + Silent SNP T T G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr7:84651711T>G ENST00000284136.6 - 11 1453 c.1410A>C c.(1408-1410)ggA>ggC p.G470G SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 470 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GCTTACCTGTTCCAAGAAACA 0.333000 20 124 0 0 0.008871 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 7 34 0 0 0.001984 0 0 KIF1A 547 broad.mit.edu 37 2 241658530 241658530 + Missense_Mutation SNP G G T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr2:241658530G>T ENST00000498729.2 - 47 5353 c.5107C>A c.(5107-5109)Ccc>Acc p.P1703T KIF1A_ENST00000320389.7_Missense_Mutation_p.P1602T NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1602 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TAGGCATAGGGGCGCCGCACC 0.617000 8 93 1.12685e-05 1.76711e-05 0.004482 1 0 MORC2 22880 broad.mit.edu 37 22 31328614 31328614 + Missense_Mutation SNP A A C TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr22:31328614A>C ENST00000215862.4 - 24 3842 c.2479T>G c.(2479-2481)Tcc>Gcc p.S827A MORC2_ENST00000397641.2_Missense_Mutation_p.S889A NM_014941.1 NP_055756.1 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 889 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 AGGCATTCGGAAGTGGAGGGC 0.592000 8 62 0 0 0.003080 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707784 126707784 + Missense_Mutation SNP G G T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr3:126707784G>T ENST00000393409.2 + 1 348 c.348G>T c.(346-348)aaG>aaT p.K116N PLXNA1_ENST00000251772.4_Missense_Mutation_p.K93N NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 116 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACGTCAACAAGCTGCTGCTGC 0.647000 8 55 1.12685e-05 1.76711e-05 0.004482 1 0 ERICH1 157697 broad.mit.edu 37 8 642491 642491 + Silent SNP C C G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr8:642491C>G ENST00000262109.7 - 3 368 c.291G>C c.(289-291)ggG>ggC p.G97G ERICH1_ENST00000522706.1_Intron|ERICH1_ENST00000518277.1_5'UTR NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 97 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) CTGTGTCATCCCCGCTGGAGG 0.557000 6 88 0 0 0.001984 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 4 68 0 0 0.001984 0 0 CCL3 6348 broad.mit.edu 37 17 34416628 34416628 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:34416628G>A ENST00000225245.5 - 2 171 c.89C>T c.(88-90)cCg>cTg p.P30L AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000590992.1_RNA NM_002983.2 NP_002974.1 P10147 CCL3_HUMAN chemokine (C-C motif) ligand 3 30 cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication extracellular space|soluble fraction chemoattractant activity|chemokine activity|signal transducer activity breast(2)|lung(3)|urinary_tract(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCAGGCGGTCGGCGTGTCAGC 0.552000 14 147 0 0 0.001855 0 0 RUNX1T1 862 broad.mit.edu 37 8 92988161 92988161 + Silent SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr8:92988161G>A ENST00000523629.1 - 10 1774 c.1320C>T c.(1318-1320)taC>taT p.Y440Y RUNX1T1_ENST00000422361.2_Silent_p.Y403Y|RUNX1T1_ENST00000436581.2_Silent_p.Y451Y|RUNX1T1_ENST00000396218.1_Silent_p.Y413Y|RUNX1T1_ENST00000360348.2_Silent_p.Y403Y|RUNX1T1_ENST00000265814.3_Silent_p.Y440Y|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000518844.1_Silent_p.Y413Y|RUNX1T1_ENST00000520724.1_Silent_p.Y403Y NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 440 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) CCTCTGGCACGTATCCAGACG 0.483000 25 143 0 0 0.007291 0 0 UGT2B4 7363 broad.mit.edu 37 4 70355227 70355227 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr4:70355227G>A ENST00000305107.6 - 3 978 c.932C>T c.(931-933)tCg>tTg p.S311L UGT2B4_ENST00000512583.1_Missense_Mutation_p.S311L|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.S175L NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 311 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ACTGACCATCGACCCCAGAGA 0.373000 40 166 0 0 0.003610 0 0 FAM188B 84182 broad.mit.edu 37 7 30830851 30830851 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr7:30830851G>A ENST00000265299.6 + 5 811 c.734G>A c.(733-735)aGc>aAc p.S245N INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 245 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAAGAAGAGAGCCGGAAGGTC 0.547000 16 133 0 0 0.004007 0 0 C15orf32 145858 broad.mit.edu 37 15 93015669 93015669 + Silent SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr15:93015669G>A ENST00000333334.2 + 1 786 c.291G>A c.(289-291)ctG>ctA p.L97L C15orf32_ENST00000556865.1_Silent_p.L97L NM_153040.2 NP_694585.1 Q32M92 CO032_HUMAN chromosome 15 open reading frame 32 97 endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) GTTTGATGCTGAAGCCAACAT 0.428000 4 75 0 0 0.000602 0 0 SCUBE3 222663 broad.mit.edu 37 6 35209013 35209013 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr6:35209013C>T ENST00000274938.7 + 10 1165 c.1165C>T c.(1165-1167)Cgg>Tgg p.R389W SCUBE3_ENST00000394681.1_Missense_Mutation_p.R405W NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 389 EGF-like 9; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 AGGCCAGGGTCGGCTGCACTG 0.582000 OREG0017372 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 99 0 0 0.002450 0 0 CPT1A 1374 broad.mit.edu 37 11 68548198 68548198 + Silent SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr11:68548198C>T ENST00000265641.5 - 12 1522 c.1368G>A c.(1366-1368)tcG>tcA p.S456S CPT1A_ENST00000540367.1_Silent_p.S456S|CPT1A_ENST00000539743.1_Silent_p.S456S|CPT1A_ENST00000376618.2_Silent_p.S456S NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 456 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CAAACGTGAACGACTTGTCAA 0.493000 15 53 0 0 0.004990 0 0 NR6A1 2649 broad.mit.edu 37 9 127287138 127287138 + Missense_Mutation SNP T T G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr9:127287138T>G ENST00000487099.2 - 9 1373 c.1216A>C c.(1216-1218)Acc>Ccc p.T406P NR6A1_ENST00000344523.4_Missense_Mutation_p.T405P|NR6A1_ENST00000416460.2_Missense_Mutation_p.T401P|NR6A1_ENST00000373584.3_Missense_Mutation_p.T402P NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 406 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 GAGGCACTGGTCAGACCCCTG 0.413000 11 22 0 0 0.000978 0 0 STC2 8614 broad.mit.edu 37 5 172755126 172755126 + Missense_Mutation SNP C C A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr5:172755126C>A ENST00000265087.4 - 1 1380 c.71G>T c.(70-72)gGg>gTg p.G24V NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 24 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GGCGTCGGTCCCCCGCGCCGG 0.637000 18 78 3.32936e-07 5.46966e-07 0.006122 1 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) ACACTATGTCGAAAAGTGTTT 0.532000 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 16 9 0 0 0.006122 0 0 PIAS4 51588 broad.mit.edu 37 19 4013192 4013192 + Missense_Mutation SNP C C T rs2289867 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr19:4013192C>T ENST00000262971.2 + 2 414 c.299C>T c.(298-300)cCg>cTg p.P100L NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 100 positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCCAGGACTCCGCTGGCAGGC 0.652000 5 88 0 0 0.000602 0 0 SKIV2L 6499 broad.mit.edu 37 6 31928456 31928456 + Silent SNP A A G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr6:31928456A>G ENST00000375394.2 + 6 596 c.483A>G c.(481-483)gaA>gaG p.E161E SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 161 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GGATGGATGAACCCACCATAA 0.527000 36 127 0 0 0.008740 0 0 SEPT4 5414 broad.mit.edu 37 17 56604314 56604314 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:56604314G>A ENST00000426861.1 - 2 115 c.29C>T c.(28-30)aCg>aTg p.T10M RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000317268.3_Missense_Mutation_p.T29M|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000393086.1_Missense_Mutation_p.T10M|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000457347.2_Missense_Mutation_p.T44M|SEPT4_ENST00000412945.3_Missense_Mutation_p.T21M|SEPT4_ENST00000317256.6_Missense_Mutation_p.T10M|SEPT4_ENST00000580809.1_Intron|SEPT4_ENST00000583114.1_De_novo_Start_InFrame NM_080415.2 NP_536340.1 O43236 SEPT4_HUMAN septin 4 29 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCATCATCCGTGGTGTCCTC 0.582000 13 129 0 0 0.003163 0 0 TNR 7143 broad.mit.edu 37 1 175334302 175334302 + Silent SNP T T G TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr1:175334302T>G ENST00000367674.1 - 12 3139 c.2431A>C c.(2431-2433)Agg>Cgg p.R811R TNR_ENST00000263525.2_Silent_p.R811R NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 811 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCCTCATCCCTGGGGCTGTAG 0.522000 17 48 0 0 0.004990 0 0 APCDD1L 164284 broad.mit.edu 37 20 57035926 57035926 + Missense_Mutation SNP G G C TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr20:57035926G>C ENST00000371149.3 - 4 1656 c.1426C>G c.(1426-1428)Ccc>Gcc p.P476A APCDD1L_ENST00000439429.1_Missense_Mutation_p.P487A NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 476 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) CCTGTGCTGGGGTGCTTCTGC 0.612000 12 55 0 0 0.001368 0 0 KRT28 162605 broad.mit.edu 37 17 38950249 38950249 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:38950249G>A ENST00000306658.7 - 6 1093 c.1028C>T c.(1027-1029)aCg>aTg p.T343M NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 343 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CGCCAGCTGCGTACAGTAGTT 0.572000 39 154 0 0 0.006230 0 0 UCP3 7352 broad.mit.edu 37 11 73717220 73717220 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr11:73717220C>T ENST00000314032.4 - 3 883 c.331G>A c.(331-333)Gcg>Acg p.A111T UCP3_ENST00000426995.2_Missense_Mutation_p.A111T|UCP3_ENST00000348534.4_Missense_Mutation_p.A111T NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 111 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) TCACTGTCCGCGCCTTTGGGG 0.612000 15 34 0 0 0.004990 0 0 ALOXE3 59344 broad.mit.edu 37 17 8000028 8000028 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr17:8000028C>T ENST00000380149.1 - 15 2551 c.2521G>A c.(2521-2523)Gac>Aac p.D841N ALOXE3_ENST00000448843.2_Missense_Mutation_p.D685N|ALOXE3_ENST00000318227.3_Missense_Mutation_p.D817N Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 685 leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 TCCTGGATGTCCCTTGAGATC 0.632000 7 138 0 0 0.001984 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 63 0 0 0.000602 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85165178 85165178 + Silent SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr15:85165178G>A ENST00000448803.2 + 3 2044 c.1752G>A c.(1750-1752)aaG>aaA p.K584K ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Silent_p.K434K|ZSCAN2_ENST00000327179.6_Silent_p.K583K|ZSCAN2_ENST00000546148.1_Silent_p.K584K|ZSCAN2_ENST00000541040.1_Intron NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 584 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CTGGGGAGAAGCCCTACAAAT 0.483000 10 71 0 0 0.006214 0 0 SKIV2L 6499 broad.mit.edu 37 6 31931705 31931705 + Silent SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr6:31931705C>T ENST00000375394.2 + 16 1776 c.1663C>T c.(1663-1665)Ctg>Ttg p.L555L SKIV2L_ENST00000544581.1_Silent_p.L362L NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 555 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CGGAGTGTACCTGTCCCTCCT 0.622000 66 165 0 0 0.003610 0 0 NUAK2 81788 broad.mit.edu 37 1 205290569 205290569 + Missense_Mutation SNP G G A TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr1:205290569G>A ENST00000367157.3 - 1 314 c.188C>T c.(187-189)aCc>aTc p.T63I NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 63 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CTTCCCGTAGGTGCCTTTGCC 0.697000 7 42 0 0 0.004482 0 0 UPF3A 65110 broad.mit.edu 37 13 115048325 115048325 + Missense_Mutation SNP C C T TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr13:115048325C>T ENST00000375299.3 + 3 384 c.328C>T c.(328-330)Ctc>Ttc p.L110F UPF3A_ENST00000351487.5_Missense_Mutation_p.L110F NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 110 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) TTATCCTCATCTCTACTCAAG 0.343000 8 45 0 0 0.000978 0 0 HRNR 388697 broad.mit.edu 37 1 152188526 152188527 + Frame_Shift_Ins INS - - G rs145041332 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr1:152188526_152188527insG ENST00000368801.2 - 3 5653_5654 c.5578_5579insC c.(5578-5580)acafs p.T1860fs FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1860 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACCCATGTCGGCCACTGCTG 0.594 12 793 --- --- --- --- AASDH 132949 broad.mit.edu 37 4 57220269 57220269 + Frame_Shift_Del DEL A A - rs148777026 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr4:57220269delA ENST00000205214.6 - 8 1499 c.1319delT c.(1318-1320)tgfs p.L440fs AASDH_ENST00000451613.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.L340fs|AASDH_ENST00000602986.1_Frame_Shift_Del_p.L287fs|AASDH_ENST00000502617.1_Frame_Shift_Del_p.L440fs|AASDH_ENST00000434343.2_Intron NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 440 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding p.?(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TTTTCGTCCCAAAAAAAAAAT 0.363 8 48 --- --- --- --- HLA-V 352962 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 2 4 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T rs34551853 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr7:6621848_6621849insT ENST00000396706.2 + 5 779_780 c.336_337insT c.(334-339)ctttttfs p.LF112fs ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 7 256 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971048 21971058 + Frame_Shift_Del DEL GCCGCGCCCCG GCCGCGCCCCG - rs137854598 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr9:21971048_21971058delGCCGCGCCCCG ENST00000579755.1 - 2 635_645 c.343_353delCGGGGCGCGGC c.(343-354)tfs p.RGAA115fs CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.AGARL49fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.AGARL49fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.AGARL49fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.RGAA115fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.AGARL100fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.AGARL49fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.AGARL100fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.AGARL49fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.AGARL100fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.AGARL100fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.RGAA156fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 131 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.A102V(3)|p.G101G(3)|p.A102A(2)|p.A102E(2)|p.L104fs*42(2)|p.H83fs*2(2)|p.R103Q(1)|p.A102fs*18(1)|p.R103R(1)|p.A102P(1)|p.0(1)|p.R103fs*43(1)|p.T93_D105del(1)|p.G101W(1)|p.A68fs*3(1)|p.A102T(1)|p.G101fs*17(1)|p.A102fs*42(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGCACGTCCAGCCGCGCCCCGGCCCGGTGCA 0.758 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 38 --- --- --- --- NPIPB1P 729602 broad.mit.edu 37 18 11625378 11625379 + RNA INS - - A rs141097667 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr18:11625378_11625379insA ENST00000547442.1 - 0 621 CTCTTCCCCCGAAAAATGACAA 0.401 3 5 --- --- --- --- MAPRE1 22919 broad.mit.edu 37 20 31424527 31424528 + Frame_Shift_Del DEL TA TA - rs142135206 TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chr20:31424527_31424528delTA ENST00000375571.5 + 4 494_495 c.355_356delTA c.(355-357)tfs p.Y119fs NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 119 cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 CGATGCAAACTATGATGGAAAA 0.411 14 111 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152083334 152083334 + Frame_Shift_Del DEL A A - TCGA-CQ-6229-01A-11D-1912-08 TCGA-CQ-6229-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07e76152-9e83-42a5-9111-c39a2310a2e4 ab416480-3676-4775-92ba-fddf2deda045 g.chrX:152083334delA ENST00000535861.1 + 2 163 c.115delA c.(115-117)agfs p.K39fs ZNF185_ENST00000318504.7_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000539731.1_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000449285.2_Frame_Shift_Del_p.K39fs|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Frame_Shift_Del_p.K39fs NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 39 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) GAAGGGGGACAAGAGCTGGAT 0.607 2 4 --- --- --- ---