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 ADAM30 11085 broad.mit.edu 37 1 120438863 120438863 + Missense_Mutation SNP G G A TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr1:120438863G>A ENST00000369400.1 - 1 255 c.97C>T c.(97-99)Cac>Tac p.H33Y NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 33 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CCTTCAGGGTGAAAAATTACA 0.512000 42 18 0 0 0.104719 0 0 C3orf20 84077 broad.mit.edu 37 3 14731559 14731559 + Silent SNP C C T TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr3:14731559C>T ENST00000253697.3 + 5 1133 c.681C>T c.(679-681)taC>taT p.Y227Y C3orf20_ENST00000435614.1_Silent_p.Y105Y|C3orf20_ENST00000412910.1_Silent_p.Y105Y NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 227 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGCTGATCTACCACTCTTCCA 0.468000 11 61 0 0 0.080935 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092371 30092371 + RNA SNP C C T TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr18:30092371C>T ENST00000567636.1 + 0 746 NR_003558.1 CTTCTTGGGACGTGGTGTTCC 0.557000 21 38 0 0 0.062417 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161168 90161168 + RNA SNP T T G rs8055740 TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr16:90161168T>G ENST00000564451.1 + 0 894 TUBB8P7_ENST00000567960.1_RNA CCTCCTGTCCTCCGAGTCGAG 0.622000 3 12 0 0 0.021553 0 0 HYAL4 23553 broad.mit.edu 37 7 123516948 123516948 + Silent SNP C C T TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr7:123516948C>T ENST00000223026.4 + 5 1823 c.1185C>T c.(1183-1185)ccC>ccT p.P395P HYAL4_ENST00000476325.1_Silent_p.P395P NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 395 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 GGAACGCGCCCAGTTACCTTC 0.512000 57 82 0 0 0.139131 0 0 NGLY1 55768 broad.mit.edu 37 3 25761622 25761622 + Missense_Mutation SNP C C A TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr3:25761622C>A ENST00000428257.1 - 11 1725 c.1618G>T c.(1618-1620)Ggg>Tgg p.G540W NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.G558W|NGLY1_ENST00000396649.3_Intron|NGLY1_ENST00000417874.2_Missense_Mutation_p.G516W|NGLY1_ENST00000422724.2_3'UTR NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 558 PAW. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CCAACTGACCCACACTCAAAC 0.398000 17 121 4.75885e-15 5.71062e-15 0.033300 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899854 112899854 + Missense_Mutation SNP T T C TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr9:112899854T>C ENST00000374530.3 + 8 2210 c.2030T>C c.(2029-2031)gTg>gCg p.V677A PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V677A|AKAP2_ENST00000434623.2_Missense_Mutation_p.V535A|AKAP2_ENST00000374525.1_Missense_Mutation_p.V535A|AKAP2_ENST00000259318.7_Missense_Mutation_p.V446A|AKAP2_ENST00000555236.1_Missense_Mutation_p.V677A|AKAP2_ENST00000510514.5_Missense_Mutation_p.V677A NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 446 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 GTCCTCACTGTGGTCAAGGAT 0.527000 12 198 0 0 0.080935 0 0 DOPEY2 9980 broad.mit.edu 37 21 37653832 37653832 + Missense_Mutation SNP T T C TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr21:37653832T>C ENST00000399151.3 + 32 6168 c.6083T>C c.(6082-6084)aTg>aCg p.M2028T NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 2028 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CAGAAAGCCATGCTGTTAAAG 0.393000 40 67 0 0 0.086207 0 0 SMARCA5 8467 broad.mit.edu 37 4 144457701 144457701 + Silent SNP A A G TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr4:144457701A>G ENST00000283131.3 + 11 1827 c.1365A>G c.(1363-1365)aaA>aaG p.K455K NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 455 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) AGTTGAGAAAATGTTGTAATC 0.373000 8 108 0 0 0.047766 0 0 FERMT1 55612 broad.mit.edu 37 20 6060186 6060186 + Missense_Mutation SNP G G A TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr20:6060186G>A ENST00000217289.4 - 14 2545 c.1757C>T c.(1756-1758)tCa>tTa p.S586L FERMT1_ENST00000536936.1_Missense_Mutation_p.S329L|FERMT1_ENST00000478194.1_5'UTR NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 586 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 CCTGTTATATGAAACTCCCAG 0.363000 7 152 0 0 0.038147 0 0 GLDC 2731 broad.mit.edu 37 9 6592871 6592871 + Missense_Mutation SNP G G A TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr9:6592871G>A ENST00000321612.6 - 10 1531 c.1381C>T c.(1381-1383)Cgg>Tgg p.R461W NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 461 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TCAAAAAGCCGAAAATTGATC 0.403000 5 104 0 0 0.014758 0 0 LOC101927905 101927905 broad.mit.edu 37 12 8388326 8388326 + RNA SNP G G C rs113732517 TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr12:8388326G>C ENST00000304751.9 + 0 316 FAM86FP_ENST00000427893.2_RNA CGAGCCTCCCGAGGGCTGCAC 0.577000 8 34 0 0 0.047766 0 0 TSGA13 114960 broad.mit.edu 37 7 130357610 130357610 + Missense_Mutation SNP G G A TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr7:130357610G>A ENST00000456951.1 - 7 1345 c.494C>T c.(493-495)tCg>tTg p.S165L TSGA13_ENST00000356588.3_Missense_Mutation_p.S165L Q96PP4 TSG13_HUMAN testis specific, 13 165 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) GGGATCATCCGACAGTATCAA 0.433000 45 74 0 0 0.139131 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074504 76074504 + RNA SNP C C T rs146281026 by1000genomes TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr15:76074504C>T ENST00000395215.3 + 0 683 TGAACGCACACGTGACACAGG 0.572000 3 29 0 0 0.115264 0 0 SUCLA2 8803 broad.mit.edu 37 13 48528324 48528324 + Missense_Mutation SNP G G A TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr13:48528324G>A ENST00000378654.3 - 8 1114 c.1058C>T c.(1057-1059)aCa>aTa p.T353I SUCLA2_ENST00000543413.1_Missense_Mutation_p.T295I|SUCLA2_ENST00000544100.1_Missense_Mutation_p.T219I|SUCLA2_ENST00000534875.1_Missense_Mutation_p.T295I NM_003850.2 NP_003841.1 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 353 succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) TTGATGGACTGTAGCACCACC 0.358000 7 124 0 0 0.029380 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803702 142803702 + RNA SNP A A T TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr1:142803702A>T ENST00000423385.1 - 0 1263 ccatcataacatctgtgttcc 0.338000 4 33 0 0 0.009096 0 0 POU6F2 11281 broad.mit.edu 37 7 39500263 39500263 + Missense_Mutation SNP A A G TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr7:39500263A>G ENST00000518318.2 + 9 1562 c.1520A>G c.(1519-1521)cAg>cGg p.Q507R POU6F2_ENST00000403058.1_Missense_Mutation_p.Q507R|POU6F2_ENST00000559001.1_Missense_Mutation_p.Q452R P78424 PO6F2_HUMAN POU class 6 homeobox 2 507 POU-specific. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q507L(1)|p.Q507R(1) NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CAGGTGGGACAGGCTCTCAGT 0.602000 5 13 0 0 0.014758 0 0 NUP62CL 54830 broad.mit.edu 37 X 106397335 106397335 + Missense_Mutation SNP A A C TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chrX:106397335A>C ENST00000372466.4 - 5 587 c.336T>G c.(334-336)aaT>aaG p.N112K NUP62CL_ENST00000372461.3_Intron NM_017681.2 NP_060151.2 Q9H1M0 N62CL_HUMAN nucleoporin 62kDa C-terminal like 112 protein transport nuclear pore structural constituent of nuclear pore lung(4) 4 CCATCTCACCATTCTCAATCA 0.378000 11 79 0 0 0.080935 0 0 TRPM4 54795 broad.mit.edu 37 19 49669420 49669420 + Missense_Mutation SNP C C A TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr19:49669420C>A ENST00000252826.5 + 3 341 c.215C>A c.(214-216)aCc>aAc p.T72N TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.T72N NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 72 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GAGAAGCCCACCGATGCCTAC 0.716000 9 4 0.000274275 0.00030856 0.047766 1 0 SCUBE2 57758 broad.mit.edu 37 11 9077430 9077430 + Missense_Mutation SNP T T A TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr11:9077430T>A ENST00000457346.2 - 10 1191 c.1117A>T c.(1117-1119)Acc>Tcc p.T373S SCUBE2_ENST00000450649.2_Missense_Mutation_p.T373S|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.T373S|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T373S Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 373 EGF-like 8; calcium-binding (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) TGGTCACAGGTCCTATCCAAA 0.502000 16 217 0 0 0.146539 0 0 GAN 8139 broad.mit.edu 37 16 81391531 81391531 + Nonsense_Mutation SNP C C A TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr16:81391531C>A ENST00000248272.3 + 5 1130 c.968C>A c.(967-969)tCa>tAa p.S323* NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin 323 cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) GGAGTTCTCTCAGCAGGTACC 0.448000 42 73 3.76604e-16 4.67508e-16 0.117977 1 0 CCKBR 887 broad.mit.edu 37 11 6292569 6292569 + Silent SNP C C T rs138218747 byFrequency TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr11:6292569C>T ENST00000525462.1 + 4 1350 c.1347C>T c.(1345-1347)taC>taT p.Y449Y CCKBR_ENST00000532715.1_Silent_p.Y296Y|CCKBR_ENST00000334619.2_Silent_p.Y380Y P32239 GASR_HUMAN cholecystokinin B receptor 380 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TGCTGAGCTACGCCTCGGCCT 0.622000 46 132 0 0 0.124865 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299313 125299313 + Missense_Mutation SNP C C T TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chrX:125299313C>T ENST00000538699.1 - 2 675 c.595G>A c.(595-597)Gca>Aca p.A199T DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A199T NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 199 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CAGGCGACTGCGAAGATCCAG 0.652000 40 35 0 0 0.117977 0 0 TMC3 342125 broad.mit.edu 37 15 81637115 81637115 + Missense_Mutation SNP C C T TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr15:81637115C>T ENST00000558726.1 - 13 1648 c.1513G>A c.(1513-1515)Gtt>Att p.V505I RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.V504I Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 504 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 ACCTGACCAACGTATGTCTCC 0.478000 5 66 0 0 0.014758 0 0 AHSA1 10598 broad.mit.edu 37 14 77935516 77935516 + Missense_Mutation SNP G G T TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr14:77935516G>T ENST00000216479.3 + 9 1101 c.941G>T c.(940-942)cGg>cTg p.R314L AHSA1_ENST00000555457.1_3'UTR NM_012111.2 NP_036243.1 O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 314 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GAGGAAGAGCGGACGCGACAG 0.577000 58 221 1.44317e-28 1.8555e-28 0.139131 1 0 PJA2 9867 broad.mit.edu 37 5 108698654 108698654 + Missense_Mutation SNP A A C TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr5:108698654A>C ENST00000361189.2 - 6 1778 c.1539T>G c.(1537-1539)agT>agG p.S513R PJA2_ENST00000361557.3_Missense_Mutation_p.S513R NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 513 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) TTCCCTCATCACTGCTGCTTT 0.408000 32 120 0 0 0.059317 0 0 SLC24A2 25769 broad.mit.edu 37 9 19520958 19520960 + In_Frame_Del DEL CGG CGG - TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr9:19520958_19520960delCGG ENST00000341998.2 - 9 1729_1731 c.1668_1670delCCG c.(1666-1671)gcg>gc p.AR556del SLC24A2_ENST00000286344.3_In_Frame_Del_p.AR539del NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 556 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TAACCCCTTCCGGGCCACTATGA 0.507 10 101 --- --- --- --- USP15 9958 broad.mit.edu 37 12 62708660 62708662 + In_Frame_Del DEL TGT TGT - TCGA-B2-3923-01A-01D-1458-08 TCGA-B2-3923-10A-01D-1458-08 Untested Somatic Phase_I WXS none Illumina GAIIx 055b5dbe-6a29-4ad7-87ce-1b8c4c1211b4 d7f13006-b937-472c-a6cb-5dd7104e7a2f g.chr12:62708660_62708662delTGT ENST00000280377.5 + 4 496_498 c.438_440delTGT c.(436-441)aat>aa p.NV146del USP15_ENST00000393654.3_In_Frame_Del_p.NV146del|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_In_Frame_Del_p.NV146del|USP15_ENST00000353364.3_In_Frame_Del_p.NV146del NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 146 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ACATGAATAATGTTGTAACTCGA 0.315 134 246 --- --- --- ---