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 NDUFS3 4722 broad.mit.edu 37 11 47603718 47603718 + Missense_Mutation SNP G G C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr11:47603718G>C ENST00000263774.4 + 5 542 c.460G>C c.(460-462)Gag>Cag p.E154Q NDUFS3_ENST00000533507.1_3'UTR NM_004551.2 NP_004542.1 O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 154 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) GACGCCCATTGAGTCTGCTGT 0.522000 6 75 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170216549 170216549 + Silent SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:170216549C>T ENST00000231706.4 - 4 981 c.666G>A c.(664-666)ctG>ctA p.L222L CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 222 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCCATACTGCCAGGTTCAGCA 0.517000 3 42 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29688155 29688155 + Silent SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:29688155C>T ENST00000397938.2 + 10 1361 c.1042C>T c.(1042-1044)Cta>Tta p.L348L EWSR1_ENST00000331029.7_Intron|EWSR1_ENST00000414183.2_Silent_p.L353L|EWSR1_ENST00000332035.6_Silent_p.L292L|EWSR1_ENST00000332050.6_Silent_p.L275L|EWSR1_ENST00000406548.1_Silent_p.L347L NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 348 Breakpoint for insertion to form EWSR1- FEV fusion protein. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGATCTTGATCTAGGTAATTT 0.388000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 25 34 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43603548 43603548 + Missense_Mutation SNP T T A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:43603548T>A ENST00000360835.3 - 21 2932 c.2806A>T c.(2806-2808)Att>Ttt p.I936F NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 936 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) ACTTTCAAAATTTCCTGGTGG 0.607000 11 184 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38329058 38329058 + Silent SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38329058G>A ENST00000215957.6 + 13 2373 c.2247G>A c.(2245-2247)caG>caA p.Q749Q MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 749 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TCAAGCAGCAGAACCTGGAGC 0.602000 54 90 0 0 1 0 0 ZFP14 57677 broad.mit.edu 37 19 36832163 36832163 + Nonsense_Mutation SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr19:36832163G>A ENST00000270001.7 - 5 680 c.565C>T c.(565-567)Caa>Taa p.Q189* NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) CTCAGGTGTTGACTAAGTGTT 0.408000 12 92 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152623200 152623200 + Splice_Site SNP T T C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr6:152623200T>C ENST00000367255.5 - 92 17948 c.e92-2 SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CGCCAGCTCCTGAGGAAACAT 0.532000 HNSCC(10;0.0054) 23 32 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84634218 84634218 + Missense_Mutation SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chrX:84634218G>A ENST00000262753.4 - 2 387 c.242C>T c.(241-243)aCc>aTc p.T81I POF1B_ENST00000373145.3_Missense_Mutation_p.T81I NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 81 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GTAGGAGGAGGTGGTTTTGAG 0.507000 5 10 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87810828 87810828 + Missense_Mutation SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr7:87810828G>A ENST00000398204.4 + 27 2632 c.2309G>A c.(2308-2310)gGg>gAg p.G770E ADAM22_ENST00000398209.3_Missense_Mutation_p.G770E|ADAM22_ENST00000265727.7_Missense_Mutation_p.G806E|ADAM22_ENST00000315984.7_Missense_Mutation_p.G770E|ADAM22_ENST00000398201.4_Missense_Mutation_p.G806E NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 806 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AGGTCAAATGGGCTCTCTCAT 0.368000 17 21 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36124892 36124892 + Missense_Mutation SNP C C G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:36124892C>G ENST00000249044.2 + 4 1249 c.1249C>G c.(1249-1251)Cca>Gca p.P417A NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 417 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CCAGCCAGCCCCACCAGCACC 0.627000 4 62 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62663321 62663321 + Missense_Mutation SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr20:62663321G>A ENST00000535781.1 + 19 2588 c.2477G>A c.(2476-2478)cGc>cAc p.R826H ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 866 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) TGGTTCCACCGCACTGTGAAG 0.592000 4 109 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110827615 110827615 + Missense_Mutation SNP C C A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr13:110827615C>A ENST00000375820.4 - 37 3269 c.3148G>T c.(3148-3150)Ggg>Tgg p.G1050W NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1050 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGCCTGCCCTTTCTCTCCT 0.572000 5 30 8.12818e-05 8.40372e-05 1 1 0 HCRTR2 3062 broad.mit.edu 37 6 55147214 55147214 + Missense_Mutation SNP C C A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr6:55147214C>A ENST00000370862.3 + 7 1633 c.1297C>A c.(1297-1299)Cca>Aca p.P433T NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 433 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAGCACACTCCCAGCAGCCAA 0.408000 3 23 2.56e-06 2.69241e-06 1 1 0 MICALL1 85377 broad.mit.edu 37 22 38328830 38328830 + Silent SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328830G>A ENST00000215957.6 + 12 2295 c.2169G>A c.(2167-2169)gtG>gtA p.V723V MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 723 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) ACATGCTGGTGGACTGGTTCA 0.622000 30 70 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974838 49974838 + Silent SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr11:49974838G>A ENST00000555099.1 + 1 896 c.864G>A c.(862-864)agG>agA p.R288R NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ACACCTTGAGGAATGCTCAAA 0.383000 24 54 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284445 118284445 + Missense_Mutation SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chrX:118284445C>T ENST00000402510.2 - 1 97 c.98G>A c.(97-99)cGa>cAa p.R33Q NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 33 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CCTGGCCCCTCGGTCCCTGGG 0.602000 26 10 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48388513 48388513 + Missense_Mutation SNP A A T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr10:48388513A>T ENST00000224600.4 - 1 2478 c.2365T>A c.(2365-2367)Tac>Aac p.Y789N NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 789 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GCCGTGGAGTAGCTGCCAGGG 0.617000 13 4 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12224814 12224814 + RNA SNP C C G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:12224814C>G ENST00000432424.2 + 0 1483 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 TCTTCCAGAGCGGAACACTTA 0.488000 4 9 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86416245 86416245 + Silent SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr7:86416245C>T ENST00000361669.2 + 3 2236 c.1137C>T c.(1135-1137)atC>atT p.I379I GRM3_ENST00000394720.2_Silent_p.I377I|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.I379I|GRM3_ENST00000536043.1_Silent_p.I251I NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 379 synaptic transmission integral to plasma membrane p.I379M(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACCTGGCCATCGACAGCAGCA 0.567000 29 7 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38328629 38328629 + Missense_Mutation SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328629G>A ENST00000215957.6 + 11 2212 c.2086G>A c.(2086-2088)Gat>Aat p.D696N MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 696 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GCGCCGGCTGGATGCCCTGGA 0.672000 13 65 0 0 1 0 0 CYP20A1 57404 broad.mit.edu 37 2 204154579 204154579 + Nonsense_Mutation SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr2:204154579C>T ENST00000356079.4 + 10 1186 c.1063C>T c.(1063-1065)Cga>Tga p.R355* CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Nonsense_Mutation_p.R363* NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 355 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 AAAAATTGACCGATTTATTAT 0.333000 13 26 0 0 1 0 0 SULT4A1 25830 broad.mit.edu 37 22 44221895 44221895 + Missense_Mutation SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:44221895C>T ENST00000330884.4 - 7 961 c.841G>A c.(841-843)Gac>Aac p.D281N SULT4A1_ENST00000540422.1_Missense_Mutation_p.D168N NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 281 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) AAATAAAAGTCAAACGTGAGG 0.413000 139 271 0 0 1 0 0 OMG 4974 broad.mit.edu 37 17 29622049 29622049 + Missense_Mutation SNP A A G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr17:29622049A>G ENST00000247271.4 - 2 1562 c.1301T>C c.(1300-1302)gTt>gCt p.V434A NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron NM_002544.4 NP_002535.3 P23515 OMGP_HUMAN oligodendrocyte myelin glycoprotein 434 cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane p.0?(8)|p.?(3) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1) 13 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) CATGACCACAACATTGAGCAA 0.408000 7 41 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117246759 117246759 + Nonsense_Mutation SNP G G T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr6:117246759G>T ENST00000332958.2 + 16 1838 c.1822G>T c.(1822-1824)Gga>Tga p.G608* NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 608 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CAGTCAACCTGGAGGCCTAGG 0.547000 7 26 0.0293803 0.0293803 1 1 0 MICALL1 85377 broad.mit.edu 37 22 38328584 38328584 + Missense_Mutation SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328584G>A ENST00000215957.6 + 11 2167 c.2041G>A c.(2041-2043)Gag>Aag p.E681K MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 681 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GTACATCCCTGAGGAGGACAT 0.632000 29 93 0 0 1 0 0 CNRIP1 25927 broad.mit.edu 37 2 68544407 68544407 + Missense_Mutation SNP A A C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr2:68544407A>C ENST00000263655.3 - 2 817 c.212T>G c.(211-213)cTg>cGg p.L71R CNRIP1_ENST00000409559.3_Missense_Mutation_p.L71R|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Missense_Mutation_p.L71R NM_015463.2 NP_056278.1 Q96F85 CNRP1_HUMAN cannabinoid receptor interacting protein 1 71 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 CTTCAGTTCCAGTGGGACAAG 0.483000 9 40 0 0 1 0 0 MDFIC 29969 broad.mit.edu 37 7 114619817 114619817 + Missense_Mutation SNP G G C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr7:114619817G>C ENST00000393486.1 + 4 1064 c.474G>C c.(472-474)aaG>aaC p.K158N MDFIC_ENST00000257724.3_Missense_Mutation_p.K267N NM_001166345.1|NM_199072.4 NP_001159817.1|NP_951038.1 Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 158 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 TTTCCCAAAAGACAGGCTCTT 0.328000 13 56 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18627601 18627601 + Missense_Mutation SNP A A G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chrX:18627601A>G ENST00000379989.3 + 15 2348 c.2063A>G c.(2062-2064)gAc>gGc p.D688G CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.D688G NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 688 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) GTGTATCATGACCCACACTCT 0.438000 32 3 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46679259 46679259 + Nonsense_Mutation SNP C C A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr6:46679259C>A ENST00000274793.7 - 7 833 c.637G>T c.(637-639)Gag>Tag p.E213* PLA2G7_ENST00000537365.1_Nonsense_Mutation_p.E213*|PLA2G7_ENST00000541026.1_Nonsense_Mutation_p.E86*|PLA2G7_ENST00000538237.1_Nonsense_Mutation_p.E168* NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 213 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TGTGTCTCCTCCTCTTGTTTC 0.408000 24 53 3.5997e-14 3.99239e-14 1 1 0 GRAMD4 23151 broad.mit.edu 37 22 47022726 47022726 + Missense_Mutation SNP C C G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:47022726C>G ENST00000406902.1 + 2 243 c.30C>G c.(28-30)ttC>ttG p.F10L GRAMD4_ENST00000361034.3_Missense_Mutation_p.F10L Q6IC98 GRAM4_HUMAN GRAM domain containing 4 10 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AAATCAGGTTCAGAGGTCACA 0.552000 46 206 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32740400 32740400 + Silent SNP G G T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr1:32740400G>T ENST00000333070.4 + 3 268 c.168G>T c.(166-168)ccG>ccT p.P56P LCK_ENST00000336890.5_Silent_p.P56P|LCK_ENST00000373564.3_Silent_p.P56P NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 56 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GCTCCAATCCGCCGGCTTCCC 0.617000 T TRB@ T-ALL 11 16 6.42651e-13 7.00031e-13 1 1 0 GANC 2595 broad.mit.edu 37 15 42632949 42632949 + Silent SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr15:42632949C>T ENST00000318010.8 + 18 2389 c.2149C>T c.(2149-2151)Ctg>Ttg p.L717L NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 717 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TGAATACATGCTGGGTGAGCA 0.403000 18 26 0 0 1 0 0 GPR20 2843 broad.mit.edu 37 8 142367699 142367699 + Missense_Mutation SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr8:142367699G>A ENST00000377741.3 - 2 415 c.325C>T c.(325-327)Cgc>Tgc p.R109C NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 109 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) ACAGCGAAGCGCGTGGGCAGG 0.617000 17 68 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 3 21 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38328608 38328608 + Missense_Mutation SNP G G A rs142424154 TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328608G>A ENST00000215957.6 + 11 2191 c.2065G>A c.(2065-2067)Gat>Aat p.D689N MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 689 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TGGAGAGATGGATACCATTGA 0.657000 21 81 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57181813 57181813 + Silent SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr4:57181813C>T ENST00000504228.1 + 6 2250 c.2145C>T c.(2143-2145)gtC>gtT p.V715V KIAA1211_ENST00000264229.6_Silent_p.V715V|KIAA1211_ENST00000541073.1_Silent_p.V708V Q6ZU35 K1211_HUMAN KIAA1211 715 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CTCCGCCAGTCAATGCAAAGT 0.572000 11 86 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20585751 20585751 + Silent SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr14:20585751C>T ENST00000315543.4 + 1 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TTGCCCTCTTCTCGGTTATCT 0.413000 8 117 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40468888 40468888 + Missense_Mutation SNP C C A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:40468888C>A ENST00000301825.3 + 11 1597 c.1479C>A c.(1477-1479)ttC>ttA p.F493L ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.F493L|ENTPD3-AS1_ENST00000452768.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 493 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) CCCTCGCTTTCTTCACAGCGG 0.547000 17 29 9.16793e-09 9.81129e-09 1 1 0 APOL5 80831 broad.mit.edu 37 22 36116679 36116679 + Silent SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:36116679G>A ENST00000249044.2 + 2 120 c.120G>A c.(118-120)ggG>ggA p.G40G NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 40 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 AGGTCTGGGGGAAGTCCccag 0.512000 3 15 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059510 9059510 + Silent SNP C C G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr19:9059510C>G ENST00000397910.4 - 3 28139 c.27936G>C c.(27934-27936)gtG>gtC p.V9312V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9314 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACCAGTGGGCACACTAGAAA 0.502000 5 82 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38328586 38328586 + Silent SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328586G>A ENST00000215957.6 + 11 2169 c.2043G>A c.(2041-2043)gaG>gaA p.E681E MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 681 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) ACATCCCTGAGGAGGACATCC 0.637000 29 94 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566384 41566384 + Missense_Mutation SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr8:41566384G>A ENST00000396942.1 - 17 1993 c.1910C>T c.(1909-1911)aCg>aTg p.T637M ANK1_ENST00000396945.1_Missense_Mutation_p.T637M|ANK1_ENST00000352337.4_Missense_Mutation_p.T637M|ANK1_ENST00000347528.4_Missense_Mutation_p.T637M|ANK1_ENST00000289734.7_Missense_Mutation_p.T637M|ANK1_ENST00000379758.2_Missense_Mutation_p.T637M|ANK1_ENST00000265709.8_Missense_Mutation_p.T670M P16157 ANK1_HUMAN ankyrin 1, erythrocytic 637 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGAAGGGGCGTCACACCTTG 0.622000 30 59 0 0 1 0 0 SYNGR1 9145 broad.mit.edu 37 22 39770401 39770401 + Silent SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:39770401C>T ENST00000328933.5 + 2 195 c.180C>T c.(178-180)atC>atT p.I60I SYNGR1_ENST00000318801.4_Silent_p.I60I|SYNGR1_ENST00000216155.7_Silent_p.I60I|SYNGR1_ENST00000406293.3_Silent_p.I60I|SYNGR1_ENST00000381535.4_Silent_p.I61I NM_004711.4 NP_004702.2 synaptogyrin 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) AGTTCTGCATCTACAACCGCA 0.642000 85 129 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238245160 238245160 + Silent SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr2:238245160G>A ENST00000295550.4 - 40 9035 c.8583C>T c.(8581-8583)aaC>aaT p.N2861N COL6A3_ENST00000353578.4_Silent_p.N2655N|COL6A3_ENST00000347401.3_Silent_p.N2660N|COL6A3_ENST00000346358.4_Silent_p.N2661N|COL6A3_ENST00000472056.1_Silent_p.N2254N|COL6A3_ENST00000409809.1_Silent_p.N2655N NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2861 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTGAAGTAACGTTATTCGGAA 0.398000 39 28 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55396865 55396865 + Missense_Mutation SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr19:55396865C>T ENST00000355524.3 + 3 299 c.289C>T c.(289-291)Cgc>Tgc p.R97C FCAR_ENST00000359272.4_Missense_Mutation_p.R85C|FCAR_ENST00000345937.4_Missense_Mutation_p.R97C|FCAR_ENST00000469767.1_Missense_Mutation_p.R97C|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391723.3_Missense_Mutation_p.R85C|FCAR_ENST00000391724.3_Missense_Mutation_p.R85C|FCAR_ENST00000391725.3_Missense_Mutation_p.R97C|FCAR_ENST00000391726.3_Missense_Mutation_p.R85C NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 97 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.R97G(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CAAGGCAGGGCGCTATCAGTG 0.502000 6 15 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3189774 3189774 + Missense_Mutation SNP C C G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr10:3189774C>G ENST00000380989.2 - 19 2266 c.2228G>C c.(2227-2229)gGg>gCg p.G743A PITRM1_ENST00000224949.4_Missense_Mutation_p.G742A|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.G644A|PITRM1_ENST00000380994.1_Missense_Mutation_p.G300A NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 644 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 CTGATCCATCCCGCTGAAGGT 0.527000 10 87 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36116626 36116626 + Missense_Mutation SNP G G C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:36116626G>C ENST00000249044.2 + 2 67 c.67G>C c.(67-69)Ggt>Cgt p.G23R NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 23 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CTTGGGAGAAGGTTGTAAAGA 0.502000 8 19 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32994926 32994926 + Silent SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:32994926G>A ENST00000330953.5 + 2 180 c.12G>A c.(10-12)acG>acA p.T4T NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 4 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TGAACCCCACGGATATAGCAG 0.468000 6 20 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50365526 50365526 + Missense_Mutation SNP G G A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr19:50365526G>A ENST00000322344.3 - 12 1151 c.1042C>T c.(1042-1044)Cgc>Tgc p.R348C PNKP_ENST00000600910.1_Missense_Mutation_p.R348C|PNKP_ENST00000596014.1_Missense_Mutation_p.R348C|PNKP_ENST00000600573.1_Missense_Mutation_p.R317C NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 348 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GGCCCTGAGCGGGAGACAGTC 0.716000 Other BER factors 6 3 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175092773 175092773 + Missense_Mutation SNP A A C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr1:175092773A>C ENST00000239462.4 + 12 3001 c.2888A>C c.(2887-2889)aAg>aCg p.K963T NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 963 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGGAGAGCAAGAAGGCTGAC 0.622000 14 25 0 0 1 0 0 UTY 7404 broad.mit.edu 37 Y 15469761 15469761 + Nonsense_Mutation SNP A A T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chrY:15469761A>T ENST00000331397.4 - 13 2281 c.1274T>A c.(1273-1275)tTa>tAa p.L425* UTY_ENST00000545955.1_Nonsense_Mutation_p.L500*|UTY_ENST00000540140.1_Nonsense_Mutation_p.L422*|UTY_ENST00000538878.1_Nonsense_Mutation_p.L392*|UTY_ENST00000537580.1_Nonsense_Mutation_p.L470*|UTY_ENST00000382896.4_Nonsense_Mutation_p.L470*|UTY_ENST00000362096.4_Nonsense_Mutation_p.L425*|UTY_ENST00000329134.5_Nonsense_Mutation_p.L425* NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked 425 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 TCATACCTGTAATTTCTGTGG 0.343000 8 2 0 0 1 0 0 PPAP2B 8613 broad.mit.edu 37 1 57002733 57002733 + Missense_Mutation SNP C C T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr1:57002733C>T ENST00000371250.3 - 2 742 c.191G>A c.(190-192)cGa>cAa p.R64Q NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 64 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GTAAAACCCTCGGTGGTAAGG 0.488000 15 28 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395674 49395679 + In_Frame_Del DEL GCCGCC GCCGCC - rs56041243 TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:49395674_49395679delGCCGCC ENST00000419783.1 - 1 354_359 c.33_38delGGCGGC c.(31-39)gcc>gc p.AAA11del GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.AAA11del NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 11 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding p.A12_A13delAA(1) breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CACCGACTGGgccgccgccgccgccg 0.694 3 4 --- --- --- --- LOC101927237 101927237 broad.mit.edu 37 4 68311853 68311855 + RNA DEL GAG GAG - TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr4:68311853_68311855delGAG ENST00000502400.1 - 0 34 TCTCTATGGCGAGGAGGAGGAGG 0.547 2 4 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16764407 16764408 + Frame_Shift_Ins INS - - T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr5:16764407_16764408insT ENST00000513610.1 - 12 1731_1732 c.1277_1278insA c.(1276-1278)gttfs p.V426fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 426 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TAGACTTGAAGTCCTCATTGCC 0.470 11 1091 --- --- --- --- HR 55806 broad.mit.edu 37 8 21977633 21977633 + Frame_Shift_Del DEL C C - TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr8:21977633delC ENST00000381418.4 - 13 4310 c.2830delG c.(2830-2832)atfs p.D944fs HR_ENST00000312841.8_Frame_Shift_Del_p.D944fs NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 944 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GTGTCCTCATCCCCCAAAGCT 0.657 2 4 --- --- --- --- OVOS2 144203 broad.mit.edu 37 12 31270080 31270081 + RNA INS - - AAA rs112314315 TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr12:31270080_31270081insAAA ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CGTTAAACTGGATCTCACTGGA 0.505 6 7 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112622883 112622885 + In_Frame_Del DEL GAG GAG - TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr12:112622883_112622885delGAG ENST00000550722.1 - 61 9842_9844 c.9447_9449delCTC c.(9445-9450)tcg>tc p.SS3151del HECTD4_ENST00000430131.2_In_Frame_Del_p.SS2875del|HECTD4_ENST00000377560.5_In_Frame_Del_p.SS3125del NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGGGGAGGACGAGGAGGAGGAGG 0.601 2 4 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29527570 29527571 + Frame_Shift_Ins INS - - T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr17:29527570_29527571insT ENST00000358273.4 + 9 1402_1403 c.1019_1020insT c.(1018-1020)tgtfs p.C340fs NF1_ENST00000431387.4_Frame_Shift_Ins_p.C340fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.C340fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 340 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(6) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GAAGATAACTCTGTCATTTTCC 0.381 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 12 20 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21142442 21142442 + RNA DEL A A - rs113752643 TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr20:21142442delA ENST00000591761.1 - 0 5142 RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA TCATTTCTGGAAAAAAAAAAA 0.363 2 4 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26114629 26114629 + RNA DEL C C - TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr20:26114629delC ENST00000416563.1 - 0 160 AATGCCAATACAACCAGTCAC 0.642 2 4 --- --- --- ---