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 PDS5A 23244 broad.mit.edu 37 4 39978175 39978175 + Missense_Mutation SNP T T C TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr4:39978175T>C ENST00000303538.8 - 2 562 c.23A>G c.(22-24)aAg>aGg p.K8R PDS5A_ENST00000503396.1_Missense_Mutation_p.K8R NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 8 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 AGTGGCAGGCTTGGGCTGCGC 0.587000 OREG0016159 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 68 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57864213 57864213 + Missense_Mutation SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr12:57864213C>T ENST00000228682.2 + 12 1781 c.1690C>T c.(1690-1692)Cct>Tct p.P564S GLI1_ENST00000546141.1_Missense_Mutation_p.P523S|GLI1_ENST00000543426.1_Missense_Mutation_p.P436S NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 564 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CCTGGCCTCTCCTTTCCCCCC 0.647000 5 42 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46554093 46554093 + Missense_Mutation SNP A A C TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr13:46554093A>C ENST00000242848.4 - 11 2115 c.1767T>G c.(1765-1767)aaT>aaG p.N589K ZC3H13_ENST00000282007.3_Missense_Mutation_p.N589K Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 589 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) GATAGTTGCTATTACTACTGT 0.383000 4 58 0 0 1 0 0 HDAC3 8841 broad.mit.edu 37 5 141005259 141005259 + Missense_Mutation SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr5:141005259G>A ENST00000305264.3 - 13 1131 c.1052C>T c.(1051-1053)tCa>tTa p.S351L AC008781.7_ENST00000422040.1_RNA|HDAC3_ENST00000469207.1_Intron NM_003883.3 NP_003874.2 O15379 HDAC3_HUMAN histone deacetylase 3 351 anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) GACCTGGCGTGAGTTCTGATT 0.498000 7 43 0 0 1 0 0 TCEB3CL 728929 broad.mit.edu 37 18 44549171 44549171 + Silent SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr18:44549171G>A ENST00000451265.1 - 1 1363 c.1128C>T c.(1126-1128)taC>taT p.Y376Y KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 TCTCTGTGCGGTACGGCTGAT 0.577000 12 397 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 5 73 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207850913 207850913 + Splice_Site SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr1:207850913C>T ENST00000508064.2 + 2 337 c.277_splice c.e2+1 p.R93_splice CR1L_ENST00000530905.1_3'UTR NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 93 Sushi 1. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CAAGTGCAAACGTAAGTAACT 0.398000 12 91 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801953 24801953 + Missense_Mutation SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr16:24801953G>A ENST00000395799.3 + 6 2119 c.1990G>A c.(1990-1992)Gcc>Acc p.A664T TNRC6A_ENST00000315183.7_Missense_Mutation_p.A664T NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 664 Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) CAGTGTGTGGGCCAAAACAGG 0.463000 3 33 0 0 1 0 0 WBP1L 54838 broad.mit.edu 37 10 104572793 104572793 + Missense_Mutation SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr10:104572793G>A ENST00000369889.4 + 4 876 c.734G>A c.(733-735)cGc>cAc p.R245H WBP1L_ENST00000448841.1_Missense_Mutation_p.R266H NM_017787.4 NP_060257.4 Q9NX94 OPA1L_HUMAN WW domain binding protein 1-like 245 integral to membrane AGACATCGCCGCTTCACAGGT 0.542000 4 77 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 8 49 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99132862 99132862 + Missense_Mutation SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr10:99132862C>T ENST00000370992.4 - 18 2233 c.2122G>A c.(2122-2124)Gcc>Acc p.A708T RRP12_ENST00000315563.6_Missense_Mutation_p.A608T|RRP12_ENST00000536831.1_Missense_Mutation_p.A426T|RRP12_ENST00000414986.1_Missense_Mutation_p.A647T|RRP12_ENST00000479481.1_5'UTR NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 708 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CGGCGAGGGGCTGGAGTGTCC 0.607000 4 40 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581529 40581529 + Missense_Mutation SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr19:40581529C>T ENST00000450241.2 - 6 1029 c.718G>A c.(718-720)Gta>Ata p.V240I ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA O75290 Z780A_HUMAN zinc finger protein 780A 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TATGGTTTTACACCAGAATGA 0.388000 5 263 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 73 0.00909568 0.0093024 1 1 0 ATP2A1 487 broad.mit.edu 37 16 28911948 28911948 + Missense_Mutation SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr16:28911948G>A ENST00000395503.4 + 15 1995 c.1811G>A c.(1810-1812)cGc>cAc p.R604H ATP2A1_ENST00000536376.1_Missense_Mutation_p.R479H|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R604H NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 604 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GACCCTCCGCGCAAGGAGGTC 0.622000 3 56 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155732049 155732049 + Missense_Mutation SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr1:155732049C>T ENST00000437809.1 - 23 4965 c.4843G>A c.(4843-4845)Gac>Aac p.D1615N GON4L_ENST00000271883.5_Missense_Mutation_p.D1615N|GON4L_ENST00000368331.1_Missense_Mutation_p.D1615N Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1615 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCGAGAATGTCCTCATCATAC 0.552000 3 25 0 0 1 0 0 TCEB3CL 728929 broad.mit.edu 37 18 44549172 44549172 + Missense_Mutation SNP T T C TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr18:44549172T>C ENST00000451265.1 - 1 1362 c.1127A>G c.(1126-1128)tAc>tGc p.Y376C KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 CTCTGTGCGGTACGGCTGATC 0.577000 12 404 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 3 30 0.115264 0.115264 1 1 0 TM4SF4 7104 broad.mit.edu 37 3 149192703 149192703 + Silent SNP C C G TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr3:149192703C>G ENST00000305354.4 + 1 943 c.39C>G c.(37-39)acC>acG p.T13T NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 13 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TGGGGGGGACCCTCATTCCCC 0.527000 3 36 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412543 154412543 + Missense_Mutation SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr6:154412543G>A ENST00000414028.2 + 3 1150 c.1100G>A c.(1099-1101)cGa>cAa p.R367Q OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q|OPRM1_ENST00000330432.7_Missense_Mutation_p.R367Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 367 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding p.R367L(2)|p.R460L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AACTCCACTCGAATTCGTCAG 0.443000 4 91 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126367460 126367460 + Silent SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr4:126367460C>T ENST00000394329.3 + 8 7219 c.7206C>T c.(7204-7206)atC>atT p.I2402I FAT4_ENST00000335110.5_Silent_p.I700I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2402 Cadherin 23. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ATAGGATCATCGGTGGAAACT 0.343000 5 95 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 94 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 62 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42003250 42003250 + Nonsense_Mutation SNP C C G TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr15:42003250C>G ENST00000219905.7 + 8 2968 c.2787C>G c.(2785-2787)taC>taG p.Y929* MGA_ENST00000545763.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000570161.1_Nonsense_Mutation_p.Y929*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Y929* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 929 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGCAGAAATACTCTCATGTGA 0.378000 12 100 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285560 16285560 + Silent SNP T T C TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr17:16285560T>C ENST00000302182.3 + 2 731 c.339T>C c.(337-339)ccT>ccC p.P113P RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 113 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCTCCCGACCAGC 0.557000 4 114 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143713791 143713791 + Missense_Mutation SNP C C T rs146601376 TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr2:143713791C>T ENST00000264170.4 + 6 713 c.455C>T c.(454-456)aCg>aTg p.T152M KYNU_ENST00000375773.2_Missense_Mutation_p.T152M|KYNU_ENST00000409512.1_Missense_Mutation_p.T152M NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 152 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTTAAGCCTACGCCAAAACGA 0.294000 3 43 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91859787 91859787 + Silent SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr1:91859787G>A ENST00000370425.3 - 4 455 c.357C>T c.(355-357)ggC>ggT p.G119G HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 119 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATGTCAGCTTGCCAGCAATAT 0.343000 8 70 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32621634 32621634 + Missense_Mutation SNP G G A rs141355195 TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr8:32621634G>A ENST00000338921.4 + 13 2178 c.1661G>A c.(1660-1662)cGg>cAg p.R554Q NRG1_ENST00000356819.4_Missense_Mutation_p.R551Q|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.R543Q|NRG1_ENST00000287845.5_Missense_Mutation_p.R517Q|NRG1_ENST00000287840.5_Missense_Mutation_p.R546Q|NRG1_ENST00000539990.1_Missense_Mutation_p.R389Q|NRG1_ENST00000405005.2_Missense_Mutation_p.R546Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R496Q Q02297 NRG1_HUMAN neuregulin 1 546 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AATAGCCGGCGGGCCAAAAGA 0.517000 5 29 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940632 22940632 + Silent SNP C C T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr19:22940632C>T ENST00000397104.3 - 5 1805 c.1806G>A c.(1804-1806)agG>agA p.R602R ZNF99_ENST00000596209.1_Silent_p.R693R zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTTATGTTTCCTAAGGGCTG 0.373000 4 67 0 0 1 0 0 GNL1 2794 broad.mit.edu 37 6 30515194 30515194 + Missense_Mutation SNP G G A TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr6:30515194G>A ENST00000376621.3 - 9 2183 c.1213C>T c.(1213-1215)Ccc>Tcc p.P405S NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 405 G. response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TTCACAGAGGGGGTAAGAAAG 0.562000 21 197 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 54 0 0 1 0 0 C9orf9 11092 broad.mit.edu 37 9 135765348 135765348 + Missense_Mutation SNP C C T rs2231412 TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr9:135765348C>T ENST00000350499.6 + 5 654 c.500C>T c.(499-501)aCg>aTg p.T167M C9orf9_ENST00000356311.5_3'UTR|C9orf9_ENST00000372136.3_3'UTR NM_018956.3 NP_061829.3 Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 0 p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) TCACAGGGGACGACTTAGCTT 0.448000 21 303 0 0 1 0 0 TMEM5 10329 broad.mit.edu 37 12 64199185 64199186 + Splice_Site INS - - T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr12:64199185_64199186insT ENST00000537373.1 + 5 1082 c.e5+1 TMEM5_ENST00000261234.6_Splice_Site NM_001278237.1 NP_001265166.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) CAAGAGAACAGTAAGTTCTATG 0.347 7 82 --- --- --- --- CCDC144B 0 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 3 4 --- --- --- --- ZNF585B 92285 broad.mit.edu 37 19 37677872 37677873 + Frame_Shift_Ins INS - - T TCGA-VN-A88I-01A-11D-A34U-08 TCGA-VN-A88I-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ddf3f3e-d1b5-40c9-8781-91fc7ad54cb3 bd4e531f-404d-4daa-8842-9718b657a281 g.chr19:37677872_37677873insT ENST00000532828.2 - 5 817_818 c.566_567insA c.(565-567)agafs p.R189fs CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.R134fs|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000527838.1_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCCACATTCATTGCACTTATA 0.376 15 165 --- --- --- ---