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 SLCO2A1 6578 broad.mit.edu 37 3 133667435 133667435 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr3:133667435G>A uc003eqa.4 - 7 1324 c.1050C>T c.(1048-1050)aaC>aaT p.N350N SLCO2A1_uc011blv.2_Silent_p.N169N NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 350 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CCAGGAACTTGTTGAGGAAGG 0.587000 6 225 0 0 1 0 0 IGDCC4 57722 broad.mit.edu 37 15 65684514 65684514 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr15:65684514G>A uc002aou.1 - 10 2290 c.2080C>T c.(2080-2082)Cgg>Tgg p.R694W IGDCC4_uc002aot.1_Missense_Mutation_p.R282W NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA. 694 Fibronectin type-III 3. integral to membrane|plasma membrane p.R694R(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TTCTTGAGCCGGACAGGCCCC 0.627000 3 121 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100284337 100284337 + Missense_Mutation SNP T T C TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr7:100284337T>C uc003uwg.1 - 6 1638 c.629A>G c.(628-630)gAg>gGg p.E210G NM_022574 NP_072096 O75420 PERQ1_HUMAN Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA. 210 Poly-Glu. p.E210delE(2) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CCAGCTGCcctcctcctcctc 0.701000 3 63 0 0 1 0 0 ELAVL1 1994 broad.mit.edu 37 19 8028430 8028430 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr19:8028430G>A uc002mjb.3 - 5 1085 c.918C>T c.(916-918)aaC>aaT p.N306N NM_001419 NP_001410 Q15717 ELAV1_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA. 306 RRM 3. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GGCGGTAGCCGTTCAGGCTGG 0.453000 3 106 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158935229 158935229 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr7:158935229G>A uc003woh.3 - 1 246 c.60C>T c.(58-60)agC>agT p.S20S VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript NM_003382 NP_003373 P41587 VIPR2_HUMAN Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA. 20 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CTGGGTGAATGCTGTTCACCT 0.373000 8 123 0 0 1 0 0 AC2 0 broad.mit.edu 37 1 151991151 151991151 + RNA SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr1:151991151C>T uc001ezm.1 + 7 c.2215C>T Homo sapiens AC2 pseudogene, precursor RNA sequence. GTGGTGTCTGCCAGCCCTTCA 0.488000 3 70 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193375008 193375008 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr3:193375008C>T uc003ftg.3 + 22 2552 c.2318C>T c.(2317-2319)gCg>gTg p.A773V OPA1_uc003fth.3_Missense_Mutation_p.A737V|OPA1_uc003fti.3_Missense_Mutation_p.A755V|OPA1_uc003ftj.3_Missense_Mutation_p.A736V|OPA1_uc003ftk.3_Missense_Mutation_p.A719V|OPA1_uc003ftl.3_Missense_Mutation_p.A700V|OPA1_uc003ftm.3_Missense_Mutation_p.A718V|OPA1_uc003ftn.3_Missense_Mutation_p.A682V NM_130837 NP_570850 O60313 OPA1_HUMAN Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA. 718 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) AATGACTTTGCGGAGGACAGC 0.353000 3 124 0 0 1 0 0 DUS2L 54920 broad.mit.edu 37 16 68100529 68100529 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr16:68100529G>A uc002evi.3 + 9 693 c.544G>A c.(544-546)Gtt>Att p.V182I DUS2L_uc002evj.3_Missense_Mutation_p.V182I|DUS2L_uc010vkk.2_Missense_Mutation_p.V147I NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA. 182 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) TGCCATCGCAGTTCATGGGAG 0.522000 8 272 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1269764 1269764 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr11:1269764G>A uc001lta.3 + 30 11713 c.11654G>A c.(11653-11655)cGc>cAc p.R3885H NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 3885 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGACGGCACGCACGCCTCCA 0.652000 4 198 0 0 1 0 0 XRCC5 7520 broad.mit.edu 37 2 216990723 216990723 + Missense_Mutation SNP A A G TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr2:216990723A>G uc002vfy.3 + 6 907 c.767A>G c.(766-768)aAt>aGt p.N256S XRCC5_uc002vfz.3_Missense_Mutation_p.N142S NM_021141 NP_066964 P13010 XRCC5_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA. 256 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) ATTGGCTCCAATTTGTCTATA 0.388000 Non-homologous end-joining 4 111 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 88 140 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54926136 54926136 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr17:54926136G>A uc002iur.3 + 5 1148 c.968G>A c.(967-969)gGt>gAt p.G323D DGKE_uc002ius.1_Missense_Mutation_p.G323D NM_003647 NP_003638 P52429 DGKE_HUMAN Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA. 323 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TTGGGTTGGGGTACAGGTTAT 0.413000 3 137 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4873152 4873152 + Missense_Mutation SNP A A T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr12:4873152A>T uc001qne.1 + 8 1624 c.1532A>T c.(1531-1533)gAt>gTt p.D511V NM_017417 NP_059113 Q9NY28 GALT8_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA. 511 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GTCTGCTTGGATCAGGGACCC 0.502000 9 109 0 0 1 0 0 PRMT1 3276 broad.mit.edu 37 19 50180555 50180555 + Silent SNP C C G TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr19:50180555C>G uc010enf.2 + 0 147 c.18C>G c.(16-18)gcC>gcG p.A6A PRMT1_uc021uxu.1_5'UTR|PRMT1_uc002ppe.3_Silent_p.A6A|PRMT1_uc021uxv.1_Silent_p.A6A|PRMT1_uc010yba.2_5'Flank NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA. 5 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CAGCCGAGGCCGCGAACTGCA 0.667000 23 37 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23833344 23833345 + Missense_Mutation DNP GC GC TG TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr4:23833344_23833345GC>TG uc003gqs.3 - 2 384_385 c.264_265GC>CA c.(262-267)ttgcta>ttCAta p.88_89LL>FI PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA. 88 RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) AGGACTGCTAGCAAGTTTGCCT 0.465000 14 343 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72147128 72147128 + Missense_Mutation SNP A A C TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr13:72147128A>C uc021rkj.1 - 3 1572 c.1149T>G c.(1147-1149)ttT>ttG p.F383L DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 433 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GCATCATCATAAAAGGAAGTT 0.398000 35 31 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67069034 67069034 + Missense_Mutation SNP G G A rs141392969 TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr11:67069034G>A uc001okd.2 + 12 1594 c.1424G>A c.(1423-1425)cGc>cAc p.R475H ANKRD13D_uc001okc.2_Missense_Mutation_p.R388H|ANKRD13D_uc001oke.2_Missense_Mutation_p.R388H|ANKRD13D_uc001okg.2_Missense_Mutation_p.R171H|ANKRD13D_uc001okh.2_Missense_Mutation_p.R171H|ANKRD13D_uc001oki.2_Missense_Mutation_p.R125H|SSH3_uc001okj.3_5'Flank|SSH3_uc001okk.3_5'Flank|SSH3_uc001okl.3_5'Flank NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA. 388 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGCATGGAGCGCAACGAGCCC 0.662000 3 131 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20478389 20478389 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr2:20478389G>A uc002rds.1 - 11 1930 c.1912C>T c.(1912-1914)Ccg>Tcg p.P638S PUM2_uc002rdq.1_Missense_Mutation_p.P15S|PUM2_uc002rdt.1_Missense_Mutation_p.P638S|PUM2_uc002rdr.2_Intron|PUM2_uc010yjy.1_Intron|PUM2_uc002rdu.1_Missense_Mutation_p.P638S|PUM2_uc010yjz.1_Missense_Mutation_p.P577S NM_015317 NP_056132 Q8TB72 PUM2_HUMAN Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA. 638 Ser-rich. regulation of translation perinuclear region of cytoplasm|stress granule RNA binding|protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTGATGGCGGTGGCGTAAGT 0.413000 3 75 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31349713 31349713 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr1:31349713C>T uc001bse.2 - 2 603 c.556G>A c.(556-558)Gcc>Acc p.A186T SDC3_uc001bsd.2_Missense_Mutation_p.A128T NM_014654 NP_055469 O75056 SDC3_HUMAN Homo sapiens syndecan 3 (SDC3), mRNA. 186 Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGGTGGCGGTGGCCACT 0.637000 16 24 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5754856 5754856 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr9:5754856G>A uc003zjl.4 + 13 1698 c.1507G>A c.(1507-1509)Gtg>Atg p.V503M KIAA1432_uc003zjh.3_Missense_Mutation_p.V461M|KIAA1432_uc003zji.3_Missense_Mutation_p.V461M|KIAA1432_uc003zjj.1_Missense_Mutation_p.V3M NM_001206557 NP_001193486 Q4ADV7 RIC1_HUMAN Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA. 540 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AAATATGATCGTGACAGGTGG 0.299000 3 84 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20000569 20000569 + Missense_Mutation SNP G G T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr13:20000569G>T uc001umd.3 - 18 1602 c.1391C>A c.(1390-1392)tCt>tAt p.S464Y TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Missense_Mutation_p.S353Y|TPTE2_uc001ume.3_Missense_Mutation_p.S387Y|TPTE2_uc009zzm.3_Missense_Mutation_p.S135Y|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.S135Y NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 464 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTCACCGAAGAGAAAAACTG 0.363000 6 149 0 0 1 0 0 DERL1 79139 broad.mit.edu 37 8 124033740 124033740 + Splice_Site SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr8:124033740C>T uc003ypl.2 - 6 740 c.454_splice c.e6-1 p.A152_splice DERL1_uc003ypm.2_Splice_Site_p.A152_splice|DERL1_uc011lif.1_Splice_Site_p.A52_splice|DERL1_uc003ypn.2_Splice_Site_p.A152_splice NM_024295 NP_077271 Q9BUN8 DERL1_HUMAN Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA. 152 ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane MHC class I protein binding|receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 8 Lung NSC(37;1.06e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AATAGCAGGCCTAGGATGGAA 0.413000 3 142 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57559912 57559912 + Missense_Mutation SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr12:57559912G>A uc001snd.3 + 16 3183 c.2717G>A c.(2716-2718)cGg>cAg p.R906Q LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 906 LDL-receptor class A 4. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GAGAACAACCGGTGCATCCCC 0.597000 3 118 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20107857 20107857 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr17:20107857G>A uc002gwq.3 + 3 605 c.495G>A c.(493-495)gcG>gcA p.A165A SPECC1_uc010cqx.3_Silent_p.A165A|SPECC1_uc002gwr.3_Silent_p.A165A|SPECC1_uc002gws.3_Silent_p.A165A|SPECC1_uc002gwv.3_Silent_p.A84A|SPECC1_uc010vzf.2_Intron|SPECC1_uc002gwu.3_Silent_p.A84A|SPECC1_uc002gwt.3_Silent_p.A84A NM_001243439 NP_001230368 Q5M775 CYTSB_HUMAN Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA. 165 AALESQV -> VRLSPKF (in Ref. 1; BAB16440). nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) AAAAGGCTGCGCTTGAGTCCC 0.458000 3 101 0 0 1 0 0 MFSD7 84179 broad.mit.edu 37 4 675823 675823 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr4:675823C>T uc003gay.3 - 9 1664 c.1607G>A c.(1606-1608)gGc>gAc p.G536D MFSD7_uc003gaw.3_Missense_Mutation_p.G278D|MFSD7_uc003gax.3_Missense_Mutation_p.G535D|MFSD7_uc003gaz.3_Missense_Mutation_p.G417D NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA. 536 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 TTGGACCCTGCCTGCGAGTCT 0.692000 3 27 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160240182 160240182 + Silent SNP G G A TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr2:160240182G>A uc002uao.3 - 23 4101 c.3696C>T c.(3694-3696)gaC>gaT p.D1232D BAZ2B_uc002uap.3_Silent_p.D1196D NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 1232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CAATGTTCTTGTCGATTTCAC 0.289000 13 16 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66191839 66191839 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr11:66191839C>T uc001ohx.1 + 6 1654 c.1478C>T c.(1477-1479)tCg>tTg p.S493L NPAS4_uc010rpc.1_Missense_Mutation_p.S283L NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 493 transcription, DNA-dependent DNA binding|signal transducer activity p.S493L(2) breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 ACTGAAACCTCGGTCAGAAGC 0.577000 16 499 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18870826 18870826 + Missense_Mutation SNP C C T TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr19:18870826C>T uc010ebv.3 + 8 810 c.722C>T c.(721-723)cCg>cTg p.P241L CRTC1_uc002nkb.4_Missense_Mutation_p.P225L|CRTC1_uc010ebw.3_Missense_Mutation_p.P90L NM_001098482 NP_001091952 Q6UUV9 CRTC1_HUMAN Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA. 225 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 AGCATCTTCCCGTCTGCCGAC 0.672000 5 291 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10789616 10789620 + Splice_Site DEL TATAG TATAG - TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr11:10789616_10789620delTATAG uc001mja.3 + 15 2022 c.1873_splice c.e15-1 p.E625_splice NM_014633 NP_055448 Q6PD62 CTR9_HUMAN Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA. 625 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CACTTGTTTCTATAGGAAAAGCGTC 0.380 27 59 --- --- --- --- IRX3 79191 broad.mit.edu 37 16 54318498 54318498 + Frame_Shift_Del DEL G G - TCGA-DJ-A3UP-01A-11D-A22D-08 TCGA-DJ-A3UP-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 43f8d30b-1ca7-40a7-b0ae-e3c275446c14 dde10b76-a9b4-4d88-99ff-40daf388ee30 g.chr16:54318498delG uc002eht.1 - 1 1711 c.1295delC c.(1294-1296)cctfs p.P432fs NM_024336 NP_077312 P78415 IRX3_HUMAN Homo sapiens iroquois homeobox 3 (IRX3), mRNA. 432 Pro-rich. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 CAGGTGCGGAGGGGCAGAGCC 0.751 2 4 --- --- --- ---