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 CAMTA1 23261 broad.mit.edu 37 1 7725006 7725006 + Missense_Mutation SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr1:7725006G>A uc001aoi.2 + 9 2606 c.2399G>A c.(2398-2400)AGC>AAC p.S800N NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 800 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TCGGGGGACAGCACGGCGCTC 0.647000 KIRREL 55243 broad.mit.edu 37 1 158045982 158045982 + Silent SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr1:158045982G>A uc001frn.3 + 2 536 c.132G>A c.(130-132)CTG>CTA p.L44L KIRREL_uc010pib.1_Intron|KIRREL_uc009wsq.2_5'UTR NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 44 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane ovary(1) 1 all_hematologic(112;0.0378) CCTGTGTGCTGCTCAACTACT 0.632000 PLXNA2 5362 broad.mit.edu 37 1 208216499 208216499 + Missense_Mutation SNP G G C TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr1:208216499G>C uc001hgz.2 - 21 4682 c.3924C>G c.(3922-3924)GAC>GAG p.D1308E NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1308 Potential.|Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) TTCCTGAGCGGTCCAGGTCAC 0.582000 ITIH5 80760 broad.mit.edu 37 10 7608308 7608308 + Missense_Mutation SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr10:7608308G>A uc001ijq.2 - 13 2291 c.2212C>T c.(2212-2214)CGC>TGC p.R738C ITIH5_uc001ijp.2_Missense_Mutation_p.R524C NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 738 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 AAGTAAGTGCGCTGTTTCTTG 0.502000 C10orf54 64115 broad.mit.edu 37 10 73521610 73521610 + Missense_Mutation SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr10:73521610G>A uc001jsd.2 - 2 397 c.256C>T c.(256-258)CGC>TGC p.R86C CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_5'UTR|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.R86C NM_022153 NP_071436 Q9H7M9 GI24_HUMAN platelet receptor Gi24 precursor 86 Ig-like.|Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1)|central_nervous_system(1) 3 ATGGGCCGGCGCTCTGAGCAG 0.652000 RNLS 55328 broad.mit.edu 37 10 90341418 90341418 + Silent SNP C C T rs148977593 TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr10:90341418C>T uc001kfe.2 - 3 408 c.273G>A c.(271-273)TCG>TCA p.S91S RNLS_uc010qms.1_Intron|RNLS_uc001kfd.2_Silent_p.S91S NM_001031709 NP_001026879 Q5VYX0 RNLS_HUMAN renalase isoform 1 91 extracellular region oxidoreductase activity ovary(1) 1 CTTCAATAGGCGAGCTTAGAG 0.348000 CWF19L1 55280 broad.mit.edu 37 10 102006563 102006563 + Missense_Mutation SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr10:102006563G>A uc001kqq.1 - 8 925 c.838C>T c.(838-840)CTT>TTT p.L280F CWF19L1_uc001kqs.1_Missense_Mutation_p.L32F|CWF19L1_uc001kqr.1_Missense_Mutation_p.L280F|CWF19L1_uc001kqt.1_5'UTR|CWF19L1_uc010qpn.1_Missense_Mutation_p.L143F NM_018294 NP_060764 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control 280 catalytic activity 0 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) ACAGGGGCAAGAATTTGCTTT 0.398000 PHLDA2 7262 broad.mit.edu 37 11 2950367 2950367 + Missense_Mutation SNP G G T TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr11:2950367G>T uc001lxa.1 - 1 284 c.228C>A c.(226-228)GAC>GAA p.D76E NM_003311 NP_003302 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain family A member 76 PH. apoptosis cytoplasm|membrane 0 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCCTTGTGGTCGGTGGTGA 0.662000 PAMR1 25891 broad.mit.edu 37 11 35513643 35513643 + Missense_Mutation SNP C C G TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr11:35513643C>G uc001mwg.2 - 3 372 c.329G>C c.(328-330)GGG>GCG p.G110A PAMR1_uc001mwf.2_Missense_Mutation_p.G110A|PAMR1_uc010rew.1_Missense_Mutation_p.G110A|PAMR1_uc010rex.1_Missense_Mutation_p.G70A NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 110 proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 ACAGTAGAACCCCTTCACATA 0.502000 TMEM126B 55863 broad.mit.edu 37 11 85347202 85347202 + Missense_Mutation SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr11:85347202G>A uc001pao.2 + 6 784 c.532G>A c.(532-534)GGA>AGA p.G178R TMEM126B_uc001pap.2_Missense_Mutation_p.G178R|TMEM126B_uc001paq.1_3'UTR NM_018480 NP_060950 Q8IUX1 T126B_HUMAN transmembrane protein 126B 208 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) GATTATGTTTGGAATATTAAA 0.348000 ZBTB39 9880 broad.mit.edu 37 12 57397688 57397688 + Silent SNP C C T TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr12:57397688C>T uc001sml.1 - 2 1100 c.1014G>A c.(1012-1014)CGG>CGA p.R338R RDH16_uc010sqx.1_5'Flank NM_014830 NP_055645 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 CCTTATTCTCCCGATTGTCAT 0.517000 BTBD11 121551 broad.mit.edu 37 12 108004034 108004034 + Missense_Mutation SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr12:108004034G>A uc001tmk.1 + 5 2232 c.1711G>A c.(1711-1713)GAC>AAC p.D571N BTBD11_uc009zut.1_Missense_Mutation_p.D571N|BTBD11_uc001tmj.2_Missense_Mutation_p.D571N|BTBD11_uc001tml.1_Missense_Mutation_p.D108N NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 isoform a 571 integral to membrane DNA binding skin(2)|ovary(1) 3 GTTTAAGCAGGACCTGGGTTT 0.562000 OREG0022090 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SPRED1 161742 broad.mit.edu 37 15 38643405 38643405 + Missense_Mutation SNP A A T TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr15:38643405A>T uc001zka.3 + 7 1210 c.875A>T c.(874-876)TAT>TTT p.Y292F NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 292 inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) AAATCAGACTATCTGTACTCT 0.383000 Legius_syndrome FSIP1 161835 broad.mit.edu 37 15 40018838 40018838 + Silent SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr15:40018838G>A uc001zki.2 - 9 1220 c.1002C>T c.(1000-1002)TCC>TCT p.S334S NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 334 ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) AAATTGTAGGGGAGGCTGCAG 0.423000 USP7 7874 broad.mit.edu 37 16 9009114 9009114 + Missense_Mutation SNP T T A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr16:9009114T>A uc002czl.2 - 10 1274 c.1075A>T c.(1075-1077)AAT>TAT p.N359Y USP7_uc010uyk.1_Missense_Mutation_p.N260Y|USP7_uc010uyj.1_Missense_Mutation_p.N260Y|USP7_uc002czk.2_Missense_Mutation_p.N343Y|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 359 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 CACTTACTATTTTTCTTTCCT 0.294000 STX4 6810 broad.mit.edu 37 16 31051116 31051116 + Missense_Mutation SNP G G T TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr16:31051116G>T uc002eal.2 + 10 1110 c.886G>T c.(886-888)GTT>TTT p.V296F STX4_uc002eak.2_Missense_Mutation_p.V294F|STX4_uc002eam.2_Missense_Mutation_p.V218F|uc002ean.1_5'Flank NM_004604 NP_004595 Q12846 STX4_HUMAN syntaxin 4 296 Helical; Anchor for type IV membrane protein; (Potential).|Interaction with CENPF (By similarity). intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity 0 CGTCACAGTGGTTGGATAATG 0.587000 FTO 79068 broad.mit.edu 37 16 53913791 53913791 + Silent SNP C C T TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr16:53913791C>T uc002ehr.2 + 6 1233 c.1011C>T c.(1009-1011)CGC>CGT p.R337R FTO_uc010vha.1_Silent_p.R41R NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 337 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 TTTTACAACGCTGTCAGTTGG 0.408000 LRRC46 90506 broad.mit.edu 37 17 45913414 45913414 + Missense_Mutation SNP G G C TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr17:45913414G>C uc002ima.2 + 6 654 c.398G>C c.(397-399)AGC>ACC p.S133T LRRC46_uc002imb.2_Missense_Mutation_p.S86T NM_033413 NP_219481 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 133 ovary(1) 1 TTCCCCCAGAGCCTTCTCATC 0.448000 MED13 9969 broad.mit.edu 37 17 60140634 60140634 + Missense_Mutation SNP T T A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr17:60140634T>A uc002izo.2 - 2 172 c.95A>T c.(94-96)AAA>ATA p.K32I NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 32 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 CCATACATATTTTTTCCACTT 0.393000 MUC16 94025 broad.mit.edu 37 19 9085666 9085666 + Missense_Mutation SNP G G T rs34029599 TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr19:9085666G>T uc002mkp.2 - 1 6353 c.6149C>A c.(6148-6150)TCC>TAC p.S2050Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2050 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CCATAGCCAGGAAGTGATTGC 0.483000 NCAN 1463 broad.mit.edu 37 19 19338422 19338422 + Missense_Mutation SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr19:19338422G>A uc002nlz.2 + 8 2092 c.1993G>A c.(1993-1995)GCC>ACC p.A665T NCAN_uc010ecc.1_Missense_Mutation_p.A229T NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 665 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) TGAGGCCACCGCCACGGCTCC 0.607000 ZNF534 147658 broad.mit.edu 37 19 52941686 52941686 + Missense_Mutation SNP C C A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr19:52941686C>A uc002pzk.2 + 4 1073 c.1012C>A c.(1012-1014)CCT>ACT p.P338T ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.P325T NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGGAGAGAAACCTTATGATTG 0.408000 ST3GAL5 8869 broad.mit.edu 37 2 86075089 86075089 + Missense_Mutation SNP T T C TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr2:86075089T>C uc002sqq.1 - 4 686 c.557A>G c.(556-558)CAC>CGC p.H186R ST3GAL5_uc010fgq.1_Missense_Mutation_p.H58R|ST3GAL5_uc002sqp.1_Missense_Mutation_p.H163R NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 186 Lumenal (Potential). ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity 0 GGCTTTCAAGTGTTCAGGGAG 0.527000 BUB1 699 broad.mit.edu 37 2 111419292 111419292 + Missense_Mutation SNP C C A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr2:111419292C>A uc002tgc.2 - 10 1196 c.1084G>T c.(1084-1086)GTT>TTT p.V362F BUB1_uc010yxh.1_Missense_Mutation_p.V342F|BUB1_uc010fkb.2_Missense_Mutation_p.V362F|BUB1_uc002tgd.2_Missense_Mutation_p.V362F NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 362 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) AAAGGAGGAACAACAGGAGGT 0.517000 NINL 22981 broad.mit.edu 37 20 25470531 25470531 + Missense_Mutation SNP C C G TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr20:25470531C>G uc002wux.1 - 12 1650 c.1576G>C c.(1576-1578)GAG>CAG p.E526Q NINL_uc010gdn.1_Missense_Mutation_p.E526Q|NINL_uc010gdo.1_Missense_Mutation_p.E309Q NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 526 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 AGCACAAACTCCAGGTCCTTC 0.597000 LMOD3 56203 broad.mit.edu 37 3 69168779 69168779 + Missense_Mutation SNP C C A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr3:69168779C>A uc003dns.2 - 2 936 c.727G>T c.(727-729)GGG>TGG p.G243W LMOD3_uc003dnt.2_Missense_Mutation_p.G243W NM_198271 NP_938012 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 243 cytoplasm|cytoskeleton tropomyosin binding ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CTCAAGCTCCCATCCAGGTCT 0.398000 LMOD3 56203 broad.mit.edu 37 3 69168781 69168781 + Missense_Mutation SNP T T A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr3:69168781T>A uc003dns.2 - 2 934 c.725A>T c.(724-726)GAT>GTT p.D242V LMOD3_uc003dnt.2_Missense_Mutation_p.D242V NM_198271 NP_938012 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 242 cytoplasm|cytoskeleton tropomyosin binding ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CAAGCTCCCATCCAGGTCTGT 0.403000 BAI3 577 broad.mit.edu 37 6 70064152 70064152 + Silent SNP A A C TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr6:70064152A>C uc003pev.3 + 27 3935 c.3487A>C c.(3487-3489)AGA>CGA p.R1163R BAI3_uc010kak.2_Silent_p.R1163R|BAI3_uc011dxx.1_Silent_p.R369R NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1163 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ATGCCGATTGAGAAACTGTCA 0.398000 NCOA2 10499 broad.mit.edu 37 8 71071839 71071839 + Missense_Mutation SNP G G A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr8:71071839G>A uc003xyn.1 - 10 1187 c.1025C>T c.(1024-1026)TCT>TTT p.S342F NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 342 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGTGCCATCAGACAAGGAAAA 0.413000 T RUNXBP2 AML KIAA2026 158358 broad.mit.edu 37 9 5922218 5922218 + Missense_Mutation SNP C C T TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr9:5922218C>T uc003zjq.3 - 8 3994 c.3778G>A c.(3778-3780)GCT>ACT p.A1260T KIAA2026_uc010mht.2_Missense_Mutation_p.A435T NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1260 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) GAAGAATCAGCAGTCTGTTGT 0.438000 TAF1L 138474 broad.mit.edu 37 9 32631710 32631710 + Missense_Mutation SNP C C T TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr9:32631710C>T uc003zrg.1 - 1 3958 c.3868G>A c.(3868-3870)GGA>AGA p.G1290R uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1290 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTCATATGTCCAATGGCACCA 0.473000 MED12 9968 broad.mit.edu 37 X 70349258 70349258 + Missense_Mutation SNP C C T TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chrX:70349258C>T uc004dyy.2 + 26 3869 c.3670C>T c.(3670-3672)CTC>TTC p.L1224F MED12_uc011mpq.1_Missense_Mutation_p.L1224F|MED12_uc004dyz.2_Missense_Mutation_p.L1224F|MED12_uc004dza.2_Missense_Mutation_p.L1071F|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1224 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GTTTGCTGTTCTCAAGGCTGT 0.562000 OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ALS2CR8 79800 broad.mit.edu 37 2 203848308 203848309 + Frame_Shift_Ins INS - - A TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr2:203848307_203848308C>CA uc002uzo.2 + 15 2418_2419 c.2138_2139C>CA c.(2137-2139)gcafs p.A713fs ALS2CR8_uc010zia.1_Frame_Shift_Ins_p.A637fs|ALS2CR8_uc010zib.1_Frame_Shift_Ins_p.A637fs|ALS2CR8_uc010zic.1_Frame_Shift_Ins_p.A625fs|ALS2CR8_uc002uzp.2_Frame_Shift_Ins_p.A713fs NM_001104586 NP_079020 Q8N187 AL2S8_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA. 713 breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 20 TCTATGGAAGCAAAAAAAACTG 0.327 SPHKAP 80309 broad.mit.edu 37 2 228886571 228886572 + Frame_Shift_Ins INS - - CCAG TCGA-BR-4294-01A-01D-1126-08 TCGA-BR-4294-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb82319e-a676-4d80-b3e6-95f29d9266b3 5afac6e7-55d3-49a2-89e4-6509ed424a83 g.chr2:228886570_228886571A>ACCAG uc002vpq.2 - 5 600_601 c.553_554T>CTGGT c.(553-555)gtgfs p.V185fs SPHKAP_uc002vpp.2_Frame_Shift_Ins_p.V185fs|SPHKAP_uc010zlx.1_Frame_Shift_Ins_p.V185fs NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 185 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCGCTCCTGCACCAGTTCCAGA 0.455