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 MACF1 23499 broad.mit.edu 37 1 39853372 39853372 + Missense_Mutation SNP A A G TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr1:39853372A>G ENST00000564288.1 + 58 15635 c.14858A>G c.(14857-14859)gAg>gGg p.E4953G MACF1_ENST00000317713.7_Missense_Mutation_p.E2891G|MACF1_ENST00000567887.1_Missense_Mutation_p.E4990G|MACF1_ENST00000289893.4_Missense_Mutation_p.E3393G|MACF1_ENST00000545844.1_Missense_Mutation_p.E2891G|MACF1_ENST00000361689.2_Missense_Mutation_p.E2891G|MACF1_ENST00000372915.3_Missense_Mutation_p.E4958G|MACF1_ENST00000539005.1_Missense_Mutation_p.E2870G Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 4958 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AATGAGGTGGAGAAGCGCCGC 0.483 7 24 --- --- --- --- DOCK7 85440 broad.mit.edu 37 1 63027353 63027353 + Missense_Mutation SNP A A T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr1:63027353A>T ENST00000251157.5 - 19 2167 c.2134T>A c.(2134-2136)Tgg>Agg p.W712R DOCK7_ENST00000340370.5_Missense_Mutation_p.W712R NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 712 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 TTATCTACCCATTTCATGCCA 0.289 14 59 --- --- --- --- DEPDC1 55635 broad.mit.edu 37 1 68947142 68947142 + Missense_Mutation SNP G G A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr1:68947142G>A ENST00000456315.2 - 9 2030 c.1916C>T c.(1915-1917)gCa>gTa p.A639V DEPDC1_ENST00000370966.5_Missense_Mutation_p.A355V|RP4-694A7.2_ENST00000425820.1_RNA NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 639 Interaction with ZNF224. intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CGTACCCATTGCATCATGAAG 0.353 3 55 --- --- --- --- ZRANB3 84083 broad.mit.edu 37 2 135965348 135965348 + Missense_Mutation SNP C C A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr2:135965348C>A ENST00000401392.1 - 19 2871 c.2659G>T c.(2659-2661)Gat>Tat p.D887Y ZRANB3_ENST00000536680.1_Missense_Mutation_p.D887Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.D889Y Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 889 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) ACAGTGAGATCTGCCTGGACT 0.423 4 47 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87018025 87018025 + Missense_Mutation SNP A A G TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr3:87018025A>G ENST00000398399.2 - 3 1015 c.652T>C c.(652-654)Tcc>Ccc p.S218P VGLL3_ENST00000383698.3_Missense_Mutation_p.S218P NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TGGCTGTAGGATGGGCTCACC 0.607 8 48 --- --- --- --- ERBB2IP 55914 broad.mit.edu 37 5 65322164 65322164 + Missense_Mutation SNP T T C TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr5:65322164T>C ENST00000284037.5 + 13 1444 c.1055T>C c.(1054-1056)cTc>cCc p.L352P ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L352P|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L352P NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 352 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) GTGCTGTTTCTCCATTCCAAT 0.303 12 46 --- --- --- --- PCDHGA3 56112 broad.mit.edu 37 5 140723618 140723618 + Missense_Mutation SNP T T A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr5:140723618T>A ENST00000253812.6 + 1 18 c.18T>A c.(16-18)agT>agA p.S6R PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGCCTGAGTTTCCGAAATG 0.522 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 86 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55120018 55120018 + Missense_Mutation SNP A A G TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr6:55120018A>G ENST00000370862.3 + 3 823 c.487A>G c.(487-489)Aag>Gag p.K163E NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 163 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTTGATGTTTAAGAGCACAGC 0.493 9 51 --- --- --- --- AMD1 262 broad.mit.edu 37 6 111210071 111210071 + Missense_Mutation SNP T T G TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr6:111210071T>G ENST00000368885.3 + 3 545 c.209T>G c.(208-210)aTg>aGg p.M70R AMD1_ENST00000368876.1_Start_Codon_SNP_p.M1R|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.M41R|AMD1_ENST00000451850.2_Intron NM_001634.4 NP_001625.2 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 70 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) GAGAGTAGCATGTTTGTCTCC 0.388 18 57 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146242326 146242326 + Missense_Mutation SNP C C T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr6:146242326C>T ENST00000367503.3 - 21 4395 c.3997G>A c.(3997-3999)Gaa>Aaa p.E1333K SHPRH_ENST00000275233.7_Missense_Mutation_p.E1329K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E1333K|SHPRH_ENST00000367505.2_Missense_Mutation_p.E1329K NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 1329 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TTCCATGCTTCAAAGAGATCC 0.303 4 17 --- --- --- --- POM121L12 285877 broad.mit.edu 37 7 53103908 53103908 + Missense_Mutation SNP C C A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr7:53103908C>A ENST00000408890.4 + 1 560 c.544C>A c.(544-546)Ctc>Atc p.L182I NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 182 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCTGGGGGCGCTCAGCCAGTG 0.721 9 23 --- --- --- --- MAGI2 9863 broad.mit.edu 37 7 79082369 79082369 + Missense_Mutation SNP T T C TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr7:79082369T>C ENST00000354212.4 - 1 521 c.268A>G c.(268-270)Aag>Gag p.K90E MAGI2_ENST00000419488.1_Missense_Mutation_p.K90E|MAGI2-AS3_ENST00000429408.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.K90E NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 90 PDZ 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGGGGGTCCTTGCAGTGTTTG 0.637 9 49 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113267582 113267582 + Missense_Mutation SNP C C A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr8:113267582C>A ENST00000297405.5 - 62 10181 c.9937G>T c.(9937-9939)Gtt>Ttt p.V3313F CSMD3_ENST00000455883.2_Missense_Mutation_p.V3144F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3243F|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3273F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3313 Sushi 26. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTGAATGAAACCTCTGACTGG 0.423 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 36 --- --- --- --- DSCC1 79075 broad.mit.edu 37 8 120865380 120865380 + Silent SNP T T C TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr8:120865380T>C ENST00000313655.4 - 2 472 c.258A>G c.(256-258)gcA>gcG p.A86A NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 86 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGGAAGTGTCTGCTATCTTCA 0.408 13 92 --- --- --- --- GPR107 57720 broad.mit.edu 37 9 132853235 132853235 + Silent SNP A A C TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr9:132853235A>C ENST00000372406.1 + 8 1209 c.702A>C c.(700-702)ccA>ccC p.P234P GPR107_ENST00000372410.3_Silent_p.P234P|GPR107_ENST00000347136.6_Silent_p.P234P NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 234 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) AAGAATTGCCAAGTGACAAGT 0.358 7 30 --- --- --- --- C9orf139 401563 broad.mit.edu 37 9 139929144 139929144 + Missense_Mutation SNP C C A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr9:139929144C>A ENST00000314330.2 + 3 1725 c.211C>A c.(211-213)Cgc>Agc p.R71S NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 71 cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) TGTCCTGCCACGCCTGCGGGT 0.657 21 67 --- --- --- --- NEBL 10529 broad.mit.edu 37 10 21169734 21169734 + Missense_Mutation SNP G G A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr10:21169734G>A ENST00000377122.4 - 5 865 c.469C>T c.(469-471)Cac>Tac p.H157Y NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.H157Y|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 157 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TTACTCTGGTGTTTATTGACC 0.403 7 59 --- --- --- --- C10orf11 83938 broad.mit.edu 37 10 77806998 77806998 + Missense_Mutation SNP A A C TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr10:77806998A>C ENST00000372499.1 + 3 466 c.251A>C c.(250-252)aAc>aCc p.N84T C10orf11_ENST00000593699.1_3'UTR NM_032024.3 NP_114413.1 Q9H2I8 CJ011_HUMAN chromosome 10 open reading frame 11 84 endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 10 Prostate(51;0.0095)|all_epithelial(25;0.0221) CTGCTGGGCAACGTGGCCTGT 0.517 9 55 --- --- --- --- MMP26 56547 broad.mit.edu 37 11 5013446 5013446 + Missense_Mutation SNP G G C TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr11:5013446G>C ENST00000380390.1 + 7 976 c.760G>C c.(760-762)Gaa>Caa p.E254Q MMP26_ENST00000300762.1_Missense_Mutation_p.E254Q Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 254 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TTCCATAGGAGAAAAATGTTC 0.383 8 35 --- --- --- --- PRMT3 10196 broad.mit.edu 37 11 20424497 20424497 + Silent SNP C C T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr11:20424497C>T ENST00000331079.6 + 8 955 c.738C>T c.(736-738)ttC>ttT p.F246F PRMT3_ENST00000437750.2_Silent_p.F184F NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779 O60678 ANM3_HUMAN protein arginine methyltransferase 3 246 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 ACCGAGATTTCATATACCAAA 0.353 24 53 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65271416 65271416 + RNA SNP T T G TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr11:65271416T>G ENST00000534336.1 + 0 6184 NR_002819.2 ATTACACATTTTATTTCCAGA 0.333 5 11 --- --- --- --- TCIRG1 10312 broad.mit.edu 37 11 67818000 67818000 + Silent SNP C C T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr11:67818000C>T ENST00000265686.3 + 19 2391 c.2283C>T c.(2281-2283)ggC>ggT p.G761G TCIRG1_ENST00000532635.1_Silent_p.G545G|TCIRG1_ENST00000530802.1_Intron NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 761 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 TAGGCCTGGGCCTGGGCCGGG 0.657 17 126 --- --- --- --- PHLDB1 23187 broad.mit.edu 37 11 118514553 118514553 + Silent SNP C C T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr11:118514553C>T ENST00000361417.2 + 15 3324 c.2913C>T c.(2911-2913)agC>agT p.S971S PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.S7S|PHLDB1_ENST00000356063.5_Silent_p.S924S|PHLDB1_ENST00000524713.1_Silent_p.S114S NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 971 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) AGGCCACCAGCCCCCTTCCCC 0.662 13 26 --- --- --- --- KIAA1467 57613 broad.mit.edu 37 12 13215818 13215818 + Missense_Mutation SNP A A C TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr12:13215818A>C ENST00000197268.8 + 5 881 c.761A>C c.(760-762)aAc>aCc p.N254T NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 254 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TACTTGTCCAACGGTACCTTG 0.493 5 143 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88560143 88560143 + Silent SNP A A G TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr12:88560143A>G ENST00000266712.6 + 7 1054 c.834A>G c.(832-834)acA>acG p.T278T NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 278 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 CAACTCCTACAAGGCAACTAA 0.348 4 56 --- --- --- --- CIT 11113 broad.mit.edu 37 12 120288024 120288024 + Missense_Mutation SNP A A T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr12:120288024A>T ENST00000392521.2 - 5 525 c.470T>A c.(469-471)aTc>aAc p.I157N CIT_ENST00000261833.7_Missense_Mutation_p.I157N NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 157 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TAATTGGGGGATCCACGGGCT 0.408 6 176 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51174514 51174514 + Missense_Mutation SNP C C T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr16:51174514C>T ENST00000440970.1 - 2 1759 c.1328G>A c.(1327-1329)aGc>aAc p.S443N SALL1_ENST00000251020.4_Missense_Mutation_p.S540N|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 540 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GTCTAGCCAGCTGGTGACTGG 0.557 11 31 --- --- --- --- ACTG1 71 broad.mit.edu 37 17 79479005 79479005 + Missense_Mutation SNP A A T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr17:79479005A>T ENST00000575842.1 - 2 713 c.287T>A c.(286-288)gTg>gAg p.V96E ACTG1_ENST00000573283.1_Missense_Mutation_p.V96E|ACTG1_ENST00000331925.2_Missense_Mutation_p.V96E|ACTG1_ENST00000575087.1_Missense_Mutation_p.V96E P63261 ACTG_HUMAN actin, gamma 1 96 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) CTCCGGGGCCACGCGCAGCTC 0.627 9 33 --- --- --- --- DSEL 92126 broad.mit.edu 37 18 65180992 65180992 + Missense_Mutation SNP T T G TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr18:65180992T>G ENST00000310045.7 - 2 2357 c.884A>C c.(883-885)aAa>aCa p.K295T CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 285 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TGTGACGGATTTAGCTGTGTA 0.398 4 76 --- --- --- --- ZNF816 125893 broad.mit.edu 37 19 53453374 53453374 + Missense_Mutation SNP G G A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr19:53453374G>A ENST00000357666.4 - 5 1954 c.1654C>T c.(1654-1656)Ctt>Ttt p.L552F ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L552F NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 552 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TGGTTTGCAAGGCATGAATCA 0.403 14 88 --- --- --- --- MMP9 4318 broad.mit.edu 37 20 44644994 44644994 + Missense_Mutation SNP G G T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr20:44644994G>T ENST00000372330.3 + 13 2130 c.2111G>T c.(2110-2112)tGc>tTc p.C704F RP11-465L10.10_ENST00000535913.1_RNA NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 704 Hemopexin-like 4. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) ATCCTGCAGTGCCCTGAGGAC 0.582 9 33 --- --- --- --- NCOA5 57727 broad.mit.edu 37 20 44693760 44693760 + Missense_Mutation SNP C C T TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr20:44693760C>T ENST00000290231.6 - 6 901 c.737G>A c.(736-738)aGc>aAc p.S246N NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) ACCTCCCCTGCTAACATCCTC 0.527 21 75 --- --- --- --- DONSON 29980 broad.mit.edu 37 21 34951736 34951736 + Missense_Mutation SNP A A G TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr21:34951736A>G ENST00000303071.5 - 9 1549 c.1483T>C c.(1483-1485)Tct>Cct p.S495P DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.S481P|DONSON_ENST00000432378.1_Intron NM_017613.3 NP_060083.1 Q9NYP3 DONS_HUMAN downstream neighbor of SON 495 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 GCAGAGAAAGATCCACTCTGT 0.428 43 82 --- --- --- --- IGLV1-47 28822 broad.mit.edu 37 22 22712528 22712528 + RNA SNP G G C TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr22:22712528G>C ENST00000390294.2 + 0 327 TGGCACCTCAGCCTCCCTGGC 0.597 53 87 --- --- --- --- IL17REL 400935 broad.mit.edu 37 22 50437763 50437763 + Silent SNP C C T rs148168797 TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr22:50437763C>T ENST00000389983.2 - 9 822 c.558G>A c.(556-558)gcG>gcA p.A186A IL17REL_ENST00000341280.5_Silent_p.A186A NM_001001694.2 NP_001001694.2 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 186 endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CGTCAGGGGTCGCAGACCAGC 0.677 10 61 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52947299 52947319 + Splice_Site DEL GCCTTCAATCTATATAAAAAG GCCTTCAATCTATATAAAAAG - TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr1:52947299_52947319delGCCTTCAATCTATATAAAAAG ENST00000371544.3 - 11 1898_1906 c.1636_1644delCTTTTTATATAGATTGAAGGC c.(1636-1644)ctttttatadel p.LFI546del ZCCHC11_ENST00000257177.4_Splice_Site_p.LFI546del|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 546 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding p.E547*(1) NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 TTGGGTCAAAGCCTTCAATCTATATAAAAAGGCATTCCAAA 0.335 12 47 --- --- --- --- SLC26A2 1836 broad.mit.edu 37 5 149357907 149357907 + Frame_Shift_Del DEL T T - TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr5:149357907delT ENST00000286298.4 + 2 960 c.692delT c.(691-693)gttfs p.V231fs NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 231 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATAGCTGGAGTTTATCAGGTA 0.343 11 45 --- --- --- --- ACTR6 64431 broad.mit.edu 37 12 100617651 100617657 + Frame_Shift_Del DEL AGAAAAT AGAAAAT - TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr12:100617651_100617657delAGAAAAT ENST00000188312.2 + 11 1914_1920 c.1149_1155delAGAAAAT c.(1147-1155)gaagaaaatfs p.EEN383fs ACTR6_ENST00000551617.1_Frame_Shift_Del_p.EEN281fs|ACTR6_ENST00000546902.1_Frame_Shift_Del_p.EEN301fs|ACTR6_ENST00000552376.1_Frame_Shift_Del_p.EEN363fs NM_022496.4 NP_071941.1 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog (yeast) 383 cytoplasm|cytoskeleton p.E384K(1) autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 AAGATTACGAAGAAAATGGACATAGCG 0.329 7 46 --- --- --- --- MBD1 4152 broad.mit.edu 37 18 47806259 47806260 + Frame_Shift_Ins INS - - A TCGA-V1-A8WV-01A-11D-A377-08 TCGA-V1-A8WV-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb3d2a6b-9f91-4cc4-8f42-129e41672023 84819ecf-df76-4072-96dc-6a298f4b3b0c g.chr18:47806259_47806260insA ENST00000591416.1 - 2 534_535 c.103_104insT c.(103-105)tacfs p.Y35fs MBD1_ENST00000590208.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000347968.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585672.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398488.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000591535.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398495.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000424334.2_Frame_Shift_Ins_p.Y61fs|MBD1_ENST00000436910.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000349085.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000398493.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000353909.3_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000339998.6_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000588937.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000587605.1_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000382948.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269471.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000457839.2_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000269468.5_Frame_Shift_Ins_p.Y35fs|MBD1_ENST00000585595.1_Frame_Shift_Ins_p.Y35fs Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 35 MBD. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GTACCTCTGGTAATAGGTGTCT 0.554 19 21 --- --- --- ---