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 ARL16 339231 broad.mit.edu 37 17 79650772 79650772 + Silent SNP C C G TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr17:79650772C>G ENST00000397498.4 - 1 182 c.84G>C c.(82-84)ctG>ctC p.L28L NM_001040025.1 NP_001035114.1 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 28 GTP binding central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TGGCCCCCAGCAGGAGACACA 0.701000 4 9 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114278436 114278436 + Nonsense_Mutation SNP A A T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr4:114278436A>T ENST00000357077.4 + 38 8715 c.8662A>T c.(8662-8664)Aag>Tag p.K2888* ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.K2855* NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2855 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAACTTACCAAAGGACTGCCC 0.383000 4 113 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77659468 77659468 + Silent SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr18:77659468C>T ENST00000316249.3 + 2 1053 c.1053C>T c.(1051-1053)cgC>cgT p.R351R KCNG2_ENST00000590307.1_3'UTR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 351 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.R351R(1) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GCGCGCGCCGCGACTTCTCCA 0.721000 8 17 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210588329 210588329 + Nonsense_Mutation SNP T T A TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr2:210588329T>A ENST00000199940.6 + 12 1627 c.1187T>A c.(1186-1188)tTa>tAa p.L396* MAP2_ENST00000447185.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000360351.4_Intron|MAP2_ENST00000475600.1_3'UTR NM_001039538.1 NP_001034627.1 P11137 MAP2_HUMAN microtubule-associated protein 2 1674 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GTTAGGATTTTAAACAAGAAG 0.408000 11 28 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77412452 77412452 + Missense_Mutation SNP C C G TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr11:77412452C>G ENST00000308488.6 - 6 2124 c.1822G>C c.(1822-1824)Gaa>Caa p.E608Q RSF1_ENST00000480887.1_Missense_Mutation_p.E356Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E577Q Q96T23 RSF1_HUMAN remodeling and spacing factor 1 608 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GGAACTTCTTCTGGTATTGGA 0.423000 33 64 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086716 39086716 + Silent SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr21:39086716C>T ENST00000400482.3 - 3 1333 c.744G>A c.(742-744)tcG>tcA p.S248S KCNJ6_ENST00000288309.6_Silent_p.S248S NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 248 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) ACTCCCCCTCCGAGGTCTGTT 0.517000 3 61 0 0 1 0 0 HTR3B 9177 broad.mit.edu 37 11 113813797 113813797 + Missense_Mutation SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr11:113813797C>T ENST00000260191.2 + 7 1047 c.790C>T c.(790-792)Cca>Tca p.P264S HTR3B_ENST00000537778.1_Missense_Mutation_p.P253S NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 264 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CTTCTACCTGCCACCCAACTG 0.587000 16 23 0 0 1 0 0 ERGIC3 51614 broad.mit.edu 37 20 34143849 34143849 + Missense_Mutation SNP T T A TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr20:34143849T>A ENST00000348547.2 + 9 840 c.763T>A c.(763-765)Tat>Aat p.Y255N ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000279052.6_Missense_Mutation_p.Y260N|ERGIC3_ENST00000447986.1_Missense_Mutation_p.Y270N|ERGIC3_ENST00000357394.4_Missense_Mutation_p.Y260N NM_015966.2 NP_057050.1 Q9Y282 ERGI3_HUMAN ERGIC and golgi 3 255 vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1) 16 Lung NSC(9;0.00489)|all_lung(11;0.00729) BRCA - Breast invasive adenocarcinoma(18;0.0127) TGGGGAGGACTATCCAGGCAT 0.587000 43 98 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3611520 3611520 + Missense_Mutation SNP T T A TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr8:3611520T>A ENST00000520002.1 - 6 1418 c.863A>T c.(862-864)aAt>aTt p.N288I CSMD1_ENST00000537824.1_Missense_Mutation_p.N288I|CSMD1_ENST00000539096.1_Missense_Mutation_p.N288I|CSMD1_ENST00000602723.1_Missense_Mutation_p.N288I|CSMD1_ENST00000400186.3_Missense_Mutation_p.N288I|CSMD1_ENST00000602557.1_Missense_Mutation_p.N288I|CSMD1_ENST00000542608.1_Missense_Mutation_p.N288I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 288 CUB 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCGTAGCCAATTCTTGCTACT 0.433000 3 28 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44783110 44783110 + Missense_Mutation SNP A A G TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr15:44783110A>G ENST00000260327.4 + 5 1167 c.604A>G c.(604-606)Aat>Gat p.N202D CTDSPL2_ENST00000558966.1_Missense_Mutation_p.N202D|CTDSPL2_ENST00000396780.1_Intron|CTDSPL2_ENST00000558373.1_Intron NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 202 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) AGCTTACTCAAATCAAGCAGT 0.393000 27 57 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209758 140209758 + Silent SNP G G T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr5:140209758G>T ENST00000529310.1 + 1 2196 c.2082G>T c.(2080-2082)gtG>gtT p.V694V PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCGCTGGTGGATGTCAACG 0.677000 5 112 0.00198382 0.00203341 1 1 0 IQSEC3 440073 broad.mit.edu 37 12 274616 274616 + Missense_Mutation SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr12:274616C>T ENST00000538872.1 + 10 2844 c.2726C>T c.(2725-2727)cCg>cTg p.P909L RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.P909L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.P606L Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 909 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AAACTTTGCCCGAAGAAGAAG 0.522000 24 48 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36875231 36875231 + Missense_Mutation SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr3:36875231C>T ENST00000301807.6 - 21 5958 c.4061G>A c.(4060-4062)cGc>cAc p.R1354H TRANK1_ENST00000428977.2_Missense_Mutation_p.R1354H|TRANK1_ENST00000429976.2_Missense_Mutation_p.R1904H NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1904 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTCTGCTAAGCGTTTCCGAGA 0.517000 13 67 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474320 78474320 + Silent SNP G G A TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr15:78474320G>A ENST00000258873.4 - 8 1267 c.1062C>T c.(1060-1062)gaC>gaT p.D354D ACSBG1_ENST00000560817.1_Silent_p.D112D|ACSBG1_ENST00000541759.1_Silent_p.D112D NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 354 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CCTTCAGGGCGTCGGGTTCGG 0.607000 12 35 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29301248 29301248 + Silent SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chrX:29301248C>T ENST00000378993.1 + 3 949 c.276C>T c.(274-276)gaC>gaT p.D92D IL1RAPL1_ENST00000302196.4_Silent_p.D92D NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 92 Ig-like C2-type 1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TAGCCTTTGACGGAAGTAGAA 0.448000 34 13 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175049544 175049544 + Missense_Mutation SNP C C T rs140077325 TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr1:175049544C>T ENST00000239462.4 + 4 1143 c.1030C>T c.(1030-1032)Cat>Tat p.H344Y NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 344 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGCCCACAGCATCTACTTGC 0.507000 4 53 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 4 47 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58893556 58893556 + Silent SNP T T C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr11:58893556T>C ENST00000343597.3 + 4 2177 c.1986T>C c.(1984-1986)gtT>gtC p.V662V FAM111B_ENST00000411426.1_Silent_p.V632V|FAM111B_ENST00000529618.1_Silent_p.V632V NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 662 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 GCAAATTGGTTGCTTTGCATA 0.383000 10 96 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 80 0 0 1 0 0 FUNDC2P2 0 broad.mit.edu 37 2 84517924 84517924 + RNA SNP G G A TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr2:84517924G>A ENST00000331369.5 + 0 118 GTGTGTCCTCGCAAGACTAGC 0.587000 5 13 0 0 1 0 0 SOAT2 8435 broad.mit.edu 37 12 53509273 53509273 + Silent SNP G G A rs151267658 TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr12:53509273G>A ENST00000301466.3 + 6 603 c.543G>A c.(541-543)ccG>ccA p.P181P NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 181 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding p.P181P(1) endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 TGTTGGCGCCGTACCAGGCCC 0.677000 21 34 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664639 22664639 + RNA SNP G G A rs9306349 by1000genomes TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr22:22664639G>A ENST00000426066.1 + 0 820 NR_027293.1 CCAGCCTTCTGTAACCCAGTA 0.428000 3 29 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 419627 419627 + Splice_Site SNP T T C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr3:419627T>C ENST00000256509.2 + 16 2518 c.e16+2 CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Splice_Site NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTGTTCTTGGTAAGTGCACTA 0.393000 3 63 0 0 1 0 0 PACS2 23241 broad.mit.edu 37 14 105818794 105818794 + Missense_Mutation SNP T T C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr14:105818794T>C ENST00000447393.1 + 3 462 c.287T>C c.(286-288)tTc>tCc p.F96S PACS2_ENST00000547217.1_Intron|PACS2_ENST00000325438.8_Missense_Mutation_p.F96S|PACS2_ENST00000458164.2_Missense_Mutation_p.F96S|PACS2_ENST00000430725.2_Missense_Mutation_p.F29S NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 96 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GCCCTGACCTTCTCCTTGCAG 0.607000 OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 47 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144768388 144768388 + Missense_Mutation SNP A A C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr6:144768388A>C ENST00000367545.3 + 14 1656 c.1656A>C c.(1654-1656)ttA>ttC p.L552F NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 552 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AAGAGGCTTTAAATAAAGTCC 0.363000 14 20 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368321 40368321 + Missense_Mutation SNP G G A rs146255832 byFrequency TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr19:40368321G>A ENST00000221347.6 - 28 13034 c.13027C>T c.(13027-13029)Cgg>Tgg p.R4343W NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4343 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACCTGTGCCCGCCAGTCTTCG 0.647000 4 113 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089586 86089586 + Missense_Mutation SNP G G T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr14:86089586G>T ENST00000330753.4 + 2 2495 c.1728G>T c.(1726-1728)aaG>aaT p.K576N FLRT2_ENST00000554746.1_Missense_Mutation_p.K576N NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 576 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CCTCCCAGAAGTGGAAATACA 0.542000 4 100 0.150653 0.150653 1 1 0 RGPD4 285190 broad.mit.edu 37 2 108487522 108487522 + Missense_Mutation SNP T T C TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr2:108487522T>C ENST00000408999.3 + 20 3139 c.3062T>C c.(3061-3063)tTt>tCt p.F1021S RGPD4_ENST00000354986.4_Missense_Mutation_p.F1021S NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1021 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCCGGTGACTTTGAGAAAGAT 0.383000 4 264 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703754 4703754 + Missense_Mutation SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr11:4703754C>T ENST00000396950.3 - 2 427 c.188G>A c.(187-189)tGc>tAc p.C63Y NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) TGCAAGCATGCAGAGAAAGAG 0.502000 3 45 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148865535 148865535 + Nonsense_Mutation SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr6:148865535C>T ENST00000367467.3 + 18 3404 c.2929C>T c.(2929-2931)Cag>Tag p.Q977* NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 977 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GCAGAGAATGCAGCCCAAAAT 0.567000 4 63 0 0 1 0 0 CDSN 1041 broad.mit.edu 37 6 31084574 31084574 + Missense_Mutation SNP C C T TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr6:31084574C>T ENST00000376288.2 - 2 844 c.818G>A c.(817-819)tGt>tAt p.C273Y PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 273 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 ACCATTGCTACAGGGGGGACC 0.602000 11 31 0 0 1 0 0 USE1 55850 broad.mit.edu 37 19 17330466 17330466 + Silent SNP G G A rs146606083 by1000genomes TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr19:17330466G>A ENST00000445667.2 + 8 684 c.624G>A c.(622-624)gcG>gcA p.A208A USE1_ENST00000596136.1_3'UTR|USE1_ENST00000263897.5_Silent_p.A208A|USE1_ENST00000379776.4_3'UTR Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog (S. cerevisiae) 208 lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|endometrium(1)|lung(3) 6 TGAAAATGGCGGACCAGAACC 0.562000 10 27 0 0 1 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43630134 43630136 + In_Frame_Del DEL TCT TCT - TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr1:43630134_43630136delTCT ENST00000431635.2 - 10 1212_1214 c.1064_1066delAGA c.(1063-1068)atg>a p.KM355del EBNA1BP2_ENST00000236051.2_In_Frame_Del_p.KM300del NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 300 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGTTCTTCATCTTCTCTCTTGT 0.424 32 50 --- --- --- --- SLC26A1 10861 broad.mit.edu 37 4 983352 983352 + Frame_Shift_Del DEL C C - TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr4:983352delC ENST00000361661.2 - 4 1752 c.1375delG c.(1375-1377)acfs p.D459fs SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398516.2_Frame_Shift_Del_p.D459fs NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 459 DL -> GF (in Ref. 1; AAG22075). integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGCGGGAGGTCCCACACCTTG 0.716 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 2 4 --- --- --- --- RP11-453F18__B.1 0 broad.mit.edu 37 X 130929881 130929881 + RNA DEL C C - TCGA-EJ-A7NF-01A-11D-A33T-08 TCGA-EJ-A7NF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a1f24ca-9ea6-45b4-aae1-2174a9670065 db974012-6d0c-44c3-ae87-e0f05d96abdc g.chrX:130929881delC ENST00000427391.1 - 0 1040 NR_026975.1 TCCTTGTGGGCCAGTGTGTAG 0.647 2 4 --- --- --- ---