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 ANKRD17 26057 broad.mit.edu 37 4 73987424 73987424 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:73987424G>A ENST00000358602.4 - 19 3661 c.3545C>T c.(3544-3546)tCt>tTt p.S1182F ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.S1069F|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S931F NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1182 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGTGTAATCAGAAACATTCCT 0.373000 16 41 0 0 0.004990 0 0 IGLV5-45 28781 broad.mit.edu 37 22 22730670 22730670 + RNA SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:22730670C>T ENST00000390296.2 + 0 193 ACAGGATATACTGGTACCAGC 0.557000 5 138 0 0 0.013537 0 0 KLK6 5653 broad.mit.edu 37 19 51470571 51470571 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:51470571C>T ENST00000376851.3 - 3 490 c.51G>A c.(49-51)gaG>gaA p.E17E KLK6_ENST00000376853.4_Silent_p.E17E|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000310157.2_Silent_p.E17E|KLK6_ENST00000594641.1_Silent_p.E17E NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 17 amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TATTCTGCTCCTCTGCCCAGG 0.567000 13 30 0 0 0.003163 0 0 SFTPB 6439 broad.mit.edu 37 2 85893805 85893805 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:85893805G>A ENST00000342375.3 - 5 463 c.328C>T c.(328-330)Ccc>Tcc p.P110S SFTPB_ENST00000409383.1_Missense_Mutation_p.P122S|SFTPB_ENST00000393822.3_Missense_Mutation_p.P122S|SFTPB_ENST00000519937.2_Missense_Mutation_p.P110S NM_000542.3|NM_198843.2 NP_000533.3|NP_942140.2 P07988 PSPB_HUMAN surfactant protein B 110 Saposin B-type 1. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 TTGCACTGGGGCATGAGCAGC 0.612000 28 118 0 0 0.009535 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291234 141291234 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:141291234C>T ENST00000247452.3 - 3 887 c.540G>A c.(538-540)gtG>gtA p.V180V NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 180 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCTTGAGTATCACAGGAAAGT 0.478000 HNSCC(46;0.14) 56 143 0 0 0.014410 0 0 TRBV10-2 28584 broad.mit.edu 37 7 142206977 142206977 + RNA SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:142206977G>A ENST00000426318.2 - 0 34 TCCAGGGCAGGATCTTGTGTC 0.552000 26 26 0 0 0.007291 0 0 PROS1 5627 broad.mit.edu 37 3 93615531 93615531 + Missense_Mutation SNP A A T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:93615531A>T ENST00000394236.3 - 9 1170 c.854T>A c.(853-855)gTt>gAt p.V285D PROS1_ENST00000407433.1_Missense_Mutation_p.V154D NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 285 leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GCACACTGAAACAACCTGGAA 0.353000 10 101 0 0 0.008291 0 0 ACRC 93953 broad.mit.edu 37 X 70823686 70823686 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:70823686G>A ENST00000373695.1 + 7 1096 c.559G>A c.(559-561)Gat>Aat p.D187N ACRC_ENST00000373696.3_Missense_Mutation_p.D187N Q96QF7 ACRC_HUMAN acidic repeat containing 187 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TGATGATTCGGATGTTCCCGA 0.493000 22 201 0 0 0.014323 0 0 ACAN 176 broad.mit.edu 37 15 89402335 89402335 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:89402335C>T ENST00000439576.2 + 12 6893 c.6519C>T c.(6517-6519)acC>acT p.T2173T ACAN_ENST00000561243.1_Silent_p.T2173T|ACAN_ENST00000559004.1_Silent_p.T2173T|ACAN_ENST00000352105.7_Silent_p.T2173T NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2173 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AATCCACCACCACCAGTGATG 0.582000 23 80 0 0 0.012319 0 0 IRF2 3660 broad.mit.edu 37 4 185310022 185310022 + Missense_Mutation SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:185310022A>C ENST00000393593.3 - 9 1147 c.940T>G c.(940-942)Tct>Gct p.S314A NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 314 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) ATGGAGGAAGAAAGGGGGAGG 0.587000 9 56 0 0 0.004482 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128035 117128035 + Missense_Mutation SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:117128035A>C ENST00000310357.3 - 3 854 c.833T>G c.(832-834)cTg>cGg p.L278R GPRC6A_ENST00000368549.3_Missense_Mutation_p.L278R|GPRC6A_ENST00000530250.1_Intron NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 278 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GAATTGCCTCAGAAATACCAC 0.353000 21 36 0 0 0.010504 0 0 DNAH7 56171 broad.mit.edu 37 2 196602695 196602695 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:196602695C>T ENST00000312428.6 - 65 12125 c.12025G>A c.(12025-12027)Gaa>Aaa p.E4009K DNAH7_ENST00000409063.1_Missense_Mutation_p.E492K|DNAH7_ENST00000484183.1_5'UTR NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 4009 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCCAGTGTTCCTTGGGTTGG 0.443000 7 27 0 0 0.004482 0 0 HK2 3099 broad.mit.edu 37 2 75117984 75117984 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:75117984C>T ENST00000290573.2 + 18 3270 c.2670C>T c.(2668-2670)ttC>ttT p.F890F HK2_ENST00000409174.1_Silent_p.F862F NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 890 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity p.F890F(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 ATGTGTCTTTCCTGCAGTCAG 0.552000 47 149 0 0 0.014410 0 0 PLAC8 51316 broad.mit.edu 37 4 84026067 84026067 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:84026067C>T ENST00000426923.2 - 3 303 c.225G>A c.(223-225)agG>agA p.R75R PLAC8_ENST00000509973.1_Silent_p.R18R|PLAC8_ENST00000311507.4_Silent_p.R75R|PLAC8_ENST00000411416.2_Silent_p.R75R|PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000505406.1_Silent_p.R75R NM_001130715.1 NP_001124187.1 Q9NZF1 PLAC8_HUMAN placenta-specific 8 75 large_intestine(2)|lung(3)|ovary(1) 6 Hepatocellular(203;0.114) CATATCGGGTCCTGTAGAGAG 0.433000 22 59 0 0 0.002780 0 0 MST1L 11223 broad.mit.edu 37 1 17084276 17084276 + RNA SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:17084276C>T ENST00000455405.2 - 0 532 CCTGCAATCTCACACTTGGTC 0.587000 34 404 0 0 0.006999 0 0 COL4A1 1282 broad.mit.edu 37 13 110850886 110850886 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:110850886C>T ENST00000375820.4 - 21 1334 c.1213G>A c.(1213-1215)Gga>Aga p.G405R COL4A1_ENST00000543140.1_Missense_Mutation_p.G405R NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 405 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCACTTGGTCCTGGCAGAGAT 0.592000 20 53 0 0 0.008871 0 0 SAMSN1 64092 broad.mit.edu 37 21 15858413 15858413 + Silent SNP T T C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:15858413T>C ENST00000285670.2 - 9 1320 c.1146A>G c.(1144-1146)gaA>gaG p.E382E SAMSN1_ENST00000400564.1_Silent_p.E146E|SAMSN1_ENST00000400566.1_Silent_p.E314E NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 314 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GGGGCTCAGGTTCATTTTCTT 0.388000 11 22 0 0 0.013537 0 0 OR8B2 26595 broad.mit.edu 37 11 124252384 124252384 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:124252384G>A ENST00000375013.2 - 1 874 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TAGATGAGGGGATTGAGCATG 0.383000 19 49 0 0 0.007413 0 0 RGPD3 653489 broad.mit.edu 37 2 107073477 107073477 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:107073477C>T ENST00000409886.3 - 4 442 c.355G>A c.(355-357)Gaa>Aaa p.E119K RGPD3_ENST00000304514.7_Missense_Mutation_p.E119K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 119 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GCTGCTCTTTCCACCCAGTAT 0.343000 45 178 0 0 0.014410 0 0 SEC14L5 9717 broad.mit.edu 37 16 5053559 5053559 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:5053559C>T ENST00000251170.7 + 11 1467 c.1287C>T c.(1285-1287)ccC>ccT p.P429P NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 429 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GAGTCTTCCCCGTGCTCTGGA 0.637000 15 31 0 0 0.004007 0 0 SHQ1 55164 broad.mit.edu 37 3 72866508 72866508 + Missense_Mutation SNP T T A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:72866508T>A ENST00000325599.8 - 7 894 c.755A>T c.(754-756)cAg>cTg p.Q252L SHQ1_ENST00000463369.1_Missense_Mutation_p.Q224L NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 252 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TTTTCGTAGCTGATACTTCTC 0.348000 8 36 0 0 0.003080 0 0 C16orf11 146325 broad.mit.edu 37 16 614009 614009 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:614009G>A ENST00000409413.3 + 2 994 c.715G>A c.(715-717)Gcc>Acc p.A239T NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 239 Pro-rich. central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 CCTGGCCTCGGCCAGCCCCCT 0.726000 6 11 0 0 0.001984 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 70 0 0 0.004672 0 0 OR10G3 26533 broad.mit.edu 37 14 22038000 22038000 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:22038000C>T ENST00000303532.1 - 1 875 c.876G>A c.(874-876)cgG>cgA p.R292R NM_001005465.1 NP_001005465.1 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, member 3 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7) 15 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) CCTCTTGGTTCCGCAGAGTGT 0.552000 17 56 0 0 0.006122 0 0 POTEE 445582 broad.mit.edu 37 2 132021834 132021834 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:132021834C>T ENST00000356920.5 + 15 2900 c.2806C>T c.(2806-2808)Cta>Tta p.L936L PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 936 Actin-like. ATP binding CAGCTCCTCCCTAGAGAAGAG 0.622000 20 223 0 0 0.007413 0 0 IGSF8 93185 broad.mit.edu 37 1 160062370 160062370 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:160062370G>A ENST00000368086.1 - 5 1644 c.1428C>T c.(1426-1428)gcC>gcT p.A476A IGSF8_ENST00000314485.7_Silent_p.A476A Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 476 Ig-like C2-type 4. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ACCAGCTGGCGGCCAGCCGCA 0.682000 8 19 0 0 0.006214 0 0 KDM3B 51780 broad.mit.edu 37 5 137766083 137766083 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:137766083C>T ENST00000314358.5 + 22 5239 c.5039C>T c.(5038-5040)gCt>gTt p.A1680V KDM3B_ENST00000394866.1_Missense_Mutation_p.A1336V|KDM3B_ENST00000542866.1_Missense_Mutation_p.A712V NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1680 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CTAGGTGATGCTGTTTTCATA 0.512000 29 98 0 0 0.008361 0 0 NDNF 79625 broad.mit.edu 37 4 121957793 121957793 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:121957793G>A ENST00000379692.4 - 4 1859 c.1333C>T c.(1333-1335)Ccc>Tcc p.P445S NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 445 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 GGAAGAGAGGGAAATGACTGC 0.448000 14 116 0 0 0.004990 0 0 PRKG1 5592 broad.mit.edu 37 10 54031112 54031112 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:54031112C>T ENST00000373980.4 + 11 1593 c.1176C>T c.(1174-1176)gtC>gtT p.V392V PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Silent_p.V377V|PRKG1_ENST00000373975.2_Silent_p.V95V|PRKG1_ENST00000373985.1_Silent_p.V365V|PRKG1-AS1_ENST00000426785.2_RNA NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 377 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TCTTTAAGGTCCAGTTGAAAA 0.408000 5 16 0 0 0.000602 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1808199 1808199 + Silent SNP C C T rs151043667 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:1808199C>T ENST00000518288.1 + 5 565 c.402C>T c.(400-402)ccC>ccT p.P134P ARHGEF10_ENST00000262112.6_Silent_p.P134P|ARHGEF10_ENST00000398564.1_Silent_p.P134P|ARHGEF10_ENST00000520359.1_Silent_p.P110P|ARHGEF10_ENST00000398560.1_Silent_p.P134P|ARHGEF10_ENST00000349830.3_Silent_p.P110P O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 134 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CCCCCGTGCCCAGCGCTGAGG 0.622000 20 78 0 0 0.007413 0 0 SLC4A10 57282 broad.mit.edu 37 2 162815020 162815020 + Nonsense_Mutation SNP T T G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:162815020T>G ENST00000375514.5 + 21 3047 c.2760T>G c.(2758-2760)taT>taG p.Y920* SLC4A10_ENST00000446997.1_Nonsense_Mutation_p.Y939*|SLC4A10_ENST00000272716.5_Nonsense_Mutation_p.Y909*|SLC4A10_ENST00000421911.1_Nonsense_Mutation_p.Y939*|SLC4A10_ENST00000415876.2_Nonsense_Mutation_p.Y909* NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 939 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CAGTGCTATATGGAGTGTTTC 0.348000 7 32 0 0 0.003080 0 0 ORC1 4998 broad.mit.edu 37 1 52859236 52859236 + Nonsense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:52859236G>A ENST00000371568.3 - 6 1179 c.961C>T c.(961-963)Cga>Tga p.R321* ORC1_ENST00000371566.1_Nonsense_Mutation_p.R321* NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 321 cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GCTGCAATTCGGGTTCTCAGG 0.478000 16 105 0 0 0.007413 0 0 RLIM 51132 broad.mit.edu 37 X 73812410 73812410 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:73812410G>A ENST00000332687.6 - 4 958 c.740C>T c.(739-741)tCa>tTa p.S247L RLIM_ENST00000349225.2_Missense_Mutation_p.S247L NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 247 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGTCTGAGATGAGATACTATG 0.473000 12 99 0 0 0.013537 0 0 NDUFA9 4704 broad.mit.edu 37 12 4758313 4758313 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:4758313C>T ENST00000266544.5 + 1 41 c.21C>T c.(19-21)tcC>tcT p.S7S NDUFA9_ENST00000542369.1_3'UTR NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 7 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) CCGCACAATCCCGGGTTGTCC 0.587000 4 17 0 0 0.009096 0 0 CR2 1380 broad.mit.edu 37 1 207644123 207644123 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:207644123G>A ENST00000367057.3 + 7 1453 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K CR2_ENST00000367059.3_Missense_Mutation_p.E422K|CR2_ENST00000458541.2_Missense_Mutation_p.E422K|CR2_ENST00000367058.3_Missense_Mutation_p.E422K NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 422 Sushi 7. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.E422K(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TGGGCAAAAGGAAGATAGACA 0.423000 12 46 0 0 0.013537 0 0 HMHA1 23526 broad.mit.edu 37 19 1081008 1081008 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:1081008C>G ENST00000313093.2 + 17 2366 c.2135C>G c.(2134-2136)gCc>gGc p.A712G HMHA1_ENST00000536472.1_Missense_Mutation_p.A580G|HMHA1_ENST00000539243.2_Missense_Mutation_p.A728G|HMHA1_ENST00000543365.1_Missense_Mutation_p.A595G|HMHA1_ENST00000590577.1_Missense_Mutation_p.A347G|HMHA1_ENST00000590214.1_Missense_Mutation_p.A739G|HMHA1_ENST00000586866.1_Missense_Mutation_p.A716G NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 712 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCACGCCCGCCAAGTGCCGC 0.692000 4 10 0 0 0.009096 0 0 COL12A1 1303 broad.mit.edu 37 6 75899338 75899338 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:75899338C>T ENST00000322507.8 - 6 897 c.588G>A c.(586-588)caG>caA p.Q196Q COL12A1_ENST00000416123.2_Silent_p.Q196Q|COL12A1_ENST00000483888.2_Silent_p.Q196Q|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 196 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTTGGTAGTACTGATTTAAGT 0.358000 12 61 0 0 0.013537 0 0 COL18A1 80781 broad.mit.edu 37 21 46916433 46916433 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:46916433G>C ENST00000359759.4 + 29 3794 c.3773G>C c.(3772-3774)gGa>gCa p.G1258A COL18A1_ENST00000355480.5_Missense_Mutation_p.G1023A|COL18A1_ENST00000400337.2_Missense_Mutation_p.G843A|COL18A1_ENST00000459895.1_3'UTR P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1258 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGCCCCCCAGGACCTCCAGGG 0.617000 15 97 0 0 0.007413 0 0 SCAND3 114821 broad.mit.edu 37 6 28541106 28541106 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:28541106C>T ENST00000452236.2 - 4 3177 c.2560G>A c.(2560-2562)Gaa>Aaa p.E854K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 854 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 cccaacatttccaagcaaact 0.438000 31 93 0 0 0.012213 0 0 OR2C1 4993 broad.mit.edu 37 16 3406086 3406086 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:3406086C>T ENST00000304936.2 + 1 198 c.146C>T c.(145-147)tCc>tTc p.S49F NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ATCTTGCTTTCCCGCCTGGAG 0.512000 29 133 0 0 0.010818 0 0 DIS3L 115752 broad.mit.edu 37 15 66604071 66604071 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:66604071G>A ENST00000319194.5 + 5 580 c.319G>A c.(319-321)Gac>Aac p.D107N DIS3L_ENST00000441424.2_Missense_Mutation_p.D56N|DIS3L_ENST00000319212.4_Missense_Mutation_p.D190N NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 190 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GAATTACCTGGACAATTTCTG 0.443000 19 80 0 0 0.008871 0 0 PSG8 440533 broad.mit.edu 37 19 43258474 43258474 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:43258474G>A ENST00000306511.4 - 5 1351 c.1254C>T c.(1252-1254)atC>atT p.I418I PSG8_ENST00000404209.4_Intron|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Intron NM_182707.2 NP_874366.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 418 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) AGGATACTGGGATCCGCTTAC 0.488000 62 348 0 0 0.014410 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036435 21036435 + Missense_Mutation SNP T T A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:21036435T>A ENST00000381545.3 + 13 1800 c.1581T>A c.(1579-1581)gaT>gaA p.D527E SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.D527E|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D527E|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D527E NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 527 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GCCCAAGAGATAATACTTGTA 0.358000 17 35 0 0 0.006122 0 0 CLN3 1201 broad.mit.edu 37 16 28493690 28493690 + Missense_Mutation SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:28493690A>C ENST00000569430.1 - 14 1739 c.920T>G c.(919-921)tTt>tGt p.F307C CLN3_ENST00000359984.7_Missense_Mutation_p.F307C|CLN3_ENST00000355477.5_Missense_Mutation_p.F259C|CLN3_ENST00000360019.2_Missense_Mutation_p.F307C|CLN3_ENST00000568224.1_Missense_Mutation_p.F229C|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357806.7_Missense_Mutation_p.F208C|CLN3_ENST00000357857.9_Missense_Mutation_p.F253C|CLN3_ENST00000535392.1_Missense_Mutation_p.F229C|CLN3_ENST00000354630.5_Missense_Mutation_p.F290C|CLN3_ENST00000333496.9_Missense_Mutation_p.F283C|CLN3_ENST00000565316.1_Missense_Mutation_p.F290C|CLN3_ENST00000357076.5_Missense_Mutation_p.F197C|CLN3_ENST00000395653.4_Missense_Mutation_p.F207C Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 307 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 GTTCCAGAAAAAGAGGAGTTC 0.612000 9 22 0 0 0.006214 0 0 NUFIP1 26747 broad.mit.edu 37 13 45515431 45515431 + Missense_Mutation SNP T T G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:45515431T>G ENST00000379161.4 - 10 1444 c.1398A>C c.(1396-1398)gaA>gaC p.E466D NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 466 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) TCACATTTCTTTCATGTCGAA 0.328000 8 18 0 0 0.003080 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310792 75310792 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:75310792G>A ENST00000361900.6 + 7 636 c.429G>A c.(427-429)acG>acA p.T143T SCAMP5_ENST00000562212.1_Silent_p.T151T|SCAMP5_ENST00000425597.3_Silent_p.T143T|SCAMP5_ENST00000545456.1_Silent_p.T72T|SCAMP5_ENST00000568081.1_Silent_p.T76T NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 143 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 TCTTCGGAACGAACATTGGCT 0.592000 61 157 0 0 0.014410 0 0 PXDNL 137902 broad.mit.edu 37 8 52321550 52321550 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:52321550C>T ENST00000356297.4 - 17 2734 c.2634G>A c.(2632-2634)gtG>gtA p.V878V PXDNL_ENST00000543296.1_Silent_p.V878V NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 878 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGACTGAATCCACCGTCGCAG 0.657000 11 34 0 0 0.008291 0 0 SLC5A8 160728 broad.mit.edu 37 12 101555774 101555774 + Silent SNP C C T rs137882804 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:101555774C>T ENST00000536262.2 - 13 2166 c.1608G>A c.(1606-1608)ggG>ggA p.G536G NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 536 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGACAAGTATCCCCACTAATA 0.323000 32 152 0 0 0.003755 0 0 STAG3L4 64940 broad.mit.edu 37 7 66773610 66773610 + RNA SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:66773610C>T ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) ACTCAGAGATCATCCAGCACC 0.428000 78 78 0 0 0.014410 0 0 SLC6A13 6540 broad.mit.edu 37 12 344305 344305 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:344305C>T ENST00000343164.4 - 7 834 c.782G>A c.(781-783)gGa>gAa p.G261E SLC6A13_ENST00000445055.2_Missense_Mutation_p.G169E NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 261 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) AAACTGAATTCCTTGGGCTGC 0.557000 14 45 0 0 0.003163 0 0 SF3B1 23451 broad.mit.edu 37 2 198266520 198266520 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:198266520G>A ENST00000335508.5 - 16 2407 c.2316C>T c.(2314-2316)atC>atT p.I772I NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 772 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTCGAATAAGGATTAACATCA 0.348000 Mis myelodysplastic syndrome 8 57 0 0 0.004482 0 0 MAN2B1 4125 broad.mit.edu 37 19 12766548 12766548 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:12766548G>A ENST00000456935.2 - 14 1830 c.1790C>T c.(1789-1791)cCc>cTc p.P597L MAN2B1_ENST00000221363.4_Missense_Mutation_p.P596L NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 597 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGATCTTCTGGGGATGGGCTG 0.572000 29 125 0 0 0.003271 0 0 SPG7 6687 broad.mit.edu 37 16 89598917 89598917 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:89598917C>T ENST00000268704.2 + 9 1212 c.1197C>T c.(1195-1197)gcC>gcT p.A399A SPG7_ENST00000341316.2_Silent_p.A399A NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 399 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) AAGCCCGAGCCCGGGCCCCCT 0.597000 17 50 0 0 0.004990 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090792 115090792 + Missense_Mutation SNP T T C rs139821586 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:115090792T>C ENST00000361283.1 + 3 1784 c.1475T>C c.(1474-1476)gTc>gCc p.V492A NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 492 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding CAGAAACCTGTCTTCCCTGAG 0.502000 70 157 0 0 0.014410 0 0 ZNF283 284349 broad.mit.edu 37 19 44352211 44352211 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:44352211C>T ENST00000324461.7 + 7 1755 c.1458C>T c.(1456-1458)tcC>tcT p.S486S ZNF283_ENST00000588797.1_Silent_p.S347S NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) GTGAGAAATCCCATGAATGTA 0.403000 24 144 0 0 0.014323 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050146 42050146 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:42050146C>T ENST00000372584.1 - 3 1337 c.323G>A c.(322-324)gGc>gAc p.G108D HIVEP3_ENST00000372583.1_Missense_Mutation_p.G108D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G108D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G108D NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 108 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCAGGTTTGCCAGGCGACAT 0.622000 33 128 0 0 0.013726 0 0 FAM181A 90050 broad.mit.edu 37 14 94395153 94395153 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:94395153G>A ENST00000267594.5 + 3 1015 c.708G>A c.(706-708)ttG>ttA p.L236L FAM181A_ENST00000557000.2_Silent_p.L174L|FAM181A_ENST00000556222.1_Silent_p.L174L|FAM181A_ENST00000557719.1_Silent_p.L174L NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 236 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GCAAGGGCTTGGAGCCCCTGG 0.632000 7 28 0 0 0.001984 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124229502 124229502 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:124229502C>T ENST00000330342.3 + 13 1836 c.1588C>T c.(1588-1590)Ccc>Tcc p.P530S NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 530 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) AGGCCCTTATCCCCTTGGCAT 0.537000 7 42 0 0 0.003080 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973427 29973427 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:29973427G>A ENST00000378993.1 + 11 2254 c.1581G>A c.(1579-1581)ctG>ctA p.L527L IL1RAPL1_ENST00000302196.4_Silent_p.L527L NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 527 TIR. 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 TGGAGGCCCTGAAGCACACCA 0.423000 12 33 0 0 0.010729 0 0 KRT72 140807 broad.mit.edu 37 12 52981545 52981545 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:52981545C>T ENST00000293745.2 - 7 1265 c.1180G>A c.(1180-1182)Ggc>Agc p.G394S KRT72_ENST00000354310.4_Missense_Mutation_p.G352S|KRT72_ENST00000537672.2_Missense_Mutation_p.G394S|KRT72_ENST00000398066.3_Missense_Mutation_p.G206S NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 394 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TGCAGGGCGCCCTCCAGCTCA 0.657000 16 63 0 0 0.004990 0 0 MPZL2 10205 broad.mit.edu 37 11 118130808 118130808 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:118130808C>T ENST00000278937.2 - 4 673 c.545G>A c.(544-546)cGa>cAa p.R182Q MPZL2_ENST00000438295.2_Missense_Mutation_p.R182Q NM_005797.3 NP_005788.1 O60487 MPZL2_HUMAN myelin protein zero-like 2 182 anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1) 11 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) TTCGGCCCATCGCTTTTTCCG 0.468000 74 229 0 0 0.014410 0 0 TXNL1 9352 broad.mit.edu 37 18 54291641 54291641 + Nonsense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr18:54291641G>A ENST00000217515.6 - 3 451 c.247C>T c.(247-249)Cga>Tga p.R83* TXNL1_ENST00000590954.1_Nonsense_Mutation_p.R83*|TXNL1_ENST00000540155.1_5'UTR NM_004786.2 NP_004777.1 O43396 TXNL1_HUMAN thioredoxin-like 1 83 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) ACTTTGTTTCGAAAAAACAAA 0.373000 34 106 0 0 0.003755 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665054 6665054 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:6665054G>A ENST00000326176.9 - 5 879 c.498C>T c.(496-498)ttC>ttT p.F166F TNFSF14_ENST00000599359.1_Silent_p.F202F|TNFSF14_ENST00000245912.3_Silent_p.F166F NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 202 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 CACCACCCAGGAAGCTGCTGT 0.652000 38 22 0 0 0.004878 0 0 RFX6 222546 broad.mit.edu 37 6 117245873 117245873 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:117245873C>T ENST00000332958.2 + 15 1613 c.1597C>T c.(1597-1599)Ctc>Ttc p.L533F NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 533 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGAATACATTCTCCTGGCCAT 0.363000 10 60 0 0 0.008291 0 0 LRFN2 57497 broad.mit.edu 37 6 40400278 40400278 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:40400278G>A ENST00000338305.6 - 2 1117 c.575C>T c.(574-576)aCc>aTc p.T192I NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 192 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GTCTGCAAAGGTGCCCTCGGC 0.627000 12 67 0 0 0.002450 0 0 LTBP4 8425 broad.mit.edu 37 19 41113436 41113436 + Splice_Site SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:41113436G>A ENST00000308370.7 + 10 1357 c.e10+1 LTBP4_ENST00000396819.3_Splice_Site|LTBP4_ENST00000545697.1_Splice_Site|LTBP4_ENST00000204005.9_Splice_Site|LTBP4_ENST00000602240.1_Splice_Site NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCGGCTCAGGTGAGCCCCTG 0.647000 8 8 0 0 0.003080 0 0 RYR1 6261 broad.mit.edu 37 19 38983275 38983275 + Splice_Site SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:38983275C>T ENST00000355481.4 + 38 6404 c.6274_splice c.e38+1 p.P2091_splice RYR1_ENST00000359596.3_Splice_Site_p.P2091_splice|RYR1_ENST00000360985.3_Splice_Site_p.P2091_splice NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2091 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGAGCAAACCCCGTGAGGACT 0.627000 4 18 0 0 0.009096 0 0 NONO 4841 broad.mit.edu 37 X 70514159 70514159 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:70514159C>T ENST00000535149.1 + 3 807 c.164C>T c.(163-165)gCc>gTc p.A55V NONO_ENST00000276079.8_Missense_Mutation_p.A144V|NONO_ENST00000373841.1_Missense_Mutation_p.A144V|NONO_ENST00000373856.3_Missense_Mutation_p.A144V|NONO_ENST00000490044.1_3'UTR NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 144 DBHS. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) GTGCGCTTTGCCTGCCATAGT 0.522000 T TFE3 papillary renal cancer 11 59 0 0 0.013537 0 0 RAVER2 55225 broad.mit.edu 37 1 65255083 65255083 + Nonsense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:65255083C>T ENST00000294428.3 + 5 1069 c.991C>T c.(991-993)Caa>Taa p.Q331* RAVER2_ENST00000430964.2_Nonsense_Mutation_p.Q37*|RAVER2_ENST00000371072.4_Nonsense_Mutation_p.Q331* Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 331 cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 GCACAGTAATCAAAAGGGCTT 0.368000 9 24 0 0 0.004482 0 0 MAP3K15 389840 broad.mit.edu 37 X 19390815 19390815 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:19390815C>T ENST00000338883.4 - 22 3063 c.3064G>A c.(3064-3066)Gag>Aag p.E1022K MAP3K15_ENST00000359173.3_Missense_Mutation_p.E457K|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E854K NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1022 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TGGTTCTGCTCCTCCCAGAGG 0.647000 OREG0019699 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 63 0 0 0.004482 0 0 NLGN1 22871 broad.mit.edu 37 3 173322668 173322668 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:173322668C>T ENST00000457714.1 + 3 709 c.280C>T c.(280-282)Cgt>Tgt p.R94C NLGN1_ENST00000545397.1_Missense_Mutation_p.R94C|NLGN1_ENST00000401917.3_Missense_Mutation_p.R94C|NLGN1_ENST00000361589.4_Missense_Mutation_p.R94C NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 94 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AGGGGAACGTCGTTTTCAGCC 0.453000 46 83 0 0 0.014410 0 0 OR1L1 26737 broad.mit.edu 37 9 125424517 125424517 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:125424517C>T ENST00000373686.1 + 1 673 c.673C>T c.(673-675)Cat>Tat p.H225Y Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, member 1 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 AAATGTCATCCATCACTTTTT 0.428000 51 175 0 0 0.014410 0 0 MAPRE1 22919 broad.mit.edu 37 20 31427587 31427587 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:31427587G>A ENST00000375571.5 + 5 661 c.522G>A c.(520-522)aaG>aaA p.K174K NM_012325.2 NP_036457.1 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, member 1 174 Interaction with MTUS2/TIP150. cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 CGGCTCCTAAGGCTGGCCCTG 0.557000 74 217 0 0 0.014410 0 0 TLR2 7097 broad.mit.edu 37 4 154625113 154625113 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:154625113C>T ENST00000260010.6 + 1 2462 c.1054C>T c.(1054-1056)Cct>Tct p.P352S NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 352 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TTTTCTGGTTCCTTGTTTACT 0.303000 14 37 0 0 0.001855 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72024626 72024626 + Silent SNP T T A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:72024626T>A ENST00000378743.3 - 17 3937 c.3579A>T c.(3577-3579)acA>acT p.T1193T NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1193 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CATCATTACATGTTCCTGTTA 0.333000 14 36 0 0 0.002450 0 0 CRYZL1 9946 broad.mit.edu 37 21 34988899 34988899 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:34988899G>A ENST00000413017.2 - 6 320 c.273C>T c.(271-273)tcC>tcT p.S91S CRYZL1_ENST00000381540.3_Intron|CRYZL1_ENST00000290244.5_Intron|CRYZL1_ENST00000361534.2_Intron|CRYZL1_ENST00000381554.3_Intron|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 237 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding lung(1)|prostate(1)|urinary_tract(1) 3 cacccagccGGGAAAGTACTT 0.463000 4 7 0 0 0.009096 0 0 KLHL7 55975 broad.mit.edu 37 7 23180540 23180540 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:23180540C>G ENST00000322231.7 + 6 1019 c.529C>G c.(529-531)Ctg>Gtg p.L177V KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.L123V|KLHL7_ENST00000409689.1_Missense_Mutation_p.L151V|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000339077.4_Missense_Mutation_p.L199V|KLHL7_ENST00000545443.1_Missense_Mutation_p.L177V Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 199 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CCAGGACACTCTGACTGTGAG 0.353000 19 57 0 0 0.014323 0 0 COL18A1 80781 broad.mit.edu 37 21 46916434 46916434 + Silent SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:46916434A>C ENST00000359759.4 + 29 3795 c.3774A>C c.(3772-3774)ggA>ggC p.G1258G COL18A1_ENST00000355480.5_Silent_p.G1023G|COL18A1_ENST00000400337.2_Silent_p.G843G|COL18A1_ENST00000459895.1_3'UTR P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1258 Triple-helical region 6 (COL6). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GCCCCCCAGGACCTCCAGGGC 0.617000 15 100 0 0 0.007413 0 0 C2orf71 388939 broad.mit.edu 37 2 29295441 29295441 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:29295441C>T ENST00000331664.5 - 1 1686 c.1687G>A c.(1687-1689)Gac>Aac p.D563N NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 563 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TCAGACCAGTCCTGGTGCCCA 0.597000 15 47 0 0 0.006122 0 0 OR10G8 219869 broad.mit.edu 37 11 123900575 123900575 + Silent SNP T T G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:123900575T>G ENST00000431524.1 + 1 279 c.246T>G c.(244-246)acT>acG p.T82T NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGCTGATGACTTTGGTGTTCC 0.517000 26 68 0 0 0.006320 0 0 PLB1 151056 broad.mit.edu 37 2 28854914 28854914 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:28854914C>T ENST00000422425.2 + 54 3920 c.3876C>T c.(3874-3876)tcC>tcT p.S1292S PLB1_ENST00000541605.1_Silent_p.S268S|PLB1_ENST00000327757.5_Silent_p.S1303S NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1303 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) ATGGCATCTCCAGTTTCTCCT 0.557000 12 56 0 0 0.002450 0 0 DGCR5 26220 broad.mit.edu 37 22 18979458 18979458 + RNA SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:18979458G>A ENST00000438934.1 + 0 2809 DGCR5_ENST00000440005.2_RNA ATGGAGAAGCGAACCAAGCCT 0.577000 13 27 0 0 0.002450 0 0 CDK9 1025 broad.mit.edu 37 9 130549800 130549800 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:130549800C>T ENST00000373265.2 + 3 529 c.529C>T c.(529-531)Ccc>Tcc p.P177S CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373264.4_Missense_Mutation_p.P60S P50750 CDK9_HUMAN cyclin-dependent kinase 9 60 Protein kinase. cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription elongation factor complex ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(1) 1 CACCCAGTTCCCCATTACAGC 0.493000 11 55 0 0 0.001855 0 0 DCX 1641 broad.mit.edu 37 X 110653558 110653558 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:110653558C>T ENST00000338081.3 - 2 483 c.312G>A c.(310-312)atG>atA p.M104I DCX_ENST00000488120.1_Missense_Mutation_p.M23I|DCX_ENST00000371993.2_Missense_Mutation_p.M23I|DCX_ENST00000356220.3_Missense_Mutation_p.M23I|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.M23I NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 104 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GCAACCCATTCATCCGGGAGC 0.502000 35 92 0 0 0.003271 0 0 CACNA1H 8912 broad.mit.edu 37 16 1261270 1261270 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:1261270C>T ENST00000348261.5 + 22 4574 c.4326C>T c.(4324-4326)atC>atT p.I1442I CACNA1H_ENST00000565831.1_Silent_p.I1442I|CACNA1H_ENST00000358590.4_Silent_p.I1442I NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1442 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTTCTTCATCATTTTTGGCA 0.627000 23 95 0 0 0.003755 0 0 PCLO 27445 broad.mit.edu 37 7 82785402 82785402 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:82785402G>A ENST00000423517.2 - 2 892 c.555C>T c.(553-555)tcC>tcT p.S185S PCLO_ENST00000333891.8_Silent_p.S185S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 185 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTCTTCCTGGGATGCCTCAG 0.428000 22 21 0 0 0.002780 0 0 FBP2 8789 broad.mit.edu 37 9 97321399 97321399 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:97321399C>T ENST00000375337.3 - 7 907 c.841G>A c.(841-843)Gaa>Aaa p.E281K PCAT7_ENST00000452148.2_RNA NM_003837.2 NP_003828.2 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 281 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding endometrium(1)|large_intestine(3)|lung(5) 9 Acute lymphoblastic leukemia(62;0.136) GGATTGCATTCATACAGGAGC 0.592000 5 26 0 0 0.001168 0 0 ZNF366 167465 broad.mit.edu 37 5 71756366 71756366 + Nonsense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:71756366G>A ENST00000318442.5 - 2 1448 c.958C>T c.(958-960)Cag>Tag p.Q320* NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TGGCTGGTCTGGGTGAAGGCC 0.647000 6 28 0 0 0.001984 0 0 RCOR3 55758 broad.mit.edu 37 1 211469090 211469090 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:211469090C>T ENST00000367005.4 + 8 979 c.838C>T c.(838-840)Cct>Tct p.P280S RCOR3_ENST00000419091.2_Missense_Mutation_p.P338S|RCOR3_ENST00000452621.2_Missense_Mutation_p.P338S|RCOR3_ENST00000367006.4_Missense_Mutation_p.P338S NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) ATTCAAACCTCCTGAGGTATG 0.343000 3 16 0 0 0.004672 0 0 TBC1D3B 414059 broad.mit.edu 37 17 34499251 34499251 + Missense_Mutation SNP T T A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:34499251T>A ENST00000454519.3 - 7 609 c.460A>T c.(460-462)Agg>Tgg p.R154W CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.R154W NM_001001417.5 NP_001001417.5 A6NDS4 TBC3B_HUMAN TBC1 domain family, member 3B 154 Rab-GAP TBC. intracellular Rab GTPase activator activity endometrium(2)|lung(3)|pancreas(1) 6 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATATGCTTCCTTAATGTCCCG 0.562000 67 668 0 0 0.014410 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133692579 133692579 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:133692579C>G ENST00000310926.4 - 3 598 c.325G>C c.(325-327)Gct>Cct p.A109P SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A109P|SLCO2A1_ENST00000478651.1_5'UTR NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 109 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GCACCTGCAGCCAGGAAGAGA 0.577000 4 27 0 0 0.009096 0 0 CSMD3 114788 broad.mit.edu 37 8 113668566 113668566 + Nonsense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:113668566G>A ENST00000297405.5 - 18 3065 c.2821C>T c.(2821-2823)Cag>Tag p.Q941* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q837*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q941*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q901* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 941 CUB 5. 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 AGTTCAGTCTGAAATCTAAGA 0.333000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 40 0 0 0.004990 0 0 NCKAP5 344148 broad.mit.edu 37 2 133543033 133543033 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:133543033G>A ENST00000409261.1 - 14 1724 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P451S NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 451 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GTTTTGCAGGGGGGATACTCC 0.468000 11 40 0 0 0.008291 0 0 TACC2 10579 broad.mit.edu 37 10 123846376 123846376 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:123846376G>A ENST00000369005.1 + 4 4701 c.4361G>A c.(4360-4362)gGg>gAg p.G1454E TACC2_ENST00000515273.1_Missense_Mutation_p.G1454E|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.G1454E|TACC2_ENST00000334433.3_Missense_Mutation_p.G1454E|TACC2_ENST00000453444.2_Missense_Mutation_p.G1454E|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1454 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTCTAGATGGGCCTCCAGGA 0.592000 6 20 0 0 0.003080 0 0 SERPINA4 5267 broad.mit.edu 37 14 95029969 95029969 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:95029969G>A ENST00000557004.1 + 2 571 c.150G>A c.(148-150)aaG>aaA p.K50K SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.K50K|SERPINA4_ENST00000555095.1_Silent_p.K50K P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 50 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCAGCCTCAAGATAGCCCCTG 0.562000 26 85 0 0 0.005443 0 0 DIAPH2 1730 broad.mit.edu 37 X 96213115 96213115 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:96213115G>A ENST00000324765.8 + 16 2250 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K DIAPH2_ENST00000373061.3_Missense_Mutation_p.E635K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E635K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E635K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E631K O60879 DIAP2_HUMAN diaphanous-related formin 2 635 FH2. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 GTATAAACCTGAAGTGTCCAT 0.398000 12 63 0 0 0.013537 0 0 MYO1H 283446 broad.mit.edu 37 12 109844618 109844618 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:109844618C>T ENST00000310903.5 + 9 1046 c.940C>T c.(940-942)Ctt>Ttt p.L314F MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Missense_Mutation_p.L314F B4DNW6 B4DNW6_HUMAN myosin IH 62 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CCCATCAGTCCTTCTGGAAGC 0.453000 21 74 0 0 0.003330 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 5 117 0 0 0.001168 0 0 SMARCC1 6599 broad.mit.edu 37 3 47702787 47702787 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:47702787G>C ENST00000254480.5 - 21 2436 c.2317C>G c.(2317-2319)Ctt>Gtt p.L773V SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 773 Glu-rich. chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) GACTCACCAAGCTTCTCTGGC 0.473000 32 61 0 0 0.006999 0 0 CHGA 1113 broad.mit.edu 37 14 93393957 93393957 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:93393957C>T ENST00000216492.5 + 4 530 c.250C>T c.(250-252)Ctc>Ttc p.L84F CHGA_ENST00000334654.4_Missense_Mutation_p.L84F|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 84 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AGACCTCGCTCTCCAAGGTAT 0.463000 38 132 0 0 0.006230 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279916 47279916 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:47279916G>A ENST00000271153.4 + 7 844 c.808G>A c.(808-810)Gat>Aat p.D270N CYP4B1_ENST00000371919.4_Missense_Mutation_p.D256N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D271N|CYP4B1_ENST00000452782.2_Missense_Mutation_p.D108N P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 270 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) AGCCCTGCAGGATGAGAAGGT 0.577000 5 27 0 0 0.001168 0 0 ZNF638 27332 broad.mit.edu 37 2 71650395 71650395 + Missense_Mutation SNP A A T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:71650395A>T ENST00000409544.1 + 22 4381 c.3751A>T c.(3751-3753)Att>Ttt p.I1251F ZNF638_ENST00000409407.1_Missense_Mutation_p.I191F|ZNF638_ENST00000264447.4_Missense_Mutation_p.I1251F|ZNF638_ENST00000355812.3_Intron NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1251 Glu-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 AGAAGATTTCATTTCTGGAAT 0.368000 12 37 0 0 0.013537 0 0 PBX4 80714 broad.mit.edu 37 19 19681003 19681003 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:19681003C>T ENST00000251203.8 - 4 833 c.547G>A c.(547-549)Ggc>Agc p.G183S NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 183 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 CTGAACTTGCCGTGAATGGCG 0.607000 11 49 0 0 0.010729 0 0 CCDC6 8030 broad.mit.edu 37 10 61566766 61566766 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:61566766C>T ENST00000263102.6 - 6 1149 c.918G>A c.(916-918)agG>agA p.R306R NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 306 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) TCTGCAGCTTCCTCTGGAGCC 0.478000 T RET NSCLC 6 19 0 0 0.001984 0 0 PSG8 440533 broad.mit.edu 37 19 43258475 43258475 + Missense_Mutation SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:43258475A>C ENST00000306511.4 - 5 1350 c.1253T>G c.(1252-1254)aTc>aGc p.I418S PSG8_ENST00000404209.4_Intron|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Intron NM_182707.2 NP_874366.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 418 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGATACTGGGATCCGCTTACC 0.488000 61 351 0 0 0.014410 0 0 XIRP2 129446 broad.mit.edu 37 2 168101989 168101989 + Missense_Mutation SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:168101989A>C ENST00000409195.1 + 9 4176 c.4087A>C c.(4087-4089)Aat>Cat p.N1363H XIRP2_ENST00000295237.9_Missense_Mutation_p.N1363H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1141H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1188 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGACTCTATTAATAAATCAGA 0.368000 6 19 0 0 0.004482 0 0 ITFG1 81533 broad.mit.edu 37 16 47294474 47294474 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:47294474G>A ENST00000320640.6 - 11 1431 c.1203C>T c.(1201-1203)ttC>ttT p.F401F ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Silent_p.F288F NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 401 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AAATGTCAAAGAAGGTGGCAA 0.423000 13 51 0 0 0.004990 0 0 WARS2 10352 broad.mit.edu 37 1 119619093 119619093 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:119619093G>A ENST00000369426.5 - 2 231 c.228C>T c.(226-228)ctC>ctT p.L76L WARS2_ENST00000537870.1_5'UTR|WARS2_ENST00000235521.4_Silent_p.L76L Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 76 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) TAATGGAGTGGAGGTCAACAA 0.502000 16 76 0 0 0.004007 0 0 IGHG3 3502 broad.mit.edu 37 14 106235796 106235796 + RNA SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:106235796G>C ENST00000390551.2 - 0 910 CGATGTCGCTGGGGTAGAAGC 0.622000 55 185 0 0 0.014410 0 0 VSIG1 340547 broad.mit.edu 37 X 107301308 107301308 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:107301308C>T ENST00000415430.3 + 2 251 c.90C>T c.(88-90)ttC>ttT p.F30F VSIG1_ENST00000217957.5_Silent_p.F30F NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 30 Ig-like V-type 1. integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 CAGACGGTTTCGTGAACGTGA 0.428000 4 52 0 0 0.009096 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502321 140502321 + Silent SNP G G T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140502321G>T ENST00000194152.1 + 1 741 c.741G>T c.(739-741)ggG>ggT p.G247G NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 247 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCATATGGGGTGCAGGTCC 0.488000 25 84 1.55469e-16 2.05892e-16 0.003330 1 0 CACNA1B 774 broad.mit.edu 37 9 140946639 140946639 + Splice_Site SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:140946639A>C ENST00000277549.5 + 26 3963 c.1395_splice c.e26+1 p.K465_splice CACNA1B_ENST00000371372.1_Splice_Site_p.K1269_splice|CACNA1B_ENST00000371355.4_Splice_Site_p.K1270_splice|CACNA1B_ENST00000371357.1_Splice_Site_p.K1270_splice|CACNA1B_ENST00000277551.2_Splice_Site_p.K1269_splice|CACNA1B_ENST00000371363.1_Splice_Site_p.K1269_splice Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1269 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCCAAGCTCAAGGTTAGAGCC 0.532000 5 11 0 0 0.001168 0 0 AC005609.1 0 broad.mit.edu 37 5 140242780 140242780 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140242780C>T ENST00000502505.1 - 1 444 c.196G>A c.(196-198)Gac>Aac p.D66N PCDHA14_ENST00000562220.1_RNA|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron GTGGTGGCGTCGCTGGCGGAG 0.672000 6 18 0 0 0.001168 0 0 PLCB4 5332 broad.mit.edu 37 20 9440420 9440420 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:9440420G>A ENST00000378501.2 + 31 3190 c.3175G>A c.(3175-3177)Gag>Aag p.E1059K PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1071K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E1059K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E1059K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1071K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E1059K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1059 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAATGCCCACGAGCAGCAAAC 0.468000 5 27 0 0 0.000602 0 0 CD163L1 283316 broad.mit.edu 37 12 7527496 7527496 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:7527496G>A ENST00000313599.3 - 12 3082 c.3025C>T c.(3025-3027)Cca>Tca p.P1009S CD163L1_ENST00000396630.1_Missense_Mutation_p.P1009S|CD163L1_ENST00000416109.2_Missense_Mutation_p.P1019S Q9NR16 C163B_HUMAN CD163 molecule-like 1 1009 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 GCGAGGCATGGAAACAGTGGC 0.458000 15 50 0 0 0.004990 0 0 ANK1 286 broad.mit.edu 37 8 41525854 41525854 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:41525854C>T ENST00000396942.1 - 39 5408 c.5325G>A c.(5323-5325)agG>agA p.R1775R ANK1_ENST00000289734.7_Silent_p.R1775R|ANK1_ENST00000352337.4_Silent_p.R1775R|ANK1_ENST00000265709.8_Silent_p.R1816R|ANK1_ENST00000347528.4_Silent_p.R1775R|ANK1_ENST00000379758.2_Silent_p.R1775R|ANK1_ENST00000396945.1_Silent_p.R1775R P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1775 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.R1816S(1)|p.R1775S(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCCTCCGGTCCCTGTCGGCCT 0.622000 15 57 0 0 0.002450 0 0 ZNF169 169841 broad.mit.edu 37 9 97062951 97062951 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:97062951G>A ENST00000395395.2 + 5 1201 c.1111G>A c.(1111-1113)Gag>Aag p.E371K ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 371 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) ACACACAGGGGAGAGGCCCTT 0.577000 7 34 0 0 0.003080 0 0 ZNF395 55893 broad.mit.edu 37 8 28206337 28206337 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:28206337C>T ENST00000344423.5 - 10 1572 c.1441G>A c.(1441-1443)Ggg>Agg p.G481R ZNF395_ENST00000523202.1_Missense_Mutation_p.G481R|ZNF395_ENST00000523095.1_Missense_Mutation_p.G481R NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 481 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.G481W(1) cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TTAGCCTCCCCTCGGGCTTTC 0.627000 16 45 0 0 0.007413 0 0 PBRM1 55193 broad.mit.edu 37 3 52610700 52610700 + Nonsense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:52610700C>T ENST00000356770.4 - 21 3454 c.3452G>A c.(3451-3453)tGg>tAg p.W1151* PBRM1_ENST00000337303.4_Nonsense_Mutation_p.W1183*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.W1183*|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.W1198*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.W1183*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.W1158*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.W1198*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.W1158* Q86U86 PB1_HUMAN polybromo 1 1183 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATCTCGAACCCATACTTTTTC 0.328000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 15 18 0 0 0.004007 0 0 CSAD 51380 broad.mit.edu 37 12 53563896 53563896 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:53563896G>A ENST00000267085.4 - 10 976 c.743C>T c.(742-744)cCc>cTc p.P248L CSAD_ENST00000379843.3_Missense_Mutation_p.P74L|CSAD_ENST00000453446.2_Missense_Mutation_p.P221L|CSAD_ENST00000444623.1_Missense_Mutation_p.P221L|CSAD_ENST00000379846.1_Missense_Mutation_p.P74L NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 221 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CAGATCCTCGGGGACCATTTT 0.527000 15 58 0 0 0.006122 0 0 T 6862 broad.mit.edu 37 6 166580255 166580255 + Missense_Mutation SNP T T C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:166580255T>C ENST00000296946.2 - 3 764 c.296A>G c.(295-297)aAc>aGc p.N99S T_ENST00000366871.3_Missense_Mutation_p.N99S NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 99 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CCAGCGGTGGTTGTCCGCCGC 0.637000 Chordoma, Familial Clustering of 26 40 0 0 0.004656 0 0 MAP7D3 79649 broad.mit.edu 37 X 135328301 135328301 + Missense_Mutation SNP T T G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:135328301T>G ENST00000316077.9 - 3 396 c.176A>C c.(175-177)gAt>gCt p.D59A MAP7D3_ENST00000370661.1_Missense_Mutation_p.D59A|MAP7D3_ENST00000370663.5_Missense_Mutation_p.D41A NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 59 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CATGGATCCATCGATTACTAA 0.299000 15 64 0 0 0.003163 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714307 70714307 + RNA SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:70714307G>C ENST00000530196.1 - 0 211 NR_003951.1 GCCAGAAATAGACAAAAATAC 0.527000 19 77 0 0 0.012319 0 0 TTC3 7267 broad.mit.edu 37 21 38555196 38555196 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:38555196G>C ENST00000399017.2 + 36 7485 c.4738G>C c.(4738-4740)Gtt>Ctt p.V1580L TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.V1580L|TTC3_ENST00000354749.2_Missense_Mutation_p.V1580L NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1580 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AATTAAAAAGGTTTCAAATGC 0.259000 8 19 0 0 0.006214 0 0 IQUB 154865 broad.mit.edu 37 7 123092876 123092876 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:123092876C>T ENST00000466202.1 - 13 2873 c.2297G>A c.(2296-2298)gGt>gAt p.G766D IQUB_ENST00000324698.6_Missense_Mutation_p.G766D Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 766 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 ATCAATTTCACCATCATCAAG 0.383000 14 15 0 0 0.002450 0 0 OPRD1 4985 broad.mit.edu 37 1 29189427 29189427 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:29189427G>A ENST00000234961.2 + 3 993 c.751G>A c.(751-753)Gag>Aag p.E251K NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 251 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) GGGCTCCAAGGAGAAGGACCG 0.637000 5 32 0 0 0.000602 0 0 MAST4 375449 broad.mit.edu 37 5 66461218 66461218 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:66461218G>A ENST00000404260.3 + 29 6528 c.6220G>A c.(6220-6222)Gag>Aag p.E2074K MAST4_ENST00000261569.7_Missense_Mutation_p.E1877K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1882K|MAST4_ENST00000405643.1_Missense_Mutation_p.E1892K|MAST4_ENST00000403625.2_Missense_Mutation_p.E2071K O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2074 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CTGTGAGAAGGAGCTGGGCAA 0.602000 13 43 0 0 0.013537 0 0 GPR123 84435 broad.mit.edu 37 10 134886590 134886590 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:134886590C>T ENST00000607359.1 + 3 624 c.624C>T c.(622-624)ctC>ctT p.L208L Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 246 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CTGCCATGCTCGTCTGTGAGG 0.672000 3 8 0 0 0.009096 0 0 SLC6A11 6538 broad.mit.edu 37 3 10960102 10960102 + Missense_Mutation SNP G G A rs141411603 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:10960102G>A ENST00000254488.2 + 8 1150 c.1084G>A c.(1084-1086)Gag>Aag p.E362K NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 362 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.E362K(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TATGGCGTACGAGCAGGGGGT 0.577000 10 25 0 0 0.006214 0 0 GGA3 23163 broad.mit.edu 37 17 73237075 73237075 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:73237075C>G ENST00000245541.6 - 11 1226 c.1010G>C c.(1009-1011)aGt>aCt p.S337T GGA3_ENST00000351904.7_Missense_Mutation_p.S304T|GGA3_ENST00000538886.1_Missense_Mutation_p.S215T|GGA3_ENST00000582717.1_Missense_Mutation_p.S265T|GGA3_ENST00000582486.1_Missense_Mutation_p.S265T|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000578348.1_Missense_Mutation_p.S215T NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 337 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GGAGGACAAACTGTTGGTCGT 0.592000 OREG0024730 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 35 0 0 0.008740 0 0 LY9 4063 broad.mit.edu 37 1 160786462 160786462 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:160786462C>T ENST00000263285.5 + 5 1181 c.1151C>T c.(1150-1152)tCc>tTc p.S384F LY9_ENST00000341032.4_Intron|LY9_ENST00000368035.1_Missense_Mutation_p.S36F|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.S36F NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 384 Ig-like C2-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTGACCTGCTCCGTGGAGGAC 0.572000 3 12 0 0 0.009096 0 0 PCDH9 5101 broad.mit.edu 37 13 67799670 67799670 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:67799670G>A ENST00000544246.1 - 2 3594 c.2903C>T c.(2902-2904)cCt>cTt p.P968L PCDH9_ENST00000456367.1_Missense_Mutation_p.P968L|PCDH9_ENST00000377861.3_Missense_Mutation_p.P968L|PCDH9_ENST00000328454.5_Missense_Mutation_p.P968L|PCDH9_ENST00000377865.2_Missense_Mutation_p.P968L NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 968 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GTTGTCCAAAGGGAGTTCCTG 0.498000 27 58 0 0 0.009535 0 0 PI16 221476 broad.mit.edu 37 6 36929689 36929689 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:36929689C>T ENST00000373674.3 + 4 859 c.531C>T c.(529-531)taC>taT p.Y177Y NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 177 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AACGGCCCTACCAGGAGGGGA 0.637000 12 74 0 0 0.010729 0 0 OR2J2 26707 broad.mit.edu 37 6 29141485 29141485 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:29141485G>A ENST00000377167.2 + 1 175 c.73G>A c.(73-75)Gaa>Aaa p.E25K NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 GCCTCAGCTGGAAGTAGTTCT 0.378000 28 112 0 0 0.006320 0 0 COL6A3 1293 broad.mit.edu 37 2 238285927 238285927 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:238285927G>A ENST00000295550.4 - 7 3010 c.2558C>T c.(2557-2559)cCt>cTt p.P853L COL6A3_ENST00000392003.2_Missense_Mutation_p.P446L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P653L|COL6A3_ENST00000347401.3_Missense_Mutation_p.P652L|COL6A3_ENST00000392004.3_Missense_Mutation_p.P647L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P246L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P647L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P647L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 853 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACGGACAACAGGGAACTGGCC 0.502000 22 55 0 0 0.014323 0 0 GLB1 2720 broad.mit.edu 37 3 33058329 33058329 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:33058329G>A ENST00000307363.5 - 14 1495 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S GLB1_ENST00000445488.2_Missense_Mutation_p.P499S|GLB1_ENST00000307377.8_Missense_Mutation_p.P320S|GLB1_ENST00000399402.3_Missense_Mutation_p.P421S|GLB1_ENST00000497796.1_5'UTR NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 451 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) ACTCCCTGGGGGATCTGTGGG 0.478000 25 38 0 0 0.002780 0 0 SELP 6403 broad.mit.edu 37 1 169578921 169578921 + Missense_Mutation SNP G G A rs3917742 byFrequency TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:169578921G>A ENST00000263686.6 - 8 1191 c.1154C>T c.(1153-1155)tCg>tTg p.S385L SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.S323L|SELP_ENST00000367786.2_Missense_Mutation_p.S323L|SELP_ENST00000367793.2_Missense_Mutation_p.S323L|SELP_ENST00000367792.2_Missense_Mutation_p.S323L|SELP_ENST00000367794.2_Missense_Mutation_p.S323L|SELP_ENST00000458599.2_Missense_Mutation_p.S323L NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 385 Sushi 4. S -> L (in dbSNP:rs3917742). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CGGCTCACACGAAATAGCTAA 0.478000 6 15 0 0 0.001168 0 0 JDP2 122953 broad.mit.edu 37 14 75928163 75928163 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:75928163G>A ENST00000435893.2 + 3 509 c.236G>A c.(235-237)cGg>cAg p.R79Q JDP2_ENST00000437176.1_Missense_Mutation_p.R79Q|JDP2_ENST00000267569.5_Missense_Mutation_p.R90Q|JDP2_ENST00000419727.2_Missense_Mutation_p.R79Q NM_001135047.1|NM_130469.3 NP_001128519.1|NP_569736.1 Q8WYK2 JDP2_HUMAN Jun dimerization protein 2 79 nucleus sequence-specific DNA binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(234;0.0296) AAAAGGCGCCGGGAGAAGAAC 0.587000 10 15 0 0 0.001855 0 0 COL4A5 1287 broad.mit.edu 37 X 107815042 107815042 + Splice_Site SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:107815042G>A ENST00000328300.6 + 8 684 c.438_splice c.e8-1 p.G147_splice COL4A5_ENST00000361603.2_Splice_Site_p.G147_splice NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 147 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TAATAATAGGGACCCCCTGGG 0.348000 Alport syndrome with Diffuse Leiomyomatosis 9 44 0 0 0.006214 0 0 ZNF878 729747 broad.mit.edu 37 19 12155500 12155500 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:12155500G>A ENST00000602107.1 - 5 856 c.857C>T c.(856-858)cCc>cTc p.P286L CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.P239L|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TAACGAACTGGGAGAAAAAAA 0.378000 20 64 0 0 0.008871 0 0 SAGE1 55511 broad.mit.edu 37 X 134987465 134987465 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:134987465G>A ENST00000535938.1 + 5 535 c.368G>A c.(367-369)cGa>cAa p.R123Q SAGE1_ENST00000370709.3_Missense_Mutation_p.R123Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.R123Q|SAGE1_ENST00000537770.1_Missense_Mutation_p.R123Q NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 123 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GGCCAATCTCGAACTGACAAA 0.468000 10 65 0 0 0.008291 0 0 TSPAN12 23554 broad.mit.edu 37 7 120480103 120480103 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:120480103G>C ENST00000222747.3 - 3 734 c.127C>G c.(127-129)Ctc>Gtc p.L43V TSPAN12_ENST00000415871.1_Missense_Mutation_p.L43V NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 43 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) GTTAAAGTGAGAACATTATTT 0.358000 11 44 0 0 0.008291 0 0 ADAM21 8747 broad.mit.edu 37 14 70925765 70925765 + Missense_Mutation SNP A A T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:70925765A>T ENST00000603540.1 + 2 1807 c.1549A>T c.(1549-1551)Att>Ttt p.I517F ADAM21_ENST00000267499.3_Missense_Mutation_p.I517F|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 517 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TTGCAGGGAGATTTTTGGTAA 0.418000 6 48 0 0 0.006214 0 0 GABRA2 2555 broad.mit.edu 37 4 46314589 46314589 + Missense_Mutation SNP A A T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:46314589A>T ENST00000510861.1 - 5 573 c.400T>A c.(400-402)Tca>Aca p.S134T GABRA2_ENST00000515082.1_Missense_Mutation_p.S134T|GABRA2_ENST00000381620.4_Missense_Mutation_p.S134T|GABRA2_ENST00000514090.1_Missense_Mutation_p.S134T|GABRA2_ENST00000356504.1_Missense_Mutation_p.S134T|GABRA2_ENST00000540012.1_Missense_Mutation_p.S79T|GABRA2_ENST00000507069.1_Missense_Mutation_p.S134T P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 134 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGAGCTACTGATTTTTTCCCA 0.348000 10 76 0 0 0.013537 0 0 ILDR2 387597 broad.mit.edu 37 1 166926004 166926004 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:166926004C>T ENST00000271417.3 - 3 520 c.465G>A c.(463-465)ggG>ggA p.G155G ILDR2_ENST00000529071.1_Silent_p.G155G|ILDR2_ENST00000469934.2_Silent_p.G155G|ILDR2_ENST00000529387.1_Silent_p.G155G|ILDR2_ENST00000526687.1_Silent_p.G155G|ILDR2_ENST00000525740.1_Silent_p.G155G|ILDR2_ENST00000528703.1_Silent_p.G155G NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 155 Ig-like V-type. integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 CCTCATTTTTCCCCTCCAGGT 0.438000 19 42 0 0 0.012319 0 0 GPX6 257202 broad.mit.edu 37 6 28483487 28483487 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:28483487G>A ENST00000361902.1 - 1 83 c.34C>T c.(34-36)Ctg>Ttg p.L12L GPX6_ENST00000483058.1_Intron|GPX6_ENST00000474923.1_Silent_p.L12L NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 12 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) AGGAAAAACAGGACAAGACAG 0.552000 7 35 0 0 0.003080 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679718 160679718 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:160679718G>A ENST00000366952.1 - 3 1490 c.9C>T c.(7-9)ttC>ttT p.F3F SLC22A2_ENST00000366953.3_Silent_p.F24F|SLC22A2_ENST00000491092.1_5'UTR O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 24 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GAGCCAAGAGGAAAAACATTT 0.622000 6 53 0 0 0.001168 0 0 TLE4 7091 broad.mit.edu 37 9 82333688 82333688 + Silent SNP T T C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:82333688T>C ENST00000376520.4 + 16 2316 c.1488T>C c.(1486-1488)ttT>ttC p.F496F TLE4_ENST00000376534.4_Silent_p.F101F|TLE4_ENST00000376537.4_Silent_p.F496F|TLE4_ENST00000376544.3_Silent_p.F395F|TLE4_ENST00000376552.2_Silent_p.F464F|TLE4_ENST00000265284.6_Silent_p.F439F O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CTGTCCCTTTTCCACCCGACG 0.547000 19 71 0 0 0.010504 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762229 23762229 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:23762229C>T ENST00000397312.2 - 2 278 c.4G>A c.(4-6)Gaa>Aaa p.E2K ELAVL2_ENST00000544538.1_Missense_Mutation_p.E2K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.E2K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.E2K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.E31K NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 2 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AGTTGTGTTTCCATGGCAGCA 0.398000 36 84 0 0 0.003755 0 0 NCOR2 9612 broad.mit.edu 37 12 124832746 124832746 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:124832746C>T ENST00000356219.3 - 30 4135 c.3980G>A c.(3979-3981)aGa>aAa p.R1327K NCOR2_ENST00000404121.2_Missense_Mutation_p.R881K|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1320K|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1310K|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1310K|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1311K NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1328 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGAGATGGCTCTGCCCACGCG 0.647000 OREG0022238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 63 0 0 0.013537 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740509 50740509 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:50740509G>A ENST00000008391.3 + 8 1519 c.1291G>A c.(1291-1293)Gag>Aag p.E431K NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 431 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TGCCAACTCGGAGAAAGCTCC 0.478000 4 18 0 0 0.001984 0 0 N4BP2L1 90634 broad.mit.edu 37 13 32981800 32981800 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:32981800C>G ENST00000380130.2 - 2 384 c.289G>C c.(289-291)Gaa>Caa p.E97Q N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000530622.2_5'UTR|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.E97Q|N4BP2L1_ENST00000380133.2_Missense_Mutation_p.E97Q NM_052818.2 NP_438169.2 Q5TBK1 N42L1_HUMAN NEDD4 binding protein 2-like 1 97 cell killing ATP binding large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 Lung SC(185;0.0262) all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171) TGGTTCCATTCATGAGCTTCC 0.443000 26 48 0 0 0.004656 0 0 SNCAIP 9627 broad.mit.edu 37 5 121739511 121739511 + Missense_Mutation SNP G G A rs149915358 byFrequency TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:121739511G>A ENST00000379538.3 + 3 287 c.35G>A c.(34-36)cGa>cAa p.R12Q SNCAIP_ENST00000379533.2_Silent_p.T74T|SNCAIP_ENST00000261367.7_Silent_p.T74T|SNCAIP_ENST00000503116.2_Silent_p.T74T|SNCAIP_ENST00000504884.2_Silent_p.T27T|SNCAIP_ENST00000379536.2_Silent_p.T27T|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R18Q|SNCAIP_ENST00000261368.8_Silent_p.T27T NM_001242935.1 NP_001229864.1 Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 0 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CACTCAAGACGATCCCAGAAC 0.453000 31 92 0 0 0.010818 0 0 FSD2 123722 broad.mit.edu 37 15 83440852 83440852 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:83440852C>T ENST00000334574.8 - 7 1421 c.1240G>A c.(1240-1242)Gac>Aac p.D414N FSD2_ENST00000541889.1_Missense_Mutation_p.D414N A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 414 Fibronectin type-III 1. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 GGTGAGCTGTCCTGCACTGGC 0.612000 5 17 0 0 0.001168 0 0 TNFRSF8 943 broad.mit.edu 37 1 12186103 12186103 + Missense_Mutation SNP C C T rs140319459 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:12186103C>T ENST00000263932.2 + 11 1471 c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R306W NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 417 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GAAGCGAATTCGGCAGAGTAA 0.632000 41 96 0 0 0.008740 0 0 FAM163B 642968 broad.mit.edu 37 9 136444264 136444264 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:136444264G>C ENST00000496132.1 - 3 625 c.381C>G c.(379-381)agC>agG p.S127R FAM163B_ENST00000356873.3_Missense_Mutation_p.S127R P0C2L3 F163B_HUMAN family with sequence similarity 163, member B 127 integral to membrane large_intestine(1) 1 CGTCCTCCTGGCTCACGCTCT 0.711000 5 17 0 0 0.000602 0 0 CHAMP1 283489 broad.mit.edu 37 13 115090797 115090797 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:115090797C>T ENST00000361283.1 + 3 1789 c.1480C>T c.(1480-1482)Cct>Tct p.P494S NM_001164144.1|NM_001164145.1|NM_032436.2 NP_001157616.1|NP_001157617.1|NP_115812.1 Q96JM3 ZN828_HUMAN chromosome alignment maintaining phosphoprotein 1 494 Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ACCTGTCTTCCCTGAGACCCG 0.493000 69 154 0 0 0.014410 0 0 BTN2A1 11120 broad.mit.edu 37 6 26468710 26468710 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:26468710C>G ENST00000312541.5 + 8 1765 c.1517C>G c.(1516-1518)gCc>gGc p.A506G BTN2A1_ENST00000541522.1_Missense_Mutation_p.A445G|BTN2A1_ENST00000469185.1_Intron|BTN2A1_ENST00000429381.1_3'UTR NM_007049.3|NM_078476.2 NP_008980.1|NP_510961.1 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 506 B30.2/SPRY. lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 CTCACAGGAGCCAATGGGGTC 0.562000 7 117 0 0 0.003080 0 0 CLCNKA 1187 broad.mit.edu 37 1 16352685 16352685 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:16352685G>A ENST00000375692.1 + 6 569 c.441G>A c.(439-441)aaG>aaA p.K147K CLCNKA_ENST00000420078.1_Silent_p.K147K|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.K104K|CLCNKA_ENST00000331433.4_Silent_p.K147K P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 147 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TTGGGGCCAAGGTGGTGGGCC 0.612000 66 183 0 0 0.014410 0 0 OR13C4 138804 broad.mit.edu 37 9 107288807 107288807 + Silent SNP C C T rs141274906 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:107288807C>T ENST00000277216.3 - 1 683 c.684G>A c.(682-684)acG>acA p.T228T NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TGGCCGAGTTCGTTCGCAAGA 0.408000 27 88 0 0 0.005443 0 0 CD163L1 283316 broad.mit.edu 37 12 7521534 7521534 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:7521534G>A ENST00000313599.3 - 16 4124 c.4067C>T c.(4066-4068)tCc>tTc p.S1356F CD163L1_ENST00000396630.1_Missense_Mutation_p.S1356F|CD163L1_ENST00000416109.2_Missense_Mutation_p.S1366F Q9NR16 C163B_HUMAN CD163 molecule-like 1 1356 extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.S1356F(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TATACCTGAGGAGGCATTCAG 0.443000 14 61 0 0 0.001855 0 0 PAGE2 203569 broad.mit.edu 37 X 55116530 55116530 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:55116530C>T ENST00000374968.4 + 2 181 c.77C>T c.(76-78)tCt>tTt p.S26F PAGE2_ENST00000374965.1_Missense_Mutation_p.S26F NM_207339.2 NP_997222.1 P antigen family, member 2 (prostate associated) endometrium(1)|large_intestine(2)|lung(1)|ovary(2) 6 CCGGTTGGATCTGTGATTGTG 0.353000 5 35 0 0 0.001168 0 0 C4orf21 55345 broad.mit.edu 37 4 113540102 113540102 + Missense_Mutation SNP G G T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:113540102G>T ENST00000505019.1 - 6 1221 c.1096C>A c.(1096-1098)Ctt>Att p.L366I C4orf21_ENST00000445203.2_Missense_Mutation_p.L335I|C4orf21_ENST00000309071.5_Missense_Mutation_p.L366I NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 366 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TGTAATGAAAGGTCTTTCAAA 0.368000 6 64 8.12818e-05 0.000107065 0.001984 1 0 NUP62CL 54830 broad.mit.edu 37 X 106396512 106396512 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:106396512G>A ENST00000372466.4 - 7 671 c.420C>T c.(418-420)atC>atT p.I140I NUP62CL_ENST00000372461.3_3'UTR NM_017681.2 NP_060151.2 Q9H1M0 N62CL_HUMAN nucleoporin 62kDa C-terminal like 140 protein transport nuclear pore structural constituent of nuclear pore lung(4) 4 GCTGTGACAGGATAAAATCCA 0.373000 15 96 0 0 0.004007 0 0 EPHA4 2043 broad.mit.edu 37 2 222347308 222347308 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:222347308G>A ENST00000281821.2 - 5 1123 c.1082C>T c.(1081-1083)tCc>tTc p.S361F EPHA4_ENST00000409854.1_Missense_Mutation_p.S361F|EPHA4_ENST00000392071.4_Missense_Mutation_p.S310F|EPHA4_ENST00000409938.1_Missense_Mutation_p.S361F NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 361 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity p.S361F(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CACATTATAGGAAATGTCCTG 0.517000 33 145 0 0 0.003755 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114015 117114015 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:117114015C>T ENST00000310357.3 - 6 2092 c.2071G>A c.(2071-2073)Gat>Aat p.D691N GPRC6A_ENST00000368549.3_Missense_Mutation_p.D620N|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D516N NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 691 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AATTTGGGATCAAAGCTGAAG 0.418000 7 33 0 0 0.004482 0 0 CECR2 27443 broad.mit.edu 37 22 17976561 17976561 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:17976561C>T ENST00000262608.8 + 2 225 c.225C>T c.(223-225)atC>atT p.I75I CECR2_ENST00000400573.4_Silent_p.I94I|CECR2_ENST00000342247.5_Silent_p.I74I|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000497534.1_3'UTR NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 116 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GGGTGGAGATCCTGCACCGAC 0.542000 43 65 0 0 0.014410 0 0 STON1 11037 broad.mit.edu 37 2 48808304 48808304 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:48808304G>A ENST00000309835.3 + 1 542 c.532G>A c.(532-534)Gag>Aag p.E178K STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E178K|STON1_ENST00000406226.1_Missense_Mutation_p.E178K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E178K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E178K|STON1_ENST00000404752.1_Missense_Mutation_p.E178K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E178K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E178K stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTATTTTCGAGAGGACTGTGC 0.433000 6 40 0 0 0.001984 0 0 MARCH6 10299 broad.mit.edu 37 5 10390517 10390517 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:10390517G>C ENST00000274140.5 + 6 613 c.481G>C c.(481-483)Gtg>Ctg p.V161L MARCH6_ENST00000449913.2_Missense_Mutation_p.V113L|MARCH6_ENST00000503788.1_Missense_Mutation_p.V56L NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 161 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 CATCAGCCTGGTGTGGTTGAG 0.458000 17 49 0 0 0.006122 0 0 YLPM1 56252 broad.mit.edu 37 14 75283808 75283808 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:75283808G>C ENST00000325680.7 + 14 5984 c.5860G>C c.(5860-5862)Gag>Cag p.E1954Q YLPM1_ENST00000552421.1_Missense_Mutation_p.E1248Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.E1719Q NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1759 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CAAGGGATTTGAGGTAGAAGC 0.358000 6 21 0 0 0.001168 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864327 102864327 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:102864327G>C ENST00000372628.1 + 3 693 c.335G>C c.(334-336)aGa>aCa p.R112T TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.R112T|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R112T Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 16 AAAGCAAAAAGAAAAACGGAC 0.582000 16 97 0 0 0.006122 0 0 KDM5C 8242 broad.mit.edu 37 X 53223567 53223567 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:53223567G>A ENST00000452825.3 - 21 4123 c.3591C>T c.(3589-3591)gcC>gcT p.A1197A KDM5C_ENST00000375379.3_Silent_p.A1264A|KDM5C_ENST00000375401.3_Silent_p.A1264A|KDM5C_ENST00000404049.3_Silent_p.A1263A|KDM5C_ENST00000375383.3_Silent_p.A1223A NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1264 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GTCTCTGCAGGGCTACCAGCA 0.667000 """N, F, S""" clear cell renal carcinoma 9 12 0 0 0.008291 0 0 HERC3 8916 broad.mit.edu 37 4 89588561 89588561 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:89588561C>T ENST00000402738.1 + 13 1604 c.1365C>T c.(1363-1365)atC>atT p.I455I HERC3_ENST00000543130.1_5'UTR|HERC3_ENST00000264345.3_Silent_p.I455I NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 455 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GTCCCAAAATCCCTGGGATTG 0.313000 13 26 0 0 0.004007 0 0 SRCAP 10847 broad.mit.edu 37 16 30749824 30749824 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:30749824C>T ENST00000262518.4 + 34 8848 c.8463C>T c.(8461-8463)ccC>ccT p.P2821P SRCAP_ENST00000395059.2_Silent_p.P2759P|SRCAP_ENST00000344771.4_Silent_p.P2663P NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2821 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCACTCCACCCCAGCAGCCCT 0.642000 25 53 0 0 0.004656 0 0 COL6A2 1292 broad.mit.edu 37 21 47545524 47545524 + Silent SNP C C T rs150253422 byFrequency TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:47545524C>T ENST00000300527.4 + 25 2066 c.1962C>T c.(1960-1962)tcC>tcT p.S654S COL6A2_ENST00000310645.5_Silent_p.S654S|COL6A2_ENST00000409416.1_Silent_p.S654S|COL6A2_ENST00000357838.4_Silent_p.S654S|COL6A2_ENST00000397763.1_Silent_p.S654S NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 654 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCCCAAGTCCGAGACAGGTC 0.632000 4 23 0 0 0.009096 0 0 CDH9 1007 broad.mit.edu 37 5 26915882 26915882 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:26915882G>A ENST00000231021.4 - 3 551 c.379C>T c.(379-381)Cgt>Tgt p.R127C NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 127 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GCCTTGGCACGAAGAATGTAC 0.393000 35 73 0 0 0.004878 0 0 TET1 80312 broad.mit.edu 37 10 70451265 70451265 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:70451265C>T ENST00000373644.4 + 12 6314 c.6105C>T c.(6103-6105)caC>caT p.H2035H NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 2035 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CTGTTGAGCACCCCAACCGTA 0.502000 23 42 0 0 0.014323 0 0 MID2 11043 broad.mit.edu 37 X 107170226 107170226 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:107170226G>A ENST00000262843.6 + 10 2679 c.2131G>A c.(2131-2133)Gat>Aat p.D711N RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.D681N NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 711 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AGATTTTATTGATTACCCTGA 0.418000 9 56 0 0 0.004482 0 0 OBSCN 84033 broad.mit.edu 37 1 228462473 228462473 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:228462473C>G ENST00000570156.2 + 24 7083 c.7009C>G c.(7009-7011)Ctg>Gtg p.L2337V OBSCN_ENST00000359599.6_Missense_Mutation_p.L809V|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000422127.1_Missense_Mutation_p.L1962V|OBSCN_ENST00000284548.11_Missense_Mutation_p.L1962V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1322 Ig-like 23. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGACCTGGTGCTGGAGGACGC 0.647000 4 10 0 0 0.000602 0 0 SLC4A8 9498 broad.mit.edu 37 12 51883720 51883720 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:51883720G>A ENST00000453097.2 + 19 2902 c.2685G>A c.(2683-2685)atG>atA p.M895I SLC4A8_ENST00000358657.3_Missense_Mutation_p.M922I NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 895 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) CAGTCTTCATGACGGCTATCT 0.493000 10 72 0 0 0.006214 0 0 PLEKHA8P1 51054 broad.mit.edu 37 12 45568302 45568302 + RNA SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:45568302G>A ENST00000256692.5 - 0 383 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTTCCCCGGGGATTATCAGGT 0.498000 9 46 0 0 0.006214 0 0 LOC440040 440040 broad.mit.edu 37 11 49831711 49831711 + RNA SNP A A G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:49831711A>G ENST00000527477.1 + 0 1936 GTTGATGTTAATCAAAGCTCC 0.448000 4 146 0 0 0.001168 0 0 SF3B3 23450 broad.mit.edu 37 16 70601421 70601421 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:70601421C>T ENST00000302516.5 + 21 3145 c.2934C>T c.(2932-2934)ctC>ctT p.L978L NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 978 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding p.L978L(1) breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) AGAAGTTACTCCGAAAATGTG 0.517000 15 51 0 0 0.004007 0 0 MYF5 4617 broad.mit.edu 37 12 81110911 81110911 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:81110911C>T ENST00000228644.3 + 1 221 c.69C>T c.(67-69)tcC>tcT p.S23S NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 23 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GCATACCGTCCCCCGAGGGTG 0.617000 8 34 0 0 0.006214 0 0 DENND4B 9909 broad.mit.edu 37 1 153909095 153909095 + Missense_Mutation SNP A A G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:153909095A>G ENST00000361217.4 - 16 2780 c.2362T>C c.(2362-2364)Tcc>Ccc p.S788P NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 788 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGCACTCGGGAGGGTGCCGAC 0.627000 4 36 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179455759 179455759 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:179455759C>T ENST00000589042.1 - 304 60917 c.60693G>A c.(60691-60693)ctG>ctA p.L20231L TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L18590L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.L17663L|TTN_ENST00000359218.5_Silent_p.L11291L|TTN_ENST00000460472.2_Silent_p.L11166L|TTN_ENST00000342175.6_Silent_p.L11358L|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18590 Ig-like 111. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGGGATTTTCAGCTTTGTCT 0.443000 52 141 0 0 0.014410 0 0 PI16 221476 broad.mit.edu 37 6 36929690 36929690 + Nonsense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:36929690C>T ENST00000373674.3 + 4 860 c.532C>T c.(532-534)Cag>Tag p.Q178* NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 178 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACGGCCCTACCAGGAGGGGAC 0.637000 12 72 0 0 0.010729 0 0 CNTN6 27255 broad.mit.edu 37 3 1418728 1418728 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:1418728G>A ENST00000446702.2 + 17 2762 c.2135G>A c.(2134-2136)gGa>gAa p.G712E CNTN6_ENST00000539053.1_Missense_Mutation_p.G640E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G712E Q9UQ52 CNTN6_HUMAN contactin 6 712 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GGAGGTGGAGGAAGTCGGTCT 0.403000 31 60 0 0 0.004289 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890082 23890082 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:23890082G>A ENST00000532292.1 - 1 1093 c.999C>T c.(997-999)caC>caT p.H333H NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GGGTGTTTGGGTGCTCCCAGT 0.627000 5 64 0 0 0.004482 0 0 FAM171B 165215 broad.mit.edu 37 2 187626379 187626379 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:187626379C>T ENST00000304698.5 + 8 1513 c.1310C>T c.(1309-1311)cCt>cTt p.P437L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 437 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TCATATAGTCCTCAGAAAAAG 0.348000 23 58 0 0 0.002780 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 46 0 0 0.000602 0 0 WDR88 126248 broad.mit.edu 37 19 33623254 33623254 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:33623254C>T ENST00000361680.2 + 1 257 c.179C>T c.(178-180)cCc>cTc p.P60L WDR88_ENST00000592765.1_Missense_Mutation_p.P60L|WDR88_ENST00000355868.3_Missense_Mutation_p.P60L Q6ZMY6 WDR88_HUMAN WD repeat domain 88 60 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) ACCCTCGACCCCCTGGCCTTG 0.637000 24 150 0 0 0.003954 0 0 MYO18B 84700 broad.mit.edu 37 22 26164456 26164456 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:26164456G>A ENST00000335473.7 + 4 823 c.573G>A c.(571-573)aaG>aaA p.K191K MYO18B_ENST00000536101.1_Silent_p.K191K|MYO18B_ENST00000407587.2_Silent_p.K191K NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 191 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GAAAGGAAAAGAAAGGGGAGA 0.617000 3 19 0 0 0.000602 0 0 KLHL24 54800 broad.mit.edu 37 3 183368286 183368286 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:183368286C>T ENST00000454652.1 + 4 528 c.142C>T c.(142-144)Cat>Tat p.H48Y KLHL24_ENST00000476808.1_Missense_Mutation_p.H48Y|KLHL24_ENST00000242810.6_Missense_Mutation_p.H48Y Q6TFL4 KLH24_HUMAN kelch-like family member 24 48 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AGGATCATCCCATGCCGAAAA 0.408000 29 50 0 0 0.003271 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011584 46011584 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:46011584C>T ENST00000400368.1 - 1 802 c.782G>A c.(781-783)tGc>tAc p.C261Y TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 261 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGAGGAGGTGCAGCAAGCTGG 0.647000 39 131 0 0 0.009718 0 0 VWC2 375567 broad.mit.edu 37 7 49842382 49842382 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:49842382G>A ENST00000340652.3 + 3 1328 c.772G>A c.(772-774)Gag>Aag p.E258K NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 258 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 TCCCCAGACGGAGTGTGTGGA 0.567000 30 35 0 0 0.007291 0 0 GPR112 139378 broad.mit.edu 37 X 135445670 135445670 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:135445670G>A ENST00000394143.1 + 13 7603 c.7312G>A c.(7312-7314)Gaa>Aaa p.E2438K GPR112_ENST00000370652.1_Missense_Mutation_p.E2438K|GPR112_ENST00000287534.4_Missense_Mutation_p.E2236K|GPR112_ENST00000394141.1_Missense_Mutation_p.E2233K|GPR112_ENST00000412101.1_Missense_Mutation_p.E2233K NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2438 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCTCAGTGGGAAAAGCCAAA 0.373000 19 44 0 0 0.010504 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 29 0 0 0.003954 0 0 DBH 1621 broad.mit.edu 37 9 136516843 136516843 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:136516843G>A ENST00000393056.2 + 7 1291 c.1279G>A c.(1279-1281)Gac>Aac p.D427N NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 427 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCTGGTCCGGGACGGCCGGGA 0.652000 14 17 0 0 0.001855 0 0 OR6C4 341418 broad.mit.edu 37 12 55945365 55945365 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:55945365G>A ENST00000394256.2 + 1 383 c.355G>A c.(355-357)Gat>Aat p.D119N RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D119H(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 CATGTCTTATGATCGTTATGT 0.443000 31 88 0 0 0.010818 0 0 CHST7 56548 broad.mit.edu 37 X 46433815 46433815 + Missense_Mutation SNP A A T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:46433815A>T ENST00000276055.3 + 1 597 c.449A>T c.(448-450)cAg>cTg p.Q150L NM_019886.2 NP_063939.2 Q9NS84 CHST7_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 150 chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3)|endometrium(2)|kidney(1)|lung(2) 8 GAGAGCTTGCAGGGCGCGCTG 0.672000 26 55 0 0 0.008361 0 0 NWD1 284434 broad.mit.edu 37 19 16899852 16899852 + Missense_Mutation SNP G G A rs140602425 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:16899852G>A ENST00000524140.2 + 13 3209 c.2791G>A c.(2791-2793)Gat>Aat p.D931N NWD1_ENST00000339803.6_Missense_Mutation_p.D796N|NWD1_ENST00000549814.1_Missense_Mutation_p.D931N|NWD1_ENST00000379808.3_Missense_Mutation_p.D931N|NWD1_ENST00000552788.1_Missense_Mutation_p.D931N|NWD1_ENST00000523826.1_Missense_Mutation_p.D725N NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 931 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGCTTCAAAGGATTACACGCT 0.498000 18 70 0 0 0.007413 0 0 BMP3 651 broad.mit.edu 37 4 81974564 81974564 + Silent SNP G G A rs146470758 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:81974564G>A ENST00000282701.2 + 3 1613 c.1293G>A c.(1291-1293)ggG>ggA p.G431G NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 431 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 TCGTTCCTGGGATTCCTGAGC 0.388000 31 91 0 0 0.013726 0 0 TMED4 222068 broad.mit.edu 37 7 44620740 44620740 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:44620740C>G ENST00000457408.2 - 4 538 c.486G>C c.(484-486)caG>caC p.Q162H TMED4_ENST00000289577.5_Intron|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Missense_Mutation_p.Q162H NM_182547.2 NP_872353.2 Q7Z7H5 TMED4_HUMAN transmembrane emp24 protein transport domain containing 4 162 positive regulation of I-kappaB kinase/NF-kappaB cascade|transport endoplasmic reticulum membrane|integral to membrane signal transducer activity breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GATCAAGCAACTGGCGGGCGC 0.517000 9 39 0 0 0.013537 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110504188 110504188 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:110504188G>A ENST00000378402.5 + 62 10305 c.10201G>A c.(10201-10203)Gat>Aat p.D3401N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3401 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAACAGAAAAGATTTAAGTTC 0.338000 HNSCC(38;0.096) 4 8 0 0 0.009096 0 0 RGS7 6000 broad.mit.edu 37 1 241031915 241031915 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:241031915C>T ENST00000366565.1 - 9 962 c.581G>A c.(580-582)aGa>aAa p.R194K RGS7_ENST00000366564.1_Missense_Mutation_p.R194K|RGS7_ENST00000366562.4_Missense_Mutation_p.R194K|RGS7_ENST00000407727.1_Missense_Mutation_p.R194K|RGS7_ENST00000331110.7_Missense_Mutation_p.R168K|RGS7_ENST00000366563.1_Missense_Mutation_p.R194K|RGS7_ENST00000401882.1_Missense_Mutation_p.R141K|RGS7_ENST00000446183.2_Missense_Mutation_p.R110K|RGS7_ENST00000348120.2_Missense_Mutation_p.R141K NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 194 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CCAGAACGCTCTCTCTTGGCT 0.483000 11 54 0 0 0.010729 0 0 MYF6 4618 broad.mit.edu 37 12 81101508 81101508 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:81101508G>A ENST00000228641.3 + 1 232 c.10G>A c.(10-12)Gac>Aac p.D4N NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 4 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 CATGATGATGGACCTTTTTGA 0.468000 15 80 0 0 0.004007 0 0 TM6SF2 53345 broad.mit.edu 37 19 19381082 19381082 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:19381082C>T ENST00000389363.4 - 4 373 c.301G>A c.(301-303)Gag>Aag p.E101K AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'UTR NM_001001524.2 NP_001001524.2 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 101 integral to membrane breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Epithelial(12;0.0151) AGGTATGGCTCTCCCTGTGGG 0.622000 15 46 0 0 0.004990 0 0 KCND1 3750 broad.mit.edu 37 X 48823417 48823417 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:48823417G>A ENST00000218176.3 - 2 2515 c.1218C>T c.(1216-1218)gtC>gtT p.V406V KCND1_ENST00000376477.1_Silent_p.V29V NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 406 V -> I (in Ref. 2; BAA96454). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 TGGACACAATGACTGGCACAG 0.577000 21 30 0 0 0.010504 0 0 GATM 2628 broad.mit.edu 37 15 45660395 45660395 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:45660395G>A ENST00000396659.3 - 4 887 c.548C>T c.(547-549)cCc>cTc p.P183L GATM_ENST00000558336.1_Missense_Mutation_p.P183L NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 183 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CCATGCCATGGGAGCCTCGAT 0.483000 8 37 0 0 0.003080 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116000 129116000 + RNA SNP A A G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:129116000A>G ENST00000514355.1 - 0 412 lung(1) 1 GGGAAGAAGTAGCCCCAGGTG 0.542000 4 150 0 0 0.003080 0 0 CYP4B1 1580 broad.mit.edu 37 1 47278210 47278210 + Missense_Mutation SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:47278210A>C ENST00000271153.4 + 4 446 c.410A>C c.(409-411)cAc>cCc p.H137P CYP4B1_ENST00000371919.4_Missense_Mutation_p.H122P|CYP4B1_ENST00000371923.4_Missense_Mutation_p.H137P|CYP4B1_ENST00000452782.2_5'UTR P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 137 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) TGGTTGCAGCACCGCAAGCTG 0.602000 8 37 0 0 0.003080 0 0 NDUFS3 4722 broad.mit.edu 37 11 47602407 47602407 + Missense_Mutation SNP A A T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:47602407A>T ENST00000534716.2 + 4 270 c.252A>T c.(250-252)ttA>ttT p.L84F NDUFS3_ENST00000528192.1_Missense_Mutation_p.L84F|NDUFS3_ENST00000263774.4_Missense_Mutation_p.L84F|NDUFS3_ENST00000534208.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 84 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) TCAATGAGTTAGAGGTCTGTA 0.498000 35 116 0 0 0.006230 0 0 TRAV6 6956 broad.mit.edu 37 14 22237049 22237049 + RNA SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:22237049G>A ENST00000390428.3 + 0 133 AGAGCCAAAAGATAGAACAGA 0.478000 11 22 0 0 0.010729 0 0 TADA2A 6871 broad.mit.edu 37 17 35825629 35825629 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:35825629C>T ENST00000394395.2 + 11 980 c.807C>T c.(805-807)ttC>ttT p.F269F TADA2A_ENST00000417170.1_Silent_p.F269F|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Silent_p.F269F|TADA2A_ENST00000225396.6_Silent_p.F269F NM_001166105.1 NP_001159577.1 O75478 TAD2A_HUMAN transcriptional adaptor 2A 269 histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1) 13 ATGACAAATTCATTGAAAGCC 0.413000 18 49 0 0 0.008871 0 0 ENC1 8507 broad.mit.edu 37 5 73931057 73931057 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:73931057G>A ENST00000302351.4 - 2 2384 c.1254C>T c.(1252-1254)gaC>gaT p.D418D ENC1_ENST00000537006.1_Silent_p.D418D|ENC1_ENST00000510316.1_Silent_p.D345D NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 418 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) TGATTGTGGGGTCATAATGTT 0.547000 39 88 0 0 0.010771 0 0 TAL2 6887 broad.mit.edu 37 9 108424991 108424991 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:108424991G>A ENST00000334077.3 + 1 254 c.214G>A c.(214-216)Ggg>Agg p.G72R NM_005421.2 NP_005412.1 Q16559 TAL2_HUMAN T-cell acute lymphocytic leukemia 2 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GGCTGCTCAGGGGAACATTCT 0.547000 T TRB@ T-ALL 18 36 0 0 0.010504 0 0 EEF1A2 1917 broad.mit.edu 37 20 62126161 62126161 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:62126161G>A ENST00000217182.3 - 4 783 c.618C>T c.(616-618)ccC>ccT p.P206P EEF1A2_ENST00000298049.7_Silent_p.P206P NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 206 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CACTCACGTTGGGGGAGGGCT 0.692000 4 29 0 0 0.000602 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94670745 94670745 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:94670745G>A ENST00000260526.6 - 7 751 c.569C>T c.(568-570)tCc>tTc p.S190F ARHGAP29_ENST00000370217.3_Missense_Mutation_p.S190F NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 190 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTCTAAAGGGGAAAAATTTCC 0.338000 4 15 0 0 0.009096 0 0 ASPG 374569 broad.mit.edu 37 14 104571026 104571026 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:104571026C>T ENST00000551177.1 + 9 1096 c.1004C>T c.(1003-1005)tCg>tTg p.S335L ASPG_ENST00000455920.2_Missense_Mutation_p.S335L|ASPG_ENST00000546892.2_Missense_Mutation_p.S335L NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 335 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity p.S363L(1)|p.S335L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 GCCAAGCTATCGTATGTGCTG 0.662000 9 25 0 0 0.006214 0 0 ALS2 57679 broad.mit.edu 37 2 202571691 202571691 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:202571691G>A ENST00000264276.6 - 29 4830 c.4458C>T c.(4456-4458)taC>taT p.Y1486Y ALS2_ENST00000457679.2_3'UTR NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 1486 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 ACAGCGGTGGGTAGAGCCGAG 0.413000 12 30 0 0 0.001855 0 0 PHOX2B 8929 broad.mit.edu 37 4 41750496 41750496 + Nonsense_Mutation SNP A A T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:41750496A>T ENST00000226382.2 - 1 491 c.132T>A c.(130-132)taT>taA p.Y44* RP11-227F19.1_ENST00000508038.1_RNA NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 44 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 TTATCGGGTTATACTGGAAGC 0.622000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 5 126 0 0 0.001168 0 0 SASS6 163786 broad.mit.edu 37 1 100550937 100550937 + Missense_Mutation SNP C C T rs148677150 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:100550937C>T ENST00000287482.5 - 17 2061 c.1921G>A c.(1921-1923)Gcg>Acg p.A641T SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.A474T NM_194292.1 NP_919268.1 Q6UVJ0 SAS6_HUMAN spindle assembly 6 homolog (C. elegans) 641 centriole replication centriole breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 19 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) GAGGGGAGCGCTGTGGGTTTG 0.403000 47 106 0 0 0.014410 0 0 NPHS1 4868 broad.mit.edu 37 19 36321786 36321786 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:36321786G>A ENST00000378910.5 - 28 3553 c.3554C>T c.(3553-3555)cCg>cTg p.P1185L NPHS1_ENST00000353632.6_Missense_Mutation_p.P1145L NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 1185 Binds to NPHS2. cell adhesion|excretion|muscle organ development integral to plasma membrane p.S1186fs*10(1) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCTCCAGACGGGGGGTACGT 0.542000 29 152 0 0 0.010818 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518327 41518327 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:41518327C>T ENST00000324071.4 + 7 1096 c.1089C>T c.(1087-1089)ctC>ctT p.L363L CYP2B6_ENST00000330446.5_Silent_p.L163L|CYP2B6_ENST00000593831.1_Silent_p.L127L NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 363 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CCGACCTTCTCCCCATGGGTG 0.547000 14 66 0 0 0.002450 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:41962602G>C ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 5 57 0 0 0.000602 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392580 22392580 + RNA SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:22392580G>A ENST00000390440.2 + 0 178 GTTCGTGCAGGAAAAGGAGGC 0.428000 14 38 0 0 0.001855 0 0 TRIM55 84675 broad.mit.edu 37 8 67066388 67066388 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:67066388G>A ENST00000315962.4 + 9 1716 c.1343G>A c.(1342-1344)gGc>gAc p.G448D TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.G448D NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 448 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TGGTATAAAGGCCAAACCCGG 0.552000 16 44 0 0 0.004007 0 0 TMEM156 80008 broad.mit.edu 37 4 38995373 38995373 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:38995373C>T ENST00000381938.3 - 3 711 c.604G>A c.(604-606)Gag>Aag p.E202K NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 202 integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 ATATCCATCTCTAGGTGCAAA 0.333000 12 38 0 0 0.010729 0 0 DBH 1621 broad.mit.edu 37 9 136516842 136516842 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:136516842G>A ENST00000393056.2 + 7 1290 c.1278G>A c.(1276-1278)cgG>cgA p.R426R NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 426 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) TGCTGGTCCGGGACGGCCGGG 0.652000 14 17 0 0 0.001855 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 4 112 0 0 0.009096 0 0 MAPK4 5596 broad.mit.edu 37 18 48248339 48248339 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr18:48248339C>T ENST00000400384.2 + 4 1759 c.723C>T c.(721-723)atC>atT p.I241I MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Silent_p.I30I NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 241 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TGCAACTCATCCTGGAGACCA 0.582000 6 11 0 0 0.001168 0 0 PCDHA2 56146 broad.mit.edu 37 5 140174681 140174681 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140174681C>T ENST00000526136.1 + 1 132 c.132C>T c.(130-132)ttC>ttT p.F44F PCDHA2_ENST00000520672.2_Silent_p.F44F|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.F44F NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCACCTTCGTGGGCCGCA 0.687000 19 65 0 0 0.008871 0 0 SCRIB 23513 broad.mit.edu 37 8 144890932 144890932 + Silent SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:144890932A>C ENST00000356994.2 - 15 1968 c.1962T>G c.(1960-1962)gcT>gcG p.A654A SCRIB_ENST00000377533.3_Silent_p.A573A|SCRIB_ENST00000320476.3_Silent_p.A654A NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 654 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGGCCCGAGGAGCCCAGGGTG 0.667000 17 39 0 0 0.004007 0 0 SPO11 23626 broad.mit.edu 37 20 55913332 55913332 + Splice_Site SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:55913332G>A ENST00000371263.3 + 9 854 c.744_splice c.e9-1 p.G249_splice SPO11_ENST00000371260.4_Splice_Site_p.G207_splice|SPO11_ENST00000345868.4_Splice_Site_p.G211_splice NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 249 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) TTCCTTTTAGGGAAAGGGAGT 0.338000 Editing and processing nucleases 13 21 0 0 0.001855 0 0 VASH2 79805 broad.mit.edu 37 1 213146088 213146088 + Missense_Mutation SNP T T G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:213146088T>G ENST00000366968.4 + 7 819 c.469T>G c.(469-471)Ttt>Gtt p.F157V VASH2_ENST00000366964.3_Missense_Mutation_p.F80V|VASH2_ENST00000517399.1_Missense_Mutation_p.F222V|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Missense_Mutation_p.F178V|VASH2_ENST00000366967.2_Missense_Mutation_p.F118V|VASH2_ENST00000366966.2_Missense_Mutation_p.F157V NM_001136474.1 NP_001129946.1 Q86V25 VASH2_HUMAN vasohibin 2 222 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) GCCATTGACTTTTCGGACTCT 0.498000 10 30 0 0 0.008291 0 0 SFTPB 6439 broad.mit.edu 37 2 85892783 85892783 + Silent SNP G G A rs147209702 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:85892783G>A ENST00000342375.3 - 6 663 c.528C>T c.(526-528)ctC>ctT p.L176L SFTPB_ENST00000409383.1_Silent_p.L188L|SFTPB_ENST00000393822.3_Silent_p.L188L|SFTPB_ENST00000519937.2_Silent_p.L176L NM_000542.3|NM_198843.2 NP_000533.3|NP_942140.2 P07988 PSPB_HUMAN surfactant protein B 176 L -> F (in dbSNP:rs3024801). organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 CAGGGAGGACGAGCTTGTCCA 0.667000 13 49 0 0 0.001855 0 0 SLC22A10 387775 broad.mit.edu 37 11 63064897 63064897 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:63064897C>T ENST00000544661.1 + 4 592 c.164C>T c.(163-165)tCc>tTc p.S55F SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.S210F Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 210 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGTTTTTCTTCCATGATCATT 0.398000 30 46 0 0 0.009535 0 0 COL11A2 1302 broad.mit.edu 37 6 33136775 33136775 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:33136775C>G ENST00000341947.2 - 52 4036 c.3809G>C c.(3808-3810)gGt>gCt p.G1270A COL11A2_ENST00000361917.1_Missense_Mutation_p.G1163A|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1189A|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1249A|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1184A|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1244A|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1223A|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1210A NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1270 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACCAGGAAAACCAACAGGACC 0.602000 13 60 0 0 0.002450 0 0 NDNF 79625 broad.mit.edu 37 4 121957792 121957792 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:121957792G>A ENST00000379692.4 - 4 1860 c.1334C>T c.(1333-1335)cCc>cTc p.P445L NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 445 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 AGGAAGAGAGGGAAATGACTG 0.448000 15 112 0 0 0.006122 0 0 ANAPC1 64682 broad.mit.edu 37 2 112605420 112605420 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:112605420G>A ENST00000341068.3 - 15 2445 c.1673C>T c.(1672-1674)cCa>cTa p.P558L NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 558 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 CCTCAGTTCTGGAACTGGGGA 0.343000 22 43 0 0 0.002780 0 0 SLC24A4 123041 broad.mit.edu 37 14 92909750 92909750 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:92909750C>T ENST00000532405.1 + 7 815 c.589C>T c.(589-591)Cgt>Tgt p.R197C SLC24A4_ENST00000351924.5_Missense_Mutation_p.R180C|SLC24A4_ENST00000531433.1_Missense_Mutation_p.R197C|SLC24A4_ENST00000298877.1_Missense_Mutation_p.R180C|SLC24A4_ENST00000393265.2_Missense_Mutation_p.R133C Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 197 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) GCAGGTGGTCCGTCTGACGTG 0.657000 9 50 0 0 0.008291 0 0 DSCAM 1826 broad.mit.edu 37 21 41719724 41719724 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:41719724C>T ENST00000400454.1 - 6 1560 c.1083G>A c.(1081-1083)agG>agA p.R361R NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 361 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCCCTGTGATCCTCACATTTT 0.512000 33 242 0 0 0.004289 0 0 MYO1H 283446 broad.mit.edu 37 12 109844617 109844617 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:109844617C>T ENST00000310903.5 + 9 1045 c.939C>T c.(937-939)gtC>gtT p.V313V MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Silent_p.V313V B4DNW6 B4DNW6_HUMAN myosin IH 61 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 ACCCATCAGTCCTTCTGGAAG 0.453000 22 76 0 0 0.003954 0 0 AIM1 202 broad.mit.edu 37 6 107008779 107008779 + Missense_Mutation SNP G G A rs144319815 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:107008779G>A ENST00000369066.3 + 17 5220 c.4733G>A c.(4732-4734)gGt>gAt p.G1578D AIM1_ENST00000535438.1_Missense_Mutation_p.G397D NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1578 Beta/gamma crystallin 'Greek key' 12. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CGCCAAATAGGTTCTCTACGA 0.398000 31 85 0 0 0.004289 0 0 MYH11 4629 broad.mit.edu 37 16 15851732 15851732 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:15851732G>C ENST00000338282.6 - 13 1633 c.1527C>G c.(1525-1527)atC>atG p.I509M MYH11_ENST00000300036.5_Missense_Mutation_p.I509M|MYH11_ENST00000576790.1_Missense_Mutation_p.I509M|MYH11_ENST00000396324.3_Missense_Mutation_p.I516M|MYH11_ENST00000452625.2_Missense_Mutation_p.I516M NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 509 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCCCAAAGTCGATGAAGTTCC 0.597000 T CBFB AML 15 52 0 0 0.003163 0 0 GAD2 2572 broad.mit.edu 37 10 26589769 26589769 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:26589769G>A ENST00000376261.3 + 16 2140 c.1637G>A c.(1636-1638)aGc>aAc p.S546N GAD2_ENST00000259271.3_Missense_Mutation_p.S546N NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 546 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ACAATGGTCAGCTACCAACCC 0.483000 33 50 0 0 0.004289 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204403714 204403714 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:204403714G>A ENST00000367187.3 - 25 4095 c.3539C>T c.(3538-3540)tCc>tTc p.S1180F PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1152F|RP11-739N20.2_ENST00000443515.1_RNA NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1180 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCCAGCGCAGGAGTAGATAAA 0.547000 5 23 0 0 0.001984 0 0 USP54 159195 broad.mit.edu 37 10 75286500 75286500 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:75286500G>A ENST00000339859.4 - 15 2199 c.2099C>T c.(2098-2100)tCc>tTc p.S700F USP54_ENST00000408019.1_Missense_Mutation_p.S700F|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.S550F|USP54_ENST00000497106.1_5'UTR Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 700 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ATGACGCCAGGAAGGAACCAA 0.493000 14 34 0 0 0.002450 0 0 CRY2 1408 broad.mit.edu 37 11 45891260 45891260 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:45891260C>T ENST00000443527.2 + 7 1171 c.1149C>T c.(1147-1149)atC>atT p.I383I CRY2_ENST00000417225.2_Silent_p.I301I NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 362 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 TTGATGCCATCATGACCCAAC 0.652000 20 88 0 0 0.012319 0 0 TAPBP 6892 broad.mit.edu 37 6 33272288 33272288 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:33272288G>A ENST00000434618.2 - 5 1341 c.996C>T c.(994-996)ctC>ctT p.L332L TAPBP_ENST00000489157.1_Silent_p.L245L|TAPBP_ENST00000456592.2_Silent_p.L332L|TAPBP_ENST00000426633.2_Silent_p.L332L|TAPBP_ENST00000475304.1_Silent_p.L350L NM_003190.4|NM_172209.2 NP_003181.3|NP_757346.2 O15533 TPSN_HUMAN TAP binding protein (tapasin) 332 Ig-like C1-type. antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding endometrium(2)|large_intestine(5)|lung(8)|ovary(3) 18 GGCCACCCCGGAGTTCCCACT 0.687000 13 36 0 0 0.002450 0 0 ZNF407 55628 broad.mit.edu 37 18 72344446 72344446 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr18:72344446G>A ENST00000299687.5 + 1 1471 c.1471G>A c.(1471-1473)Gtg>Atg p.V491M ZNF407_ENST00000309902.6_Missense_Mutation_p.V491M|ZNF407_ENST00000582337.1_Missense_Mutation_p.V491M|ZNF407_ENST00000577538.1_Missense_Mutation_p.V491M NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAGAGTGTGTGTGACTACCTC 0.552000 12 57 0 0 0.013537 0 0 ATG9A 79065 broad.mit.edu 37 2 220087022 220087022 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:220087022G>A ENST00000409618.1 - 12 2438 c.1999C>T c.(1999-2001)Cgg>Tgg p.R667W ATG9A_ENST00000409422.1_Missense_Mutation_p.R606W|ATG9A_ENST00000361242.4_Missense_Mutation_p.R667W|ATG9A_ENST00000396761.2_Missense_Mutation_p.R667W Q7Z3C6 ATG9A_HUMAN autophagy related 9A 667 autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGTGAGCCCGGCCTGTGGGC 0.657000 28 106 0 0 0.009535 0 0 CLDN16 10686 broad.mit.edu 37 3 190122712 190122712 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr3:190122712G>C ENST00000264734.2 + 3 837 c.589G>C c.(589-591)Gca>Cca p.A197P CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 197 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GTTACTAATAGCAGGTACCGG 0.517000 9 39 0 0 0.006214 0 0 PRX 57716 broad.mit.edu 37 19 40901365 40901365 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:40901365G>A ENST00000324001.7 - 7 3164 c.2894C>T c.(2893-2895)tCa>tTa p.S965L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 965 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTTGGGGAGTGAGATGGCAAA 0.622000 66 90 0 0 0.014410 0 0 MKI67 4288 broad.mit.edu 37 10 129903852 129903852 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:129903852C>G ENST00000368654.3 - 13 6627 c.6252G>C c.(6250-6252)caG>caC p.Q2084H MKI67_ENST00000368653.3_Missense_Mutation_p.Q1724H NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2084 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGTCTGGTGTCTGGAAGAGCT 0.488000 66 156 0 0 0.014410 0 0 RADIL 55698 broad.mit.edu 37 7 4874770 4874770 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:4874770G>C ENST00000399583.3 - 4 1071 c.884C>G c.(883-885)cCt>cGt p.P295R RADIL_ENST00000538469.1_Missense_Mutation_p.P55R|RADIL_ENST00000536091.1_Missense_Mutation_p.P295R NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 295 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GCAGTGTAGAGGCAGGATGTC 0.701000 3 13 0 0 0.004672 0 0 PCDH9 5101 broad.mit.edu 37 13 67799671 67799671 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr13:67799671G>A ENST00000544246.1 - 2 3593 c.2902C>T c.(2902-2904)Cct>Tct p.P968S PCDH9_ENST00000456367.1_Missense_Mutation_p.P968S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P968S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P968S|PCDH9_ENST00000377865.2_Missense_Mutation_p.P968S NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 968 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTGTCCAAAGGGAGTTCCTGA 0.498000 26 57 0 0 0.008361 0 0 TM2D3 80213 broad.mit.edu 37 15 102192496 102192496 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr15:102192496C>G ENST00000333202.3 - 1 74 c.69G>C c.(67-69)caG>caC p.Q23H TM2D3_ENST00000428002.2_Missense_Mutation_p.Q23H|TM2D3_ENST00000559107.1_Missense_Mutation_p.Q23H|TM2D3_ENST00000347970.3_Missense_Mutation_p.Q23H NM_078474.2 NP_510883.2 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 23 integral to membrane central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GAATGCAGAACTGCGAGAGGA 0.721000 8 36 0 0 0.004482 0 0 BTBD16 118663 broad.mit.edu 37 10 124034599 124034599 + Translation_Start_Site SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:124034599G>A ENST00000368994.2 + 2 254 c.3G>A c.(1-3)atG>atA p.M1I BTBD16_ENST00000260723.4_Start_Codon_SNP_p.M1I Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 1 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TTTCATTCATGATAATGTCGA 0.378000 14 49 0 0 0.006122 0 0 OR52J3 119679 broad.mit.edu 37 11 5068287 5068287 + Missense_Mutation SNP C C A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:5068287C>A ENST00000380370.1 + 1 532 c.532C>A c.(532-534)Cat>Aat p.H178N NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CATAATAGCCCATTCCTACTG 0.418000 25 70 3.6726e-16 4.85061e-16 0.003954 1 0 ZNF462 58499 broad.mit.edu 37 9 109688887 109688887 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:109688887C>T ENST00000277225.5 + 3 2983 c.2694C>T c.(2692-2694)ttC>ttT p.F898F ZNF462_ENST00000457913.1_Silent_p.F898F Q96JM2 ZN462_HUMAN zinc finger protein 462 898 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 ACACCAACTTCGAAGATCTCC 0.468000 24 59 0 0 0.002780 0 0 SLC35B4 84912 broad.mit.edu 37 7 133981163 133981163 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:133981163G>A ENST00000378509.4 - 9 1028 c.729C>T c.(727-729)ctC>ctT p.L243L NM_032826.4 NP_116215.1 Q969S0 S35B4_HUMAN solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 243 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 TGTTCATGAGGAGGTAGAACC 0.438000 18 16 0 0 0.010504 0 0 MXRA5 25878 broad.mit.edu 37 X 3240439 3240439 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:3240439G>A ENST00000217939.6 - 5 3441 c.3287C>T c.(3286-3288)cCt>cTt p.P1096L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1096 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGTGGAGTCAGGCAAAGTGAT 0.493000 9 79 0 0 0.008291 0 0 SYNE1 23345 broad.mit.edu 37 6 152652612 152652612 + Missense_Mutation SNP G G A rs139490297 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:152652612G>A ENST00000367255.5 - 78 13809 c.13208C>T c.(13207-13209)tCg>tTg p.S4403L SYNE1_ENST00000448038.1_Missense_Mutation_p.S4332L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4268L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4403L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4332L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4403 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.S4403L(2) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTATAAGCGATTTCAGGAG 0.522000 HNSCC(10;0.0054) 15 31 0 0 0.002450 0 0 SARDH 1757 broad.mit.edu 37 9 136594959 136594959 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:136594959C>T ENST00000371872.4 - 6 1100 c.843G>A c.(841-843)atG>atA p.M281I SARDH_ENST00000439388.1_Missense_Mutation_p.M281I|SARDH_ENST00000422262.2_Missense_Mutation_p.M113I|SARDH_ENST00000371867.1_Missense_Mutation_p.M192I|SARDH_ENST00000298628.5_Missense_Mutation_p.M281I NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 281 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TGACTCCAGCCATCCGGCCCA 0.637000 9 54 0 0 0.004482 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805780 20805780 + RNA SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:20805780C>T ENST00000577537.1 + 0 964 RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA TGCTGGCTTTCGTCTCTGATT 0.537000 6 20 0 0 0.001168 0 0 COL6A2 1292 broad.mit.edu 37 21 47552187 47552187 + Silent SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:47552187C>G ENST00000300527.4 + 28 2885 c.2781C>G c.(2779-2781)gcC>gcG p.A927A NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 927 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCATCAATGCCATCGTGCGCA 0.662000 4 14 0 0 0.001984 0 0 STAU2 27067 broad.mit.edu 37 8 74650519 74650519 + Splice_Site SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:74650519C>G ENST00000355780.5 - 3 236 c.18_splice c.e3+1 p.Q6_splice STAU2_ENST00000522695.1_Splice_Site_p.Q6_splice|STAU2_ENST00000524300.1_5'UTR|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000521419.1_5'UTR|STAU2_ENST00000519961.1_5'UTR|STAU2_ENST00000524104.1_Splice_Site_p.Q6_splice|STAU2_ENST00000522509.1_Splice_Site_p.Q6_splice|STAU2_ENST00000523558.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000521210.1_5'UTR NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 38 transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) ACAAACTCACCTGATTTATTT 0.348000 8 30 0 0 0.003080 0 0 CAMKK2 10645 broad.mit.edu 37 12 121711955 121711955 + Silent SNP G G A rs146945076 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:121711955G>A ENST00000324774.5 - 2 1203 c.375C>T c.(373-375)tcC>tcT p.S125S CAMKK2_ENST00000347034.2_Silent_p.S125S|CAMKK2_ENST00000412367.2_Silent_p.S125S|CAMKK2_ENST00000402834.4_Silent_p.S125S|CAMKK2_ENST00000337174.3_Silent_p.S125S|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000538733.1_Silent_p.S125S|CAMKK2_ENST00000392473.2_Silent_p.S125S|CAMKK2_ENST00000446440.2_Silent_p.S125S|CAMKK2_ENST00000404169.3_Silent_p.S125S|CAMKK2_ENST00000392474.2_Silent_p.S125S NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 125 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGTAGGGCAGGGACGGGCAGA 0.687000 64 180 0 0 0.014410 0 0 APOL1 8542 broad.mit.edu 37 22 36661727 36661727 + Missense_Mutation SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:36661727A>C ENST00000319136.4 + 7 1160 c.893A>C c.(892-894)gAc>gCc p.D298A APOL1_ENST00000397278.3_Missense_Mutation_p.D282A|APOL1_ENST00000422706.1_Missense_Mutation_p.D282A|APOL1_ENST00000397279.4_Missense_Mutation_p.D282A|APOL1_ENST00000426053.1_Missense_Mutation_p.D264A|APOL1_ENST00000347595.7_Missense_Mutation_p.D161A NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 282 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 ATTGGGAAGGACATCCGTGCC 0.527000 18 85 0 0 0.007413 0 0 RARA 5914 broad.mit.edu 37 17 38508593 38508593 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:38508593C>T ENST00000254066.5 + 6 1096 c.641C>T c.(640-642)tCa>tTa p.S214L RARA_ENST00000425707.3_Missense_Mutation_p.S117L|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394081.3_Missense_Mutation_p.S209L|RARA_ENST00000394089.2_Missense_Mutation_p.S214L|RARA_ENST00000394086.3_Missense_Mutation_p.S230L NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 214 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) AACAACAGCTCAGAACAACGT 0.582000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 30 58 0 0 0.008361 0 0 GPR113 165082 broad.mit.edu 37 2 26533824 26533824 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:26533824C>T ENST00000333478.6 - 8 2757 c.2175G>A c.(2173-2175)ggG>ggA p.G725G GPR113_ENST00000421160.2_Silent_p.G855G|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.G527G|GPR113_ENST00000311519.1_Silent_p.G924G NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 924 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTATAACGCCCCTCCCTTCC 0.597000 8 20 0 0 0.006214 0 0 PCSK2 5126 broad.mit.edu 37 20 17434472 17434472 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:17434472C>T ENST00000262545.2 + 9 1286 c.971C>T c.(970-972)tCc>tTc p.S324F PCSK2_ENST00000377899.1_Missense_Mutation_p.S305F|PCSK2_ENST00000536609.1_Missense_Mutation_p.S289F NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 324 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGCTACGCCTCCAGCATGTGG 0.637000 22 46 0 0 0.012319 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51647745 51647745 + Nonsense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:51647745G>A ENST00000317643.6 + 2 585 c.516G>A c.(514-516)tgG>tgA p.W172* SIGLEC7_ENST00000305628.7_Intron|SIGLEC7_ENST00000600577.1_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 172 Ig-like C2-type 1. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CTGTGCCCTGGGCCTGTGAGC 0.637000 43 108 0 0 0.014410 0 0 KLF14 136259 broad.mit.edu 37 7 130418269 130418269 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:130418269G>A ENST00000310992.4 - 1 619 c.592C>T c.(592-594)Ccc>Tcc p.P198S NM_138693.2 NP_619638.1 Q8TD94 KLF14_HUMAN Kruppel-like factor 14 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(18;0.0435) CCCGGGAAGGGGCATTGGTGG 0.682000 194 272 0 0 0.014410 0 0 PZP 5858 broad.mit.edu 37 12 9316319 9316319 + Missense_Mutation SNP A A G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:9316319A>G ENST00000261336.2 - 21 2709 c.2681T>C c.(2680-2682)gTt>gCt p.V894A PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Intron NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AGGGACCTCAACAACCTCATT 0.408000 16 52 0 0 0.004007 0 0 FAM13B 51306 broad.mit.edu 37 5 137354780 137354780 + Silent SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:137354780A>C ENST00000033079.3 - 3 472 c.21T>G c.(19-21)ccT>ccG p.P7P FAM13B_ENST00000420893.2_Silent_p.P7P|FAM13B_ENST00000425075.2_Intron NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 7 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 TACTCAAGGAAGGGGAGGAGC 0.403000 17 43 0 0 0.007413 0 0 PLEC 5339 broad.mit.edu 37 8 144997325 144997325 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:144997325C>G ENST00000322810.4 - 31 7352 c.7183G>C c.(7183-7185)Gac>Cac p.D2395H PLEC_ENST00000357649.2_Missense_Mutation_p.D2262H|PLEC_ENST00000345136.3_Missense_Mutation_p.D2258H|PLEC_ENST00000436759.2_Missense_Mutation_p.D2285H|PLEC_ENST00000356346.3_Missense_Mutation_p.D2244H|PLEC_ENST00000354958.2_Missense_Mutation_p.D2236H|PLEC_ENST00000398774.2_Missense_Mutation_p.D2226H|PLEC_ENST00000354589.3_Missense_Mutation_p.D2258H|PLEC_ENST00000527096.1_Missense_Mutation_p.D2281H NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2395 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TTGTCCTTGTCACGCAAGATG 0.637000 7 33 0 0 0.001984 0 0 RERE 473 broad.mit.edu 37 1 8418476 8418476 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:8418476G>A ENST00000337907.3 - 21 4753 c.4119C>T c.(4117-4119)ccC>ccT p.P1373P RERE_ENST00000476556.1_Silent_p.P819P|RERE_ENST00000377464.1_Silent_p.P1105P|RERE_ENST00000400908.2_Silent_p.P1373P|RERE_ENST00000400907.2_Intron NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1373 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCCTCTCCAAGGGGTTCAGGC 0.692000 6 20 0 0 0.001168 0 0 SEC16B 89866 broad.mit.edu 37 1 177930028 177930028 + Silent SNP A A C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:177930028A>C ENST00000308284.6 - 7 923 c.834T>G c.(832-834)ccT>ccG p.P278P RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Silent_p.P278P|SEC16B_ENST00000464631.1_Silent_p.P279P NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 278 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CAGGAACATGAGGGATGTAGA 0.527000 10 34 0 0 0.008291 0 0 RALYL 138046 broad.mit.edu 37 8 85441712 85441712 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:85441712C>T ENST00000521268.1 + 2 1261 c.156C>T c.(154-156)tcC>tcT p.S52S RALYL_ENST00000517638.1_Silent_p.S65S|RALYL_ENST00000521695.1_Silent_p.S52S|RALYL_ENST00000518566.1_Silent_p.S52S|RALYL_ENST00000522455.1_Silent_p.S52S NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 52 RRM. identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 TTGGATGTTCCGTTCACAAAG 0.433000 12 30 0 0 0.001855 0 0 COL12A1 1303 broad.mit.edu 37 6 75814981 75814981 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:75814981G>A ENST00000322507.8 - 54 8515 c.8206C>T c.(8206-8208)Cca>Tca p.P2736S COL12A1_ENST00000416123.2_Missense_Mutation_p.P2660S|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2736S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1572S NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2736 Nonhelical region (NC3). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAAGAATTTGGAAAAGCAGGG 0.413000 6 22 0 0 0.001984 0 0 EFCAB7 84455 broad.mit.edu 37 1 63998342 63998342 + Splice_Site SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:63998342G>A ENST00000371088.4 + 4 647 c.399_splice c.e4-1 p.R134_splice NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 134 EF-hand 1. calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 TTTTTTCAGAGAGGTGAGAAG 0.338000 4 47 0 0 0.009096 0 0 FRMD7 90167 broad.mit.edu 37 X 131212601 131212601 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:131212601G>A ENST00000298542.4 - 12 1619 c.1444C>T c.(1444-1446)Cct>Tct p.P482S FRMD7_ENST00000370879.1_Missense_Mutation_p.P362S|FRMD7_ENST00000464296.1_Missense_Mutation_p.P467S NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 482 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CCTGTACAAGGAATATAGGGC 0.478000 49 121 0 0 0.014410 0 0 HSD17B10 3028 broad.mit.edu 37 X 53458992 53458992 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:53458992C>T ENST00000168216.6 - 4 457 c.430G>A c.(430-432)Gga>Aga p.G144R HSD17B10_ENST00000375298.4_Missense_Mutation_p.G144R|HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375304.5_Missense_Mutation_p.G144R NM_001037811.2|NM_004493.2 NP_001032900.1|NP_004484.1 Q99714 HCD2_HUMAN hydroxysteroid (17-beta) dehydrogenase 10 144 branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing mitochondrial matrix|plasma membrane 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1) 8 NADH(DB00157) CGTTGGCCTCCCTGGTCTGGT 0.547000 5 63 0 0 0.001984 0 0 MN1 4330 broad.mit.edu 37 22 28146960 28146960 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr22:28146960C>T ENST00000302326.4 - 2 4860 c.3906G>A c.(3904-3906)cgG>cgA p.R1302R MN1_ENST00000497225.1_5'UTR NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1302 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 AATGCAGGGACCGCCAGGTGG 0.597000 T ETV6 """AML, meningioma""" 27 66 0 0 0.007291 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431786 140431786 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140431786G>A ENST00000306549.3 + 1 808 c.731G>A c.(730-732)cGa>cAa p.R244Q NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 244 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGTTCTCGCGACTGGTGTAC 0.597000 11 23 0 0 0.013537 0 0 FRYL 285527 broad.mit.edu 37 4 48517230 48517230 + Silent SNP T T G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:48517230T>G ENST00000537810.1 - 56 8356 c.7752A>C c.(7750-7752)atA>atC p.I2584I FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.I2584I|FRYL_ENST00000358350.4_Silent_p.I2584I O94915 FRYL_HUMAN FRY-like 2584 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GTTCTTGAATTATATAGGATC 0.368000 15 47 0 0 0.003163 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626761 140626761 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:140626761C>T ENST00000231173.3 + 1 1615 c.1615C>T c.(1615-1617)Ccg>Tcg p.P539S NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 539 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCGGCTTCCCGGCGCTGAG 0.672000 18 54 0 0 0.004990 0 0 PGK2 5232 broad.mit.edu 37 6 49754123 49754123 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr6:49754123C>T ENST00000304801.3 - 1 930 c.778G>A c.(778-780)Gaa>Aaa p.E260K NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 260 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GCTCCCTCTTCATCAAACAGG 0.403000 22 82 0 0 0.012319 0 0 PDE4D 5144 broad.mit.edu 37 5 59064286 59064286 + Missense_Mutation SNP T T A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:59064286T>A ENST00000507116.1 - 1 185 c.50A>T c.(49-51)aAt>aTt p.N17I PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.N17I|PDE4D_ENST00000340635.6_Intron NM_001197218.1 NP_001184147.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) ACAATGCGGATTATCCACTTC 0.498000 47 131 0 0 0.014410 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261995 125261995 + Nonsense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:125261995C>T ENST00000431078.1 + 8 1550 c.1186C>T c.(1186-1188)Cga>Tga p.R396* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 396 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TTTCCAGTTTCGAACATGGAA 0.552000 20 66 0 0 0.014323 0 0 DNAH7 56171 broad.mit.edu 37 2 196651805 196651805 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:196651805G>A ENST00000312428.6 - 58 10907 c.10807C>T c.(10807-10809)Cct>Tct p.P3603S DNAH7_ENST00000409063.1_Missense_Mutation_p.P86S NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3603 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AACTCATAAGGAATATTCCAC 0.408000 21 49 0 0 0.012319 0 0 SAMSN1 64092 broad.mit.edu 37 21 15918571 15918571 + Silent SNP T T C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:15918571T>C ENST00000400566.1 - 1 93 c.12A>G c.(10-12)agA>agG p.R4R SAMSN1_ENST00000285670.2_Intron|SAMSN1_ENST00000400564.1_Silent_p.R4R NM_022136.4 NP_071419.3 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 4 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TGGATGGCTTTCTCTTGAGCA 0.348000 26 47 0 0 0.009535 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 42 0 0 0.004672 0 0 REG1B 5968 broad.mit.edu 37 2 79314027 79314027 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:79314027G>A ENST00000305089.3 - 3 174 c.94C>T c.(94-96)Ccc>Tcc p.P32S NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 32 cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CTGATTCGGGGATTAGGCAGC 0.493000 37 95 0 0 0.006999 0 0 PTGER2 5732 broad.mit.edu 37 14 52781313 52781313 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr14:52781313G>C ENST00000245457.5 + 1 201 c.47G>C c.(46-48)cGa>cCa p.R16P PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 16 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) TGCGAGACGCGACAGTGGCTT 0.652000 9 28 0 0 0.006214 0 0 LRRC6 23639 broad.mit.edu 37 8 133673737 133673737 + Silent SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:133673737G>C ENST00000519595.1 - 2 245 c.147C>G c.(145-147)ctC>ctG p.L49L LRRC6_ENST00000518642.1_Silent_p.L49L|LRRC6_ENST00000250173.1_Silent_p.L49L|LRRC6_ENST00000520446.1_5'UTR Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 49 cytoplasm p.L49L(2) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TTTGAAGATAGAGAATTTTTA 0.358000 8 31 0 0 0.006214 0 0 C5 727 broad.mit.edu 37 9 123789470 123789470 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:123789470C>T ENST00000223642.1 - 8 870 c.841G>A c.(841-843)Gaa>Aaa p.E281K NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 281 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TGCATCATTTCTTTTTGATCA 0.348000 3 15 0 0 0.004672 0 0 AASDH 132949 broad.mit.edu 37 4 57219614 57219614 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr4:57219614G>A ENST00000205214.6 - 9 1712 c.1532C>T c.(1531-1533)cCg>cTg p.P511L AASDH_ENST00000434343.2_Missense_Mutation_p.P26L|AASDH_ENST00000602986.1_Missense_Mutation_p.P358L|AASDH_ENST00000451613.1_Missense_Mutation_p.P511L|AASDH_ENST00000513376.1_Missense_Mutation_p.P411L|AASDH_ENST00000502617.1_Missense_Mutation_p.P511L NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 511 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) AAGCTCATCCGGGACTGCATG 0.338000 4 36 0 0 0.009096 0 0 CES5A 221223 broad.mit.edu 37 16 55905539 55905539 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:55905539G>A ENST00000521992.1 - 4 647 c.502C>T c.(502-504)Ccc>Tcc p.P168S CES5A_ENST00000518005.1_Missense_Mutation_p.P33S|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000290567.9_Missense_Mutation_p.P139S|CES5A_ENST00000319165.9_Missense_Mutation_p.P139S NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 139 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGCCTTACGGGGAGCTTGGAG 0.562000 9 26 0 0 0.010729 0 0 KRT24 192666 broad.mit.edu 37 17 38854842 38854842 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:38854842C>T ENST00000264651.2 - 7 1478 c.1422G>A c.(1420-1422)agG>agA p.R474R NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 474 Tail. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) ATACCAGATCCCTGGATCCCA 0.373000 69 101 0 0 0.014410 0 0 PPIG 9360 broad.mit.edu 37 2 170465225 170465225 + Missense_Mutation SNP A A G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:170465225A>G ENST00000260970.3 + 7 554 c.334A>G c.(334-336)Atg>Gtg p.M112V PPIG_ENST00000409714.3_Missense_Mutation_p.M97V|PPIG_ENST00000462903.1_Missense_Mutation_p.M112V|PPIG_ENST00000448752.2_Missense_Mutation_p.M112V NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 112 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) TCTCTTGTCAATGGCCAACAG 0.358000 5 28 0 0 0.001168 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 58 0 0 0.000602 0 0 ZNF608 57507 broad.mit.edu 37 5 123983396 123983396 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:123983396G>A ENST00000306315.5 - 4 3116 c.2681C>T c.(2680-2682)cCc>cTc p.P894L ZNF608_ENST00000504926.1_Missense_Mutation_p.P467L NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 894 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGAAGGGCTGGGAGCGTTGTC 0.562000 15 49 0 0 0.002450 0 0 KLK6 5653 broad.mit.edu 37 19 51470570 51470570 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:51470570C>T ENST00000376851.3 - 3 491 c.52G>A c.(52-54)Gag>Aag p.E18K KLK6_ENST00000376853.4_Missense_Mutation_p.E18K|KLK6_ENST00000424910.2_Intron|KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000310157.2_Missense_Mutation_p.E18K|KLK6_ENST00000594641.1_Missense_Mutation_p.E18K NM_001012964.1 NP_001012982.1 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 18 amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) TTATTCTGCTCCTCTGCCCAG 0.567000 15 29 0 0 0.004990 0 0 ACTL8 81569 broad.mit.edu 37 1 18152407 18152407 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:18152407C>T ENST00000375406.1 + 3 710 c.494C>T c.(493-495)cCc>cTc p.P165L NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 165 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CAGGGCCGCCCCTTGCCCGCC 0.617000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 32 0 0 0.002450 0 0 AFF2 2334 broad.mit.edu 37 X 148068951 148068951 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:148068951G>A ENST00000370460.2 + 20 4157 c.3678G>A c.(3676-3678)ggG>ggA p.G1226G AFF2_ENST00000286437.5_Silent_p.G867G|AFF2_ENST00000342251.3_Silent_p.G1193G|AFF2_ENST00000370457.5_Silent_p.G1191G NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1226 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ACGCAATGGGGAACTGTAACA 0.522000 16 111 0 0 0.008871 0 0 CD22 933 broad.mit.edu 37 19 35827052 35827052 + Missense_Mutation SNP T T G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:35827052T>G ENST00000085219.5 + 4 592 c.526T>G c.(526-528)Tgg>Ggg p.W176G CD22_ENST00000594250.1_Missense_Mutation_p.W176G|CD22_ENST00000544992.2_Missense_Mutation_p.W176G|CD22_ENST00000536635.2_Missense_Mutation_p.W176G|CD22_ENST00000341773.6_Missense_Mutation_p.W176G|CD22_ENST00000270311.6_Missense_Mutation_p.W56G|CD22_ENST00000419549.2_Splice_Site_p.W4_splice NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 176 Ig-like C2-type 1. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCAATTGCAGTGGCTCCTAGA 0.537000 66 77 0 0 0.014410 0 0 NEU4 129807 broad.mit.edu 37 2 242757595 242757595 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:242757595G>A ENST00000391969.2 + 5 1387 c.676G>A c.(676-678)Gcg>Acg p.A226T NEU4_ENST00000404257.1_Missense_Mutation_p.A238T|NEU4_ENST00000405370.1_Missense_Mutation_p.A226T|NEU4_ENST00000407683.1_Missense_Mutation_p.A226T|NEU4_ENST00000325935.6_Missense_Mutation_p.A239T NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 226 lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding breast(1)|lung(10)|prostate(2)|skin(2) 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GTGCCAGCTGGCGGCGGTGGA 0.697000 5 4 0 0 0.001168 0 0 ASUN 55726 broad.mit.edu 37 12 27068991 27068991 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:27068991C>G ENST00000261191.7 - 11 1728 c.1192G>C c.(1192-1194)Gat>Cat p.D398H ASUN_ENST00000539625.1_Missense_Mutation_p.D297H NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 398 cell division|mitosis|regulation of mitotic cell cycle protein binding GAAGGTGGATCTTCTAGAATG 0.378000 14 25 0 0 0.003163 0 0 CNNM1 26507 broad.mit.edu 37 10 101124759 101124759 + Splice_Site SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr10:101124759C>T ENST00000356713.4 + 6 2465 c.2176_splice c.e6+1 p.L726_splice CNNM1_ENST00000370534.4_Splice_Site_p.L361_splice|CNNM1_ENST00000370528.3_Splice_Site_p.L655_splice|CNNM1_ENST00000446890.1_Splice_Site_p.L655_splice NM_020348.2 NP_065081.2 Q9NRU3 CNNM1_HUMAN cyclin M1 726 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) TTCTGTCTTTCGTATGTATCT 0.547000 6 15 0 0 0.001984 0 0 ALG2 85365 broad.mit.edu 37 9 101980896 101980896 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr9:101980896G>A ENST00000476832.1 - 2 632 c.571C>T c.(571-573)Ctg>Ttg p.L191L ALG2_ENST00000319033.6_Silent_p.L98L NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 191 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) ATGTGAGACAGGGACTTGAAT 0.468000 21 57 0 0 0.003330 0 0 MAGI2 9863 broad.mit.edu 37 7 77762378 77762378 + Splice_Site SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:77762378C>T ENST00000354212.4 - 18 3285 c.e18-1 MAGI2_ENST00000419488.1_Splice_Site|MAGI2_ENST00000522391.1_Splice_Site NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 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) CTGTTGAGCTCTGCGATGGAG 0.597000 68 49 0 0 0.014410 0 0 PEX5 5830 broad.mit.edu 37 12 7362708 7362708 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr12:7362708C>G ENST00000266563.5 + 15 1881 c.1698C>G c.(1696-1698)atC>atG p.I566M PEX5_ENST00000412720.2_Missense_Mutation_p.I624M|PEX5_ENST00000455147.2_Missense_Mutation_p.I603M|PEX5_ENST00000266564.3_Missense_Mutation_p.I595M|PEX5_ENST00000434354.2_Missense_Mutation_p.I618M|PEX5_ENST00000420616.2_Missense_Mutation_p.I603M NM_001131024.1 NP_001124496.1 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 603 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 CGGAGAACATCTGGAGCACCC 0.597000 24 48 0 0 0.003330 0 0 PREX1 57580 broad.mit.edu 37 20 47267975 47267975 + Missense_Mutation SNP T T C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr20:47267975T>C ENST00000396220.1 - 22 2636 c.2614A>G c.(2614-2616)Aag>Gag p.K872E PREX1_ENST00000371941.3_Missense_Mutation_p.K872E Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 872 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TCCACGATCTTCTCCAGCACA 0.627000 21 48 0 0 0.014323 0 0 ATRX 546 broad.mit.edu 37 X 76776955 76776955 + Missense_Mutation SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chrX:76776955C>T ENST00000373344.5 - 33 7211 c.6997G>A c.(6997-6999)Gaa>Aaa p.E2333K ATRX_ENST00000395603.3_Missense_Mutation_p.E2295K|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2333 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) ACAACTTTTTCTCTTCCTTGA 0.363000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 38 0 0 0.004482 0 0 SCN3A 6328 broad.mit.edu 37 2 166019313 166019313 + Silent SNP C C T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:166019313C>T ENST00000360093.3 - 8 1211 c.720G>A c.(718-720)ctG>ctA p.L240L SCN3A_ENST00000409101.3_Silent_p.L240L|SCN3A_ENST00000283254.7_Silent_p.L240L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 240 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCGACTGGATCAGGGCCCCCA 0.458000 27 68 0 0 0.006320 0 0 UPF1 5976 broad.mit.edu 37 19 18965518 18965518 + Splice_Site SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:18965518G>A ENST00000262803.5 + 9 1537 c.1265_splice c.e9+1 p.R422_splice UPF1_ENST00000599848.1_Splice_Site_p.R433_splice NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 433 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 TCCTTTGACAGGTACGTCTTC 0.582000 26 76 0 0 0.003330 0 0 OR4D11 219986 broad.mit.edu 37 11 59271159 59271159 + Silent SNP G G A rs146036577 TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:59271159G>A ENST00000313253.1 + 1 111 c.111G>A c.(109-111)acG>acA p.T37T NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TGTACATGACGACTCTGCTGG 0.453000 33 109 0 0 0.012213 0 0 SEMA3E 9723 broad.mit.edu 37 7 83277754 83277754 + Silent SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:83277754C>G ENST00000307792.3 - 1 572 c.105G>C c.(103-105)ctG>ctC p.L35L NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 35 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CTTTATGTGACAGGCGTAACC 0.408000 6 33 0 0 0.001168 0 0 PCNT 5116 broad.mit.edu 37 21 47786747 47786747 + Missense_Mutation SNP A A T TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr21:47786747A>T ENST00000359568.5 + 15 2965 c.2858A>T c.(2857-2859)cAc>cTc p.H953L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 953 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CAGACAAAACACGCTGCCGAC 0.592000 18 68 0 0 0.007413 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431165 56431165 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:56431165G>A ENST00000302969.2 + 1 28 c.4G>A c.(4-6)Gat>Aat p.D2N NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TGAAGCAATGGATAAAGAAAA 0.393000 15 45 0 0 0.003163 0 0 CORO7 79585 broad.mit.edu 37 16 4412725 4412725 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr16:4412725G>A ENST00000251166.4 - 15 1435 c.1290C>T c.(1288-1290)tcC>tcT p.S430S CORO7-PAM16_ENST00000572467.1_Silent_p.S430S|CORO7_ENST00000574025.1_Silent_p.S345S|CORO7_ENST00000539968.1_Silent_p.S210S|CORO7_ENST00000537233.2_Silent_p.S412S|CORO7_ENST00000423908.2_Silent_p.S262S NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 AACTGGGAGGGGAAGAGAAAC 0.667000 4 12 0 0 0.009096 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47581254 47581254 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:47581254G>A ENST00000334194.3 + 10 1258 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 419 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CTATTTCTGGGAAGACCCTCA 0.443000 10 31 0 0 0.010729 0 0 IL18RAP 8807 broad.mit.edu 37 2 103061796 103061796 + Silent SNP A A G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr2:103061796A>G ENST00000264260.2 + 9 1657 c.1068A>G c.(1066-1068)agA>agG p.R356R IL18RAP_ENST00000409369.1_Silent_p.R214R NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 356 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AAGAAAAGAGAGGAGGTAAGC 0.453000 8 53 0 0 0.003080 0 0 STAG3 10734 broad.mit.edu 37 7 99799470 99799470 + Missense_Mutation SNP C C G TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:99799470C>G ENST00000426455.1 + 22 2689 c.2282C>G c.(2281-2283)tCt>tGt p.S761C GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.S703C|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.S761C Q9UJ98 STAG3_HUMAN stromal antigen 3 761 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCCACATTTCTAAATCAGAT 0.448000 18 69 0 0 0.007413 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171534 150171534 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:150171534G>A ENST00000307271.3 + 4 1691 c.1117G>A c.(1117-1119)Gat>Aat p.D373N NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 373 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGGGGATCAGGATCTAGATAC 0.398000 75 94 0 0 0.014410 0 0 VCAN 1462 broad.mit.edu 37 5 82837484 82837484 + Missense_Mutation SNP G G C TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr5:82837484G>C ENST00000265077.3 + 8 9227 c.8662G>C c.(8662-8664)Gag>Cag p.E2888Q VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E1901Q|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2888 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCACATAACTGAGCCTCCCTC 0.388000 14 43 0 0 0.002450 0 0 OR4C16 219428 broad.mit.edu 37 11 55340452 55340452 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:55340452G>A ENST00000314634.3 + 1 849 c.849G>A c.(847-849)gtG>gtA p.V283V NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V283V(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TCAACCCTGTGATTTACACGC 0.378000 5 8 0 0 0.000602 0 0 CATSPER1 117144 broad.mit.edu 37 11 65788040 65788040 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr11:65788040G>A ENST00000312106.5 - 7 2123 c.1986C>T c.(1984-1986)ttC>ttT p.F662F NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 662 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CTCACTTGAGGAAGATGAAGT 0.592000 10 27 0 0 0.006214 0 0 CASZ1 54897 broad.mit.edu 37 1 10720200 10720200 + Frame_Shift_Del DEL A A - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr1:10720200delA ENST00000377022.3 - 6 1216 c.899delT c.(898-900)gcfs p.V300fs CASZ1_ENST00000344008.5_Frame_Shift_Del_p.V300fs NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CTGCATCTGGACACTGCTGTG 0.647 32 141 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150817 65150817 + RNA DEL C C - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr7:65150817delC ENST00000430126.2 + 0 757 TCATCCCTCACCCCCCCCCCC 0.468 5 11 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 2 4 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 7 166 --- --- --- --- C19orf44 84167 broad.mit.edu 37 19 16620727 16620727 + Frame_Shift_Del DEL G G - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:16620727delG ENST00000221671.3 + 5 1723 c.1567delG c.(1567-1569)tgfs p.V523fs CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Frame_Shift_Del_p.V523fs NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 523 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 GGGCAGGCACGTGACAAGAGT 0.562 16 75 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA TCCCTGGAAAACACACACACAC 0.411 10 110 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf0b46af-6a2d-4462-b929-32490ec0f6e3 547c80f8-2b47-42fb-80dc-e98733dd9830 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 9 165 --- --- --- ---